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FLASH GENE

Symbol

PITPNM3

contributors: mct - updated : 27-12-2016

HGNC name	PITPNM family member 3
HGNC id	21043

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

DNA

TYPE	anonymous DNA segment
STRUCTURE	105.29 kb     20 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

N

status

provisional

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_001165966 19 - 7053 NP_001159438 - 938 - 2013 24001613 NM_031220 20 - 7161 NP_112497 - 974 - 2013 24001613

EXPRESSION

Type	restricted

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 Lymphoid/Immune spleen         Nervous brain         Reproductive female system ovary       Visual eye retina

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	six putative transmembrane domains
	a region homologous to phosphatidylinositol (PI) transfer protein
	an acidic domain
	C-terminus necessary for interaction with PYK2

HOMOLOGY

interspecies

homolog to drosophila Rdgb

Homologene

FAMILY

phosphatidyl-inositol transfer protein family

CATEGORY

receptor

SUBCELLULAR LOCALIZATION

plasma membrane

basic FUNCTION	playing a role in the control of calcium and phosphoinositide metabolism downstream of G-protein-coupled receptors
	involved in several more complex pathways affecting photoreceptor survival and light induced response
	PITPNM1, PITPNM2, PITPNM3, PITPNA, PITPNB, PITPNC1 are regulators of phosphoinositide pathways by recruitment to membranes through specific protein interactions to promote molecular exchange between closely opposed membranes i.e., at membrane contact sites

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule	metal binding,
	calcium Ca2+

protein	PITPNM3 as a functional receptor for CCL18 that mediates CCL18 effect and activates intracellular calcium signaling
	upon the binding of CCL18 to PITPNM3, PTK2B translocates from the cytoplasm to the plasma membrane to form a stable complex with PITPNM3, subsequently activating SRC kinase
	CCL18 enhances hepatocellular carcinoma cell migration, invasion, and EMT through the expression of PITPNM3 and the activation of the NFKB1 signaling pathway

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

CORD5

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS

Pitpnm1 null mice showed no hearing defects, possibly due to redundancy with the paralogous genes Pitpnm2 and Pitpnm3