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

Gene ID: 444, updated on 27-Nov-2024

Summary

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
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Genomic context

See ASPH in Genome Data Viewer
Location:
8q12.3
Exon count:
33
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (61500556..61714592, complement)
RS_2024_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 intergenic non-protein coding RNA 2842

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

HIV-1 interactions

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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

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 electron transfer activity TAS
Traceable Author Statement
more info
PubMed 
enables peptidyl-aspartic acid 3-dioxygenase activity IBA
Inferred from Biological aspect of Ancestor
more info
 
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 cysteine-type endopeptidase activity IDA
Inferred from Direct Assay
more info
PubMed 
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 cell population proliferation IEA
Inferred from Electronic Annotation
more info
 
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 face morphogenesis IEA
Inferred from Electronic Annotation
more info
 
involved_in limb morphogenesis IEA
Inferred from Electronic Annotation
more info
 
involved_in muscle contraction TAS
Traceable Author Statement
more info
PubMed 
involved_in negative regulation of cell population proliferation IEA
Inferred from Electronic Annotation
more info
 
involved_in pattern specification process IEA
Inferred from Electronic Annotation
more info
 
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 positive regulation of ryanodine-sensitive calcium-release channel activity TAS
Traceable Author Statement
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 inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity IDA
Inferred from Direct Assay
more info
PubMed 
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 regulation of ryanodine-sensitive calcium-release channel activity TAS
Traceable Author Statement
more info
PubMed 
involved_in response to ATP IDA
Inferred from Direct Assay
more info
PubMed 
involved_in roof of mouth development IEA
Inferred from Electronic Annotation
more info
 

General protein information

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_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_024302927.1
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
XP_054216472.1

NCBI Reference Sequences (RefSeq)

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_001164750.2NP_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/Swiss-Prot
    Q12797
    Related
    ENSP00000437864.1, ENST00000541428.5
    Conserved Domains (5) summary
    TIGR02795
    Location:313426
    tol_pal_ybgF; tol-pal system protein YbgF
    pfam05279
    Location:14281
    Asp-B-Hydro_N; Aspartyl beta-hydroxylase N-terminal region
    sd00006
    Location:429453
    TPR; TPR repeat [structural motif]
    pfam05118
    Location:562715
    Asp_Arg_Hydrox; Aspartyl/Asparaginyl beta-hydroxylase
    pfam13428
    Location:316355
    TPR_14; Tetratricopeptide repeat
  2. NM_001164751.2NP_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:14295
    Asp-B-Hydro_N; Aspartyl beta-hydroxylase N-terminal region
  3. NM_001164752.2NP_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:14276
    Asp-B-Hydro_N; Aspartyl beta-hydroxylase N-terminal region
  4. NM_001164753.2NP_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:14253
    Asp-B-Hydro_N; Aspartyl beta-hydroxylase N-terminal region
  5. NM_001164754.2NP_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, ENST00000445642.6
    Conserved Domains (1) summary
    pfam05279
    Location:43291
    Asp-B-Hydro_N; Aspartyl beta-hydroxylase N-terminal region
  6. NM_001164755.2NP_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, ENST00000518068.5
    Conserved Domains (1) summary
    pfam05279
    Location:43267
    Asp-B-Hydro_N; Aspartyl beta-hydroxylase N-terminal region
  7. NM_001164756.2NP_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, ENST00000379449.11
    Conserved Domains (1) summary
    pfam05279
    Location:43146
    Asp-B-Hydro_N; Aspartyl beta-hydroxylase N-terminal region
  8. NM_001413844.1NP_001400773.1  aspartyl/asparaginyl beta-hydroxylase isoform 13

    Status: REVIEWED

    Source sequence(s)
    AC067881, AC090094
  9. NM_001413845.1NP_001400774.1  aspartyl/asparaginyl beta-hydroxylase isoform 14

    Status: REVIEWED

    Source sequence(s)
    AC067881, AC090094
  10. NM_001413846.1NP_001400775.1  aspartyl/asparaginyl beta-hydroxylase isoform 15

