Human Gene PTPRC (ENST00000348564.11) from GENCODE V39
  Description: Homo sapiens protein tyrosine phosphatase receptor type C (PTPRC), transcript variant 2, mRNA. (from RefSeq NM_080921)
RefSeq Summary (NM_080921): 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, mitosis, and oncogenic transformation. This PTP contains an extracellular domain, a single transmembrane segment and two tandem intracytoplasmic catalytic domains, and thus is classified as a receptor type PTP. This PTP has been shown to be an essential regulator of T- and B-cell antigen receptor signaling. It functions through either direct interaction with components of the antigen receptor complexes, or by activating various Src family kinases required for the antigen receptor signaling. This PTP also suppresses JAK kinases, and thus functions as a regulator of cytokine receptor signaling. Alternatively spliced transcripts variants of this gene, which encode distinct isoforms, have been reported. [provided by RefSeq, Jun 2012].
Gencode Transcript: ENST00000348564.11
Gencode Gene: ENSG00000081237.20
Transcript (Including UTRs)
   Position: hg38 chr1:198,638,968-198,757,283 Size: 118,316 Total Exon Count: 30 Strand: +
Coding Region
   Position: hg38 chr1:198,639,269-198,756,181 Size: 116,913 Coding Exon Count: 29 

Page IndexSequence and LinksUniProtKB CommentsMalaCardsCTDRNA-Seq Expression
Microarray ExpressionRNA StructureProtein StructureOther SpeciesGO AnnotationsmRNA Descriptions
PathwaysOther NamesMethods
Data last updated at UCSC: 2022-01-17 17:30:34

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr1:198,638,968-198,757,283)mRNA (may differ from genome)Protein (1145 aa)
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HGNCLynxMGIneXtProtOMIMPubMed
ReactomeUniProtKBWikipedia

-  Comments and Description Text from UniProtKB
  ID: PTPRC_HUMAN
DESCRIPTION: RecName: Full=Receptor-type tyrosine-protein phosphatase C; EC=3.1.3.48; AltName: Full=Leukocyte common antigen; Short=L-CA; AltName: Full=T200; AltName: CD_antigen=CD45; Flags: Precursor;
FUNCTION: Protein tyrosine-protein phosphatase required for T-cell activation through the antigen receptor. Acts as a positive regulator of T-cell coactivation upon binding to DPP4. The first PTPase domain has enzymatic activity, while the second one seems to affect the substrate specificity of the first one. Upon T-cell activation, recruits and dephosphorylates SKAP1 and FYN. Dephosphorylates LYN, and thereby modulates LYN activity (By similarity).
CATALYTIC ACTIVITY: Protein tyrosine phosphate + H(2)O = protein tyrosine + phosphate.
SUBUNIT: Binds GANAB and PRKCSH (By similarity). Interacts with SKAP1. Interacts with DPP4; the interaction is enhanced in a interleukin-12-dependent manner in activated lymphocytes.
INTERACTION: P04626:ERBB2; NbExp=2; IntAct=EBI-1341, EBI-641062; P06239:LCK; NbExp=2; IntAct=EBI-1341, EBI-1348; P06240:Lck (xeno); NbExp=2; IntAct=EBI-1341, EBI-1401; Q02763:TEK; NbExp=3; IntAct=EBI-1341, EBI-2257090;
SUBCELLULAR LOCATION: Membrane; Single-pass type I membrane protein. Membrane raft. Note=Colocalized with DPP4 in membrane rafts.
DOMAIN: The first PTPase domain interacts with SKAP1.
PTM: Heavily N- and O-glycosylated.
DISEASE: Defects in PTPRC are a cause of severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell- positive/NK-cell-positive (T(-)B(+)NK(+) SCID) [MIM:608971]. A form of severe combined immunodeficiency (SCID), a genetically and clinically heterogeneous group of rare congenital disorders characterized by impairment of both humoral and cell-mediated immunity, leukopenia, and low or absent antibody levels. Patients present in infancy recurrent, persistent infections by opportunistic organisms. The common characteristic of all types of SCID is absence of T-cell-mediated cellular immunity due to a defect in T-cell development.
DISEASE: Genetic variations in PTPRC are involved in multiple sclerosis susceptibility (MS) [MIM:126200]. MS is a neurodegenerative disorder characterized by the gradual accumulation of focal plaques of demyelination particularly in the periventricular areas of the brain. Peripheral nerves are not affected. Onset usually in third or fourth decade with intermittent progression over an extended period. The cause is still uncertain.
SIMILARITY: Belongs to the protein-tyrosine phosphatase family. Receptor class 1/6 subfamily.
SIMILARITY: Contains 2 fibronectin type-III domains.
SIMILARITY: Contains 2 tyrosine-protein phosphatase domains.
WEB RESOURCE: Name=PTPRCbase; Note=PTPRC mutation db; URL="http://bioinf.uta.fi/PTPRCbase/";
WEB RESOURCE: Name=Wikipedia; Note=CD45 entry; URL="http://en.wikipedia.org/wiki/CD45";

