Human Gene TRIM32 (ENST00000450136.2_4) from GENCODE V47lift37
  Description: tripartite motif containing 32, transcript variant 1 (from RefSeq NM_012210.4)
Gencode Transcript: ENST00000450136.2_4
Gencode Gene: ENSG00000119401.11_8
Transcript (Including UTRs)
   Position: hg19 chr9:119,449,584-119,463,578 Size: 13,995 Total Exon Count: 2 Strand: +
Coding Region
   Position: hg19 chr9:119,460,022-119,461,983 Size: 1,962 Coding Exon Count: 1 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesGeneReviewsModel Information
Methods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr9:119,449,584-119,463,578)mRNA (may differ from genome)Protein (653 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
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HGNCMalacardsMGIOMIMPubMedReactome
UniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  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";

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: TRIM32
Diseases sorted by gene-association score: muscular dystrophy, limb-girdle, type 2h* (1650), bardet-biedl syndrome 11* (1288), autosomal recessive limb-girdle muscular dystrophy type 2h* (431), bardet-biedl syndrome* (262), bardet-biedl syndrome 12* (179), bardet-biedl syndrome 10* (179), myopathy* (160), bardet-biedl syndrome 1* (151), bardet-biedl syndrome 2* (107), trim32-related bardet-biedl syndrome* (100), limb-girdle muscular dystrophy (20), autosomal recessive limb-girdle muscular dystrophy type 2e (16), muscular dystrophy-dystroglycanopathy , type c, 5 (16), muscular dystrophy, limb-girdle, type 1a (15), muscular dystrophy, limb-girdle, type 2g (12), muscular dystrophy (11), autosomal recessive limb-girdle muscular dystrophy type 2f (11), autosomal recessive limb-girdle muscular dystrophy type 2b (11), autosomal recessive limb-girdle muscular dystrophy (8), muscular dystrophy, limb-girdle, type 2a (8), bardet-biedl syndrome 13 (4), hiv-1 (3)
* = Manually curated disease association

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

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 11.03 RPKM in Brain - Cerebellar Hemisphere
Total median expression: 219.33 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 -63.10158-0.399 Picture PostScript Text
3' UTR -410.801595-0.258 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
IPR011042 - 6-blade_b-propeller_TolB-like
IPR001258 - NHL_repeat
IPR013017 - NHL_repeat_subgr
IPR000315 - Znf_B-box
IPR001841 - Znf_RING
IPR013083 - Znf_RING/FYVE/PHD
IPR017907 - Znf_RING_CS

Pfam Domains:
PF00097 - Zinc finger, C3HC4 type (RING finger)
PF01436 - NHL repeat
PF13445 - RING-type zinc-finger
PF13639 - Ring finger domain
PF14634 - zinc-RING finger domain

SCOP Domains:
50952 - Soluble quinoprotein glucose dehydrogenase
50956 - Thermostable phytase (3-phytase)
50960 - TolB, C-terminal domain
63825 - YWTD domain
63829 - Calcium-dependent phosphotriesterase
69304 - Tricorn protease N-terminal domain
89372 - Fucose-specific lectin
101898 - NHL repeat
50965 - Galactose oxidase, central domain
75011 - 3-carboxy-cis,cis-mucoante lactonizing enzyme
101908 - Putative isomerase YbhE
117289 - Nucleoporin domain
50969 - YVTN repeat-like/Quinoprotein amine dehydrogenase
50974 - Nitrous oxide reductase, N-terminal domain
50978 - WD40 repeat-like
69322 - Tricorn protease domain 2
50998 - Quinoprotein alcohol dehydrogenase-like
51004 - C-terminal (heme d1) domain of cytochrome cd1-nitrite reductase
82171 - DPP6 N-terminal domain-like
57184 - Growth factor receptor domain
57845 - B-box zinc-binding domain
57850 - RING/U-box
57903 - FYVE/PHD zinc finger

Protein Data Bank (PDB) 3-D Structure
MuPIT help
2CT2 - NMR MuPIT


ModBase Predicted Comparative 3D Structure on Q13049
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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 orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
 RGD    
      
      

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0003713 transcription coactivator activity
GO:0003723 RNA binding
GO:0004842 ubiquitin-protein transferase activity
GO:0005515 protein binding
GO:0008270 zinc ion binding
GO:0016740 transferase activity
GO:0017022 myosin binding
GO:0030957 Tat protein binding
GO:0031369 translation initiation factor binding
GO:0042802 identical protein binding
GO:0043130 ubiquitin binding
GO:0043621 protein self-association
GO:0046872 metal ion binding
GO:0061630 ubiquitin protein ligase activity

Biological Process:
GO:0000209 protein polyubiquitination
GO:0001894 tissue homeostasis
GO:0006511 ubiquitin-dependent protein catabolic process
GO:0007014 actin ubiquitination
GO:0009411 response to UV
GO:0016567 protein ubiquitination
GO:0030307 positive regulation of cell growth
GO:0030335 positive regulation of cell migration
GO:0032479 regulation of type I interferon production
GO:0032897 negative regulation of viral transcription
GO:0034612 response to tumor necrosis factor
GO:0043123 positive regulation of I-kappaB kinase/NF-kappaB signaling
GO:0045087 innate immune response
GO:0045444 fat cell differentiation
GO:0045666 positive regulation of neuron differentiation
GO:0045732 positive regulation of protein catabolic process
GO:0045787 positive regulation of cell cycle
GO:0045862 positive regulation of proteolysis
GO:0046716 muscle cell cellular homeostasis
GO:0048147 negative regulation of fibroblast proliferation
GO:0050769 positive regulation of neurogenesis
GO:0051091 positive regulation of sequence-specific DNA binding transcription factor activity
GO:0051092 positive regulation of NF-kappaB transcription factor activity
GO:0051155 positive regulation of striated muscle cell differentiation
GO:0061564 axon development
GO:1902187 negative regulation of viral release from host cell
GO:1902230 negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage
GO:1903265 positive regulation of tumor necrosis factor-mediated signaling pathway
GO:1903883 positive regulation of interleukin-17-mediated signaling pathway
GO:1903886 positive regulation of chemokine (C-C motif) ligand 20 production
GO:2000147 positive regulation of cell motility

