Human Gene TRIM8 (ENST00000643721.1) Description and Page Index
  Description: Homo sapiens tripartite motif containing 8 (TRIM8), transcript variant 1, mRNA. (from RefSeq NM_030912)
RefSeq Summary (NM_030912): 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].
Gencode Transcript: ENST00000643721.1
Gencode Gene: ENSG00000171206.14
Transcript (Including UTRs)
   Position: hg38 chr10:102,642,310-102,660,680 Size: 18,371 Total Exon Count: 6 Strand: +
Coding Region
   Position: hg38 chr10:102,644,618-102,657,354 Size: 12,737 Coding Exon Count: 6 

Page IndexSequence and LinksUniProtKB CommentsMalaCardsCTDRNA-Seq Expression
Microarray ExpressionRNA StructureProtein StructureOther SpeciesGO AnnotationsmRNA Descriptions
PathwaysOther NamesMethods
Data last updated at UCSC: 2019-09-04

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr10:102,642,310-102,660,680)mRNA (may differ from genome)Protein (551 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaBioGPS
CGAPEnsemblEntrez GeneExonPrimerGeneCardsHGNC
HPRDLynxMGIneXtProtOMIMPubMed
ReactomeUniProtKB

-  Comments and Description Text from UniProtKB
  ID: TRIM8_HUMAN
DESCRIPTION: RecName: Full=Probable E3 ubiquitin-protein ligase TRIM8; EC=6.3.2.-; AltName: Full=Glioblastoma-expressed RING finger protein; AltName: Full=RING finger protein 27; AltName: Full=Tripartite motif-containing protein 8;
FUNCTION: Probable E3 ubiquitin-protein ligase which may promote proteasomal degradation of SOCS1 (By similarity).
PATHWAY: Protein modification; protein ubiquitination.
SUBUNIT: Homodimer. Interacts with SOCS1 (via) SH2 domain and SOCS box (By similarity).
INTERACTION: Self; NbExp=2; IntAct=EBI-2340370, EBI-2340370;
TISSUE SPECIFICITY: Widely expressed.
DOMAIN: The coiled coil domain is required for homodimerization.
DOMAIN: The region immediately C-terminal to the RING motif is sufficient to mediate the interaction with SOCS1 (By similarity).
SIMILARITY: Belongs to the TRIM/RBCC family.
SIMILARITY: Contains 2 B box-type zinc fingers.
SIMILARITY: Contains 1 RING-type zinc finger.

-  MalaCards Disease Associations
  MalaCards Gene Search: TRIM8
Diseases sorted by gene-association score: craniofrontonasal dysplasia (7), van der woude syndrome (5)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 66.21 RPKM in Nerve - Tibial
Total median expression: 2160.25 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -1207.502308-0.523 Picture PostScript Text
3' UTR -1287.493326-0.387 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR018957 - Znf_C3HC4_RING-type
IPR001841 - Znf_RING
IPR013083 - Znf_RING/FYVE/PHD
IPR017907 - Znf_RING_CS

Pfam Domains:
PF00097 - Zinc finger, C3HC4 type (RING finger)

ModBase Predicted Comparative 3D Structure on Q9BZR9
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
 RGDEnsembl   
 Protein Sequence    
 Alignment    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005515 protein binding
GO:0008270 zinc ion binding
GO:0016740 transferase activity
GO:0042802 identical protein binding
GO:0042803 protein homodimerization activity
GO:0046872 metal ion binding

Biological Process:
GO:0002376 immune system process
GO:0010508 positive regulation of autophagy
GO:0016567 protein ubiquitination
GO:0043123 positive regulation of I-kappaB kinase/NF-kappaB signaling
GO:0045087 innate immune response
GO:0051091 positive regulation of sequence-specific DNA binding transcription factor activity
GO:0051092 positive regulation of NF-kappaB transcription factor activity
GO:0060333 interferon-gamma-mediated signaling pathway
GO:1902187 negative regulation of viral release from host cell

Cellular Component:
GO:0005622 intracellular
GO:0005634 nucleus
GO:0005737 cytoplasm
GO:0005829 cytosol
GO:0016605 PML body


