Reviewed,
UniProtKB/Swiss-Prot Q13049 (TRI32_HUMAN)
Last modified
July 7, 2009.
Version 101.
History...
Clusters with 100%,
90%,
50% identity |
Documents (6) |
Third-party data |
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Names and origin
| Protein names | Recommended name: Tripartite motif-containing protein 32 EC=6.3.2.- Alternative name(s): Zinc finger protein HT2A 72 kDa Tat-interacting protein | ||||
| Gene names |
| ||||
| Organism | Homo sapiens (Human) [Complete proteome] | ||||
| Taxonomic identifier | 9606 [NCBI] | ||||
| Taxonomic lineage | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Protein attributes
| Sequence length | 653 AA. |
| Sequence status | Complete. |
| Sequence processing | The displayed sequence is further processed into a mature form. |
| Protein existence | Evidence at protein level. |
General annotation (Comments)
| Function | May have an E3 ubiquitin ligase activity. 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. |
| Subcellular location | |
| Tissue specificity | Spleen, thymus, prostate, testis, ovary, intestine, colon and skeletal muscle. Ref.7 |
| Involvement in 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. Ref.7 Ref.9 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. Ref.9 Ref.8 |
| Sequence similarities | Belongs to the TRIM/RBCC family. Contains 1 B box-type zinc finger. Contains 5 NHL repeats. Contains 1 RING-type zinc finger. |
Ontologies
| Keywords | |
|---|---|
| Biological process | Ubl conjugation pathway |
| Cellular component | Nucleus |
| Disease | Bardet-Biedl syndrome Disease mutation Limb-girdle muscular dystrophy |
| Domain | Coiled coil Repeat Zinc-finger |
| Ligand | Metal-binding Zinc |
| Molecular function | Ligase |
| PTM | Acetylation Phosphoprotein |
| Technical term | 3D-structure Complete proteome Direct protein sequencing |
| Gene Ontology (GO) | |
| Biological process | modification-dependent protein catabolic process Inferred from electronic annotation. Source: UniProtKB-KW |
| Cellular component | nucleus Ref.1 Traceable author statement. Source: ProtInc |
| Molecular function | ligase activity Inferred from electronic annotation. Source: UniProtKB-KW transcription coactivator activity Ref.1Traceable author statement. Source: ProtInc zinc ion bindingInferred from electronic annotation. Source: UniProtKB-KW |
| Complete GO annotation... | |
Binary interactions
With | Entry | #Exp. | IntAct | Notes |
|---|---|---|---|---|
| ATXN1 | P54253 | 1 | EBI-742790,EBI-930964 | |
| UBQLN4 | Q9NRR5 | 1 | EBI-742790,EBI-711226 |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||||||||||||||||||
Molecule processing | |||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Initiator methionine | 1 | 1 | Removed Ref.4 | ||||||||||||||||||||||
| Chain | 2 – 653 | 652 | Tripartite motif-containing protein 32 | PRO_0000056246 | |||||||||||||||||||||
Regions | |||||||||||||||||||||||||
| Repeat | 358 – 401 | 44 | NHL 1 | ||||||||||||||||||||||
| Repeat | 415 – 458 | 44 | NHL 2 | ||||||||||||||||||||||
| Repeat | 459 – 499 | 41 | NHL 3 | ||||||||||||||||||||||
| Repeat | 562 – 605 | 44 | NHL 4 | ||||||||||||||||||||||
| Repeat | 606 – 646 | 41 | NHL 5 | ||||||||||||||||||||||
| Zinc finger | 20 – 65 | 46 | RING-type | ||||||||||||||||||||||
| Zinc finger | 103 – 133 | 31 | B box-type | ||||||||||||||||||||||
| Coiled coil | 138 – 197 | 60 | Potential | ||||||||||||||||||||||
| Compositional bias | 2 – 6 | 5 | Poly-Ala | ||||||||||||||||||||||
Amino acid modifications | |||||||||||||||||||||||||
| Modified residue | 2 | 1 | N-acetylalanine Ref.4 | ||||||||||||||||||||||
| Modified residue | 328 | 1 | Phosphoserine Ref.5 | ||||||||||||||||||||||
| Modified residue | 335 | 1 | Phosphoserine Ref.5 | ||||||||||||||||||||||
| Modified residue | 339 | 1 | Phosphoserine Ref.5 | ||||||||||||||||||||||
Natural variations | |||||||||||||||||||||||||
