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FLASH GENE

Symbol

PTPRC

contributors: mct - updated : 12-01-2016

HGNC name	protein tyrosine phosphatase, receptor type, C
HGNC id	9666

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

DNA

TYPE	functioning gene
STRUCTURE	118.41 kb     33 Exon(s)

Genomic sequence alignment details
10 Kb 5' upstream gene genomic sequence study

regulatory sequence	Promoter
	alternative promoter
text structure	functionnal promoter within the first intron
	exon A involved in alternative splicing associated with changes in T ell maturation

MAPPING

cloned

Y

linked

Y

status

confirmed

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_002838 33 splicing 5330 NP_002829 147.7 1304 - 2000 11101853 precursor isoform 1 NM_080921 30 splicing 4847 NP_563578 - 1143 - 2000 11101853 lacking a 161 AA internal fragment precursor isoform 2 NM_080923 3 splicing 1107 NP_563580 - 34 - 2000 11101853 isoform 4

EXPRESSION

Type

widely

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Digestive liver         Lymphoid/Immune lymph node       highly   spleen       highly   thymus       highly Nervous brain         Respiratory lung         Urinary kidney

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Blood / Hematopoietic bone marrow

cells

System Cell Pubmed Species Stage Rna symbol Blood/Hematopoietic leukocyte

cell lineage	nucleated lineage of hematopoietic cells
cell lines
fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	variable N terminal region
	a cysteine-rich region
	a single transmembrane-spanning region
	a large cytoplasmic domain conserved between species
	two fibronectin type 3 domain
	two protein tyrosine phosphatase domains

conjugated

GlycoP , PhosphoP

mono polymer

homomer , dimer

HOMOLOGY

interspecies

homolog to murine Ptprc

intraspecies

homolog to LY5

Homologene

FAMILY

protein tyrosine phosphatase family

CATEGORY

antigen , receptor membrane serine/threonine tyrosine kinase

SUBCELLULAR LOCALIZATION	extracellular
	plasma membrane

basic FUNCTION	key regulator of Src kinases required for T an B cells antigen receptor signal transduction
	JAK phosphatase, negative regulator of cytokine receptor signaling
	essential for normal T-lymphocyte function, maturation and differentation
	inhibiting PLD2
	negatively regulates JAK family kinases downstream of cytokine receptors
	tumor suppressor role for CD45 in T-cell acute lymphoblastic leukemia
	is a receptor-like tyrosine phosphatase that positively regulates BCR signaling by dephosphorylating the inhibitory tyrosine of the Src family kinases
	PTPRC and PTPRJ are transmembrane tyrosine phosphatases with large ectodomains that have activatory and inhibitory effects on TCR triggering
	PTPRC-mediated T cell function as potentially critical for infection and viral spread to the brain, and also for subsequent Herpes simplex encephalitis (HSE) development
	leukocyte-specific tyrosine phosphatase, that severely impacts T cell development and activation by modulating TCR signaling
	novel role for PTPRC on innate immune cells in promoting lymphopenia-induced T cell proliferation, suggesting that innate immune cells may communicate with stromal cells to regulate IL7 production
	T cell receptor (TCR) phosphorylation requires the kinase LCK and phosphatase PTPRC
	phosphatase PTPRC both positively and negatively regulates T cell receptor phosphorylation in reconstituted membrane protein clusters
	positively regulates chemoattractant signaling acting on Src family kinases (SFKs) activity

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

signal transduction

a component

isoform 4 forms homodimer, resulting in decreased signaling via the T cell receptor

INTERACTION

DNA

RNA

small molecule

protein	HNRNPLL is a critical inducible regulator of PTPRC alternative splicing
	functions to regulate PTK2/FAK activity, likely through the activity of Src family kinases, which in turn regulates the levels of paxillin to modulate macrophage adhesion and migration
	spatial regulation of LCK by PTPRC and GM1 ganglioside determines the outcome of apoptotic response to LGALS1 and this local regulation may occur only upon intimate effector (LGALS1 expressing) cell-T-cell attachment
	SLC39A10 likely functions as a positive regulator of PTPRC to modulate the BCR signal strength, thereby setting a threshold for BCR signaling in humoral immune responses
	loss of function in SLAMF7 observed in PTPRC-deficient NK cells
	in T-cells, cholesterol-dependent membrane domains function in the regulation of the Src family kinase LCK by sequestering LCK from its activator PTPRC

cell & other

REGULATION

Other	regulated by HNRNPLL, a critical inducible regulator of CD45 alternative splicing
	cleaved by serine/metalloproteinases and gamma-secretases during activation of monocytes and granulocytes and the intracellular fragment can function as inhibitory messenger for T cells

ASSOCIATED DISORDERS

corresponding disease(s)

SCIDNK

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional somatic mutation       abnormal splicing in hemophagocytic lymphohitiocytosis in association with perforin mutation tumoral somatic mutation     gain of function in T-cell acute lymphoblastic leukemia

Susceptibility

to multiple sclerosis to Graves disease or hepatitis B infection to severe outcome in hepatitis C

Variant & Polymorphism SNP	138 G allele protecting against Graves disease or hepatitis B infection
	allele C77G associated to severe outcome in hepatitis C
	a SNP is associated with the response to anti-TNF therapy and an rheumatoid arthritis risk allele

Candidate gene
Marker
Therapy target
	System Type Disorder Pubmed cancer hemopathy   antigenic marker with which to identify undifferentiated hematopoietic tumors

ANIMAL & CELL MODELS

bone marrow derived macrophages from Ptprc-deficient mice exhibit abnormal cell morphology and defective motility