Q13615 (MTMR3_HUMAN) Reviewed, UniProtKB/Swiss-Prot
Last modified
January 25, 2012.
Version 112.
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 3 EC=3.1.3.48 Alternative name(s): FYVE domain-containing dual specificity protein phosphatase 1 Short name=FYVE-DSP1 Zinc finger FYVE domain-containing protein 10 | ||||
| Gene names |
| ||||
| 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 | 1198 AA. |
| Sequence status | Complete. |
| Protein existence | Evidence at protein level |
General annotation (Comments)
| Function | Phosphatase that acts on lipids with a phosphoinositol headgroup. Has phosphatase activity towards phosphatidylinositol-3-phosphate and phosphatidylinositol-3,5-bisphosphate. May also dephosphorylate proteins phosphorylated on Ser, Thr, and Tyr residues. Ref.9 |
| Catalytic activity | Protein tyrosine phosphate + H2O = protein tyrosine + phosphate. |
| Subcellular location | |
| Sequence similarities | Belongs to the protein-tyrosine phosphatase family. Non-receptor class myotubularin subfamily. Contains 1 FYVE-type zinc finger. Contains 1 myotubularin phosphatase domain. |
| Sequence caution | The sequence BAA20826.2 differs from that shown. Reason: Erroneous initiation. |
Ontologies
Alternative products
| This entry describes 3 isoforms produced by alternative splicing. [Align] [Select] | ||||||
| Isoform B (identifier: Q13615-1) Also known as: FYVE-DSP1b; 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 A (identifier: Q13615-2) Also known as: FYVE-DSP1a; The sequence of this isoform differs from the canonical sequence as follows: 1076-1112: Missing. 1142-1142: R → RDTDRVDQTW | ||||||
| Isoform C (identifier: Q13615-3) Also known as: FYVE-DSP1c; The sequence of this isoform differs from the canonical sequence as follows: 1076-1112: Missing. |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||
Molecule processing | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Chain | 1 – 1198 | 1198 | Myotubularin-related protein 3 | PRO_0000094936 | |||||
Regions | |||||||||
| Domain | 155 – 576 | 422 | Myotubularin phosphatase | ||||||
| Zinc finger | 1119 – 1179 | 61 | FYVE-type | ||||||
| Region | 326 – 329 | 4 | Substrate binding By similarity | ||||||
| Region | 351 – 352 | 2 | Substrate binding By similarity | ||||||
| Region | 413 – 419 | 7 | Substrate binding By similarity | ||||||
| Coiled coil | 1029 – 1062 | 34 | Potential | ||||||
Sites | |||||||||
| Active site | 413 | 1 | Phosphocysteine intermediate By similarity | ||||||
| Binding site | 459 | 1 | Substrate By similarity | ||||||
Amino acid modifications | |||||||||
| Modified residue | 613 | 1 | Phosphoserine By similarity | ||||||
| Modified residue | 633 | 1 | Phosphoserine Ref.11 | ||||||
| Modified residue | 647 | 1 | Phosphoserine Ref.10 Ref.11 Ref.12 | ||||||
| Modified residue | 731 | 1 | Phosphothreonine Ref.11 | ||||||
| Modified residue | 913 | 1 | Phosphoserine Ref.11 | ||||||
| Modified residue | 1181 | 1 | Phosphothreonine By similarity | ||||||
Natural variations | |||||||||
| Alternative sequence | 1076 – 1112 | 37 | Missing in isoform A and isoform C. | VSP_007781 | |||||
| Alternative sequence | 1142 | 1 | R → RDTDRVDQTW in isoform A. | VSP_007782 | |||||
| Natural variant | 221 | 1 | V → L in a breast cancer sample; somatic mutation. Ref.13 | VAR_035656 | |||||
Experimental info | |||||||||
