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

Gene ID: 613227, updated on 22-Sep-2022

Summary

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
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Genomic context

See HIGD1C in Genome Data Viewer
Location:
12q13.12
Exon count:
8
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (50931110..50972592)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (50915902..50933956)
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 transmembrane serine protease 12 Neighboring gene CRISPRi-validated cis-regulatory element chr12.1615 Neighboring gene Sharpr-MPRA regulatory region 4642 Neighboring gene thiol methyltransferase 1A Neighboring gene solute carrier family 11 member 2 Neighboring gene RNA, U7 small nuclear 39 pseudogene Neighboring gene RNA, U6 small nuclear 87, pseudogene

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

EBI GWAS Catalog

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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
PubMed 
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
PubMed 

General protein information

Preferred Names
HIG1 domain family member 1C
Names
HIG1 domain family, member 1C

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_001109619.4NP_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
    Related
    ENSP00000512274.1, ENST00000695931.1
    Conserved Domains (1) summary
    pfam04588
    Location:2777
    HIG_1_N; Hypoxia induced protein conserved region

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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_017019783.3XP_016875272.1  HIG1 domain family member 1C isoform X1

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

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

    Conserved Domains (1) summary
    pfam04588
    Location:2775
    HIG_1_N; Hypoxia induced protein conserved region
  4. XM_017019785.2XP_016875274.1  HIG1 domain family member 1C isoform X3

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060936.1 Alternate T2T-CHM13v2.0

    Range
    50915902..50933956
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)