-  MalaCards Disease Associations
  MalaCards Gene Search: PTPRC
Diseases sorted by gene-association score: severe combined immunodeficiency, t cell-negative, b-cell/natural killer-cell positive* (884), hepatitis c virus* (407), severe combined immune deficiency, autosomal recessive t cell-negative, b cell-positive, nk cell-positive, ptprc-related* (100), lymphoblastic lymphoma (22), anaplastic large cell lymphoma (16), myeloid sarcoma (14), pancreas lymphoma (14), plasmablastic lymphoma (13), reticulosarcoma (12), lymphosarcoma (12), reticulum cell sarcoma (12), t cell deficiency (12), cd45 deficiency (12), interdigitating dendritic cell sarcoma (11), severe combined immunodeficiency (10), vulvar leiomyosarcoma (10), predominantly cortical thymoma (10), giant cell tumor (10), primitive neuroectodermal tumor of the cervix uteri (9), plasmacytoma (9), dendritic cell tumor (9), retroperitoneal fibrosis (9), hodgkin's lymphoma, mixed cellularity (9), heart lymphoma (8), nodular tenosynovitis (8), hodgkin's lymphoma, lymphocytic depletion (8), histiocytic and dendritic cell cancer (8), brain sarcoma (8), autoimmune lymphoproliferative syndrome (8), thymoma (8), pigmented villonodular synovitis (8), primary cutaneous anaplastic large cell lymphoma (7), lymphoproliferative syndrome (7), ewing sarcoma (7), rhabdoid cancer (7), olfactory neuroblastoma (7), extraosseous osteosarcoma (7), extracutaneous mastocytoma (7), extraskeletal ewing sarcoma (7), chronic monocytic leukemia (7), sarcomatoid squamous cell skin carcinoma (7), endometrial small cell carcinoma (7), mucinous cystadenocarcinoma (7), testicular lymphoma (7), histiocytoma (7), histiocytosis (7), lymphatic system cancer (6), lymphoma, non-hodgkin (6), malignant giant cell tumor of soft parts (6), multicentric reticulohistiocytosis (6), small cell carcinoma (6), vulvar sarcoma (6), conventional fibrosarcoma (6), gastric small cell carcinoma (6), demyelinating disease (6), diffuse cutaneous mastocytosis (6), liver inflammatory pseudotumor (6), epidural neoplasm (6), glomeruloid hemangioma (6), desmoplastic small round cell tumor (5), cd3epsilon deficiency (5), colon lymphoma (5), ovarian lymphoma (5), testicular infarct (5), malignant fibroxanthoma (5), kidney rhabdoid cancer (5), idiopathic interstitial pneumonia (5), lymphoepithelioma-like carcinoma (5), cystadenocarcinoma (5), hermansky-pudlak syndrome 3 (5), plasma cell neoplasm (4), cd3gamma deficiency (4), reticulohistiocytic granuloma (4), hodgkin lymphoma (4), immune system organ benign neoplasm (4), thymus lipoma (4), gamma heavy chain disease (4), cloacogenic carcinoma (4), testis seminoma (4), follicular mucinosis (4), small intestine lymphoma (4), bone ewing's sarcoma (4), rhabdomyosarcoma (3), breast cancer (3), multiple myeloma (2), chronic lymphocytic leukemia (2), multiple sclerosis, disease progression, modifier of (1), combined t cell and b cell immunodeficiency (1), leukemia, acute promyelocytic, somatic (1), leber congenital amaurosis (1), leukemia, acute myeloid (1)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 120.29 RPKM in Whole Blood
Total median expression: 358.64 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -56.50213-0.265 Picture PostScript Text
3' UTR -220.401102-0.200 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR003961 - Fibronectin_type3
IPR013783 - Ig-like_fold
IPR016335 - Leukocyte_common_ag
IPR024739 - PTP_recept_N
IPR000387 - Tyr/Dual-specificity_Pase
IPR016130 - Tyr_Pase_AS
IPR000242 - Tyr_Pase_rcpt/non-rcpt