| Mutagenesis | 413 | 1 | C → S: Loss of activity. Ref.9 | ||||||
| Sequence conflict | 560 – 578 | 19 | LYPVC…AVYLP → CILQPFHCGQQKEFGVGYI Ref.7 | ||||||
Sequences
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References
| « Hide 'large scale' references | |
| [1] | "FYVE-DSP1, a dual-specificity protein phosphatase containing an FYVE domain." Zhao R., Qi Y., Zhao Z.J. Biochem. Biophys. Res. Commun. 270:222-229(2000) [PubMed: 10733931] [Abstract] Cited for: NUCLEOTIDE SEQUENCE (ISOFORMS A; B AND C), CHARACTERIZATION. |
| [2] | "Prediction of the coding sequences of unidentified human genes. VII. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro." Nagase T., Ishikawa K., Nakajima D., Ohira M., Seki N., Miyajima N., Tanaka A., Kotani H., Nomura N., Ohara O. DNA Res. 4:141-150(1997) [PubMed: 9205841] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM B). Tissue: Brain. |
| [3] | "A genome annotation-driven approach to cloning the human ORFeome." Collins J.E., Wright C.L., Edwards C.A., Davis M.P., Grinham J.A., Cole C.G., Goward M.E., Aguado B., Mallya M., Mokrab Y., Huckle E.J., Beare D.M., Dunham I. Genome Biol. 5:R84.1-R84.11(2004) [PubMed: 15461802] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM B). |
| [4] | "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]. |
| [5] | 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]. |
| [6] | "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] (ISOFORMS B AND C). |
| [7] | "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 OF 374-578. |
| [8] | "A gene mutated in X-linked myotubular myopathy defines a new putative tyrosine phosphatase family conserved in yeast." Laporte J., Hu L.-J., Kretz C., Mandel J.-L., Kioschis P., Coy J., Klauck S.M., Poutska A., Dahl N. Nat. Genet. 13:175-182(1996) [PubMed: 8640223] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 381-463. |
| [9] | "Characterization of MTMR3. an inositol lipid 3-phosphatase with novel substrate specificity." Walker D.M., Urbe S., Dove S.K., Tenza D., Raposo G., Clague M.J. Curr. Biol. 11:1600-1605(2001) [PubMed: 11676921] [Abstract] Cited for: FUNCTION, MUTAGENESIS OF CYS-413. |
| [10] | "Combining protein-based IMAC, peptide-based IMAC, and MudPIT for efficient phosphoproteomic analysis." Cantin G.T., Yi W., Lu B., Park S.K., Xu T., Lee J.-D., Yates J.R. III J. Proteome Res. 7:1346-1351(2008) [PubMed: 18220336] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-647, MASS SPECTROMETRY. Tissue: Cervix carcinoma. |
| [11] | "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-633; SER-647; THR-731 AND SER-913, MASS SPECTROMETRY. Tissue: Cervix carcinoma. |
| [12] | "Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions." Mayya V., Lundgren D.H., Hwang S.-I., Rezaul K., Wu L., Eng J.K., Rodionov V., Han D.K. Sci. Signal. 2:RA46-RA46(2009) [PubMed: 19690332] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-647, MASS SPECTROMETRY. Tissue: Leukemic T-cell. |
| [13] | "The consensus coding sequences of human breast and colorectal cancers." Sjoeblom T., Jones S., Wood L.D., Parsons D.W., Lin J., Barber T.D., Mandelker D., Leary R.J., Ptak J., Silliman N., Szabo S., Buckhaults P., Farrell C., Meeh P., Markowitz S.D., Willis J., Dawson D., Willson J.K.V. Velculescu V.E.Science 314:268-274(2006) [PubMed: 16959974] [Abstract] Cited for: VARIANT [LARGE SCALE ANALYSIS] LEU-221. |
