P56180 (TPTE_HUMAN) Reviewed, UniProtKB/Swiss-Prot
Last modified
May 1, 2013.
Version 115.
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: Putative tyrosine-protein phosphatase TPTE EC=3.1.3.48 Alternative name(s): Cancer/testis antigen 44 Short name=CT44 Transmembrane phosphatase with tensin homology Tumor antigen BJ-HCC-5 | ||
| 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 | 551 AA. |
| Sequence status | Complete. |
| Protein existence | Evidence at transcript level |
General annotation (Comments)
| Function | Could be involved in signal transduction. |
| Catalytic activity | Protein tyrosine phosphate + H2O = protein tyrosine + phosphate. |
| Subcellular location | |
| Tissue specificity | Exclusively expressed in testis. Ref.1 |
| Sequence similarities | Contains 1 C2 tensin-type domain. Contains 1 phosphatase tensin-type domain. |
Ontologies
| Keywords | |
|---|---|
| Cellular component | Membrane |
| Coding sequence diversity | Alternative splicing Polymorphism |
| Domain | Transmembrane Transmembrane helix |
| Molecular function | Hydrolase Protein phosphatase |
| Technical term | Complete proteome Reference proteome |
| Gene Ontology (GO) | |
| Biological_process | signal transduction Traceable author statement Ref.1. Source: ProtInc |
| Cellular_component | integral to membrane Traceable author statement Ref.1. Source: ProtInc |
| Molecular_function | ion channel activity Inferred from electronic annotation. Source: InterPro protein tyrosine phosphatase activityTraceable author statement Ref.1. Source: ProtInc protein tyrosine/serine/threonine phosphatase activityInferred from electronic annotation. Source: InterPro |
| Complete GO annotation... | |
Alternative products
| This entry describes 4 isoforms produced by alternative splicing. [Align] [Select] | ||||||
| Isoform 1 (identifier: P56180-1) Also known as: Alpha; 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: P56180-2) Also known as: Beta; The sequence of this isoform differs from the canonical sequence as follows: 41-58: Missing. | ||||||
| Isoform 3 (identifier: P56180-3) Also known as: Gamma; The sequence of this isoform differs from the canonical sequence as follows: 41-78: Missing. | ||||||
| Isoform 4 (identifier: P56180-4) Also known as: Delta; The sequence of this isoform differs from the canonical sequence as follows: 1-138: Missing. |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||
Molecule processing | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Chain | 1 – 551 | 551 | Putative tyrosine-protein phosphatase TPTE | PRO_0000215907 | |||||
Regions | |||||||||
| Transmembrane | 91 – 111 | 21 | Helical; Potential | ||||||
| Transmembrane | 128 – 148 | 21 | Helical; Potential | ||||||
| Transmembrane | 164 – 184 | 21 | Helical; Potential | ||||||
| Domain | 228 – 404 | 177 | Phosphatase tensin-type | ||||||
| Domain | 411 – 540 | 130 | C2 tensin-type | ||||||
Sites | |||||||||
| Active site | 338 | 1 | Potential | ||||||
Natural variations | |||||||||
| Alternative sequence | 1 – 138 | 138 | Missing in isoform 4. | VSP_017319 | |||||
| Alternative sequence | 41 – 78 | 38 | Missing in isoform 3. | VSP_017320 | |||||
| Alternative sequence | 41 – 58 | 18 | Missing in isoform 2. | VSP_017321 | |||||
| Natural variant | 144 | 1 | R → Q in a breast cancer sample; somatic mutation. Ref.7 | VAR_036516 | |||||
| Natural variant | 195 | 1 | R → Q. Corresponds to variant rs1810856 [ dbSNP | Ensembl ]. | VAR_057347 | |||||
| Natural variant | 386 | 1 | K → E. Ref.1 Ref.2 Ref.3 Ref.4 Ref.6 Corresponds to variant rs212146 [ dbSNP | Ensembl ]. | VAR_065097 | |||||
| Natural variant | 470 | 1 | L → P. Ref.1 Ref.2 Ref.6 Corresponds to variant rs150482 [ dbSNP | Ensembl ]. | VAR_025400 | |||||
| Natural variant | 482 | 1 | Y → S. Corresponds to variant rs9996 [ dbSNP | Ensembl ]. | VAR_061895 | |||||
| Natural variant | 549 | 1 | G → E. Corresponds to variant rs169758 [ dbSNP | Ensembl ]. | VAR_057348 | |||||
Sequences
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References
| « Hide 'large scale' references | |
| [1] | "A testis-specific gene, TPTE, encodes a putative transmembrane tyrosine phosphatase and maps to the pericentromeric region of human chromosomes 21 and 13, and to chromosomes 15, 22, and Y." Chen H., Rossier C., Morris M.A., Scott H.S., Gos A., Bairoch A., Antonarakis S.E. Hum. Genet. 105:399-409(1999) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), TISSUE SPECIFICITY, VARIANTS GLU-386 AND PRO-470. Tissue: Testis. |
