U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

HIGD1C HIG1 hypoxia inducible domain family member 1C [ Homo sapiens (human) ]

Gene ID: 613227, updated on 5-Mar-2024

Summary

Go to the top of the page Help
Official Symbol
HIGD1Cprovided by HGNC
Official Full Name
HIG1 hypoxia inducible domain family member 1Cprovided by HGNC
Primary source
HGNC:HGNC:28044
See related
Ensembl:ENSG00000214511 AllianceGenome:HGNC:28044
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
GM921
Summary
Predicted to be involved in mitochondrial respirasome assembly. Predicted to be integral component of membrane. Predicted to be active in mitochondrion. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Low expression observed in reference dataset See more
Orthologs
mouse all
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

Go to the top of the page Help
Location:
12q13.12
Exon count:
8
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (50931110..50972592)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (50896613..50935936)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (51346327..51364390)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene RNA, 7SL, cytoplasmic 519, pseudogene Neighboring gene transmembrane serine protease 12 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:51251231-51251732 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:51251733-51252232 Neighboring gene CRISPRi-validated cis-regulatory element chr12.1615 Neighboring gene MPRA-validated peak1732 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6365 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:51319135-51319678 Neighboring gene Sharpr-MPRA regulatory region 4642 Neighboring gene thiol methyltransferase 1A Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:51346409-51346909 Neighboring gene solute carrier family 11 member 2 Neighboring gene MPRA-validated peak1733 silencer Neighboring gene RNA, U7 small nuclear 39 pseudogene Neighboring gene RNA, U6 small nuclear 87, pseudogene

Genomic regions, transcripts, and products

Go to the top of the page Help

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help
  • 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

Go to the top of the pageHelp

Related articles in PubMed

  1. A scan for positively selected genes in the genomes of humans and chimpanzees. Nielsen R, et al. PLoS Biol, 2005 Jun. PMID 15869325, Free PMC Article
  2. Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls. Wellcome Trust Case Control Consortium. Nature, 2007 Jun 7. PMID 17554300, Free PMC Article
  3. The finished DNA sequence of human chromosome 12. Scherer SE, et al. Nature, 2006 Mar 16. PMID 16541075
  4. UFMylation maintains tumour suppressor p53 stability by antagonizing its ubiquitination. Liu J, et al. Nat Cell Biol, 2020 Sep. PMID 32807901
  5. Extensive rewiring of the EGFR network in colorectal cancer cells expressing transforming levels of KRAS(G13D). Kennedy SA, et al. Nat Commun, 2020 Jan 24. PMID 31980649, Free PMC Article

See all (7) citations in PubMed

GeneRIFs: Gene References Into Functions

Phenotypes

Go to the top of the page Help

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

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls.
EBI GWAS Catalog

Variation

Go to the top of the page Help

See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Interactions

Go to the top of the page Help
Products Interactant Other Gene Complex Source Pubs Description

General gene information

Go to the top of the page Help

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in mitochondrial respirasome assembly IBA
Inferred from Biological aspect of Ancestor
more info
  
Component Evidence Code Pubs
located_in membrane IEA
Inferred from Electronic Annotation
more info
  
is_active_in mitochondrion IBA
Inferred from Biological aspect of Ancestor
more info
  

General protein information

Go to the top of the page Help
Preferred Names
HIG1 domain family member 1C
Names
HIG1 domain family, member 1C

NCBI Reference Sequences (RefSeq)

Go to the top of the page Help

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.

mRNA and Protein(s)

  1. NM_001109619.4 → NP_001103089.1  HIG1 domain family member 1C

    See identical proteins and their annotated locations for NP_001103089.1

    Status: VALIDATED

    Source sequence(s)
    AC008121
    Consensus CDS
    CCDS44882.1
    UniProtKB/Swiss-Prot
    A8MV81
    UniProtKB/TrEMBL
    A0A8Q3SID1
    Related
    ENSP00000512274.1, ENST00000695931.1
    Conserved Domains (1) summary
    pfam04588
    Location:27 → 77
    HIG_1_N; Hypoxia induced protein conserved region

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000012.12 Reference GRCh38.p14 Primary Assembly

    Range
    50931110..50972592
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017019783.3 → XP_016875272.1  HIG1 domain family member 1C isoform X1

  2. XM_017019784.3 → XP_016875273.1  HIG1 domain family member 1C isoform X2

  3. XM_011538649.3 → XP_011536951.1  HIG1 domain family member 1C isoform X4

    Conserved Domains (1) summary
    pfam04588
    Location:27 → 75
    HIG_1_N; Hypoxia induced protein conserved region

  4. XM_017019785.2 → XP_016875274.1  HIG1 domain family member 1C isoform X3

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060936.1 Alternate T2T-CHM13v2.0

    Range
    50896613..50935936
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054372832.1 → XP_054228807.1  HIG1 domain family member 1C isoform X1

  2. XM_054372833.1 → XP_054228808.1  HIG1 domain family member 1C isoform X2

  3. XM_054372835.1 → XP_054228810.1  HIG1 domain family member 1C isoform X4

  4. XM_054372834.1 → XP_054228809.1  HIG1 domain family member 1C isoform X3

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
A8MV81.2 GenPept UniProtKB/Swiss-Prot:A8MV81

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

Chemical Information
Molecular Biology Databases
Research Materials
Tools
Miscellaneous