| + | Additional computationally mapped references. |
Cross-references
Sequence databases | |
|---|---|
| EMBL GenBank DDBJ | AF233436 mRNA. Translation: AAF40203.2. AF233437 mRNA. Translation: AAF40204.1. AF233438 mRNA. Translation: AAF40205.1. AB002369 mRNA. Translation: BAA20826.2. Different initiation. CR456525 mRNA. Translation: CAG30411.1. CH471095 Genomic DNA. Translation: EAW59852.1. CH471095 Genomic DNA. Translation: EAW59855.1. BC142713 mRNA. Translation: AAI42714.1. BC148216 mRNA. Translation: AAI48217.1. BC152455 mRNA. Translation: AAI52456.1. AC003071 Genomic DNA. Translation: AAB83949.1. U58034 Genomic DNA. Translation: AAC79119.1. |
| IPI | IPI00171273. IPI00171274. IPI00185018. |
| RefSeq | NP_066576.1. NM_021090.3. NP_694690.1. NM_153050.2. NP_694691.1. NM_153051.2. |
| UniGene | Hs.474536. |
3D structure databases | |
| ProteinModelPortal | Q13615. |
| SMR | Q13615. Positions 35-579, 1111-1181. |
| ModBase | Search... |
Protein-protein interaction databases | |
| IntAct | Q13615. 5 interactions. |
| STRING | Q13615. |
PTM databases | |
| PhosphoSite | Q13615. |
Polymorphism databases | |
| DMDM | 33112668. |
Proteomic databases | |
| PRIDE | Q13615. |
Protocols and materials databases | |
| StructuralBiologyKnowledgebase | Search... |
Genome annotation databases | |
| Ensembl | ENST00000401950; ENSP00000384651; ENSG00000100330. |
| GeneID | 8897. |
| KEGG | hsa:8897. |
| UCSC | uc003agu.2. human. uc003agv.2. human. uc003agw.2. human. |
Organism-specific databases | |
| CTD | 8897. |
| GeneCards | GC22P030279. |
| H-InvDB | HIX0016359. |
| HGNC | HGNC:7451. MTMR3. |
| HPA | HPA034515. HPA034516. |
| MIM | 603558. gene. |
| neXtProt | NX_Q13615. |
| PharmGKB | PA31254. |
| HUGE | Search... |
| GenAtlas | Search... |
Phylogenomic databases | |
| eggNOG | prNOG13553. |
| HOGENOM | HBG715843. |
| HOVERGEN | HBG052526. |
| InParanoid | Q13615. |
| OMA | RLESQYL. |
| OrthoDB | EOG4H19V0. |
| PhylomeDB | Q13615. |
Enzyme and pathway databases | |
| BioCyc | MetaCyc:ENSG00000100330-MONOMER. |
Gene expression databases | |
| ArrayExpress | Q13615. |
| Bgee | Q13615. |
| CleanEx | HS_MTMR3. |
| Genevestigator | Q13615. |
| GermOnline | ENSG00000100330. Homo sapiens. |
Family and domain databases | |
| InterPro | IPR010569. Myotub-related. IPR017906. Myotubularin_phosphatase_dom. IPR016130. Tyr_Pase_AS. IPR000306. Znf_FYVE. IPR017455. Znf_FYVE-rel. IPR011011. Znf_FYVE_PHD. IPR013083. Znf_RING/FYVE/PHD. [Graphical view] |
| Gene3D | G3DSA:3.30.40.10. Znf_RING/FYVE/PHD. 1 hit. |
| KO | K01104. |
| Pfam | PF01363. FYVE. 1 hit. PF06602. Myotub-related. 1 hit. [Graphical view] |
| SMART | SM00064. FYVE. 1 hit. [Graphical view] |
| SUPFAM | SSF57903. FYVE_PHD_ZnF. 1 hit. |
| PROSITE | PS51339. PPASE_MYOTUBULARIN. 1 hit. PS00383. TYR_PHOSPHATASE_1. 1 hit. PS50056. TYR_PHOSPHATASE_2. False negative. PS50178. ZF_FYVE. 1 hit. [Graphical view] |
| ProtoNet | Search... |
Other | |
| NextBio | 33415. |
| SOURCE | Search... |
Entry information
| Entry name | MTMR3_HUMAN | ||||||||
| Accession | Primary (citable) accession number: Q13615 Secondary accession number(s): A5PL26 Q9UEG3 | ||||||||
| 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 |
| 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 |
| SIMILARITY comments Index of protein domains and families |

Clusters with