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

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: mouse all
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Genomic context

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_000010.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Mutual regulation between TRIM21 and TRIM8 via K48-linked ubiquitination.
Title: Mutual regulation between TRIM21 and TRIM8 via K48-linked ubiquitination.
TRIM8: a double-edged sword in glioblastoma with the power to heal or hurt.
Title: TRIM8: a double-edged sword in glioblastoma with the power to heal or hurt.
Salvianolic acid B inhibits myocardial I/R-induced ROS generation and cell apoptosis by regulating the TRIM8/GPX1 pathway.
Title: Salvianolic acid B inhibits myocardial I/R-induced ROS generation and cell apoptosis by regulating the TRIM8/GPX1 pathway.
Circular RNA circ_0002594 regulates PDGF-BB-induced proliferation and migration of human airway smooth muscle cells via sponging miR-139-5p/TRIM8 in asthma.
Title: Circular RNA circ_0002594 regulates PDGF-BB-induced proliferation and migration of human airway smooth muscle cells via sponging miR-139-5p/TRIM8 in asthma.
Transcription factor POU3F2 regulates TRIM8 expression contributing to cellular functions implicated in schizophrenia.
Title: Transcription factor POU3F2 regulates TRIM8 expression contributing to cellular functions implicated in schizophrenia.
TRIM8 modulates the EWS/FLI oncoprotein to promote survival in Ewing sarcoma.
Title: TRIM8 modulates the EWS/FLI oncoprotein to promote survival in Ewing sarcoma.
Knockdown of TRIM8 Attenuates IL-1beta-induced Inflammatory Response in Osteoarthritis Chondrocytes Through the Inactivation of NF-kappaB Pathway.
Title: Knockdown of TRIM8 Attenuates IL-1β-induced Inflammatory Response in Osteoarthritis Chondrocytes Through the Inactivation of NF-κB Pathway.
De novo TRIM8 variants impair its protein localization to nuclear bodies and cause developmental delay, epilepsy, and focal segmental glomerulosclerosis.
Title: De novo TRIM8 variants impair its protein localization to nuclear bodies and cause developmental delay, epilepsy, and focal segmental glomerulosclerosis.
Down-regulation of long noncoding RNA LINC00472 alleviates sepsis-induced acute hepatic injury by regulating miR-373-3p/TRIM8 axis.
Title: Down-regulation of long noncoding RNA LINC00472 alleviates sepsis-induced acute hepatic injury by regulating miR-373-3p/TRIM8 axis.
TRIM8 interacts with KIF11 and KIFC1 and controls bipolar spindle formation and chromosomal stability.
Title: TRIM8 interacts with KIF11 and KIFC1 and controls bipolar spindle formation and chromosomal stability.

Submit: New GeneRIF Correction See all GeneRIFs (28)

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

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 EBI GWAS CatalogPubMed
Identification of 23 new prostate cancer susceptibility loci using the iCOGS custom genotyping array. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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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

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SHGC-57253 (e-PCR)
- UniSTS:51757

RH93912 (e-PCR)
- UniSTS:85294

SHGC-57638 (e-PCR)
- UniSTS:51758

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

Process	Evidence Code	Pubs
involved_in canonical NF-kappaB signal transduction	IDA Inferred from Direct Assay more info	PubMed
involved_in innate immune response	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of viral entry into host cell	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of viral transcription	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of DNA-binding transcription factor activity	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of DNA-templated transcription	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of NF-kappaB transcription factor activity	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of autophagy	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of canonical NF-kappaB signal transduction	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of protein localization to nucleus	IEA Inferred from Electronic Annotation more info
involved_in protein K63-linked ubiquitination	IDA Inferred from Direct Assay more info	PubMed
involved_in stem cell population maintenance	IEA Inferred from Electronic Annotation more info
involved_in suppression of viral release by host	IDA Inferred from Direct Assay 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

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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

EC 2.3.2.27

NP_112174.2

EC 2.3.2.27

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

NG_051595.1 RefSeqGene

Range

4985..18824

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001345950.1 → NP_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:140 → 182

zf-B_box; B-box zinc finger

cl17238
Location:15 → 55

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 ...
NM_030912.3 → NP_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:140 → 182

zf-B_box; B-box zinc finger

cl17238
Location:15 → 55

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:189 → 257

iSH2_PI3K_IA_R; Inter-Src homology 2 (iSH2) helical domain of Class IA Phosphoinositide 3-kinase Regulatory subunits

RNA

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