Human Gene PTPRC (uc001gur.2) Description and Page Index
  Description: Homo sapiens protein tyrosine phosphatase, receptor type, C (PTPRC), transcript variant 1, mRNA.
RefSeq Summary (NM_002838): 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].
Transcript (Including UTRs)
   Position: hg19 chr1:198,608,098-198,726,605 Size: 118,508 Total Exon Count: 33 Strand: +
Coding Region
   Position: hg19 chr1:198,608,399-198,725,310 Size: 116,912 Coding Exon Count: 32 

Page IndexSequence and LinksUniProtKB CommentsGenetic AssociationsMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
mRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated: 2013-06-15

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr1:198,608,098-198,726,605)mRNA (may differ from genome)Protein (1306 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
BioGPSCGAPEnsemblEntrez GeneExonPrimerGeneCards
GeneNetworkH-INVHGNCHPRDLynxMGI
OMIMPubMedStanford SOURCEUniProtKBWikipedia

-  Comments and Description Text from UniProtKB
  ID: B1ALS2_HUMAN
DESCRIPTION: SubName: Full=Protein tyrosine phosphatase, receptor type, C; SubName: Full=Protein tyrosine phosphatase, receptor type, C, isoform CRA_d; SubName: Full=Receptor-type tyrosine-protein phosphatase C;
CATALYTIC ACTIVITY: Protein tyrosine phosphate + H(2)O = protein tyrosine + phosphate.

-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): PTPRC
CDC HuGE Published Literature: PTPRC
Positive Disease Associations: abnormal splicing , HTLV-1 associated myelopathy/tropical spastic; paraparesis , lupus erythematosus; sclerosis, systemic , multiple sclerosis , systemic sclerosis
Related Studies:
  1. abnormal splicing
    Tchilian EZ et al. 2002, A CD45 polymorphism associated with abnormal splicing is absent in African populations., Immunogenetics. 2002 Feb;53(11-Oct):980-3. [PubMed 11862398]
    We further show that populations living in the Pamir mountains of Central Asia have a very high prevalence of the C77G variant.
  2. HTLV-1 associated myelopathy/tropical spastic; paraparesis
    Sabouri, A. H. et al. 2003, A C77G point mutation in CD45 exon 4, which is associated with the development of multiple sclerosis and increased susceptibility to HIV-1 infection, is undetectable in Japanese population., European journal of neurology. 2003 Nov;10(6):737-9. [PubMed 14641523]
    All 272 subjects showed homozygosity in the CD45 exon 4, suggesting that this mutation is absent or very rare in Japanese population.
  3. HTLV-1 associated myelopathy/tropical spastic; paraparesis
    Tchilian, E. Z. et al. 2002, A CD45 polymorphism associated with abnormal splicing is absent in African populations., Immunogenetics. 2002 Feb;53(11-Oct):980-3. [PubMed 11862398]
    We further show that populations living in the Pamir mountains of Central Asia have a very high prevalence of the C77G variant.
           more ... click here to view the complete list

-  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

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  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
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-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -59.70213-0.280 Picture PostScript Text
3' UTR -271.111295-0.209 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:
PF00041 - Fibronectin type III domain
PF00102 - Protein-tyrosine phosphatase
PF12453 - Protein tyrosine phosphatase N terminal
PF12567 - Leukocyte receptor CD45

SCOP Domains:
49265 - Fibronectin type III
52799 - (Phosphotyrosine protein) phosphatases II

ModBase Predicted Comparative 3D Structure on B1ALS2
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  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
No orthologGenome BrowserGenome BrowserNo orthologNo orthologNo ortholog
 Gene Details    
 Gene Sorter    
 RGDEnsembl   
 Protein SequenceProtein Sequence   
 AlignmentAlignment   

-  Descriptions from all associated GenBank mRNAs
  Y00062 - Human mRNA for T200 leukocyte common antigen (CD45, LC-A).
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).
AB527417 - Synthetic construct DNA, clone: pF1KB4741, Homo sapiens PTPRC gene for protein tyrosine phosphatase, receptor type, C, without stop codon, in Flexi system.
AK308217 - Homo sapiens cDNA, FLJ98165.
AX069420 - Sequence 84 from Patent WO0102600.
AX229789 - Sequence 22 from Patent WO0162968.
AK310898 - Homo sapiens cDNA, FLJ17940.
AK307635 - Homo sapiens cDNA, FLJ97583.
AK130573 - Homo sapiens cDNA FLJ27063 fis, clone SPL01079.
AK299986 - Homo sapiens cDNA FLJ53186 partial cds, highly similar to Leukocyte common antigen precursor (EC 3.1.3.48).
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.
BC014239 - Homo sapiens protein tyrosine phosphatase, receptor type, C, mRNA (cDNA clone IMAGE:4565766), partial cds.
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.
BC169206 - Synthetic construct Homo sapiens clone IMAGE:9093267 protein tyrosine phosphatase, receptor type, C isoform 1 precursor (PTPRC) gene, partial cds.
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.
JD549073 - Sequence 530097 from Patent EP1572962.
JD441086 - Sequence 422110 from Patent EP1572962.
JD358258 - Sequence 339282 from Patent EP1572962.
JD146933 - Sequence 127957 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.
JD350574 - Sequence 331598 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

-  Other Names for This Gene
  Alternate Gene Symbols: B1ALS2, B1ALS2_HUMAN, hCG_1811178, NM_002838, NP_002829, RP11-553K8.4-001, uc001gur.1
UCSC ID: uc001gur.2
RefSeq Accession: NM_002838
Protein: B1ALS2 CCDS: CCDS1397.2

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_002838.4
exon count: 33CDS single in 3' UTR: no RNA size: 5429
ORF size: 3921CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 7944.00frame shift in genome: no % Coverage: 100.00
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

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