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ASPH aspartate beta-hydroxylase [ Homo sapiens (human) ]

Gene ID: 444, updated on 9-Aug-2026
Official Symbol
ASPHprovided by HGNC
Official Full Name
aspartate beta-hydroxylaseprovided by HGNC
Primary source
HGNC:HGNC:757
See related
Ensembl:ENSG00000198363 MIM:600582; AllianceGenome:HGNC:757
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
AAH; BAH; HAAH; JCTN; FDLAB; junctin; CASQ2BP1
Summary
This gene is thought to play an important role in calcium homeostasis. The gene is expressed from two promoters and undergoes extensive alternative splicing. The encoded set of proteins share varying amounts of overlap near their N-termini but have substantial variations in their C-terminal domains resulting in distinct functional properties. The longest isoforms (a and f) include a C-terminal Aspartyl/Asparaginyl beta-hydroxylase domain that hydroxylates aspartic acid or asparagine residues in the epidermal growth factor (EGF)-like domains of some proteins, including protein C, coagulation factors VII, IX, and X, and the complement factors C1R and C1S. Other isoforms differ primarily in the C-terminal sequence and lack the hydroxylase domain, and some have been localized to the endoplasmic and sarcoplasmic reticulum. Some of these isoforms are found in complexes with calsequestrin, triadin, and the ryanodine receptor, and have been shown to regulate calcium release from the sarcoplasmic reticulum. Some isoforms have been implicated in metastasis. [provided by RefSeq, Sep 2009]
Expression
Broad expression in fat (RPKM 85.5), adrenal (RPKM 27.8) and 21 other tissues See more
Orthologs
all
Try the new Gene page
Try the new Transcripts and proteins table
See ASPH in Genome Data Viewer
Location:
8q12.3
Exon count:
33
Annotation release Status Assembly Chr Location
RS_2025_08 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (61500556..61714592, complement)
RS_2025_08 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (61924301..62138323, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (62413115..62627151, complement)

Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene clavesin 1 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:62185690-62186311 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:62186312-62186932 Neighboring gene nucleophosmin 1 pseudogene 6 Neighboring gene uncharacterized LOC105375870 Neighboring gene NANOG hESC enhancer GRCh37_chr8:62279520-62280036 Neighboring gene NANOG hESC enhancer GRCh37_chr8:62335334-62335851 Neighboring gene Sharpr-MPRA regulatory region 11405 Neighboring gene ReSE screen-validated silencer GRCh37_chr8:62392811-62393004 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27445 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27446 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27447 Neighboring gene keratin 8 pseudogene 3 Neighboring gene RN7SK pseudogene 97 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19235 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19236 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr8:62634171-62635370 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19237 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr8:62672336-62673535 Neighboring gene HNF1 motif-containing MPRA enhancer 71 Neighboring gene microRNA 4470 Neighboring gene uncharacterized LOC105375871 Neighboring gene long independently transcribed non-coding RNA 2842

Go to nucleotide: Graphics FASTA GenBank

Related articles in PubMed

  1. siRNA inhibition of aspartyl-asparaginyl β-hydroxylase expression impairs cell motility, Notch signaling, and fetal growth. Gundogan F, et al. Pathol Res Pract, 2011 Sep 15. PMID 21862239, Free PMC Article
  2. A novel mutation in the aspartate beta-hydroxylase (ASPH) gene is associated with a rare form of Traboulsi syndrome. Senthil S, et al. Ophthalmic Genet, 2021 Feb. PMID 33251883
  3. Anti-Tumor Effects of Second Generation β-Hydroxylase Inhibitors on Cholangiocarcinoma Development and Progression. Huang CK, et al. PLoS One, 2016. PMID 26954680, Free PMC Article
  4. Junctate boosts phagocytosis by recruiting endoplasmic reticulum Ca2+ stores near phagosomes. Guido D, et al. J Cell Sci, 2015 Nov 15. PMID 26446257
  5. Human Oxygenase Variants Employing a Single Protein Fe(II) Ligand Are Catalytically Active. Brasnett A, et al. Angew Chem Int Ed Engl, 2021 Jun 21. PMID 33887099, Free PMC Article

See all (246) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Genotype-phenotype profile of global ASPH-associated ectopia lentis and clinical findings from a Chinese cohort.
    Title: Genotype-phenotype profile of global ASPH-associated ectopia lentis and clinical findings from a Chinese cohort.
  2. Overexpression of ASPH protein predicts poor outcomes in retroperitoneal liposarcoma patients.
    Title: Overexpression of ASPH protein predicts poor outcomes in retroperitoneal liposarcoma patients.
  3. Aspartate beta-hydroxylase (ASPH) Accelerates Intrahepatic Cholangiocarcinoma Metastasis via Upregulating SHH Signaling Pathway.
    Title: Aspartate β-hydroxylase (ASPH) Accelerates Intrahepatic Cholangiocarcinoma Metastasis via Upregulating SHH Signaling Pathway.
  4. Traboulsi syndrome caused by mutations in ASPH: An autosomal recessive disorder with overlapping features of Marfan syndrome.
    Title: Traboulsi syndrome caused by mutations in ASPH: An autosomal recessive disorder with overlapping features of Marfan syndrome.
  5. Overexpression of Human Aspartyl (Asparaginyl) beta-hydroxylase in NSCLC: Its Diagnostic Value by Means of Exosomes of Bronchoalveolar Lavage.
    Title: Overexpression of Human Aspartyl (Asparaginyl) β-hydroxylase in NSCLC: Its Diagnostic Value by Means of Exosomes of Bronchoalveolar Lavage.
  6. Expanding the clinical spectrum and management of Traboulsi syndrome: report on two siblings homozygous for a novel pathogenic variant in ASPH.
    Title: Expanding the clinical spectrum and management of Traboulsi syndrome: report on two siblings homozygous for a novel pathogenic variant in ASPH.
  7. Human Oxygenase Variants Employing a Single Protein Fe(II) Ligand Are Catalytically Active.
    Title: Human Oxygenase Variants Employing a Single Protein Fe(II) Ligand Are Catalytically Active.
  8. A novel mutation in the aspartate beta-hydroxylase (ASPH) gene is associated with a rare form of Traboulsi syndrome.
    Title: A novel mutation in the aspartate beta-hydroxylase (ASPH) gene is associated with a rare form of Traboulsi syndrome.
  9. Diverse molecular functions of aspartate betahydroxylase in cancer (Review).
    Title: Diverse molecular functions of aspartate β‑hydroxylase in cancer (Review).
  10. Aspartate beta-hydroxylase targeting in castration-resistant prostate cancer modulates the NOTCH/HIF1alpha/GSK3beta crosstalk.
    Title: Aspartate β-hydroxylase targeting in castration-resistant prostate cancer modulates the NOTCH/HIF1α/GSK3β crosstalk.
Submit: New GeneRIF Correction See all GeneRIFs (40)

Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

Protein interactions

Protein Gene Interaction Pubs
Envelope surface glycoprotein gp160, precursor env HIV-1 gp160 interacts with ASPH; predicted interaction to be within the endoplasmic reticulum PubMed

Go to the HIV-1, Human Interaction Database

Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables calcium ion binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables calcium ion binding NAS
Non-traceable Author Statement
more info
 PubMed 
enables calcium ion binding TAS
Traceable Author Statement
more info
 PubMed 
enables electron transfer activity TAS
Traceable Author Statement
more info
 PubMed 
enables peptidyl-aspartic acid 3-dioxygenase activity EXP
Inferred from Experiment
more info
 PubMed 
enables peptidyl-aspartic acid 3-dioxygenase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables peptidyl-aspartic acid 3-dioxygenase activity IEA
Inferred from Electronic Annotation
more info
  
enables peptidyl-aspartic acid 3-dioxygenase activity TAS
Traceable Author Statement
more info
 PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables structural constituent of muscle TAS
Traceable Author Statement
more info
 PubMed 
enables structural molecule activity TAS
Traceable Author Statement
more info
 PubMed 
enables transmembrane transporter binding TAS
Traceable Author Statement
more info
 PubMed 
Process Evidence Code Pubs
involved_in activation of store-operated calcium channel activity IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in calcium ion homeostasis IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in calcium ion transmembrane transport IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in cellular response to calcium ion IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in detection of calcium ion TAS
Traceable Author Statement
more info
 PubMed 
involved_in muscle contraction TAS
Traceable Author Statement
more info
 PubMed 
involved_in phosphatidylinositol-mediated signaling IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in positive regulation of DNA-templated transcription IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in positive regulation of calcium ion transport into cytosol IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in positive regulation of intracellular protein transport IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in positive regulation of proteolysis IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion ISS
Inferred from Sequence or Structural Similarity
more info
 PubMed 
involved_in regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion TAS
Traceable Author Statement
more info
 PubMed 
involved_in regulation of cell communication by electrical coupling TAS
Traceable Author Statement
more info
 PubMed 
involved_in regulation of cytosolic calcium ion concentration IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in regulation of protein depolymerization IEA
Inferred from Electronic Annotation
more info
  
involved_in regulation of protein stability IEA
Inferred from Electronic Annotation
more info
  
involved_in regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum TAS
Traceable Author Statement
more info
 PubMed 
involved_in response to ATP IDA
Inferred from Direct Assay
more info
 PubMed 
Component Evidence Code Pubs
part_of calcium channel complex TAS
Traceable Author Statement
more info
 PubMed 
located_in cortical endoplasmic reticulum IDA
Inferred from Direct Assay
more info
 PubMed 
located_in cytoplasm IEA
Inferred from Electronic Annotation
more info
  
is_active_in endoplasmic reticulum IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in endoplasmic reticulum IDA
Inferred from Direct Assay
more info
  
located_in endoplasmic reticulum TAS
Traceable Author Statement
more info
 PubMed 
located_in endoplasmic reticulum membrane IDA
Inferred from Direct Assay
more info
 PubMed 
located_in endoplasmic reticulum membrane IEA
Inferred from Electronic Annotation
more info
  
located_in endoplasmic reticulum membrane NAS
Non-traceable Author Statement
more info
 PubMed 
located_in endoplasmic reticulum membrane TAS
Traceable Author Statement
more info
 PubMed 
located_in junctional sarcoplasmic reticulum membrane TAS
Traceable Author Statement
more info
 PubMed 
located_in membrane IEA
Inferred from Electronic Annotation
more info
  
located_in plasma membrane IDA
Inferred from Direct Assay
more info
 PubMed 
located_in sarcoplasmic reticulum lumen TAS
Traceable Author Statement
more info
 PubMed 
located_in sarcoplasmic reticulum membrane IEA
Inferred from Electronic Annotation
more info
  
located_in sarcoplasmic reticulum membrane TAS
Traceable Author Statement
more info
 PubMed 
Preferred Names
aspartyl/asparaginyl beta-hydroxylase
Names
A beta H-J-J
ASP beta-hydroxylase
cardiac junctin
humbug
junctate
peptide-aspartate beta-dioxygenase
NP_001158222.1
NP_001158223.1
NP_001158224.1
NP_001158225.1
NP_001158226.1
NP_001158227.1
NP_001158228.1
NP_001400773.1
NP_001400774.1
NP_001400775.1
NP_001400776.1
NP_001400777.1
NP_001400778.1
NP_001400779.1
NP_001400780.1
NP_001400781.1
NP_001400782.1
NP_001400783.1
NP_001400784.1
NP_001400785.1
NP_001400786.1
NP_001400787.1
NP_001400788.1
NP_001400789.1
NP_001400790.1
NP_001400791.1
NP_001400792.1
NP_001400793.1
NP_001400794.1
NP_001400795.1
NP_001400796.1
NP_001400797.1
NP_001400798.1
NP_001400799.1
NP_001400800.1
NP_001400801.1
NP_001400802.1
NP_001400803.1
NP_001400804.1
NP_001400805.1
NP_001400806.1
NP_001400807.1
NP_001400808.1
NP_001400809.1
NP_001400810.1
NP_001400811.1
NP_001400812.1
NP_001400813.1
NP_001400814.1
NP_001400815.1
NP_001400816.1
NP_001400817.1
NP_001400818.1
NP_001400819.1
NP_001400820.1
NP_001400822.1
NP_001400823.1
NP_001400824.1
NP_001400825.1
NP_001400826.1
NP_001400827.1
NP_001400828.1
NP_001400829.1
NP_001400830.1
NP_001400831.1
NP_001400832.1
NP_001400833.1
NP_001400834.1
NP_001400835.1
NP_001400836.1
NP_001400837.1
NP_001400838.1
NP_001426125.1
NP_004309.2
NP_064549.1
NP_115855.1
NP_115856.1
NP_115857.1
XP_005251301.1
XP_016868908.1
XP_016868909.1
XP_016868915.1
XP_016868916.1
XP_016868919.1
XP_016868920.1
XP_016868924.1
XP_016868928.1
XP_016868929.1
XP_016868933.1
XP_024302925.1
XP_024302926.1
XP_047277747.1
XP_047277748.1
XP_047277749.1
XP_054216456.1
XP_054216457.1
XP_054216458.1
XP_054216459.1
XP_054216460.1
XP_054216461.1
XP_054216462.1
XP_054216463.1
XP_054216464.1
XP_054216465.1
XP_054216466.1
XP_054216467.1
XP_054216468.1
XP_054216469.1
XP_054216470.1
XP_054216471.1

NEW Try the new Transcript table

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_013210.1 RefSeqGene

    Range
    5049..219085
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001164750.2 → NP_001158222.1  aspartyl/asparaginyl beta-hydroxylase isoform 6

