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    GID4 GID complex subunit 4 homolog [ Homo sapiens (human) ]

    Gene ID: 79018, updated on 17-Jun-2024

    Summary

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    Official Symbol
    GID4provided by HGNC
    Official Full Name
    GID complex subunit 4 homologprovided by HGNC
    Primary source
    HGNC:HGNC:28453
    See related
    Ensembl:ENSG00000141034 MIM:617699; AllianceGenome:HGNC:28453
    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
    VID2; VID24; C17orf39
    Summary
    The multiprotein Mediator complex is a coactivator required for activation of RNA polymerase II transcription by DNA bound transcription factors. The protein encoded by this gene is thought to be a subunit of the Mediator complex. This gene is located within the Smith-Magenis syndrome region on chromosome 17. [provided by RefSeq, Jul 2008]
    Expression
    Broad expression in testis (RPKM 9.8), esophagus (RPKM 5.1) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See GID4 in Genome Data Viewer
    Location:
    17p11.2; 17p11.2
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (18039408..18068405)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (17986211..18015201)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (17942722..17971719)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene dynein regulatory complex subunit 3 Neighboring gene ribosomal protein S2 pseudogene Neighboring gene Sharpr-MPRA regulatory region 6800 Neighboring gene ReSE screen-validated silencer GRCh37_chr17:17925691-17925854 Neighboring gene ATP synthase mitochondrial F1 complex assembly factor 2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11820 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11821 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11822 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8264 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8265 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11823 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11824 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:17991145-17991646 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:17991647-17992146 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:18010366-18011013 Neighboring gene uncharacterized LOC105371566 Neighboring gene developmentally regulated GTP binding protein 2 Neighboring gene myosin XVA Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:18038431-18039424 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:18039425-18040418 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:18045565-18046530 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:18046531-18047495 Neighboring gene small nucleolar RNA U13

    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
    • 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. Molecular basis of GID4-mediated recognition of degrons for the Pro/N-end rule pathway. Dong C, et al. Nat Chem Biol, 2018 May. PMID 29632410
    2. Recognition of the gluconeogenic enzyme, Pck1, via the Gid4 E3 ligase: An in silico perspective. Ismail AM, et al. J Mol Recognit, 2020 Mar. PMID 31883179
    3. Genomic organisation of the approximately 1.5 Mb Smith-Magenis syndrome critical interval: transcription map, genomic contig, and candidate gene analysis. Lucas RE, et al. Eur J Hum Genet, 2001 Dec. PMID 11840190
    4. The mammalian CTLH complex is an E3 ubiquitin ligase that targets its subunit muskelin for degradation. Maitland MER, et al. Sci Rep, 2019 Jul 8. PMID 31285494, Free PMC Article
    5. The human GID complex engages two independent modules for substrate recruitment. Mohamed WI, et al. EMBO Rep, 2021 Nov 4. PMID 34647674, Free PMC Article

    See all (25) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Recognition of the gluconeogenic enzyme, Pck1, via the Gid4 E3 ligase: An in silico perspective.
      Title: Recognition of the gluconeogenic enzyme, Pck1, via the Gid4 E3 ligase: An in silico perspective.
    2. crystallographic analysis of human GID4 alone and in complex with various Pro/N-degrons
      Title: Molecular basis of GID4-mediated recognition of degrons for the Pro/N-end rule pathway.
    Submit: New GeneRIF Correction

    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
    Biological insights from 108 schizophrenia-associated genetic loci.
    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

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC3048

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables ubiquitin protein ligase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Process Evidence Code Pubs
    involved_in proteasome-mediated ubiquitin-dependent protein catabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    part_of ubiquitin ligase complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    glucose-induced degradation protein 4 homolog
    Names
    GID complex subunit 4, VID24 homolog
    vacuolar import and degradation 24
    vacuolar import and degradation protein 24 homolog

    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_001411057.1 → NP_001397986.1  glucose-induced degradation protein 4 homolog isoform 2

      Status: VALIDATED

      Source sequence(s)
      AC087164
      Consensus CDS
      CCDS92267.1
      UniProtKB/TrEMBL
      K4DI96
      Related
      ENSP00000365523.3, ENST00000376345.3

    2. NM_024052.5 → NP_076957.3  glucose-induced degradation protein 4 homolog isoform 1

      See identical proteins and their annotated locations for NP_076957.3

      Status: VALIDATED

      Source sequence(s)
      AC087164, AK127580, BC041829
      Consensus CDS
      CCDS11190.1
      UniProtKB/Swiss-Prot
      Q8IVV7, Q8TEB5, Q9BW50
      Related
      ENSP00000268719.4, ENST00000268719.9
      Conserved Domains (1) summary
      pfam09783
      Location:121 → 289
      Vac_ImportDeg; Vacuolar import and degradation protein

    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_000017.11 Reference GRCh38.p14 Primary Assembly

      Range
      18039408..18068405
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005256800.2 → XP_005256857.1  glucose-induced degradation protein 4 homolog isoform X1

      Conserved Domains (1) summary
      pfam09783
      Location:121 → 236
      Vac_ImportDeg; Vacuolar import and degradation protein

    2. XM_011524008.2 → XP_011522310.1  glucose-induced degradation protein 4 homolog isoform X2

      Conserved Domains (1) summary
      pfam09783
      Location:122 → 236
      Vac_ImportDeg; Vacuolar import and degradation protein

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060941.1 Alternate T2T-CHM13v2.0

      Range
      17986211..18015201
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054317124.1 → XP_054173099.1  glucose-induced degradation protein 4 homolog isoform X1

    2. XM_054317125.1 → XP_054173100.1  glucose-induced degradation protein 4 homolog isoform X2

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8IVV7.1 GenPept UniProtKB/Swiss-Prot:Q8IVV7

    Gene LinkOut

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

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