O95248 (MTMR5_HUMAN) Reviewed, UniProtKB/Swiss-Prot
Last modified
January 25, 2012.
Version 108.
History...
Names·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order
Names·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize orderNames and origin
| Protein names | Recommended name: Myotubularin-related protein 5 Alternative name(s): SET-binding factor 1 Short name=Sbf1 | ||||
| Gene names |
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| Organism | Homo sapiens (Human) | ||||
| Taxonomic identifier | 9606 [NCBI] | ||||
| Taxonomic lineage | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Protein attributes
| Sequence length | 1867 AA. |
| Sequence status | Complete. |
| Protein existence | Evidence at protein level |
General annotation (Comments)
| Function | Probable pseudophosphatase. Lacks several amino acids in the catalytic pocket which renders it catalytically inactive as a phosphatase. The pocket is however sufficiently preserved to bind phosphorylated substrates, and maybe protect them from phosphatases. Inhibits myoblast differentiation in vitro and induces oncogenic transformation in fibroblasts. Ref.4 |
| Subunit structure | Interacts with the SET domain of MLL/HRX. Interacts with SUV39H1. Ref.4 Ref.6 |
| Subcellular location | |
| Sequence similarities | Belongs to the protein-tyrosine phosphatase family. Non-receptor class myotubularin subfamily. Contains 1 dDENN domain. Contains 1 DENN domain. Contains 1 GRAM domain. Contains 1 myotubularin phosphatase domain. Contains 1 PH domain. Contains 1 uDENN domain. |
| Sequence caution | The sequence AAC39675.1 differs from that shown. Reason: Frameshift at positions 1603, 1627, 1631 and 1864. |
Ontologies
| Keywords | |
|---|---|
| Cellular component | Nucleus |
| Coding sequence diversity | Alternative splicing |
| PTM | Phosphoprotein |
| Technical term | Complete proteome Reference proteome |
| Gene Ontology (GO) | |
| Biological process | protein dephosphorylation Traceable author statement Ref.5. Source: UniProtKB |
| Cellular component | integral to membrane Traceable author statement Ref.5. Source: UniProtKB nucleusInferred from electronic annotation. Source: UniProtKB-SubCell |
| Molecular function | protein tyrosine/serine/threonine phosphatase activity Traceable author statement Ref.5. Source: UniProtKB |
| Complete GO annotation... | |
Alternative products
| This entry describes 2 isoforms produced by alternative splicing. [Align] [Select] | ||||||
| Isoform 1 (identifier: O95248-1) This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. | ||||||
| Isoform 4 (identifier: O95248-4) The sequence of this isoform differs from the canonical sequence as follows: 1275-1275: H → HVPSPRARVTTLSNPMAASASRRTAPR | ||||||
| Note: No experimental confirmation available. |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||
Molecule processing | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Chain | 1 – 1867 | 1867 | Myotubularin-related protein 5 | PRO_0000094938 | |||||
Regions | |||||||||
| Domain | 18 – 86 | 69 | UDENN | ||||||
| Domain | 128 – 310 | 183 | DENN | ||||||
| Domain | 363 – 432 | 70 | dDENN | ||||||
| Domain | 880 – 968 | 89 | GRAM | ||||||
| Domain | 1120 – 1596 | 477 | Myotubularin phosphatase | ||||||
| Domain | 1761 – 1865 | 105 | PH | ||||||
Amino acid modifications | |||||||||
| Modified residue | 1137 | 1 | Phosphothreonine Ref.7 | ||||||
| Modified residue | 1749 | 1 | Phosphothreonine By similarity | ||||||
Natural variations | |||||||||
| Alternative sequence | 1275 | 1 | H → HVPSPRARVTTLSNPMAASA SRRTAPR in isoform 4. | VSP_015158 | |||||
Experimental info | |||||||||
| Sequence conflict | 596 | 1 | A → V in AAC39675. Ref.4 | ||||||
| Sequence conflict | 1172 | 1 | P → R in AAC39675. Ref.4 | ||||||
| Sequence conflict | 1376 | 1 | A → P in AAC78842. Ref.5 | ||||||
| Sequence conflict | 1556 | 1 | Y → H in AAC78842. Ref.5 | ||||||
Sequences
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References
| « Hide 'large scale' references | |
| [1] | "The DNA sequence of human chromosome 22." Dunham I., Hunt A.R., Collins J.E., Bruskiewich R., Beare D.M., Clamp M., Smink L.J., Ainscough R., Almeida J.P., Babbage A.K., Bagguley C., Bailey J., Barlow K.F., Bates K.N., Beasley O.P., Bird C.P., Blakey S.E., Bridgeman A.M. Wright H.Nature 402:489-495(1999) [PubMed: 10591208] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. |