    Status: REVIEWED

    Source sequence(s)
    AC067881, AC090094
  11. NM_001413847.1NP_001400776.1  aspartyl/asparaginyl beta-hydroxylase isoform 16

    Status: REVIEWED

    Source sequence(s)
    AC067881, AC090094
  12. NM_001413848.1NP_001400777.1  aspartyl/asparaginyl beta-hydroxylase isoform 17

    Status: REVIEWED

    Source sequence(s)
    AC067881, AC090094
  13. NM_001413849.1NP_001400778.1  aspartyl/asparaginyl beta-hydroxylase isoform 1

    Status: REVIEWED

    Source sequence(s)
    AC067881, AC090094
  14. NM_001413850.1NP_001400779.1  aspartyl/asparaginyl beta-hydroxylase isoform 18

    Status: REVIEWED

    Source sequence(s)
    AC067881, AC090094
  15. NM_001413851.1NP_001400780.1  aspartyl/asparaginyl beta-hydroxylase isoform 18

    Status: REVIEWED

    Source sequence(s)
    AC067881, AC090094
  16. NM_001413852.1NP_001400781.1  aspartyl/asparaginyl beta-hydroxylase isoform 19

    Status: REVIEWED

    Source sequence(s)
    AC067881, AC090094
  17. NM_001413853.1NP_001400782.1  aspartyl/asparaginyl beta-hydroxylase isoform 20

    Status: REVIEWED

    Source sequence(s)
    AC067881, AC090094
  18. NM_001413854.1NP_001400783.1  aspartyl/asparaginyl beta-hydroxylase isoform 21

    Status: REVIEWED

    Source sequence(s)
    AC067881, AC090094
  19. NM_001413855.1NP_001400784.1  aspartyl/asparaginyl beta-hydroxylase isoform 21

    Status: REVIEWED

    Source sequence(s)
    AC067881, AC090094
  20. NM_001413856.1NP_001400785.1  aspartyl/asparaginyl beta-hydroxylase isoform 21

    Status: REVIEWED

    Source sequence(s)
    AC067881, AC090094
  21. NM_001413857.1NP_001400786.1  aspartyl/asparaginyl beta-hydroxylase isoform 22

    Status: REVIEWED

    Source sequence(s)
    AC067881, AC090094
  22. NM_001413858.1NP_001400787.1  aspartyl/asparaginyl beta-hydroxylase isoform 23

    Status: REVIEWED

    Source sequence(s)
    AC067881, AC090094
  23. NM_001413859.1NP_001400788.1  aspartyl/asparaginyl beta-hydroxylase isoform 23

    Status: REVIEWED

    Source sequence(s)
    AC067881, AC090094
  24. NM_001413860.1NP_001400789.1  aspartyl/asparaginyl beta-hydroxylase isoform 24

    Status: REVIEWED

    Source sequence(s)
    AC067881, AC090094
  25. NM_001413861.1NP_001400790.1  aspartyl/asparaginyl beta-hydroxylase isoform 25

    Status: REVIEWED

    Source sequence(s)
    AC067881, AC090094
  26. NM_001413862.1NP_001400791.1  aspartyl/asparaginyl beta-hydroxylase isoform 26

    Status: REVIEWED

    Source sequence(s)
    AC067881, AC090094
  27. NM_001413863.1NP_001400792.1  aspartyl/asparaginyl beta-hydroxylase isoform 27

    Status: REVIEWED

    Source sequence(s)
    AC067881, AC090094
  28. NM_001413864.1NP_001400793.1  aspartyl/asparaginyl beta-hydroxylase isoform 6

    Status: REVIEWED

    Source sequence(s)
    AC067881, AC090094
  29. NM_001413865.1NP_001400794.1  aspartyl/asparaginyl beta-hydroxylase isoform 6

