TRIM8
E3 ubiquitin-protein ligase TRIM8
Also known as: GERP, RNF27, TRIM8_HUMAN
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q9BZR9
- Gene
- TRIM8
- Ensembl
- ENSG00000171206
- Chromosome
- 10
- Canonical length
- 551 aa
- Protein class
- Disease related genes, Enzymes, Human disease related genes, Potential drug targets, Predicted intracellular proteins
- Subcellular location
- Nucleoplasm,Vesicles,Cytosol
- Quaternary structure
- Homodimer
OverviewNCBI Gene
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]
Canonical amino-acid sequenceUniProt
551 residues, UniProt reviewed canonical sequence.
>Q9BZR9|TRIM8
1 MAENWKNCFE EELICPICLH VFVEPVQLPC KHNFCRGCIG EAWAKDSGLV RCPECNQAYN
61 QKPGLEKNLK LTNIVEKFNA LHVEKPPAAL HCVFCRRGPP LPAQKVCLRC EAPCCQSHVQ
121 THLQQPSTAR GHLLVEADDV RAWSCPQHNA YRLYHCEAEQ VAVCQYCCYY SGAHQGHSVC
181 DVEIRRNEIR KMLMKQQDRL EEREQDIEDQ LYKLESDKRL VEEKVNQLKE EVRLQYEKLH
241 QLLDEDLRQT VEVLDKAQAK FCSENAAQAL HLGERMQEAK KLLGSLQLLF DKTEDVSFMK
301 NTKSVKILMD RTQTCTSSSL SPTKIGHLNS KLFLNEVAKK EKQLRKMLEG PFSTPVPFLQ
361 SVPLYPCGVS SSGAEKRKHS TAFPEASFLE TSSGPVGGQY GAAGTASGEG QSGQPLGPCS
421 STQHLVALPG GAQPVHSSPV FPPSQYPNGS AAQQPMLPQY GGRKILVCSV DNCYCSSVAN
481 HGGHQPYPRS GHFPWTVPSQ EYSHPLPPTP SVPQSLPSLA VRDWLDASQQ PGHQDFYRVY
541 GQPSTKHYVT SLocalizationUniProt · AlphaFold · HPA
Whether an antibody against TRIM8 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Intracellular
- Secreted
- No
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.52
- Highest tissue expression
- 73 nTPM
Expression across tissuesHPA
Tissue
- pancreas: 73 nTPM
- kidney: 72 nTPM
- skeletal muscle: 72 nTPM
- adipose tissue: 70 nTPM
- blood vessel: 69 nTPM
- basal ganglia: 66 nTPM
Single-cell type
- salivary ionocytes: 98 nCPM
- salivary duct cells: 79 nCPM
- neutrophils: 78 nCPM
- epididymal clear cells: 78 nCPM
- fallopian tube ciliated cells: 73 nCPM
- conjunctival goblet cells: 70 nCPM
Immune cell
- neutrophil: 18 nTPM
- basophil: 14 nTPM
- plasmacytoid DC: 13 nTPM
- memory B-cell: 9 nTPM
- T-reg: 7.5 nTPM
- naive B-cell: 7.4 nTPM
Brain region
- thalamus: 177 nTPM
- midbrain: 152 nTPM
- medulla oblongata: 145 nTPM
- basal ganglia: 137 nTPM
- amygdala: 137 nTPM
- pons: 133 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about TRIM8.
Disease | AllUniProt
Conditions TRIM8 is implicated in, by any mechanism.
- Focal segmental glomerulosclerosis and neurodevelopmental syndrome (FSGSNEDS) MIM:619428
Disease | GeneticClinVar
24 pathogenic / likely-pathogenic of 463 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Focal segmental glomerulosclerosis and neurodevelopmental syndrome
- Seizure
- Focal segmental glomerulosclerosis
- Neurodevelopmental delay
- TRIM8-related epileptic encephalopathy
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 0.26
- gnomAD pLI
- 0.99
- gnomAD missense Z
- 2.74
- DepMap mean gene effect
- -0.1
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 3% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- canonical NF-kappaB signal transduction
- host-mediated suppression of symbiont invasion
- innate immune response
- negative regulation of viral transcription
- positive regulation of autophagy
- positive regulation of canonical NF-kappaB signal transduction
- positive regulation of protein localization to nucleus
- protein K63-linked ubiquitination
- stem cell population maintenance
- suppression of viral release by host
Molecular functions
- identical protein binding
- protein homodimerization activity
- transcription coactivator activity
- ubiquitin protein ligase activity
- zinc ion binding
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of TRIM8 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads TRIM8 as an antibody target. Whether an autoantibody or antibody against TRIM8 could matter depends on whether native TRIM8 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
TRIM8 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.
Annotation status
The present source text does not explicitly label TRIM8 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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