| [2] | Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. Venter J.C.Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases 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] (ISOFORM 4), NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 938-1866 (ISOFORM 1). Tissue: Muscle and Ovary. |
| [4] | "Association of SET domain and myotubularin-related proteins modulates growth control." Cui X., De Vivo I., Slany R., Miyamoto A., Firestein R., Cleary M.L. Nat. Genet. 18:331-337(1998) [PubMed: 9537414] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 238-1867 (ISOFORM 1), FUNCTION, INTERACTION WITH MLL, SUBCELLULAR LOCATION. Tissue: Lymphoblast. |
| [5] | "Characterization of the myotubularin dual specificity phosphatase gene family from yeast to human." Laporte J., Blondeau F., Buj-Bello A., Tentler D., Kretz C., Dahl N., Mandel J.-L. Hum. Mol. Genet. 7:1703-1712(1998) [PubMed: 9736772] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 1362-1602. |
| [6] | "Set domain-dependent regulation of transcriptional silencing and growth control by SUV39H1, a mammalian ortholog of Drosophila Su(var)3-9." Firestein R., Cui X., Huie P., Cleary M.L. Mol. Cell. Biol. 20:4900-4909(2000) [PubMed: 10848615] [Abstract] Cited for: INTERACTION WITH SUV39H1. |
| [7] | "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 THR-1137, MASS SPECTROMETRY. Tissue: Cervix carcinoma. |
| + | Additional computationally mapped references. |
Cross-references
Sequence databases | |
|---|---|
| EMBL GenBank DDBJ | AL096767 Genomic DNA. Translation: CAO03462.1. CH471138 Genomic DNA. Translation: EAW73536.1. BC009268 mRNA. Translation: AAH09268.2. BC087612 mRNA. Translation: AAH87612.1. U93181 mRNA. Translation: AAC39675.1. Frameshift. AF072929 mRNA. Translation: AAC78842.1. |
| IPI | IPI00853090. IPI01013451. |
| RefSeq | NP_002963.2. NM_002972.2. |
| UniGene | Hs.589924. |
3D structure databases | |
| ProteinModelPortal | O95248. |
| SMR | O95248. Positions 1764-1865. |
| ModBase | Search... |
Protein-protein interaction databases | |
| IntAct | O95248. 2 interactions. |
| MINT | MINT-7034529. |
| STRING | O95248. |
PTM databases | |
| PhosphoSite | O95248. |
Proteomic databases | |
| PRIDE | O95248. |
Protocols and materials databases | |
| StructuralBiologyKnowledgebase | Search... |
Genome annotation databases | |
| Ensembl | ENST00000390679; ENSP00000375097; ENSG00000100241. |
| GeneID | 6305. |
| KEGG | hsa:6305. |
| UCSC | uc003blg.1. human. uc003blh.1. human. |
Organism-specific databases | |
| CTD | 6305. |
| GeneCards | GC22M050885. |
| HGNC | HGNC:10542. SBF1. |
| MIM | 603560. gene. |
| neXtProt | NX_O95248. |
| PharmGKB | PA34953. |
| GenAtlas | Search... |
Phylogenomic databases | |
| eggNOG | prNOG18936. |
| HOVERGEN | HBG052527. |
| PhylomeDB | O95248. |
Gene expression databases | |
| ArrayExpress | O95248. |
| Bgee | O95248. |
| CleanEx | HS_SBF1. |
| Genevestigator | O95248. |
| GermOnline | ENSG00000100241. Homo sapiens. |
Family and domain databases | |
| InterPro | IPR005112. dDENN. IPR001194. DENN. IPR004182. GRAM. IPR010569. Myotub-related. IPR017906. Myotubularin_phosphatase_dom. IPR011993. PH_type. IPR001849. Pleckstrin_homology. IPR022096. SBF2. IPR005113. uDENN. [Graphical view] |
| Gene3D | G3DSA:2.30.29.30. PH_type. 1 hit. |
| Pfam | PF03455. dDENN. 1 hit. PF02141. DENN. 1 hit. PF02893. GRAM. 1 hit. PF06602. Myotub-related. 1 hit. PF00169. PH. 1 hit. PF12335. SBF2. 1 hit. PF03456. uDENN. 1 hit. [Graphical view] |
| SMART | SM00801. dDENN. 1 hit. SM00799. DENN. 1 hit. SM00568. GRAM. 1 hit. SM00233. PH. 1 hit. SM00800. uDENN. 1 hit. [Graphical view] |
| PROSITE | PS50947. DDENN. 1 hit. PS50211. DENN. 1 hit. PS50003. PH_DOMAIN. 1 hit. PS51339. PPASE_MYOTUBULARIN. 1 hit. PS50946. UDENN. 1 hit. [Graphical view] |
| ProtoNet | Search... |
Other | |
| NextBio | 24479. |
| SOURCE | Search... |
Entry information
| Entry name | MTMR5_HUMAN | ||||||||
| Accession | Primary (citable) accession number: O95248 Secondary accession number(s): A6PVG9 Q9UGB8 | ||||||||
| Entry history |
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| Entry status | Reviewed (UniProtKB/Swiss-Prot) | ||||||||
| Annotation program | Chordata Protein Annotation Program | ||||||||
| Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. | ||||||||
Relevant documents
| Human chromosome 22 Human chromosome 22: entries, gene names and cross-references to MIM |
| MIM cross-references Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot |
| SIMILARITY comments Index of protein domains and families |

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