Pfam Domains:
PF12567 - Leukocyte receptor CD45
PF00041 - Fibronectin type III domain
PF12453 - Protein tyrosine phosphatase N terminal
PF00102 - Protein-tyrosine phosphatase

Protein Data Bank (PDB) 3-D Structure
MuPIT help
1YGR - X-ray MuPIT 1YGU - X-ray MuPIT


ModBase Predicted Comparative 3D Structure on P08575
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-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGIRGD    
Protein SequenceProtein Sequence    
AlignmentAlignment    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0004721 phosphoprotein phosphatase activity
GO:0004725 protein tyrosine phosphatase activity
GO:0005001 transmembrane receptor protein tyrosine phosphatase activity
GO:0005515 protein binding
GO:0016787 hydrolase activity
GO:0016791 phosphatase activity
GO:0019901 protein kinase binding

Biological Process:
GO:0001915 negative regulation of T cell mediated cytotoxicity
GO:0001960 negative regulation of cytokine-mediated signaling pathway
GO:0002244 hematopoietic progenitor cell differentiation
GO:0002378 immunoglobulin biosynthetic process
GO:0006469 negative regulation of protein kinase activity
GO:0006470 protein dephosphorylation
GO:0006933 negative regulation of cell adhesion involved in substrate-bound cell migration
GO:0007166 cell surface receptor signaling pathway
GO:0016311 dephosphorylation
GO:0030217 T cell differentiation
GO:0030890 positive regulation of B cell proliferation
GO:0035335 peptidyl-tyrosine dephosphorylation
GO:0042100 B cell proliferation
GO:0042102 positive regulation of T cell proliferation
GO:0043312 neutrophil degranulation
GO:0044770 cell cycle phase transition
GO:0045860 positive regulation of protein kinase activity
GO:0048539 bone marrow development
GO:0048864 stem cell development
GO:0050852 T cell receptor signaling pathway
GO:0050853 B cell receptor signaling pathway
GO:0050857 positive regulation of antigen receptor-mediated signaling pathway
GO:0051209 release of sequestered calcium ion into cytosol
GO:0051607 defense response to virus
GO:0051726 regulation of cell cycle
GO:2000473 positive regulation of hematopoietic stem cell migration
GO:2000648 positive regulation of stem cell proliferation

Cellular Component:
GO:0005886 plasma membrane
GO:0005887 integral component of plasma membrane
GO:0005925 focal adhesion
GO:0009897 external side of plasma membrane
GO:0009986 cell surface
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0030667 secretory granule membrane
GO:0045121 membrane raft
GO:0070062 extracellular exosome


