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    TRIM8 tripartite motif containing 8 [ Homo sapiens (human) ]

    Gene ID: 81603, updated on 30-Apr-2024

    Summary

    Official Symbol
    TRIM8provided by HGNC
    Official Full Name
    tripartite motif containing 8provided by HGNC
    Primary source
    HGNC:HGNC:15579
    See related
    Ensembl:ENSG00000171206 MIM:606125; AllianceGenome:HGNC:15579
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    GERP; RNF27; FSGSNEDS
    Summary
    This gene encodes a member of the tripartite motif (TRIM) protein family. Based on similarities to other proteins, the encoded protein is suspected to be an E3 ubiquitin-protein ligase. Regulation of this gene may be altered in some cancers. Mutations resulting in a truncated protein product have been observed in early-onset epileptic encephalopathy (EOEE). [provided by RefSeq, Sep 2016]
    Expression
    Ubiquitous expression in kidney (RPKM 42.3), fat (RPKM 41.8) and 25 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See TRIM8 in Genome Data Viewer
    Location:
    10q24.32
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (102644479..102658319)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (103530264..103544111)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (104404236..104418076)

    Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene SUFU negative regulator of hedgehog signaling Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:104356533-104357509 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:104359509-104360259 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr10:104363477-104364676 Neighboring gene RNA, U6 small nuclear 43, pseudogene Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:104388216-104388758 Neighboring gene Sharpr-MPRA regulatory region 14384 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:104391317-104392064 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:104392065-104392810 Neighboring gene Sharpr-MPRA regulatory region 2079 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2765 Neighboring gene hESC enhancers GRCh37_chr10:104402874-104403628 and GRCh37_chr10:104403629-104404384 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3941 Neighboring gene ReSE screen-validated silencer GRCh37_chr10:104405671-104405887 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3942 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:104408319-104409286 Neighboring gene uncharacterized LOC105378460 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3947 Neighboring gene TRIM8 divergent transcript Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2769 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:104428852-104429454 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:104429455-104430056 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr10:104430057-104430658 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:104433562-104434111 Neighboring gene ADP ribosylation factor like GTPase 3 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2770 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2771 Neighboring gene H3K27ac hESC enhancer GRCh37_chr10:104474219-104474795 Neighboring gene H3K27ac hESC enhancer GRCh37_chr10:104474796-104475371 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:104488530-104489304 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:104489305-104490077 Neighboring gene sideroflexin 2

    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
    Focal segmental glomerulosclerosis and neurodevelopmental syndrome
    MedGen: C5561938 OMIM: 619428 GeneReviews: Not available
    Compare labs

    EBI GWAS Catalog

    Description
    Biological insights from 108 schizophrenia-associated genetic loci.
    EBI GWAS Catalog
    Identification of 23 new prostate cancer susceptibility loci using the iCOGS custom genotyping array.
    EBI GWAS Catalog

    HIV-1 interactions

    Replication interactions

    Interaction Pubs
    Knockdown of tripartite motif containing 8 (TRIM8) by siRNA inhibits the early stages of HIV-1 replication in 293T cells infected with VSV-G pseudotyped HIV-1 PubMed

    Go to the HIV-1, Human Interaction Database

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables identical protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables mitogen-activated protein kinase kinase kinase binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein homodimerization activity IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables transcription coactivator activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables ubiquitin protein ligase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables zinc ion binding NAS
    Non-traceable Author Statement
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in PML body IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytosol TAS
    Traceable Author Statement
    more info
     
    located_in nucleus IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 

    General protein information

    Preferred Names
    E3 ubiquitin-protein ligase TRIM8
    Names
    RING-type E3 ubiquitin transferase TRIM8
    glioblastoma-expressed RING finger protein
    probable E3 ubiquitin-protein ligase TRIM8
    ring finger protein 27
    tripartite motif protein TRIM8
    NP_001332879.1
    NP_112174.2

    NCBI Reference Sequences (RefSeq)

    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.

    Genomic

    1. NG_051595.1 RefSeqGene

      Range
      4985..18824
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001345950.1NP_001332879.1  E3 ubiquitin-protein ligase TRIM8 isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an in-frame exon in the 5' coding region, compared to variant 1. The encoded isoform (2) is shorter than isoform 1.
      Source sequence(s)
      AL391121
      Conserved Domains (2) summary
      pfam00643
      Location:140182
      zf-B_box; B-box zinc finger
      cl17238
      Location:1555
      RING; RING-finger (Really Interesting New Gene) domain, a specialized type of Zn-finger of 40 to 60 residues that binds two atoms of zinc; defined by the 'cross-brace' motif C-X2-C-X(9-39)-C-X(1-3)- H-X(2-3)-(N/C/H)-X2-C-X(4-48)C-X2-C; probably involved in ...
    2. NM_030912.3NP_112174.2  E3 ubiquitin-protein ligase TRIM8 isoform 1

      See identical proteins and their annotated locations for NP_112174.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (1).
      Source sequence(s)
      AA907931, AF220034, AL391121, BG746631
      Consensus CDS
      CCDS31274.1
      UniProtKB/Swiss-Prot
      A6NI31, Q9BZR9, Q9C028
      Related
      ENSP00000496301.1, ENST00000643721.2
      Conserved Domains (3) summary
      pfam00643
      Location:140182
      zf-B_box; B-box zinc finger
      cl17238
      Location:1555
      RING; RING-finger (Really Interesting New Gene) domain, a specialized type of Zn-finger of 40 to 60 residues that binds two atoms of zinc; defined by the 'cross-brace' motif C-X2-C-X(9-39)-C-X(1-3)- H-X(2-3)-(N/C/H)-X2-C-X(4-48)C-X2-C; probably involved in ...
      cl23765
      Location:189257
      iSH2_PI3K_IA_R; Inter-Src homology 2 (iSH2) helical domain of Class IA Phosphoinositide 3-kinase Regulatory subunits

    RNA

    1. NR_144321.1 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) uses an alternate splice site in an internal exon, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AL391121
      Related
      ENST00000302424.12

    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_000010.11 Reference GRCh38.p14 Primary Assembly

      Range
      102644479..102658319
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060934.1 Alternate T2T-CHM13v2.0

      Range
      103530264..103544111
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)