| Natural variant | 130 | 1 | P → S in BBS11; this mutation maintains the self-interaction. Ref.9 Ref.8 | VAR_038807 | |||||||||||||||||||||
| Natural variant | 257 | 1 | T → R: dbSNP rs3747834. | VAR_038808 | |||||||||||||||||||||
| Natural variant | 394 | 1 | R → H in LGMD2H; this mutation abolishes self-binding; interaction with UBE2N is similarly impaired. Ref.9 | VAR_042939 | |||||||||||||||||||||
| Natural variant | 408 | 1 | R → C: dbSNP rs3747835. | VAR_038809 | |||||||||||||||||||||
| Natural variant | 487 | 1 | D → N in LGMD2H; this mutation abolishes self-binding; interaction with UBE2N is similarly impaired. Ref.7 Ref.9 | VAR_018725 | |||||||||||||||||||||
| Natural variant | 588 | 1 | Missing in LGMD2H. Ref.9 | VAR_042940 | |||||||||||||||||||||
Experimental info | |||||||||||||||||||||||||
| Sequence conflict | 27 | 1 | F → I in AAA86474. Ref.1 | ||||||||||||||||||||||
Secondary structure | |||||||||||||||||||||||||
Helix Strand Turn | |||||||||||||||||||||||||
| Turn | 21 – 23 | 3 | |||||||||||||||||||||||
| Beta strand | 34 – 36 | 3 | |||||||||||||||||||||||
| Beta strand | 38 – 40 | 3 | |||||||||||||||||||||||
| Beta strand | 42 – 44 | 3 | |||||||||||||||||||||||
| Helix | 45 – 54 | 10 | |||||||||||||||||||||||
| Turn | 62 – 64 | 3 | |||||||||||||||||||||||
| Turn | 73 – 75 | 3 | |||||||||||||||||||||||
| Beta strand | 76 – 78 | 3 | |||||||||||||||||||||||
| Turn | 80 – 83 | 4 | |||||||||||||||||||||||
Sequences
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References
| « Hide 'large scale' references | |
| [1] | "Identification of a novel human zinc finger protein that specifically interacts with the activation domain of lentiviral Tat proteins." Fridell R.A., Harding L.S., Bogerd H.P., Cullen B.R. Virology 209:347-357(1995) [PubMed: 7778269] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA]. |
| [2] | "DNA sequence and analysis of human chromosome 9." Humphray S.J., Oliver K., Hunt A.R., Plumb R.W., Loveland J.E., Howe K.L., Andrews T.D., Searle S., Hunt S.E., Scott C.E., Jones M.C., Ainscough R., Almeida J.P., Ambrose K.D., Ashwell R.I.S., Babbage A.K., Babbage S., Bagguley C.L. Dunham I.Nature 429:369-374(2004) [PubMed: 15164053] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. |
| [3] | "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed: 15489334] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]. Tissue: Skin. |
| [4] | Bienvenut W.V., Waridel P., Quadroni M. Submitted (MAR-2009) to UniProtKB Cited for: PROTEIN SEQUENCE OF 2-15; 51-60; 70-101; 205-238; 248-282; 345-359; 467-500; 587-596 AND 605-613, CLEAVAGE OF INITIATOR METHIONINE, ACETYLATION AT ALA-2, MASS SPECTROMETRY. Tissue: Embryonic kidney. |
| [5] | "A quantitative atlas of mitotic phosphorylation." Dephoure N., Zhou C., Villen J., Beausoleil S.A., Bakalarski C.E., Elledge S.J., Gygi S.P. Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008) [PubMed: 18669648] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-328; SER-335 AND SER-339, MASS SPECTROMETRY. |
| [6] | "Solution structure of the RING domain of the tripartite motif protein 32." RIKEN structural genomics initiative (RSGI) Submitted (NOV-2005) to the PDB data bank Cited for: STRUCTURE BY NMR OF 10-84. |
| [7] | "Limb-girdle muscular dystrophy type 2H associated with mutation in TRIM32, a putative E3-ubiquitin-ligase gene." Frosk P., Weiler T., Nylen E., Sudha T., Greenberg C.R., Morgan K., Fujiwara T.M., Wrogemann K. Am. J. Hum. Genet. 70:663-672(2002) [PubMed: 11822024] [Abstract] Cited for: VARIANT LGMD2H ASN-487, TISSUE SPECIFICITY. |
| [8] | "Homozygosity mapping with SNP arrays identifies TRIM32, an E3 ubiquitin ligase, as a Bardet-Biedl syndrome gene (BBS11)." Chiang A.P., Beck J.S., Yen H.-J., Tayeh M.K., Scheetz T.E., Swiderski R.E., Nishimura D.Y., Braun T.A., Kim K.-Y.A., Huang J., Elbedour K., Carmi R., Slusarski D.C., Casavant T.L., Stone E.M., Sheffield V.C. Proc. Natl. Acad. Sci. U.S.A. 103:6287-6292(2006) [PubMed: 16606853] [Abstract] Cited for: VARIANT BBS11 SER-130. |
