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HIGD1A HIG1 hypoxia inducible domain family member 1A [ Homo sapiens (human) ]

Gene ID: 25994, updated on 12-Feb-2021

Summary

Official Symbol
HIGD1Aprovided by HGNC
Official Full Name
HIG1 hypoxia inducible domain family member 1Aprovided by HGNC
Primary source
HGNC:HGNC:29527
See related
Ensembl:ENSG00000181061 MIM:618623
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
Also known as
HIG1; RCF1a
Expression
Ubiquitous expression in colon (RPKM 73.6), heart (RPKM 47.7) and 24 other tissues See more
Orthologs
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Genomic context

See HIGD1A in Genome Data Viewer
Location:
3p22.1
Exon count:
4
Annotation release Status Assembly Chr Location
109.20201120 current GRCh38.p13 (GCF_000001405.39) 3 NC_000003.12 (42782908..42804490, complement)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (42824400..42845982, complement)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene coiled-coil domain containing 13 Neighboring gene Sharpr-MPRA regulatory region 2509 Neighboring gene CCDC13 antisense RNA 1 Neighboring gene long intergenic non-protein coding RNA 2158 Neighboring gene MIX23 pseudogene 4 Neighboring gene Sharpr-MPRA regulatory region 10622 Neighboring gene atypical chemokine receptor 2 Neighboring gene cytochrome P450 family 8 subfamily B member 1

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?

Phenotypes

Associated conditions

Description Tests
Clozapine-induced agranulocytosis is associated with rare HLA-DQB1 and HLA-B alleles.
GeneReviews: Not available
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
GeneReviews: Not available

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • DKFZp564K247

Gene Ontology Provided by GOA

Process Evidence Code Pubs
mitochondrial respirasome assembly IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
negative regulation of apoptotic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
negative regulation of apoptotic process IDA
Inferred from Direct Assay
more info
PubMed 
regulation of transcription from RNA polymerase II promoter in response to hypoxia TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
mitochondrial inner membrane TAS
Traceable Author Statement
more info
 
mitochondrion IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
mitochondrion IDA
Inferred from Direct Assay
more info
 
nucleoplasm IDA
Inferred from Direct Assay
more info
 
protein-containing complex IDA
Inferred from Direct Assay
more info
 
respirasome IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
HIG1 domain family member 1A, mitochondrial
Names
HIG1 domain family, member 1A
RCF1 homolog A
hypoxia inducible gene 1
hypoxia-inducible gene 1 protein

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_001099668.2NP_001093138.1  HIG1 domain family member 1A, mitochondrial isoform a

    See identical proteins and their annotated locations for NP_001093138.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (a).
    Source sequence(s)
    AC099329, BC070277, BM983292, BM983580, BP208784, DA428926
    Consensus CDS
    CCDS46806.1
    UniProtKB/Swiss-Prot
    Q9Y241
    Related
    ENSP00000398064.2, ENST00000452906.3
    Conserved Domains (1) summary
    pfam04588
    Location:4292
    HIG_1_N; Hypoxia induced protein conserved region
  2. NM_001099669.2NP_001093139.1  HIG1 domain family member 1A, mitochondrial isoform b

    See identical proteins and their annotated locations for NP_001093139.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) contains a distinct 5' UTR and lacks a portion of the 5' coding region, compared to variant 1. These differences cause translation initiation at a downstream AUG and a protein (isoform b) with a shorter N-terminus compared to isoform a. Both variants 2 and 3 encode the same protein.
    Source sequence(s)
    AC099329, BC070277, BG708126, BM983292, BM983580, BP370118
    Consensus CDS
    CCDS43073.1
    UniProtKB/Swiss-Prot
    Q9Y241
    UniProtKB/TrEMBL
    A0A024R2M9
    Related
    ENSP00000402160.2, ENST00000418900.6
    Conserved Domains (1) summary
    pfam04588
    Location:2878
    HIG_1_N; Hypoxia induced protein conserved region
  3. NM_014056.4NP_054775.2  HIG1 domain family member 1A, mitochondrial isoform b

    See identical proteins and their annotated locations for NP_054775.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) contains a distinct 5' UTR and lacks a portion of the 5' coding region, compared to variant 1. These differences cause translation initiation at a downstream AUG and a protein (isoform b) with a shorter N-terminus compared to isoform a. Both variants 2 and 3 encode the same protein.
    Source sequence(s)
    AC099329, BC070277, BG708126, BM983292, BM983580
    Consensus CDS
    CCDS43073.1
    UniProtKB/Swiss-Prot
    Q9Y241
    UniProtKB/TrEMBL
    A0A024R2M9
    Related
    ENSP00000319393.7, ENST00000321331.11
    Conserved Domains (1) summary
    pfam04588
    Location:2878
    HIG_1_N; Hypoxia induced protein conserved region

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20201120

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000003.12 Reference GRCh38.p13 Primary Assembly

    Range
    42782908..42804490 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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