    Status: REVIEWED

    Source sequence(s)
    AC067881, AC090094
  30. NM_001413866.1NP_001400795.1  aspartyl/asparaginyl beta-hydroxylase isoform 6

    Status: REVIEWED

    Source sequence(s)
    AC067881, AC090094
  31. NM_001413867.1NP_001400796.1  aspartyl/asparaginyl beta-hydroxylase isoform 28

    Status: REVIEWED

    Source sequence(s)
    AC067881, AC090094
  32. NM_001413868.1NP_001400797.1  aspartyl/asparaginyl beta-hydroxylase isoform 28

    Status: REVIEWED

    Source sequence(s)
    AC067881, AC090094
  33. NM_001413869.1NP_001400798.1  aspartyl/asparaginyl beta-hydroxylase isoform 29

    Status: REVIEWED

    Source sequence(s)
    AC067881, AC090094
  34. NM_001413870.1NP_001400799.1  aspartyl/asparaginyl beta-hydroxylase isoform 30

    Status: REVIEWED

    Source sequence(s)
    AC067881, AC090094
  35. NM_001413871.1NP_001400800.1  aspartyl/asparaginyl beta-hydroxylase isoform 31

    Status: REVIEWED

    Source sequence(s)
    AC067881, AC090094
  36. NM_001413872.1NP_001400801.1  aspartyl/asparaginyl beta-hydroxylase isoform 31

    Status: REVIEWED

    Source sequence(s)
    AC067881, AC090094
  37. NM_001413873.1NP_001400802.1  aspartyl/asparaginyl beta-hydroxylase isoform 32

    Status: REVIEWED

    Source sequence(s)
    AC067881, AC090094
  38. NM_001413874.1NP_001400803.1  aspartyl/asparaginyl beta-hydroxylase isoform 33

    Status: REVIEWED

    Source sequence(s)
    AC067881, AC090094
  39. NM_001413875.1NP_001400804.1  aspartyl/asparaginyl beta-hydroxylase isoform 34

    Status: REVIEWED

    Source sequence(s)
    AC067881, AC090094
  40. NM_001413876.1NP_001400805.1  aspartyl/asparaginyl beta-hydroxylase isoform 35

    Status: REVIEWED

    Source sequence(s)
    AC067881, AC090094
  41. NM_001413877.1NP_001400806.1  aspartyl/asparaginyl beta-hydroxylase isoform 35

    Status: REVIEWED

    Source sequence(s)
    AC067881, AC090094
  42. NM_001413878.1NP_001400807.1  aspartyl/asparaginyl beta-hydroxylase isoform 36

    Status: REVIEWED

    Source sequence(s)
    AC067881, AC090094
  43. NM_001413879.1NP_001400808.1  aspartyl/asparaginyl beta-hydroxylase isoform 37

    Status: REVIEWED

    Source sequence(s)
    AC067881, AC090094
  44. NM_001413880.1NP_001400809.1  aspartyl/asparaginyl beta-hydroxylase isoform 38

    Status: REVIEWED

    Source sequence(s)
    AC067881, AC090094
  45. NM_001413881.1NP_001400810.1  aspartyl/asparaginyl beta-hydroxylase isoform 39

    Status: REVIEWED

    Source sequence(s)
    AC067881, AC090094
  46. NM_001413882.1NP_001400811.1  aspartyl/asparaginyl beta-hydroxylase isoform 40

    Status: REVIEWED

    Source sequence(s)
    AC067881, AC090094
  47. NM_001413883.1NP_001400812.1  aspartyl/asparaginyl beta-hydroxylase isoform 41

    Status: REVIEWED

    Source sequence(s)
    AC067881, AC090094
  48. NM_001413884.1NP_001400813.1  aspartyl/asparaginyl beta-hydroxylase isoform 42

    Status: REVIEWED

    Source sequence(s)
    AC067881, AC090094
  49. NM_001413885.1NP_001400814.1  aspartyl/asparaginyl beta-hydroxylase isoform 43