    Status: REVIEWED

    Description
    Transcript Variant: This variant (6) represents use of an alternate promoter and 5' UTR and uses a distinct start codon, compared to variant 1. The resulting isoform (f) has a shorter and distinct N-terminus, compared to isoform a. This isoform includes the beta-hydroxylase domain found in isoform a and is likely to have catalytic activity.
    Source sequence(s)
    AC090094, AF339775, AK304314, BC025236, DN993915, S83325
    Consensus CDS
    CCDS55234.1
    UniProtKB/TrEMBL
    A0ACI8SML8
    Related
    ENSP00000437864.1, ENST00000541428.5
    Conserved Domains (5) summary
    TIGR02795
    Location:313 → 426
    tol_pal_ybgF; tol-pal system protein YbgF
    pfam05279
    Location:14 → 281
    Asp-B-Hydro_N; Aspartyl beta-hydroxylase N-terminal region
    sd00006
    Location:429 → 453
    TPR; TPR repeat [structural motif]
    pfam05118
    Location:562 → 715
    Asp_Arg_Hydrox; Aspartyl/Asparaginyl beta-hydroxylase
    pfam13428
    Location:316 → 355
    TPR_14; Tetratricopeptide repeat

  2. NM_001164751.2 → NP_001158223.1  aspartyl/asparaginyl beta-hydroxylase isoform 7

    See identical proteins and their annotated locations for NP_001158223.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (7) represents use of an alternate promoter and 5' UTR and uses a distinct start codon, uses a distinct 3' splice pattern that lacks many coding exons, includes an alternate in-frame exon and uses an alternate in-frame splice site, compared to variant 1. The resulting isoform (g) has a shorter and distinct N-terminus a substantially shorter and distinct C-terminus, and several internal differences, compared to isoform a. This isoform is similar to isoform b, which is also known as junctate.
    Source sequence(s)
    AC067881, BC144362, BU623111, DN993915
    Consensus CDS
    CCDS55236.1
    UniProtKB/TrEMBL
    E5RG56
    Related
    ENSP00000430245.1, ENST00000517903.5
    Conserved Domains (1) summary
    pfam05279
    Location:14 → 295
    Asp-B-Hydro_N; Aspartyl beta-hydroxylase N-terminal region

  3. NM_001164752.2 → NP_001158224.1  aspartyl/asparaginyl beta-hydroxylase isoform 8

    See identical proteins and their annotated locations for NP_001158224.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (8) represents use of an alternate promoter and 5' UTR and uses a distinct start codon, uses a distinct 3' splice pattern that lacks many coding exons, includes an alternate in-frame exon, lacks an alternate in-frame exon, and uses an alternate in-frame splice site, compared to variant 1. The resulting isoform (h) has a shorter and distinct N-terminus a substantially shorter and distinct C-terminus, and several internal differences, compared to isoform a. This isoform is similar to isoform b, which is also known as junctate.
    Source sequence(s)
    AC067881, BC144363, BU623111, DN993915
    UniProtKB/TrEMBL
    B4DQ07, B7ZM96
    Conserved Domains (1) summary
    pfam05279
    Location:14 → 276
    Asp-B-Hydro_N; Aspartyl beta-hydroxylase N-terminal region

  4. NM_001164753.2 → NP_001158225.1  aspartyl/asparaginyl beta-hydroxylase isoform 9

    See identical proteins and their annotated locations for NP_001158225.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (9) represents use of an alternate promoter and 5' UTR and uses a distinct start codon, uses a distinct 3' splice pattern that lacks many coding exons, includes an alternate in-frame exon, and lacks an alternate in-frame exon, compared to variant 1. The resulting isoform (i) has a shorter and distinct N-terminus a substantially shorter and distinct C-terminus, and several internal differences, compared to isoform a. This isoform is similar to isoform b, which is also known as junctate.
    Source sequence(s)
    AC067881, AK295528, BU623111, DN993915
    Consensus CDS
    CCDS55235.1
    UniProtKB/Swiss-Prot
    Q12797
    Related
    ENSP00000429160.1, ENST00000522835.5
    Conserved Domains (1) summary
    pfam05279
    Location:14 → 253
    Asp-B-Hydro_N; Aspartyl beta-hydroxylase N-terminal region

  5. NM_001164754.2 → NP_001158226.1  aspartyl/asparaginyl beta-hydroxylase isoform 10

    Status: REVIEWED

    Description
    Transcript Variant: This variant (10) lacks an alternate in-frame exon and uses a distinct 3' splice pattern that lacks many coding exons, compared to variant 1. The resulting isoform (j) lacks an internal segment and has a substantially shorter and distinct C-terminus, compared to isoform a.
    Source sequence(s)
    AC067881, AK298577, BU623111, DA136318
    Consensus CDS
    CCDS75746.1
    UniProtKB/TrEMBL
    Q6PJH4
    Related
    ENSP00000394013.4, ENST00000445642.7
    Conserved Domains (1) summary
    pfam05279
    Location:43 → 291
    Asp-B-Hydro_N; Aspartyl beta-hydroxylase N-terminal region

  6. NM_001164755.2 → NP_001158227.1  aspartyl/asparaginyl beta-hydroxylase isoform 11

    See identical proteins and their annotated locations for NP_001158227.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (11) lacks an alternate in-frame exon and uses a distinct 3' splice pattern that lacks many coding exons, compared to variant 1. The resulting isoform (k) lacks an internal segment and has a substantially shorter and distinct C-terminus, compared to isoform a.
    Source sequence(s)
    AC067881, BC025236, BU623111
    Consensus CDS
    CCDS55237.1
    UniProtKB/TrEMBL
    A8K721
    Related
    ENSP00000429286.1, ENST00000518068.6
    Conserved Domains (1) summary
    pfam05279
    Location:43 → 267
    Asp-B-Hydro_N; Aspartyl beta-hydroxylase N-terminal region

  7. NM_001164756.2 → NP_001158228.1  aspartyl/asparaginyl beta-hydroxylase isoform 12

    See identical proteins and their annotated locations for NP_001158228.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (12) includes an alternate in-frame exon and uses a distinct 3' splice pattern that lacks many coding exons, compared to variant 1. The resulting isoform (l) includes an alternate segment and has a substantially shorter and distinct C-terminus, compared to isoform a.
    Source sequence(s)
    BC066929, BU741737, DA136318
    Consensus CDS
    CCDS55238.1
    UniProtKB/Swiss-Prot
    Q12797
    Related
    ENSP00000368762.5, ENST00000379449.12
    Conserved Domains (1) summary
    pfam05279
    Location:43 → 146
    Asp-B-Hydro_N; Aspartyl beta-hydroxylase N-terminal region

  8. NM_001413844.1 → NP_001400773.1  aspartyl/asparaginyl beta-hydroxylase isoform 13

    Status: REVIEWED

    Source sequence(s)
    AC067881, AC090094
    UniProtKB/TrEMBL
    A0ACI8Q8W2, A0ACI8S4Q4
    Related
    ENSP00000558033.1, ENST00000887974.2

  9. NM_001413845.1 → NP_001400774.1  aspartyl/asparaginyl beta-hydroxylase isoform 14

    Status: REVIEWED

    Source sequence(s)
    AC067881, AC090094
    UniProtKB/TrEMBL
    A0ACI8Q8V8, A0ACI8RDX7
    Related
    ENSP00000557986.1, ENST00000887927.2

