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ASPHD1 aspartate beta-hydroxylase domain containing 1 [ Homo sapiens (human) ]

Gene ID: 253982, updated on 23-Nov-2021

Summary

Official Symbol
ASPHD1provided by HGNC
Official Full Name
aspartate beta-hydroxylase domain containing 1provided by HGNC
Primary source
HGNC:HGNC:27380
See related
Ensembl:ENSG00000174939
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Expression
Biased expression in brain (RPKM 13.0), stomach (RPKM 3.5) and 7 other tissues See more
Orthologs
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Genomic context

See ASPHD1 in Genome Data Viewer
Location:
16p11.2
Exon count:
6
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 16 NC_000016.10 (29900392..29920688)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (29911809..29917377)

Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene CDIP transferase opposite strand, pseudogene Neighboring gene seizure related 6 homolog like 2 Neighboring gene Sharpr-MPRA regulatory region 6067 Neighboring gene potassium channel tetramerization domain containing 13 Neighboring gene KCTD13 divergent transcript Neighboring gene transmembrane protein 219

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

Phenotypes

Associated conditions

Description Tests
Biological insights from 108 schizophrenia-associated genetic loci.
GeneReviews: Not available
Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche.
GeneReviews: Not available

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables dioxygenase activity IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
involved_in peptidyl-amino acid modification IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
located_in integral component of membrane IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
aspartate beta-hydroxylase domain-containing protein 1

NCBI Reference Sequences (RefSeq)

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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.

mRNA and Protein(s)

  1. NM_181718.4NP_859069.2  aspartate beta-hydroxylase domain-containing protein 1

    See identical proteins and their annotated locations for NP_859069.2

    Status: VALIDATED

    Source sequence(s)
    AC120114, BC009033, BU193236
    Consensus CDS
    CCDS10660.1
    UniProtKB/Swiss-Prot
    Q5U4P2
    Related
    ENSP00000311447.5, ENST00000308748.10
    Conserved Domains (1) summary
    pfam05118
    Location:214372
    Asp_Arg_Hydrox; Aspartyl/Asparaginyl beta-hydroxylase

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20211119

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000016.10 Reference GRCh38.p13 Primary Assembly

    Range
    29900392..29920688
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017023107.1XP_016878596.1  aspartate beta-hydroxylase domain-containing protein 1 isoform X2

  2. XM_024450222.1XP_024305990.1  aspartate beta-hydroxylase domain-containing protein 1 isoform X1

    Related
    ENSP00000456801.1, ENST00000566693.1
    Conserved Domains (1) summary
    pfam05118
    Location:214372
    Asp_Arg_Hydrox; Aspartyl/Asparaginyl beta-hydroxylase
  3. XM_024450223.1XP_024305991.1  aspartate beta-hydroxylase domain-containing protein 1 isoform X1

    Related
    ENSP00000388036.2, ENST00000414952.6
    Conserved Domains (1) summary
    pfam05118
    Location:214372
    Asp_Arg_Hydrox; Aspartyl/Asparaginyl beta-hydroxylase

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_198907.1: Suppressed sequence

    Description
    NM_198907.1: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.
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