-  Descriptions from all associated GenBank mRNAs
  Y00062 - Human mRNA for T200 leukocyte common antigen (CD45, LC-A).
AK308217 - Homo sapiens cDNA, FLJ98165.
AK307635 - Homo sapiens cDNA, FLJ97583.
AK299986 - Homo sapiens cDNA FLJ53186 partial cds, highly similar to Leukocyte common antigen precursor (EC 3.1.3.48).
AK303539 - Homo sapiens cDNA FLJ61519 complete cds, highly similar to Leukocyte common antigen precursor (EC 3.1.3.48).
AK292131 - Homo sapiens cDNA FLJ76921 complete cds, highly similar to Homo sapiens protein tyrosine phosphatase, receptor type, C (PTPRC), transcript variant 2, mRNA.
Y00638 - Human mRNA for leukocyte common antigen (T200).
BC014239 - Homo sapiens protein tyrosine phosphatase, receptor type, C, mRNA (cDNA clone IMAGE:4565766), partial cds.
AB527417 - Synthetic construct DNA, clone: pF1KB4741, Homo sapiens PTPRC gene for protein tyrosine phosphatase, receptor type, C, without stop codon, in Flexi system.
BC169206 - Synthetic construct Homo sapiens clone IMAGE:9093267 protein tyrosine phosphatase, receptor type, C isoform 1 precursor (PTPRC) gene, partial cds.
AX069420 - Sequence 84 from Patent WO0102600.
AX229789 - Sequence 22 from Patent WO0162968.
AK310898 - Homo sapiens cDNA, FLJ17940.
AK130573 - Homo sapiens cDNA FLJ27063 fis, clone SPL01079.
BC017863 - Homo sapiens protein tyrosine phosphatase, receptor type, C, mRNA (cDNA clone IMAGE:4695712), complete cds.
BC031525 - Homo sapiens protein tyrosine phosphatase, receptor type, C, mRNA (cDNA clone IMAGE:4385226), with apparent retained intron.
BC121086 - Homo sapiens protein tyrosine phosphatase, receptor type, C, mRNA (cDNA clone IMAGE:40119796), complete cds.
BC121087 - Homo sapiens protein tyrosine phosphatase, receptor type, C, mRNA (cDNA clone IMAGE:40119797), complete cds.
BC127656 - Homo sapiens protein tyrosine phosphatase, receptor type, C, mRNA (cDNA clone IMAGE:40119799), complete cds.
BC127657 - Homo sapiens protein tyrosine phosphatase, receptor type, C, mRNA (cDNA clone IMAGE:40119800), complete cds.
BC148257 - Homo sapiens protein tyrosine phosphatase, receptor type, C, mRNA (cDNA clone IMAGE:40119801), complete cds.
AY567999 - Homo sapiens CD45 transcript variant (PTPRC) mRNA, partial cds, alternatively spliced.
AY429565 - Homo sapiens PTPRCv_1 mRNA sequence; alternatively spliced.
AY429566 - Homo sapiens PTPRCv_2 mRNA sequence; alternatively spliced.
BC169207 - Synthetic construct Homo sapiens clone IMAGE:9093268 protein tyrosine phosphatase, receptor type, C isoform 1 precursor (PTPRC) gene, partial cds.
JD224202 - Sequence 205226 from Patent EP1572962.
JD223966 - Sequence 204990 from Patent EP1572962.
JD441086 - Sequence 422110 from Patent EP1572962.
JD348748 - Sequence 329772 from Patent EP1572962.
JD306074 - Sequence 287098 from Patent EP1572962.
JD554270 - Sequence 535294 from Patent EP1572962.
JD531166 - Sequence 512190 from Patent EP1572962.
JD304708 - Sequence 285732 from Patent EP1572962.
JD508893 - Sequence 489917 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa04514 - Cell adhesion molecules (CAMs)
hsa04660 - T cell receptor signaling pathway
hsa04666 - Fc gamma R-mediated phagocytosis
hsa05340 - Primary immunodeficiency

BioCarta from NCI Cancer Genome Anatomy Project
h_tcraPathway - Lck and Fyn tyrosine kinases in initiation of TCR Activation
h_thelperPathway - T Helper Cell Surface Molecules
h_CSKPathway - Activation of Csk by cAMP-dependent Protein Kinase Inhibits Signaling through the T Cell Receptor
h_blymphocytePathway - B Lymphocyte Cell Surface Molecules
h_tcytotoxicPathway - T Cytotoxic Cell Surface Molecules

Reactome (by CSHL, EBI, and GO)

Protein P08575 (Reactome details) participates in the following event(s):

R-HSA-373746 SEMA4D interacts with CD45
R-HSA-6798743 Exocytosis of secretory granule membrane proteins
R-HSA-202214 Dephosphorylation of Lck-pY505 by CD45
R-HSA-416700 Other semaphorin interactions
R-HSA-6798695 Neutrophil degranulation
R-HSA-373755 Semaphorin interactions
R-HSA-202427 Phosphorylation of CD3 and TCR zeta chains
R-HSA-168249 Innate Immune System
R-HSA-422475 Axon guidance
R-HSA-202403 TCR signaling
R-HSA-168256 Immune System
R-HSA-1266738 Developmental Biology
R-HSA-1280218 Adaptive Immune System

-  Other Names for This Gene
  Alternate Gene Symbols: A8K7W6, CD45, ENST00000348564.1, ENST00000348564.10, ENST00000348564.2, ENST00000348564.3, ENST00000348564.4, ENST00000348564.5, ENST00000348564.6, ENST00000348564.7, ENST00000348564.8, ENST00000348564.9, NM_080921, P08575, PTPRC_HUMAN, Q16614, Q9H0Y6, uc001gut.1, uc001gut.2, uc001gut.3, uc001gut.4
UCSC ID: ENST00000348564.11
RefSeq Accession: NM_080921
Protein: P08575 (aka PTPRC_HUMAN)
CCDS: CCDS1398.2

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.