  10. NM_001413846.1 → NP_001400775.1  aspartyl/asparaginyl beta-hydroxylase isoform 15

    Status: REVIEWED

    Source sequence(s)
    AC067881, AC090094
    UniProtKB/TrEMBL
    A0ACI8Q8V8, A0ACI8S7P5
    Related
    ENSP00000558004.1, ENST00000887945.2

  11. NM_001413847.1 → NP_001400776.1  aspartyl/asparaginyl beta-hydroxylase isoform 16

    Status: REVIEWED

    Source sequence(s)
    AC067881, AC090094
    UniProtKB/TrEMBL
    A0ACI8RVB5, A0ACI8S7Q6
    Related
    ENSP00000558029.1, ENST00000887970.2

  12. NM_001413848.1 → NP_001400777.1  aspartyl/asparaginyl beta-hydroxylase isoform 17

    Status: REVIEWED

    Source sequence(s)
    AC067881, AC090094
    UniProtKB/TrEMBL
    A0ACI8Q8V8, A0ACI8RVD0
    Related
    ENSP00000558034.1, ENST00000887975.2

  13. NM_001413849.1 → NP_001400778.1  aspartyl/asparaginyl beta-hydroxylase isoform 65

    Status: REVIEWED

    Source sequence(s)
    AC067881, AC090094
    UniProtKB/TrEMBL
    A0ACI8Q8V8, A0ACI8UNY9
    Related
    ENSP00000620846.1, ENST00000950787.2

  14. NM_001413850.1 → NP_001400779.1  aspartyl/asparaginyl beta-hydroxylase isoform 18

    Status: REVIEWED

    Source sequence(s)
    AC067881, AC090094
    UniProtKB/TrEMBL
    A0ACI8QKN9, A0ACI8SMM1
    Related
    ENSP00000557985.1, ENST00000887926.2

  15. NM_001413851.1 → NP_001400780.1  aspartyl/asparaginyl beta-hydroxylase isoform 69

    Status: REVIEWED

    Source sequence(s)
    AC067881, AC090094
    UniProtKB/TrEMBL
    A0ACI8SMM1, A0ACI8UL40
    Related
    ENSP00000620836.1, ENST00000950777.2

  16. NM_001413852.1 → NP_001400781.1  aspartyl/asparaginyl beta-hydroxylase isoform 19

    Status: REVIEWED

    Source sequence(s)
    AC067881, AC090094
    UniProtKB/TrEMBL
    A0ACI8RLL2, A0ACI8UL59
    Related
    ENSP00000557990.1, ENST00000887931.2

  17. NM_001413853.1 → NP_001400782.1  aspartyl/asparaginyl beta-hydroxylase isoform 20

    Status: REVIEWED

    Source sequence(s)
    AC067881, AC090094
    UniProtKB/TrEMBL
    A0ACI8UL59

  18. NM_001413854.1 → NP_001400783.1  aspartyl/asparaginyl beta-hydroxylase isoform 21

    Status: REVIEWED

    Source sequence(s)
    AC067881, AC090094
    UniProtKB/TrEMBL
    A0ACI8R0W6, A0ACI8SMM1
    Related
    ENSP00000557997.1, ENST00000887938.2

  19. NM_001413855.1 → NP_001400784.1  aspartyl/asparaginyl beta-hydroxylase isoform 70

    Status: REVIEWED

    Source sequence(s)
    AC067881, AC090094
    UniProtKB/TrEMBL
    A0ACI8QST9, A0ACI8RLM7
    Related
    ENSP00000558030.1, ENST00000887971.2

  20. NM_001413856.1 → NP_001400785.1  aspartyl/asparaginyl beta-hydroxylase isoform 71

    Status: REVIEWED

    Source sequence(s)
    AC067881, AC090094
    UniProtKB/TrEMBL
    A0ACI8SML8

  21. NM_001413857.1 → NP_001400786.1  aspartyl/asparaginyl beta-hydroxylase isoform 22

    Status: REVIEWED

    Source sequence(s)
    AC067881, AC090094
    UniProtKB/TrEMBL
    A0ACI8RJ42, A0ACI8SMM1
    Related
    ENSP00000557992.1, ENST00000887933.2

  22. NM_001413858.1 → NP_001400787.1  aspartyl/asparaginyl beta-hydroxylase isoform 23

    Status: REVIEWED

    Source sequence(s)
    AC067881, AC090094
    UniProtKB/TrEMBL
    A0ACI8Q8U6, A0ACI8SMM1
    Related
    ENSP00000558007.1, ENST00000887948.2

  23. NM_001413859.1 → NP_001400788.1  aspartyl/asparaginyl beta-hydroxylase isoform 72

    Status: REVIEWED

    Source sequence(s)
    AC067881, AC090094
    UniProtKB/TrEMBL
    A0ACI8SB80, A0ACI8UQP1
    Related
    ENSP00000558023.1, ENST00000887964.2

  24. NM_001413860.1 → NP_001400789.1  aspartyl/asparaginyl beta-hydroxylase isoform 24

    Status: REVIEWED

    Source sequence(s)
    AC067881, AC090094
    UniProtKB/TrEMBL
    A0ACI8R9C5, A0ACI8RV99
    Related
    ENSP00000557984.1, ENST00000887925.2

  25. NM_001413861.1 → NP_001400790.1  aspartyl/asparaginyl beta-hydroxylase isoform 25

    Status: REVIEWED

    Source sequence(s)
    AC067881, AC090094
    UniProtKB/TrEMBL
    A0ACI8Q8T9, A0ACI8R9C5
    Related
    ENSP00000557989.1, ENST00000887930.2

  26. NM_001413862.1 → NP_001400791.1  aspartyl/asparaginyl beta-hydroxylase isoform 26

    Status: REVIEWED

    Source sequence(s)
    AC067881, AC090094
    UniProtKB/TrEMBL
    A0ACI8SMM1

  27. NM_001413863.1 → NP_001400792.1  aspartyl/asparaginyl beta-hydroxylase isoform 27

    Status: REVIEWED

    Source sequence(s)
    AC067881, AC090094
    UniProtKB/TrEMBL
    A0ACI8Q8U1, A0ACI8UQE2
    Related
    ENSP00000558001.1, ENST00000887942.2

  28. NM_001413864.1 → NP_001400793.1  aspartyl/asparaginyl beta-hydroxylase isoform 66

    Status: REVIEWED

    Source sequence(s)
    AC067881, AC090094
    UniProtKB/TrEMBL
    A0ACI8SMK9, A0ACI8UL27
    Related
    ENSP00000583438.1, ENST00000913379.2

