Human Gene TRIM32 (ENST00000450136.2) from GENCODE V44
Description: Homo sapiens tripartite motif containing 32 (TRIM32), transcript variant 1, mRNA. (from RefSeq NM_012210) RefSeq Summary (NM_012210): The protein encoded by this gene is a member of the tripartite motif (TRIM) family. The TRIM motif includes three zinc-binding domains, a RING, a B-box type 1 and a B-box type 2, and a coiled-coil region. The protein localizes to cytoplasmic bodies. The protein has also been localized to the nucleus, where it interacts with the activation domain of the HIV-1 Tat protein. The Tat protein activates transcription of HIV-1 genes. [provided by RefSeq, Jul 2008]. Gencode Transcript: ENST00000450136.2 Gencode Gene: ENSG00000119401.11 Transcript (Including UTRs) Position: hg38 chr9:116,687,305-116,701,299 Size: 13,995 Total Exon Count: 2 Strand: + Coding Region Position: hg38 chr9:116,697,743-116,699,704 Size: 1,962 Coding Exon Count: 1
ID:TRI32_HUMAN DESCRIPTION: RecName: Full=E3 ubiquitin-protein ligase TRIM32; EC=6.3.2.-; AltName: Full=72 kDa Tat-interacting protein; AltName: Full=Tripartite motif-containing protein 32; AltName: Full=Zinc finger protein HT2A; FUNCTION: Has an E3 ubiquitin ligase activity. Ubiquitinates DTNBP1 (dysbindin) and promotes its degradation. May play a significant role in mediating the biological activity of the HIV-1 Tat protein in vivo. Binds specifically to the activation domain of HIV-1 Tat and can also interact with the HIV-2 and EIAV Tat proteins in vivo. PATHWAY: Protein modification; protein ubiquitination. SUBUNIT: Interacts with DTNBP1. It self-associates. INTERACTION: P54253:ATXN1; NbExp=2; IntAct=EBI-742790, EBI-930964; Q99J34:Irak1 (xeno); NbExp=2; IntAct=EBI-742790, EBI-6117042; O76083:PDE9A; NbExp=3; IntAct=EBI-742790, EBI-742764; Q9C035:TRIM5; NbExp=2; IntAct=EBI-742790, EBI-924214; Q9NRR5:UBQLN4; NbExp=3; IntAct=EBI-742790, EBI-711226; SUBCELLULAR LOCATION: Cytoplasm. Note=Localized in cytoplasmic bodies, often located around the nucleus. TISSUE SPECIFICITY: Spleen, thymus, prostate, testis, ovary, intestine, colon and skeletal muscle. PTM: Ubiquitinated. DISEASE: Defects in TRIM32 are the cause of limb-girdle muscular dystrophy type 2H (LGMD2H) [MIM:254110]; also known as muscular dystrophy Hutterite type. LGMD2H is an autosomal recessive degenerative myopathy characterized by pelvic girdle, shoulder girdle and quadriceps muscle weakness. Clinical phenotype and severity are highly variable. Disease progression is slow and most patients remain ambulatory into the sixth decade of life. DISEASE: Defects in TRIM32 are the cause of Bardet-Biedl syndrome type 11 (BBS11) [MIM:209900]. Bardet-Biedl syndrome (BBS) is a genetically heterogeneous, autosomal recessive disorder characterized by usually severe pigmentary retinopathy, early onset obesity, polydactyly, hypogenitalism, renal malformation and mental retardation. Secondary features include diabetes mellitus, hypertension and congenital heart disease. A relatively high incidence of BBS is found in the mixed Arab populations of Kuwait and in Bedouin tribes throughout the Middle East, most likely due to the high rate of consaguinity in these populations and a founder effect. SIMILARITY: Belongs to the TRIM/RBCC family. SIMILARITY: Contains 1 B box-type zinc finger. SIMILARITY: Contains 5 NHL repeats. SIMILARITY: Contains 1 RING-type zinc finger. WEB RESOURCE: Name=Leiden Muscular Dystrophy pages; Note=TRIM32; URL="http://www.dmd.nl/trim32_home.html"; WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/TRIM32";
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.
ModBase Predicted Comparative 3D Structure on Q13049
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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.
KEGG - Kyoto Encyclopedia of Genes and Genomes hsa04120 - Ubiquitin mediated proteolysis
Reactome (by CSHL, EBI, and GO)
Protein Q13049 (Reactome details) participates in the following event(s):
R-HSA-1964496 STING binds TRIM32 or TRIM56 R-HSA-3134804 STING ubiquitination by TRIM32 or TRIM56 R-HSA-983157 Interaction of E3 with substrate and E2-Ub complex R-HSA-983147 Release of E3 from polyubiquitinated substrate R-HSA-983140 Transfer of Ub from E2 to substrate and release of E2 R-HSA-3134975 Regulation of innate immune responses to cytosolic DNA R-HSA-983168 Antigen processing: Ubiquitination & Proteasome degradation R-HSA-1834949 Cytosolic sensors of pathogen-associated DNA R-HSA-983169 Class I MHC mediated antigen processing & presentation R-HSA-168249 Innate Immune System R-HSA-1280218 Adaptive Immune System R-HSA-168256 Immune System
US Server
