A4FU01 (MTMRB_HUMAN) Reviewed, UniProtKB/Swiss-Prot
Last modified
May 1, 2013.
Version 51.
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 11 Alternative name(s): Cisplatin resistance-associated protein Short name=hCRA | ||
| Gene names |
| ||
| Organism | Homo sapiens (Human) [Reference 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 | 709 AA. |
| Sequence status | Complete. |
| Protein existence | Evidence at transcript level |
General annotation (Comments)
| Function | Probable pseudophosphatase. Contains a Glu residue instead of a conserved Cys residue in the dsPTPase catalytic loop which renders it catalytically inactive as a phosphatase Potential. |
| Tissue specificity | Expressed in bone marrow, spleen and thymus. Ref.6 |
| Sequence similarities | Belongs to the protein-tyrosine phosphatase family. Non-receptor class myotubularin subfamily. Contains 1 myotubularin phosphatase domain. |
| Sequence caution | The sequence AAB36952.1 differs from that shown. Reason: Frameshift at position 8. The sequence AAB36953.1 differs from that shown. Reason: Frameshift at position 8. The sequence AAH94756.1 differs from that shown. Reason: Erroneous initiation. |
Ontologies
| Keywords | |
|---|---|
| Coding sequence diversity | Alternative splicing Polymorphism |
| Technical term | Complete proteome Reference proteome |
| Gene Ontology (GO) | |
| Molecular_function | phosphatase activity Inferred from electronic annotation. Source: InterPro |
| Complete GO annotation... | |
Alternative products
| This entry describes 6 isoforms produced by alternative splicing. [Align] [Select] | ||||||
| Isoform 1 (identifier: A4FU01-1) 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 2 (identifier: A4FU01-2) Also known as: hCRA alpha; The sequence of this isoform differs from the canonical sequence as follows: 258-268: RLSWHHPGGSD → VSVMVRVMAVD 269-709: Missing. | ||||||
| Note: May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay. | ||||||
| Isoform 3 (identifier: A4FU01-3) The sequence of this isoform differs from the canonical sequence as follows: 1-28: Missing. 258-268: RLSWHHPGGSD → VSVMVRVMAVD 269-709: Missing. | ||||||
| Note: No experimental confirmation available. May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay. | ||||||
| Isoform 4 (identifier: A4FU01-4) The sequence of this isoform differs from the canonical sequence as follows: 1-72: Missing. 73-75: TNF → MPP 703-709: RAEGDLG → QSHPFWITRC | ||||||
| Isoform 5 (identifier: A4FU01-5) Also known as: hCRA beta; The sequence of this isoform differs from the canonical sequence as follows: 228-272: SLPRYFWVPN...HPGGSDLLRC → RLRCFSSSLI...VSGFLTPLPS 273-709: Missing. | ||||||
| Note: No experimental confirmation available. | ||||||
| Isoform 6 (identifier: A4FU01-6) The sequence of this isoform differs from the canonical sequence as follows: 1-28: Missing. 375-382: ERGDRDLN → GSGVSPLP 383-709: Missing. | ||||||
| Note: No experimental confirmation available. |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||
Molecule processing | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Chain | 1 – 709 | 709 | Myotubularin-related protein 11 | PRO_0000337098 | |||||
Regions | |||||||||
| Domain | 196 – 639 | 444 | Myotubularin phosphatase | ||||||
Natural variations | |||||||||
| Alternative sequence | 1 – 72 | 72 | Missing in isoform 4. | VSP_033883 | |||||
| Alternative sequence | 1 – 28 | 28 | Missing in isoform 3 and isoform 6. | VSP_033884 | |||||
| Alternative sequence | 73 – 75 | 3 | TNF → MPP in isoform 4. | VSP_033885 | |||||
| Alternative sequence | 228 – 272 | 45 | SLPRY…DLLRC → RLRCFSSSLIVSGSSSSSFQ LILNSLSFSFLLFMTVSGFL TPLPS in isoform 5. | VSP_033886 | |||||
| Alternative sequence | 258 – 268 | 11 | RLSWHHPGGSD → VSVMVRVMAVD in isoform 2 and isoform 3. | VSP_033887 | |||||
| Alternative sequence | 269 – 709 | 441 | Missing in isoform 2 and isoform 3. | VSP_033888 | |||||
| Alternative sequence | 273 – 709 | 437 | Missing in isoform 5. | VSP_033889 | |||||
| Alternative sequence | 375 – 382 | 8 | ERGDRDLN → GSGVSPLP in isoform 6. | VSP_035725 | |||||
| Alternative sequence | 383 – 709 | 327 | Missing in isoform 6. | VSP_035726 | |||||
| Alternative sequence | 703 – 709 | 7 | RAEGDLG → QSHPFWITRC in isoform 4. | VSP_033890 | |||||
| Natural variant | 159 | 1 | M → V. Ref.5 Corresponds to variant rs11205303 [ dbSNP | Ensembl ]. | VAR_043598 | |||||
| Natural variant | 531 | 1 | Q → P. Corresponds to variant rs16836857 [ dbSNP | Ensembl ]. | VAR_043599 | |||||
Experimental info | |||||||||
| Sequence conflict | 86 | 1 | W → R in BAG60917. Ref.2 | ||||||
| Sequence conflict | 165 | 1 | R → G in BAG60917. Ref.2 | ||||||
| Sequence conflict | 263 | 1 | H → R in BAG53406. Ref.2 | ||||||
Sequences