| [9] | "Mutations that impair interaction properties of TRIM32 associated with limb-girdle muscular dystrophy 2H." Saccone V., Palmieri M., Passamano L., Piluso G., Meroni G., Politano L., Nigro V. Hum. Mutat. 29:240-247(2008) [PubMed: 17994549] [Abstract] Cited for: VARIANTS LGMD2H HIS-394 AND ASP-588 DEL, CHARACTERIZATION OF VARIANTS LGMD2H HIS-394; ASN-487 AND ASP-588 DEL, CHARACTERIZATION OF VARIANT BBS11 SER-130. |
| + | Additional computationally mapped references. |
Cross-references
Sequence databases | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| U18543 mRNA. Translation: AAA86474.1. AL133284 Genomic DNA. Translation: CAB92723.1. BC003154 mRNA. Translation: AAH03154.1. | |||||||||||||
| IPI | IPI00297113. | ||||||||||||
| RefSeq | NP_001093149.1. NP_036342.2. | ||||||||||||
| UniGene | Hs.591910 | ||||||||||||
3D structure databases | |||||||||||||
| |||||||||||||
| SMR | Q13049. Positions 3-90. | ||||||||||||
| ModBase | Search... | ||||||||||||
Protein-protein interaction databases | |||||||||||||
| IntAct | Q13049. 4 interactions. | ||||||||||||
PTM databases | |||||||||||||
| PhosphoSite | Q13049. | ||||||||||||
Proteomic databases | |||||||||||||
| PRIDE | Q13049. | ||||||||||||
Genome annotation databases | |||||||||||||
| Ensembl | ENSG00000119401. Homo sapiens. [Contig view] | ||||||||||||
| GeneID | 22954. | ||||||||||||
| KEGG | hsa:22954. | ||||||||||||
| UCSC | uc004bjw.2. human. | ||||||||||||
Organism-specific databases | |||||||||||||
| GeneCards | GC09P118489. | ||||||||||||
| H-InvDB | HIX0008331. | ||||||||||||
| HGNC | HGNC:16380. TRIM32. | ||||||||||||
| MIM | 209900. phenotype. 254110. phenotype. 602290. gene. | ||||||||||||
| Orphanet | 1878. Autosomal recessive limb-girdle muscular dystrophy, type 2H. 110. Bardet-Biedl syndrome. | ||||||||||||
| PharmGKB | PA38130. | ||||||||||||
| GenAtlas | Search... | ||||||||||||
Phylogenomic databases | |||||||||||||
| HOGENOM | Q13049. | ||||||||||||
| HOVERGEN | Q13049. | ||||||||||||
| OMA | Q13049. ENEDFRC. | ||||||||||||
Gene expression databases | |||||||||||||
| ArrayExpress | Q13049. | ||||||||||||
| Bgee | Q13049. | ||||||||||||
| CleanEx | HS_TRIM32. | ||||||||||||
| GermOnline | ENSG00000119401. Homo sapiens. | ||||||||||||
Family and domain databases | |||||||||||||
| InterPro | IPR011042. 6-blade_b-propeller_TolB-like. IPR001258. NHL_repeat. IPR013017. NHL_repeat_subgr. IPR000315. Znf_B-box. IPR018957. Znf_C3HC4_RING-type. IPR001841. Znf_RING. IPR017907. Znf_RING_CS. [Graphical view] | ||||||||||||
| Gene3D | G3DSA:2.120.10.30. 6-blade_b-propeller_TolB-like. 1 hit. | ||||||||||||
| Pfam | PF01436. NHL. 5 hits. PF00097. zf-C3HC4. 1 hit. [Graphical view] | ||||||||||||
| SMART | SM00336. BBOX. 1 hit. SM00184. RING. 1 hit. [Graphical view] | ||||||||||||
| PROSITE | PS51125. NHL. 5 hits. PS50119. ZF_BBOX. 1 hit. PS00518. ZF_RING_1. 1 hit. PS50089. ZF_RING_2. 1 hit. [Graphical view] | ||||||||||||
| ProtoNet | Search... | ||||||||||||
Other Resources | |||||||||||||
| NextBio | 43741. | ||||||||||||
| SOURCE | Search... | ||||||||||||
Entry information
| Entry name | TRI32_HUMAN | ||||||||
| Accession | Primary (citable) accession number: Q13049 Secondary accession number(s): Q9NQP8 | ||||||||
| Entry history |
| ||||||||
| Entry status | Reviewed (UniProtKB/Swiss-Prot) | ||||||||
| Annotation project | HPI (Human Proteome Initiative) | ||||||||
Relevant documents
| Human chromosome 9 Human chromosome 9: entries, gene names and cross-references to MIM |
| Human entries with polymorphisms or disease mutations List of human entries with polymorphisms or disease mutations |
| Human polymorphisms and disease mutations Index of human polymorphisms and disease mutations |
| MIM cross-references Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot |
| PDB cross-references Index of Protein Data Bank (PDB) cross-references |
| SIMILARITY comments Index of protein domains and families |

Clusters with