| [2] | "The TPTE gene family: cellular expression, subcellular localization and alternative splicing." Tapparel C., Reymond A., Girardet C., Guillou L., Lyle R., Lamon C., Hutter P., Antonarakis S.E. Gene 323:189-199(2003) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 2; 3 AND 4), VARIANTS GLU-386 AND PRO-470. |
| [3] | "Cloning and identification of genes which are differentially expressed in hepatocellular carcinoma." Dong X.-Y., Chen W.-F. Submitted (MAR-2002) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2), VARIANT GLU-386. Tissue: Hepatoma. |
| [4] | "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], VARIANT GLU-386. Tissue: Testis. |
| [5] | "The DNA sequence of human chromosome 21." Hattori M., Fujiyama A., Taylor T.D., Watanabe H., Yada T., Park H.-S., Toyoda A., Ishii K., Totoki Y., Choi D.-K., Groner Y., Soeda E., Ohki M., Takagi T., Sakaki Y., Taudien S., Blechschmidt K., Polley A. Yaspo M.-L.Nature 405:311-319(2000) [PubMed] [Europe PMC] [Abstract] 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] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2), VARIANTS GLU-386 AND PRO-470. Tissue: Testis. |
| [7] | "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] [Europe PMC] [Abstract] Cited for: VARIANT [LARGE SCALE ANALYSIS] GLN-144. |
| + | Additional computationally mapped references. |
Cross-references
Sequence databases | |
|---|---|
| EMBL GenBank DDBJ | AF007118 mRNA. Translation: AAC34574.1. AY219886 mRNA. Translation: AAP45143.1. AY219887 mRNA. Translation: AAP45144.1. AY219888 mRNA. Translation: AAP45145.1. AF495908 mRNA. Translation: AAQ06674.1. AK314285 mRNA. Translation: BAG36944.1. AF254982 Genomic DNA. No translation available. AF254983 Genomic DNA. No translation available. AL078471 Genomic DNA. No translation available. AL163201 Genomic DNA. Translation: CAB90528.1. BC028719 mRNA. Translation: AAH28719.1. |
| IPI | IPI00215913. IPI00413147. IPI00414275. IPI00952568. |
| RefSeq | NP_954868.1. NM_199259.2. NP_954869.1. NM_199260.2. NP_954870.2. NM_199261.2. |
| UniGene | Hs.122986. |
3D structure databases | |
| ProteinModelPortal | P56180. |
| SMR | P56180. Positions 226-539. |
| ModBase | Search... |
Protein-protein interaction databases | |
| IntAct | P56180. 1 interaction. |
| STRING | 9606.ENSP00000355208. |
PTM databases | |
| PhosphoSite | P56180. |
Polymorphism databases | |
| DMDM | 160331915. |
Proteomic databases | |
| PaxDb | P56180. |
| PRIDE | P56180. |
Protocols and materials databases | |
| DNASU | 7179. |
| StructuralBiologyKnowledgebase | Search... |
Genome annotation databases | |
| Ensembl | ENST00000298232; ENSP00000298232; ENSG00000166157. ENST00000342420; ENSP00000344441; ENSG00000166157. ENST00000361285; ENSP00000355208; ENSG00000166157. |
| GeneID | 7179. |
| KEGG | hsa:7179. |
| UCSC | uc002yip.1. human. uc002yiq.1. human. uc002yir.1. human. |
Organism-specific databases | |
| CTD | 7179. |
| GeneCards | GC21M010906. |
| HGNC | HGNC:12023. TPTE. |
| MIM | 604336. gene. |
| neXtProt | NX_P56180. |
| PharmGKB | PA36702. |
| GenAtlas | Search... |
Phylogenomic databases | |
| eggNOG | COG2453. |
| HOVERGEN | HBG084209. |
| KO | K01104. |
| OrthoDB | EOG45756J. |
| PhylomeDB | P56180. |
Gene expression databases | |
| ArrayExpress | P56180. |
| Bgee | P56180. |
| CleanEx | HS_TPTE. |
| Genevestigator | P56180. |
| GermOnline | ENSG00000166157. Homo sapiens. |
Family and domain databases | |
| InterPro | IPR008973. C2_Ca/lipid-bd_dom_CaLB. IPR000340. Dual-sp_phosphatase_cat-dom. IPR005821. Ion_trans_dom. IPR014019. Phosphatase_tensin-typ. IPR014020. Tensin_phosphatase_C2-dom. IPR016130. Tyr_Pase_AS. [Graphical view] |
| Pfam | PF00782. DSPc. 1 hit. PF00520. Ion_trans. 1 hit. PF10409. PTEN_C2. 1 hit. [Graphical view] |
| SUPFAM | SSF49562. C2_CaLB. 1 hit. |
| PROSITE | PS51182. C2_TENSIN. 1 hit. PS51181. PPASE_TENSIN. 1 hit. [Graphical view] |
| ProtoNet | Search... |
Other | |
| GenomeRNAi | 7179. |
| NextBio | 28140. |
| SOURCE | Search... |
Entry information
| Entry name | TPTE_HUMAN | ||||||||
| Accession | Primary (citable) accession number: P56180 Secondary accession number(s): B2RAP7 Q8NCS8 | ||||||||
| 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 21 Human chromosome 21: 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