-  Descriptions from all associated GenBank mRNAs
  JD317506 - Sequence 298530 from Patent EP1572962.
JD458584 - Sequence 439608 from Patent EP1572962.
BC021925 - Homo sapiens tripartite motif-containing 8, mRNA (cDNA clone MGC:31796 IMAGE:4857393), complete cds.
AL360160 - Homo sapiens mRNA full length insert cDNA clone EUROIMAGE 159487.
AF281046 - Homo sapiens glioblastoma-expressed RING finger protein GERP (GERP) mRNA, complete cds.
DQ895209 - Synthetic construct Homo sapiens clone IMAGE:100009669; FLH182355.01L; RZPDo839F05137D tripartite motif-containing 8 (TRIM8) gene, encodes complete protein.
DQ892019 - Synthetic construct clone IMAGE:100004649; FLH182359.01X; RZPDo839F05138D tripartite motif-containing 8 (TRIM8) gene, encodes complete protein.
AF220034 - Homo sapiens tripartite motif protein TRIM8 (TRIM8) mRNA, complete cds.
JD404751 - Sequence 385775 from Patent EP1572962.
JD217571 - Sequence 198595 from Patent EP1572962.
JD268925 - Sequence 249949 from Patent EP1572962.
JD240237 - Sequence 221261 from Patent EP1572962.
JD164007 - Sequence 145031 from Patent EP1572962.
JD254177 - Sequence 235201 from Patent EP1572962.
JD133402 - Sequence 114426 from Patent EP1572962.
JD555468 - Sequence 536492 from Patent EP1572962.
JD092232 - Sequence 73256 from Patent EP1572962.
JD048167 - Sequence 29191 from Patent EP1572962.
JD352818 - Sequence 333842 from Patent EP1572962.
JD525949 - Sequence 506973 from Patent EP1572962.
JD151107 - Sequence 132131 from Patent EP1572962.
JD343951 - Sequence 324975 from Patent EP1572962.
JD554878 - Sequence 535902 from Patent EP1572962.
JD408155 - Sequence 389179 from Patent EP1572962.
JD108656 - Sequence 89680 from Patent EP1572962.
JD210403 - Sequence 191427 from Patent EP1572962.
JD166216 - Sequence 147240 from Patent EP1572962.
JD273506 - Sequence 254530 from Patent EP1572962.
JD521601 - Sequence 502625 from Patent EP1572962.
AF086326 - Homo sapiens full length insert cDNA clone ZD54A02.
JD473888 - Sequence 454912 from Patent EP1572962.
JD063988 - Sequence 45012 from Patent EP1572962.
JD438204 - Sequence 419228 from Patent EP1572962.
JD438205 - Sequence 419229 from Patent EP1572962.
JD362995 - Sequence 344019 from Patent EP1572962.
JD481043 - Sequence 462067 from Patent EP1572962.
JD348675 - Sequence 329699 from Patent EP1572962.
JD317201 - Sequence 298225 from Patent EP1572962.
JD369828 - Sequence 350852 from Patent EP1572962.
JD185254 - Sequence 166278 from Patent EP1572962.
JD127840 - Sequence 108864 from Patent EP1572962.
JD444213 - Sequence 425237 from Patent EP1572962.
JD515435 - Sequence 496459 from Patent EP1572962.
JD543191 - Sequence 524215 from Patent EP1572962.
JD291902 - Sequence 272926 from Patent EP1572962.
JD266983 - Sequence 248007 from Patent EP1572962.
JD447231 - Sequence 428255 from Patent EP1572962.
JD344739 - Sequence 325763 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein Q9BZR9 (Reactome details) participates in the following event(s):

R-HSA-877300 Interferon gamma signaling
R-HSA-913531 Interferon Signaling
R-HSA-1280215 Cytokine Signaling in Immune system
R-HSA-168256 Immune System

-  Other Names for This Gene
  Alternate Gene Symbols: A6NI31, GERP, NM_030912, Q9BZR9, Q9C028, RNF27, TRIM8_HUMAN, uc001kvz.1, uc001kvz.2, uc001kvz.3, uc001kvz.4
UCSC ID: uc001kvz.4
RefSeq Accession: NM_030912
Protein: Q9BZR9 (aka TRIM8_HUMAN or TRM8_HUMAN)
CCDS: CCDS31274.1

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.