    Status: REVIEWED

    Source sequence(s)
    AC067881, AC090094
  50. NM_001413886.1NP_001400815.1  aspartyl/asparaginyl beta-hydroxylase isoform 44

    Status: REVIEWED

    Source sequence(s)
    AC067881, AC090094
  51. NM_001413887.1NP_001400816.1  aspartyl/asparaginyl beta-hydroxylase isoform 44

    Status: REVIEWED

    Source sequence(s)
    AC067881, AC090094
  52. NM_001413888.1NP_001400817.1  aspartyl/asparaginyl beta-hydroxylase isoform 45

    Status: REVIEWED

    Source sequence(s)
    AC067881, AC090094
  53. NM_001413889.1NP_001400818.1  aspartyl/asparaginyl beta-hydroxylase isoform 46

    Status: REVIEWED

    Source sequence(s)
    AC067881, AC090094
  54. NM_001413890.1NP_001400819.1  aspartyl/asparaginyl beta-hydroxylase isoform 47

    Status: REVIEWED

    Source sequence(s)
    AC067881, AC090094
  55. NM_001413891.1NP_001400820.1  aspartyl/asparaginyl beta-hydroxylase isoform 48

    Status: REVIEWED

    Source sequence(s)
    AC067881, AC090094
  56. NM_001413893.1NP_001400822.1  aspartyl/asparaginyl beta-hydroxylase isoform 49

    Status: REVIEWED

    Source sequence(s)
    AC067881, AC090094
  57. NM_001413894.1NP_001400823.1  aspartyl/asparaginyl beta-hydroxylase isoform 50

    Status: REVIEWED

    Source sequence(s)
    AC067881, AC090094
  58. NM_001413895.1NP_001400824.1  aspartyl/asparaginyl beta-hydroxylase isoform 51

    Status: REVIEWED

    Source sequence(s)
    AC067881, AC090094
  59. NM_001413896.1NP_001400825.1  aspartyl/asparaginyl beta-hydroxylase isoform 52

    Status: REVIEWED

    Source sequence(s)
    AC067881, AC090094
  60. NM_001413897.1NP_001400826.1  aspartyl/asparaginyl beta-hydroxylase isoform 53

    Status: REVIEWED

    Source sequence(s)
    AC067881, AC090094
  61. NM_001413898.1NP_001400827.1  aspartyl/asparaginyl beta-hydroxylase isoform 54

    Status: REVIEWED

    Source sequence(s)
    AC067881, AC090094
  62. NM_001413899.1NP_001400828.1  aspartyl/asparaginyl beta-hydroxylase isoform 55

    Status: REVIEWED

    Source sequence(s)
    AC067881, AC090094
  63. NM_001413900.1NP_001400829.1  aspartyl/asparaginyl beta-hydroxylase isoform 56

    Status: REVIEWED

    Source sequence(s)
    AC067881, AC090094
  64. NM_001413901.1NP_001400830.1  aspartyl/asparaginyl beta-hydroxylase isoform 58

    Status: REVIEWED

    Source sequence(s)
    AC067881, AC090094
  65. NM_001413902.1NP_001400831.1  aspartyl/asparaginyl beta-hydroxylase isoform 2

    Status: REVIEWED

    Source sequence(s)
    AC067881
  66. NM_001413903.1NP_001400832.1  aspartyl/asparaginyl beta-hydroxylase isoform 59

    Status: REVIEWED

    Source sequence(s)
    AC067881
  67. NM_001413904.1NP_001400833.1  aspartyl/asparaginyl beta-hydroxylase isoform 60

    Status: REVIEWED

    Source sequence(s)
    AC067881
  68. NM_001413905.1NP_001400834.1  aspartyl/asparaginyl beta-hydroxylase isoform 61

    Status: REVIEWED

    Source sequence(s)
    AC067881
  69. NM_001413906.1NP_001400835.1  aspartyl/asparaginyl beta-hydroxylase isoform 62

