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

    Gene ID: 613227, updated on 2-Nov-2024

    Summary

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    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 MIM:620803; 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 located in membrane. Predicted to be active in mitochondrion. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Low expression observed in reference dataset See more
    Orthologs
    mouse all
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    Genomic context

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    See HIGD1C in Genome Data Viewer
    Location:
    12q13.12
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (50931110..50972592)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (50896613..50935936)
    RS_2024_09 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

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues 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

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    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

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    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

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    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

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    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_001109619.4 → 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_2024_08

    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
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