  29. NM_001413865.1 → NP_001400794.1  aspartyl/asparaginyl beta-hydroxylase isoform 67

    Status: REVIEWED

    Source sequence(s)
    AC067881, AC090094
    UniProtKB/TrEMBL
    A0ACI8UQE2

  30. NM_001413866.1 → NP_001400795.1  aspartyl/asparaginyl beta-hydroxylase isoform 68

    Status: REVIEWED

    Source sequence(s)
    AC067881, AC090094
    UniProtKB/TrEMBL
    A0ACI8QR26, A0ACI8UL27
    Related
    ENSP00000558018.1, ENST00000887959.2

  31. NM_001413867.1 → NP_001400796.1  aspartyl/asparaginyl beta-hydroxylase isoform 28

    Status: REVIEWED

    Source sequence(s)
    AC067881, AC090094
    UniProtKB/TrEMBL
    A0ACI8QYT0, A0ACI8R9C5
    Related
    ENSP00000558006.1, ENST00000887947.2

  32. NM_001413868.1 → NP_001400797.1  aspartyl/asparaginyl beta-hydroxylase isoform 73

    Status: REVIEWED

    Source sequence(s)
    AC067881, AC090094
    UniProtKB/TrEMBL
    A0ACI8Q925, A0ACI8SCS6
    Related
    ENSP00000558021.1, ENST00000887962.2

  33. NM_001413869.1 → NP_001400798.1  aspartyl/asparaginyl beta-hydroxylase isoform 29

    Status: REVIEWED

    Source sequence(s)
    AC067881, AC090094
    UniProtKB/TrEMBL
    A0ACI8S2H5, A0ACI8SCS6
    Related
    ENSP00000558002.1, ENST00000887943.2

  34. NM_001413870.1 → NP_001400799.1  aspartyl/asparaginyl beta-hydroxylase isoform 30

    Status: REVIEWED

    Source sequence(s)
    AC067881, AC090094
    UniProtKB/TrEMBL
    A0ACI8QSR7, A0ACI8UNI6
    Related
    ENSP00000558005.1, ENST00000887946.2

  35. NM_001413871.1 → NP_001400800.1  aspartyl/asparaginyl beta-hydroxylase isoform 31

    Status: REVIEWED

    Source sequence(s)
    AC067881, AC090094
    UniProtKB/TrEMBL
    A0ACI8RQF8, A0ACI8UQE2
    Related
    ENSP00000557994.1, ENST00000887935.2

  36. NM_001413872.1 → NP_001400801.1  aspartyl/asparaginyl beta-hydroxylase isoform 74

    Status: REVIEWED

    Source sequence(s)
    AC067881, AC090094
    UniProtKB/TrEMBL
    A0ACI8QAR2, A0ACI8QYU2
    Related
    ENSP00000558031.1, ENST00000887972.2

  37. NM_001413873.1 → NP_001400802.1  aspartyl/asparaginyl beta-hydroxylase isoform 32

    Status: REVIEWED

    Source sequence(s)
    AC067881, AC090094
    UniProtKB/TrEMBL
    A0ACI8QQY6, A0ACI8UQE2
    Related
    ENSP00000557993.1, ENST00000887934.2

  38. NM_001413874.1 → NP_001400803.1  aspartyl/asparaginyl beta-hydroxylase isoform 33

    Status: REVIEWED

    Source sequence(s)
    AC067881, AC090094
    UniProtKB/TrEMBL
    A0ACI8RWX7, A0ACI8UL51
    Related
    ENSP00000558012.1, ENST00000887953.2

  39. NM_001413875.1 → NP_001400804.1  aspartyl/asparaginyl beta-hydroxylase isoform 34

    Status: REVIEWED

    Source sequence(s)
    AC067881, AC090094
    UniProtKB/TrEMBL
    A0ACI8UNI6

  40. NM_001413876.1 → NP_001400805.1  aspartyl/asparaginyl beta-hydroxylase isoform 35

    Status: REVIEWED

    Source sequence(s)
    AC067881, AC090094
    UniProtKB/TrEMBL
    A0ACI8UQE2
    Related
    ENSP00000620839.1, ENST00000950780.2

  41. NM_001413877.1 → NP_001400806.1  aspartyl/asparaginyl beta-hydroxylase isoform 75

    Status: REVIEWED

    Source sequence(s)
    AC067881, AC090094
    UniProtKB/TrEMBL
    A0ACI8R9A9, A0ACI8UL01
    Related
    ENSP00000557995.1, ENST00000887936.2

  42. NM_001413878.1 → NP_001400807.1  aspartyl/asparaginyl beta-hydroxylase isoform 36

    Status: REVIEWED

    Source sequence(s)
    AC067881, AC090094
    UniProtKB/TrEMBL
    A0ACI8RDZ1, A0ACI8UQE2
    Related
    ENSP00000558011.1, ENST00000887952.2

  43. NM_001413879.1 → NP_001400808.1  aspartyl/asparaginyl beta-hydroxylase isoform 37

    Status: REVIEWED

    Source sequence(s)
    AC067881, AC090094
    UniProtKB/TrEMBL
    A0ACI8Q8U4, A0ACI8UQE2
    Related
    ENSP00000558000.1, ENST00000887941.2

  44. NM_001413880.1 → NP_001400809.1  aspartyl/asparaginyl beta-hydroxylase isoform 38

    Status: REVIEWED

    Source sequence(s)
    AC067881, AC090094
    UniProtKB/TrEMBL
    A0ACI8QD99, A0ACI8RWW7
    Related
    ENSP00000557987.1, ENST00000887928.2

  45. NM_001413881.1 → NP_001400810.1  aspartyl/asparaginyl beta-hydroxylase isoform 39

    Status: REVIEWED

    Source sequence(s)
    AC067881, AC090094
    UniProtKB/TrEMBL
    A0ACI8S4P5, A0ACI8SMT9
    Related
    ENSP00000583439.1, ENST00000913380.2

  46. NM_001413882.1 → NP_001400811.1  aspartyl/asparaginyl beta-hydroxylase isoform 40

    Status: REVIEWED

    Source sequence(s)
    AC067881, AC090094
    UniProtKB/TrEMBL
    A0ACI8QD99, A0ACI8SB74
    Related
    ENSP00000557998.1, ENST00000887939.2

  47. NM_001413883.1 → NP_001400812.1  aspartyl/asparaginyl beta-hydroxylase isoform 41

    Status: REVIEWED

    Source sequence(s)
    AC067881, AC090094
    UniProtKB/TrEMBL
    A0ACI8UQE2

  48. NM_001413884.1 → NP_001400813.1  aspartyl/asparaginyl beta-hydroxylase isoform 42

    Status: REVIEWED

    Source sequence(s)
    AC067881, AC090094
    UniProtKB/TrEMBL
    A0ACI8UQE2

  49. NM_001413885.1 → NP_001400814.1  aspartyl/asparaginyl beta-hydroxylase isoform 43

    Status: REVIEWED

    Source sequence(s)
    AC067881, AC090094
    UniProtKB/TrEMBL
    A0ACI8UL01
    Related
    ENSP00000558027.1, ENST00000887968.2