    Status: REVIEWED

    Source sequence(s)
    AC067881
  70. NM_001413907.1NP_001400836.1  aspartyl/asparaginyl beta-hydroxylase isoform 63

    Status: REVIEWED

    Source sequence(s)
    AC067881
  71. NM_001413908.1NP_001400837.1  aspartyl/asparaginyl beta-hydroxylase isoform 64

    Status: REVIEWED

    Source sequence(s)
    AC067881
    Related
    ENSP00000427877.1, ENST00000518306.5
  72. NM_001413909.1NP_001400838.1  aspartyl/asparaginyl beta-hydroxylase isoform 57

    Status: REVIEWED

    Source sequence(s)
    AC067881, AC090094
  73. NM_004318.4NP_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
    Related
    ENSP00000368767.4, ENST00000379454.9
    Conserved Domains (5) summary
    TIGR02795
    Location:342455
    tol_pal_ybgF; tol-pal system protein YbgF
    pfam05279
    Location:43310
    Asp-B-Hydro_N; Aspartyl beta-hydroxylase N-terminal region
    sd00006
    Location:458482
    TPR; TPR repeat [structural motif]
    pfam05118
    Location:591744
    Asp_Arg_Hydrox; Aspartyl/Asparaginyl beta-hydroxylase
    pfam13428
    Location:345384
    TPR_14; Tetratricopeptide repeat
  74. NM_020164.5NP_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:14205
    Asp-B-Hydro_N; Aspartyl beta-hydroxylase N-terminal region
  75. NM_032466.4NP_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, ENST00000356457.9
    Conserved Domains (1) summary
    pfam05279
    Location:43310
    Asp-B-Hydro_N; Aspartyl beta-hydroxylase N-terminal region
  76. NM_032467.4NP_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:14190
    Asp-B-Hydro_N; Aspartyl beta-hydroxylase N-terminal region
  77. NM_032468.5NP_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:14296
    Asp-B-Hydro_N; Aspartyl beta-hydroxylase N-terminal region

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_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_017013430.2XP_016868919.1  aspartyl/asparaginyl beta-hydroxylase isoform X5

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

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

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

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

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

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

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

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

    Conserved Domains (5) summary
    TIGR02795
    Location:308421
    tol_pal_ybgF; tol-pal system protein YbgF
    pfam05279
    Location:14276
    Asp-B-Hydro_N; Aspartyl beta-hydroxylase N-terminal region
    sd00006
    Location:424448
    TPR; TPR repeat [structural motif]
    pfam05118
    Location:557710
    Asp_Arg_Hydrox; Aspartyl/Asparaginyl beta-hydroxylase
    pfam13428
    Location:311350
    TPR_14; Tetratricopeptide repeat
  10. XM_017013435.2XP_016868924.1  aspartyl/asparaginyl beta-hydroxylase isoform X7

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

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

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

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

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

    UniProtKB/TrEMBL
    B3GQE5
    Conserved Domains (1) summary
    pfam05279
    Location:43310
    Asp-B-Hydro_N; Aspartyl beta-hydroxylase N-terminal region
  16. XM_024447158.2XP_024302926.1  aspartyl/asparaginyl beta-hydroxylase isoform X15

    UniProtKB/TrEMBL
    B3GQE5
    Conserved Domains (1) summary
    pfam05279
    Location:14281
    Asp-B-Hydro_N; Aspartyl beta-hydroxylase N-terminal region
  17. XM_024447159.2XP_024302927.1  aspartyl/asparaginyl beta-hydroxylase isoform X17

    UniProtKB/TrEMBL
    G3XAN5
    Related
    ENSP00000428060.1, ENST00000517661.5
    Conserved Domains (1) summary
    pfam05279
    Location:14117
    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_054360485.1XP_054216460.1  aspartyl/asparaginyl beta-hydroxylase isoform X5

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

  17. XM_054360497.1XP_054216472.1  aspartyl/asparaginyl beta-hydroxylase isoform X17

    UniProtKB/TrEMBL
    G3XAN5