PTPRD

PTPRD
Available structures
PDBHuman UniProt search: PDBe RCSB
Identifiers
Aliases PTPRD, HPTP, HPTPD, HPTPDELTA, PTPD, RPTPDELTA, protein tyrosine phosphatase, receptor type D
External IDs HomoloGene: 88669 GeneCards: PTPRD
Genetically Related Diseases
epilepsy, obesity, myopia, restless legs syndrome, type 2 diabetes mellitus, focal epilepsy[1]
RNA expression pattern




More reference expression data
Orthologs
Species Human Mouse
Entrez

5789

n/a

Ensembl

ENSG00000153707

n/a

UniProt

P23468
Q3KPI9

n/a

RefSeq (mRNA)

n/a

RefSeq (protein)

NP_001164496.1
NP_002830.1
NP_569075.2
NP_569076.2
NP_569077.2

n/a

Location (UCSC) Chr 9: 8.31 – 10.61 Mb n/a
PubMed search [2] n/a
Wikidata
View/Edit Human

Receptor-type tyrosine-protein phosphatase delta is an enzyme that in humans is encoded by the PTPRD gene.[3][4][5]

Function

The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This PTP contains an extracellular region, a single transmembrane segment and two tandem intracytoplasmic catalytic domains, thus represents a receptor-type PTP. The extracellular region of this protein is composed of three Ig-like and eight fibronectin type III-like domains. Studies of the similar genes in chick and fly suggest the role of this PTP is in promoting neurite growth, and regulating neurons axon guidance. Multiple tissue specific alternatively spliced transcript variants of this gene have been reported.[5]

Clinical significance

Mutations in the PTPRD gene are associated with autism,[6] obsessive–compulsive disorder,[7] and breast cancer.[8]

Interactions

PTPRD has been shown to interact with PTPRS[9] and liprin-alpha-1.[10]

References

  1. ↑ "Diseases that are genetically associated with PTPRD view/edit references on wikidata".
  2. ↑ "Human PubMed Reference:".
  3. ↑ Pulido R, Krueger NX, Serra-Pagès C, Saito H, Streuli M (Apr 1995). "Molecular characterization of the human transmembrane protein-tyrosine phosphatase delta. Evidence for tissue-specific expression of alternative human transmembrane protein-tyrosine phosphatase delta isoforms". J Biol Chem. 270 (12): 6722–8. doi:10.1074/jbc.270.12.6722. PMID 7896816.
  4. ↑ Mizuno K, Hasegawa K, Katagiri T, Ogimoto M, Ichikawa T, Yakura H (Sep 1993). "MPTP delta, a putative murine homolog of HPTP delta, is expressed in specialized regions of the brain and in the B-cell lineage". Mol Cell Biol. 13 (9): 5513–23. PMC 360267Freely accessible. PMID 8355697.
  5. 1 2 "Entrez Gene: PTPRD protein tyrosine phosphatase, receptor type, D".
  6. ↑ Lei N, et al. (2010). "Autism Is Associated with Inherited Deletions in PTPRD and NCAM2". PAS 2010; Abstract 2320.1. Pediatric Academic Societies.
  7. ↑ "OCD: New Genetic Marker Reported". Retrieved 2015-08-16.
  8. ↑ "Comprehensive molecular portraits of human breast tumours". Nature. Nature Publishing Group. 490 (7418): 61–70. 2012. doi:10.1038/nature11412. PMC 3465532Freely accessible. PMID 23000897.
  9. ↑ Wallace MJ, Fladd C, Batt J, Rotin D (May 1998). "The second catalytic domain of protein tyrosine phosphatase delta (PTP delta) binds to and inhibits the first catalytic domain of PTP sigma". Mol. Cell. Biol. 18 (5): 2608–16. PMC 110640Freely accessible. PMID 9566880.
  10. ↑ Pulido R, Serra-Pagès C, Tang M, Streuli M (Dec 1995). "The LAR/PTP delta/PTP sigma subfamily of transmembrane protein-tyrosine-phosphatases: multiple human LAR, PTP delta, and PTP sigma isoforms are expressed in a tissue-specific manner and associate with the LAR-interacting protein LIP.1". Proc. Natl. Acad. Sci. U.S.A. 92 (25): 11686–90. doi:10.1073/pnas.92.25.11686. PMC 40467Freely accessible. PMID 8524829.

Further reading


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