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

Gene ID: 81603, updated on 27-Nov-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
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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_2024_08 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (102644479..102658319)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (103530264..103544111)
RS_2024_09 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 ARF 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)

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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.

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

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_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)