  50. NM_001413886.1 → NP_001400815.1  aspartyl/asparaginyl beta-hydroxylase isoform 44

    Status: REVIEWED

    Source sequence(s)
    AC067881, AC090094
    UniProtKB/TrEMBL
    A0ACI8QD99, A0ACI8S840
    Related
    ENSP00000557991.1, ENST00000887932.2

  51. NM_001413887.1 → NP_001400816.1  aspartyl/asparaginyl beta-hydroxylase isoform 76

    Status: REVIEWED

    Source sequence(s)
    AC067881, AC090094
    UniProtKB/TrEMBL
    A0ACI8R0Z0, A0ACI8ULA0
    Related
    ENSP00000558022.1, ENST00000887963.2

  52. NM_001413888.1 → NP_001400817.1  aspartyl/asparaginyl beta-hydroxylase isoform 45

    Status: REVIEWED

    Source sequence(s)
    AC067881, AC090094
    UniProtKB/TrEMBL
    A0ACI8SCS0, A0ACI8UL47
    Related
    ENSP00000557988.1, ENST00000887929.2

  53. NM_001413889.1 → NP_001400818.1  aspartyl/asparaginyl beta-hydroxylase isoform 46

    Status: REVIEWED

    Source sequence(s)
    AC067881, AC090094
    UniProtKB/TrEMBL
    A0ACI8UNI6

  54. NM_001413890.1 → NP_001400819.1  aspartyl/asparaginyl beta-hydroxylase isoform 47

    Status: REVIEWED

    Source sequence(s)
    AC067881, AC090094
    UniProtKB/TrEMBL
    A0ACI8UQE2

  55. NM_001413891.1 → NP_001400820.1  aspartyl/asparaginyl beta-hydroxylase isoform 48

    Status: REVIEWED

    Source sequence(s)
    AC067881, AC090094
    UniProtKB/TrEMBL
    A0ACI8SMM1
    Related
    ENSP00000700332.1, ENST00001030515.1

  56. NM_001413893.1 → NP_001400822.1  aspartyl/asparaginyl beta-hydroxylase isoform 49

    Status: REVIEWED

    Source sequence(s)
    AC067881, AC090094
    UniProtKB/TrEMBL
    A0ACI8SMM1

  57. NM_001413894.1 → NP_001400823.1  aspartyl/asparaginyl beta-hydroxylase isoform 50

    Status: REVIEWED

    Source sequence(s)
    AC067881, AC090094
    UniProtKB/TrEMBL
    A0ACI8Q903

  58. NM_001413895.1 → NP_001400824.1  aspartyl/asparaginyl beta-hydroxylase isoform 51

    Status: REVIEWED

    Source sequence(s)
    AC067881, AC090094
    UniProtKB/TrEMBL
    A0ACI8UL47

  59. NM_001413896.1 → NP_001400825.1  aspartyl/asparaginyl beta-hydroxylase isoform 52

    Status: REVIEWED

    Source sequence(s)
    AC067881, AC090094
    UniProtKB/TrEMBL
    A0ACI8R9C5
    Related
    ENSP00000700336.1, ENST00001030519.1

  60. NM_001413897.1 → NP_001400826.1  aspartyl/asparaginyl beta-hydroxylase isoform 53

    Status: REVIEWED

    Source sequence(s)
    AC067881, AC090094
    UniProtKB/TrEMBL
    A0ACI8UQE2
    Related
    ENSP00000752222.1, ENST00001082416.1

  61. NM_001413898.1 → NP_001400827.1  aspartyl/asparaginyl beta-hydroxylase isoform 54

    Status: REVIEWED

    Source sequence(s)
    AC067881, AC090094
    UniProtKB/TrEMBL
    A0ACI8UQF0
    Related
    ENSP00000620849.1, ENST00000950790.2

  62. NM_001413899.1 → NP_001400828.1  aspartyl/asparaginyl beta-hydroxylase isoform 55

    Status: REVIEWED

    Source sequence(s)
    AC067881, AC090094
    UniProtKB/TrEMBL
    A0ACI8UQE6
    Related
    ENSP00000620850.1, ENST00000950791.2

  63. NM_001413900.1 → NP_001400829.1  aspartyl/asparaginyl beta-hydroxylase isoform 56

    Status: REVIEWED

    Source sequence(s)
    AC067881, AC090094
    UniProtKB/TrEMBL
    A0ACI8RJ60, A0ACI8UQF0
    Related
    ENSP00000558017.1, ENST00000887958.2

  64. NM_001413901.1 → NP_001400830.1  aspartyl/asparaginyl beta-hydroxylase isoform 58

    Status: REVIEWED

    Source sequence(s)
    AC067881, AC090094
    UniProtKB/TrEMBL
    A0ACI8Q8W3, A0ACI8QKT6
    Related
    ENSP00000558026.1, ENST00000887967.2

  65. NM_001413902.1 → NP_001400831.1  aspartyl/asparaginyl beta-hydroxylase isoform 2

    Status: REVIEWED

    Source sequence(s)
    AC067881
    UniProtKB/TrEMBL
    E5RG56

  66. NM_001413903.1 → NP_001400832.1  aspartyl/asparaginyl beta-hydroxylase isoform 59

    Status: REVIEWED

    Source sequence(s)
    AC067881
    UniProtKB/TrEMBL
    A8K721
    Related
    ENSP00000700365.1, ENST00001030548.1

  67. NM_001413904.1 → NP_001400833.1  aspartyl/asparaginyl beta-hydroxylase isoform 60

    Status: REVIEWED

    Source sequence(s)
    AC067881
    UniProtKB/TrEMBL
    A8K721
    Related
    ENSP00000700353.1, ENST00001030536.1

  68. NM_001413905.1 → NP_001400834.1  aspartyl/asparaginyl beta-hydroxylase isoform 61

    Status: REVIEWED

    Source sequence(s)
    AC067881
    UniProtKB/TrEMBL
    B4DQ07

  69. NM_001413906.1 → NP_001400835.1  aspartyl/asparaginyl beta-hydroxylase isoform 62

    Status: REVIEWED

    Source sequence(s)
    AC067881
    Related
    ENSP00000700363.1, ENST00001030546.1

  70. NM_001413907.1 → NP_001400836.1  aspartyl/asparaginyl beta-hydroxylase isoform 63

    Status: REVIEWED

    Source sequence(s)
    AC067881

  71. NM_001413908.1 → NP_001400837.1  aspartyl/asparaginyl beta-hydroxylase isoform 64

    Status: REVIEWED

    Source sequence(s)
    AC067881
    UniProtKB/TrEMBL
    E5RG29
    Related
    ENSP00000427877.1, ENST00000518306.5

  72. NM_001413909.1 → NP_001400838.1  aspartyl/asparaginyl beta-hydroxylase isoform 57

    Status: REVIEWED

    Source sequence(s)
    AC067881, AC090094
    UniProtKB/TrEMBL
    A0ACI8QKT6

  73. NM_001439196.1 → NP_001426125.1  aspartyl/asparaginyl beta-hydroxylase isoform 77

    Status: REVIEWED

    Source sequence(s)
    AC067881
    UniProtKB/TrEMBL
    G3XAN5
    Related
    ENSP00000428060.1, ENST00000517661.5