Cellular Component:
GO:0005622 intracellular
GO:0005634 nucleus
GO:0005737 cytoplasm
GO:0005829 cytosol
GO:0005863 striated muscle myosin thick filament


-  Descriptions from all associated GenBank mRNAs
  LF206491 - JP 2014500723-A/13994: Polycomb-Associated Non-Coding RNAs.
AK314264 - Homo sapiens cDNA, FLJ95013.
AX775779 - Sequence 49 from Patent WO03048202.
BC003154 - Homo sapiens tripartite motif-containing 32, mRNA (cDNA clone MGC:4116 IMAGE:2906024), complete cds.
LF213717 - JP 2014500723-A/21220: Polycomb-Associated Non-Coding RNAs.
U18543 - Human zinc-finger protein mRNA, complete cds.
LF355130 - JP 2014500723-A/162633: Polycomb-Associated Non-Coding RNAs.
JD429868 - Sequence 410892 from Patent EP1572962.
JD468520 - Sequence 449544 from Patent EP1572962.
CU678408 - Synthetic construct Homo sapiens gateway clone IMAGE:100020372 5' read TRIM32 mRNA.
AB464739 - Synthetic construct DNA, clone: pF1KB9885, Homo sapiens TRIM32 gene for tripartite motif-containing protein 32, without stop codon, in Flexi system.
DQ896342 - Synthetic construct Homo sapiens clone IMAGE:100010802; FLH193466.01L; RZPDo839G0768D tripartite motif-containing 32 (TRIM32) gene, encodes complete protein.
KJ893314 - Synthetic construct Homo sapiens clone ccsbBroadEn_02708 TRIM32 gene, encodes complete protein.
KR709894 - Synthetic construct Homo sapiens clone CCSBHm_00007115 TRIM32 (TRIM32) mRNA, encodes complete protein.
KR709895 - Synthetic construct Homo sapiens clone CCSBHm_00007116 TRIM32 (TRIM32) mRNA, encodes complete protein.
KR709896 - Synthetic construct Homo sapiens clone CCSBHm_00007117 TRIM32 (TRIM32) mRNA, encodes complete protein.
DQ893081 - Synthetic construct clone IMAGE:100005711; FLH193470.01X; RZPDo839G0778D tripartite motif-containing 32 (TRIM32) gene, encodes complete protein.
LF355131 - JP 2014500723-A/162634: Polycomb-Associated Non-Coding RNAs.
LF355132 - JP 2014500723-A/162635: Polycomb-Associated Non-Coding RNAs.
LF355133 - JP 2014500723-A/162636: Polycomb-Associated Non-Coding RNAs.
LF355134 - JP 2014500723-A/162637: Polycomb-Associated Non-Coding RNAs.
JD049639 - Sequence 30663 from Patent EP1572962.
JD240095 - Sequence 221119 from Patent EP1572962.
JD279718 - Sequence 260742 from Patent EP1572962.
JD265517 - Sequence 246541 from Patent EP1572962.
JD042697 - Sequence 23721 from Patent EP1572962.
JD369797 - Sequence 350821 from Patent EP1572962.
JD083904 - Sequence 64928 from Patent EP1572962.
JD058892 - Sequence 39916 from Patent EP1572962.
JD049315 - Sequence 30339 from Patent EP1572962.
JD110480 - Sequence 91504 from Patent EP1572962.
JD301876 - Sequence 282900 from Patent EP1572962.
JD262716 - Sequence 243740 from Patent EP1572962.
JD188175 - Sequence 169199 from Patent EP1572962.
MA442068 - JP 2018138019-A/13994: Polycomb-Associated Non-Coding RNAs.
MA449294 - JP 2018138019-A/21220: Polycomb-Associated Non-Coding RNAs.
MA590707 - JP 2018138019-A/162633: Polycomb-Associated Non-Coding RNAs.
MA590708 - JP 2018138019-A/162634: Polycomb-Associated Non-Coding RNAs.
MA590709 - JP 2018138019-A/162635: Polycomb-Associated Non-Coding RNAs.
MA590710 - JP 2018138019-A/162636: Polycomb-Associated Non-Coding RNAs.
MA590711 - JP 2018138019-A/162637: Polycomb-Associated Non-Coding RNAs.

-  Biochemical and Signaling Pathways
  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

-  Other Names for This Gene
  Alternate Gene Symbols: ENST00000450136.1, HT2A, NM_012210, Q13049, Q9NQP8, TRI32_HUMAN, uc320rpd.1, uc320rpd.2
UCSC ID: ENST00000450136.2_4
RefSeq Accession: NM_012210.4
Protein: Q13049 (aka TRI32_HUMAN or HT2A_HUMAN)

-  GeneReviews for This Gene
  GeneReviews article(s) related to gene TRIM32:
bbs (Bardet-Biedl Syndrome Overview)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

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