| ||||||||||||||||||||||||||||||||||||||||||||||||
References
| « Hide 'large scale' references | |
| [1] | Tanimura H., Ledakis P., Fojo T. Submitted (NOV-1996) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 2 AND 5). Tissue: Ovary tumor, Small intestine, Thalamus and Uterus. |
| [2] | "Complete sequencing and characterization of 21,243 full-length human cDNAs." Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. Sugano S.Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1; 2; 4 AND 6). |
| [3] | "The DNA sequence and biological annotation of human chromosome 1." Gregory S.G., Barlow K.F., McLay K.E., Kaul R., Swarbreck D., Dunham A., Scott C.E., Howe K.L., Woodfine K., Spencer C.C.A., Jones M.C., Gillson C., Searle S., Zhou Y., Kokocinski F., McDonald L., Evans R., Phillips K. Bentley D.R.Nature 441:315-321(2006) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. |
| [4] | 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 (SEP-2005) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. |
| [5] | "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] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 2 AND 3), NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 31-709 (ISOFORM 1), VARIANT VAL-159. Tissue: Ovary. |
| [6] | "A common 93-kb duplicated DNA sequence at 1q21.2 in acute lymphoblastic leukemia and Burkitt lymphoma." La Starza R., Crescenzi B., Pierini V., Romoli S., Gorello P., Brandimarte L., Matteucci C., Kropp M.G., Barba G., Martelli M.F., Mecucci C. Cancer Genet. Cytogenet. 175:73-76(2007) [PubMed] [Europe PMC] [Abstract] Cited for: TISSUE SPECIFICITY. |
| + | Additional computationally mapped references. |
Cross-references
Sequence databases | |
|---|---|
| EMBL GenBank DDBJ | U78556 mRNA. Translation: AAB36952.1. Frameshift. U78557 mRNA. Translation: AAB36953.1. Frameshift. AK097000 mRNA. Translation: BAG53406.1. AK296094 mRNA. Translation: BAG58848.1. AK298775 mRNA. Translation: BAG60917.1. AK304820 mRNA. Translation: BAG65568.1. AL590487 Genomic DNA. Translation: CAI12649.1. CH471121 Genomic DNA. Translation: EAW53589.1. CH471121 Genomic DNA. Translation: EAW53590.1. CH471121 Genomic DNA. Translation: EAW53594.1. BC064372 mRNA. No translation available. BC094756 mRNA. Translation: AAH94756.1. Different initiation. BC100818 mRNA. Translation: AAI00819.1. BC100819 mRNA. Translation: AAI00820.1. BC100820 mRNA. Translation: AAI00821.1. |
| IPI | IPI00009141. IPI00376863. IPI00892941. IPI00894131. IPI00894262. IPI00915025. |
| RefSeq | NP_001139334.1. NM_001145862.1. NP_870988.2. NM_181873.3. |
| UniGene | Hs.425144. |
3D structure databases | |
| ProteinModelPortal | A4FU01. |
| ModBase | Search... |
Protein-protein interaction databases | |
| MINT | MINT-1186094. |
PTM databases | |
| PhosphoSite | A4FU01. |
Proteomic databases | |
| PaxDb | A4FU01. |
| PRIDE | A4FU01. |
Protocols and materials databases | |
| DNASU | 10903. |
| StructuralBiologyKnowledgebase | Search... |
Genome annotation databases | |
| Ensembl | ENST00000361405; ENSP00000354941; ENSG00000014914. ENST00000369140; ENSP00000358136; ENSG00000014914. ENST00000406732; ENSP00000383948; ENSG00000014914. ENST00000439741; ENSP00000391668; ENSG00000014914. ENST00000580100; ENSP00000464585; ENSG00000264524. ENST00000581914; ENSP00000462570; ENSG00000264524. ENST00000582796; ENSP00000463324; ENSG00000264524. ENST00000583248; ENSP00000464592; ENSG00000264524. |
| GeneID | 10903. |
| KEGG | hsa:10903. |
| UCSC | uc001etl.4. human. uc001etm.2. human. uc010pbm.1. human. |
Organism-specific databases | |
| CTD | 10903. |
| GeneCards | GC01M149900. |
| H-InvDB | HIX0001007. |
| HGNC | HGNC:24307. MTMR11. |
| HPA | HPA030351. |
| neXtProt | NX_A4FU01. |
| PharmGKB | PA142671303. |
| GenAtlas | Search... |
Phylogenomic databases | |
| eggNOG | NOG299000. |
| HOVERGEN | HBG108155. |
| InParanoid | A4FU01. |
| OMA | GPRLSWH. |
Gene expression databases | |
| Bgee | A4FU01. |
| CleanEx | HS_MTMR11. |
| Genevestigator | A4FU01. |
Family and domain databases | |
| InterPro | IPR010569. Myotub-related. IPR022587. Myotubularin_assoc. IPR017906. Myotubularin_phosphatase_dom. [Graphical view] |
| Pfam | PF12578. 3-PAP. 1 hit. PF06602. Myotub-related. 1 hit. [Graphical view] |
| PROSITE | PS51339. PPASE_MYOTUBULARIN. 1 hit. [Graphical view] |
| ProtoNet | Search... |
Other | |
| GenomeRNAi | 10903. |
| NextBio | 41411. |
Entry information
| Entry name | MTMRB_HUMAN | ||||||||
| Accession | Primary (citable) accession number: A4FU01 Secondary accession number(s): B3KUE4 Q99753 | ||||||||
| Entry history |
| ||||||||
| 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 1 Human chromosome 1: 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 |
| SIMILARITY comments Index of protein domains and families |

Clusters with