  74. NM_004318.4 → NP_004309.2  aspartyl/asparaginyl beta-hydroxylase isoform 1

    See identical proteins and their annotated locations for NP_004309.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform. The distinct C-terminus of this isoform has enzymatic activity which hydroxylates the beta carbon of aspartic acid or asparagine residues in certain epidermal growth factor-like domains of proteins such as protein C, coagulation factors VII, IX, and X, and the complement factors C1R and C1S. This variant is widely expressed among heart, placenta, skeletal muscle, kidney, and lung tissues.
    Source sequence(s)
    AC067881, AC090094, S83325, U03109
    Consensus CDS
    CCDS34898.1
    UniProtKB/Swiss-Prot
    A0A0A0MSK8, A6NDF4, A6NHI2, B4DIC9, B4E2K4, B7ZM95, E5RGP5, F5H667, Q12797, Q6NXR7, Q8TB28, Q9H291, Q9H2C4, Q9NRI0, Q9NRI1, Q9Y4J0
    UniProtKB/TrEMBL
    A0ACI8SMM1
    Related
    ENSP00000368767.4, ENST00000379454.9
    Conserved Domains (5) summary
    TIGR02795
    Location:342 → 455
    tol_pal_ybgF; tol-pal system protein YbgF
    pfam05279
    Location:43 → 310
    Asp-B-Hydro_N; Aspartyl beta-hydroxylase N-terminal region
    sd00006
    Location:458 → 482
    TPR; TPR repeat [structural motif]
    pfam05118
    Location:591 → 744
    Asp_Arg_Hydrox; Aspartyl/Asparaginyl beta-hydroxylase
    pfam13428
    Location:345 → 384
    TPR_14; Tetratricopeptide repeat

  75. NM_020164.5 → NP_064549.1  aspartyl/asparaginyl beta-hydroxylase isoform 5

    See identical proteins and their annotated locations for NP_064549.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) represents use of an alternate promoter and 5' UTR, uses a distinct start codon, includes an alternate in-frame exon, and uses a distinct 3' splice pattern that lacks many coding exons, compared to variant 1. The encoded isoform (e) has a slightly shorter and distinct N-terminus and some overlap with the N-terminus of isoform a. This isoform lacks the catalytic domain and enzymatic function of isoform a. This isoform has also been referred to as junctin isoform 1 and forms a complex with calsequestrin, triadin, and the ryanodine receptor by direct interaction at the C-terminal part of the molecule. This protein appears to stabilize the complex and plays a crucial role in the regulation of calcium release from the sarcoplasmic reticulum. This variant is expressed in cardiac and skeletal muscle.
    Source sequence(s)
    AC067881, AF224469, BX102882, DN993915
    Consensus CDS
    CCDS34900.1
    UniProtKB/Swiss-Prot
    Q12797
    Related
    ENSP00000373856.4, ENST00000389204.9
    Conserved Domains (1) summary
    pfam05279
    Location:14 → 205
    Asp-B-Hydro_N; Aspartyl beta-hydroxylase N-terminal region

  76. NM_032466.4 → NP_115855.1  aspartyl/asparaginyl beta-hydroxylase isoform 3

    See identical proteins and their annotated locations for NP_115855.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) uses a distinct 3' splice pattern that lacks many coding exons, compared to variant 1. The encoded isoform (c), also known as humbug, is identical to the N-terminal and central region of isoform a. Because this transcript variant lacks the alternative 3' terminal exon which encodes a catalytic domain for isoform a, isoform c is considered a noncatalytic isoform. This variant is widely expressed among heart, placenta, skeletal muscle, kidney, and lung tissues.
    Source sequence(s)
    AC067881, AF289489, BC025236, BU623111
    Consensus CDS
    CCDS43742.1
    UniProtKB/TrEMBL
    A8K721
    Related
    ENSP00000348841.5, ENST00000356457.10
    Conserved Domains (1) summary
    pfam05279
    Location:43 → 310
    Asp-B-Hydro_N; Aspartyl beta-hydroxylase N-terminal region

  77. NM_032467.4 → NP_115856.1  aspartyl/asparaginyl beta-hydroxylase isoform 4

    See identical proteins and their annotated locations for NP_115856.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) represents use of an alternate promoter and 5' UTR, uses a distinct start codon, and uses a distinct 3' splice pattern that lacks many coding exons, compared to variant 1. The encoded isoform (d) has a slightly shorter and distinct N-terminus and some overlap with the N-terminus of isoform a, but lacks the catalytic domain and enzymatic function of isoform a. This isoform has also been referred to as junctin and forms a complex with calsequestrin, triadin, and the ryanodine receptor by direct interaction at the C-terminal part of the molecule. This protein appears to stabilize the complex and plays a crucial role in the regulation of calcium release from the sarcoplasmic reticulum. This variant is expressed in cardiac and skeletal muscle.
    Source sequence(s)
    AC067881, AF224468, BX102882, DN993915
    Consensus CDS
    CCDS34899.1
    UniProtKB/Swiss-Prot
    Q12797
    Related
    ENSP00000436188.1, ENST00000522603.5
    Conserved Domains (1) summary
    pfam05279
    Location:14 → 190
    Asp-B-Hydro_N; Aspartyl beta-hydroxylase N-terminal region

  78. NM_032468.5 → NP_115857.1  aspartyl/asparaginyl beta-hydroxylase isoform 2

    See identical proteins and their annotated locations for NP_115857.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) represents use of an alternate promoter and 5' UTR, uses a distinct start codon, includes an alternate in-frame exon, and uses a distinct 3' splice pattern that lacks many coding exons, compared to variant 1. The encoded isoform (b) shares residues with the central region of isoform a. This isoform lacks the catalytic domain and enzymatic function of isoform a. Isoform b has also been referred to as junctate and is located in both the endoplasmic and sarcoplasmic reticulum. Calcium binding properties of this isoform suggest an active role in the calcium storage and release process in the endoplasmic reticulum. This variant is expressed in heart, brain, pancreas, placenta, lung, liver, kidney, and skeletal muscle tissues.
    Source sequence(s)
    AC067881, AF306765, BU623111, DN993915
    Consensus CDS
    CCDS47866.1
    UniProtKB/TrEMBL
    E5RG56
    Related
    ENSP00000429954.2, ENST00000517847.7
    Conserved Domains (1) summary
    pfam05279
    Location:14 → 296
    Asp-B-Hydro_N; Aspartyl beta-hydroxylase N-terminal region

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2025_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000008.11 Reference GRCh38.p14 Primary Assembly

    Range
    61500556..61714592 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017013430.2 → XP_016868919.1  aspartyl/asparaginyl beta-hydroxylase isoform X5

    UniProtKB/TrEMBL
    A0ACI8UQP1

  2. XM_017013420.2 → XP_016868909.1  aspartyl/asparaginyl beta-hydroxylase isoform X2

    UniProtKB/TrEMBL
    A0ACI8Q8W2

  3. XM_017013419.2 → XP_016868908.1  aspartyl/asparaginyl beta-hydroxylase isoform X1

    UniProtKB/TrEMBL
    A0ACI8Q8W2

  4. XM_017013444.2 → XP_016868933.1  aspartyl/asparaginyl beta-hydroxylase isoform X12

    UniProtKB/TrEMBL
    A0ACI8UQF3

  5. XM_047421791.1 → XP_047277747.1  aspartyl/asparaginyl beta-hydroxylase isoform X11

    UniProtKB/TrEMBL
    A0ACI8SML8

  6. XM_017013439.2 → XP_016868928.1  aspartyl/asparaginyl beta-hydroxylase isoform X8

    UniProtKB/TrEMBL
    A0ACI8SML8

  7. XM_017013431.2 → XP_016868920.1  aspartyl/asparaginyl beta-hydroxylase isoform X6

    UniProtKB/TrEMBL
    A0ACI8Q8W2

  8. XM_017013440.2 → XP_016868929.1  aspartyl/asparaginyl beta-hydroxylase isoform X9

    UniProtKB/TrEMBL
    A0ACI8UQF3

  9. XM_005251244.2 → XP_005251301.1  aspartyl/asparaginyl beta-hydroxylase isoform X10

    UniProtKB/TrEMBL
    A0ACI8UL59
    Conserved Domains (5) summary
    TIGR02795
    Location:308 → 421
    tol_pal_ybgF; tol-pal system protein YbgF
    pfam05279
    Location:14 → 276
    Asp-B-Hydro_N; Aspartyl beta-hydroxylase N-terminal region
    sd00006
    Location:424 → 448
    TPR; TPR repeat [structural motif]
    pfam05118
    Location:557 → 710
    Asp_Arg_Hydrox; Aspartyl/Asparaginyl beta-hydroxylase
    pfam13428
    Location:311 → 350
    TPR_14; Tetratricopeptide repeat

  10. XM_017013435.2 → XP_016868924.1  aspartyl/asparaginyl beta-hydroxylase isoform X7

    UniProtKB/TrEMBL
    A0ACI8RVB5

  11. XM_017013427.2 → XP_016868916.1  aspartyl/asparaginyl beta-hydroxylase isoform X4

    UniProtKB/TrEMBL
    A0ACI8Q8W2

  12. XM_017013426.2 → XP_016868915.1  aspartyl/asparaginyl beta-hydroxylase isoform X3

    UniProtKB/TrEMBL
    A0ACI8Q8W2

  13. XM_047421793.1 → XP_047277749.1  aspartyl/asparaginyl beta-hydroxylase isoform X16

    UniProtKB/TrEMBL
    B3GQE5
    Related
    ENSP00000663907.1, ENST00000994090.1

  14. XM_047421792.1 → XP_047277748.1  aspartyl/asparaginyl beta-hydroxylase isoform X14

    UniProtKB/TrEMBL
    Q6PJH4
    Related
    ENSP00000700338.1, ENST00001030521.1

  15. XM_024447157.2 → XP_024302925.1  aspartyl/asparaginyl beta-hydroxylase isoform X13

    UniProtKB/TrEMBL
    B3GQE5
    Related
    ENSP00000700339.1, ENST00001030522.1
    Conserved Domains (1) summary
    pfam05279
    Location:43 → 310
    Asp-B-Hydro_N; Aspartyl beta-hydroxylase N-terminal region

  16. XM_024447158.2 → XP_024302926.1  aspartyl/asparaginyl beta-hydroxylase isoform X15

    UniProtKB/TrEMBL
    B3GQE5
    Conserved Domains (1) summary
    pfam05279
    Location:14 → 281
    Asp-B-Hydro_N; Aspartyl beta-hydroxylase N-terminal region

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060932.1 Alternate T2T-CHM13v2.0

    Range
    61924301..62138323 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054360485.1 → XP_054216460.1  aspartyl/asparaginyl beta-hydroxylase isoform X5

    UniProtKB/TrEMBL
    A0ACI8UQP1

  2. XM_054360482.1 → XP_054216457.1  aspartyl/asparaginyl beta-hydroxylase isoform X2

    UniProtKB/TrEMBL
    A0ACI8Q8W2

  3. XM_054360481.1 → XP_054216456.1  aspartyl/asparaginyl beta-hydroxylase isoform X1

    UniProtKB/TrEMBL
    A0ACI8Q8W2

  4. XM_054360492.1 → XP_054216467.1  aspartyl/asparaginyl beta-hydroxylase isoform X12

    UniProtKB/TrEMBL
    A0ACI8UQF3

  5. XM_054360491.1 → XP_054216466.1  aspartyl/asparaginyl beta-hydroxylase isoform X11

    UniProtKB/TrEMBL
    A0ACI8SML8

  6. XM_054360488.1 → XP_054216463.1  aspartyl/asparaginyl beta-hydroxylase isoform X8

    UniProtKB/TrEMBL
    A0ACI8SML8

  7. XM_054360486.1 → XP_054216461.1  aspartyl/asparaginyl beta-hydroxylase isoform X6

    UniProtKB/TrEMBL
    A0ACI8Q8W2

  8. XM_054360489.1 → XP_054216464.1  aspartyl/asparaginyl beta-hydroxylase isoform X9

    UniProtKB/TrEMBL
    A0ACI8UQF3

  9. XM_054360490.1 → XP_054216465.1  aspartyl/asparaginyl beta-hydroxylase isoform X10

    UniProtKB/TrEMBL
    A0ACI8UL59

  10. XM_054360487.1 → XP_054216462.1  aspartyl/asparaginyl beta-hydroxylase isoform X7

    UniProtKB/TrEMBL
    A0ACI8RVB5

  11. XM_054360484.1 → XP_054216459.1  aspartyl/asparaginyl beta-hydroxylase isoform X4

    UniProtKB/TrEMBL
    A0ACI8Q8W2

  12. XM_054360483.1 → XP_054216458.1  aspartyl/asparaginyl beta-hydroxylase isoform X3

    UniProtKB/TrEMBL
    A0ACI8Q8W2

  13. XM_054360496.1 → XP_054216471.1  aspartyl/asparaginyl beta-hydroxylase isoform X16

    UniProtKB/TrEMBL
    B3GQE5

  14. XM_054360494.1 → XP_054216469.1  aspartyl/asparaginyl beta-hydroxylase isoform X14

    UniProtKB/TrEMBL
    Q6PJH4

  15. XM_054360493.1 → XP_054216468.1  aspartyl/asparaginyl beta-hydroxylase isoform X13

    UniProtKB/TrEMBL
    B3GQE5

  16. XM_054360495.1 → XP_054216470.1  aspartyl/asparaginyl beta-hydroxylase isoform X15

    UniProtKB/TrEMBL
    B3GQE5
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q12797.3 GenPept UniProtKB/Swiss-Prot:Q12797

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