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FLASH GENE

Symbol

PITPNB

contributors: mct - updated : 23-12-2016

HGNC name	phosphotidylinositol transfer protein, beta
HGNC id	9002

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_001284277 11 - 2895 NP_001271206 - 272 both PITPNB variants localize to the Golgi 2006 16780419 variant (sp2) the C-terminal 15 amino acids of PITPNB-sp1 are replaced by an alternative C-terminus of 16 amino acids is a product of the first 10 exons followed by the twelfth exon--exon 11 being 'skipped' lacks the constitutively phosphorylated Ser262 (replaced with glutamine) NM_012399 12 - 2981 NP_036531 - 271 both PITPNB variants localize to the Golgi 2006 16780419 variant (sp1) is the product of the first 11 exons NM_001284278 12 - 2959 NP_001271207 - 273 - 2006 16780419 variant (sp3)

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 esophagus       highly Endocrine thyroid       highly Nervous brain         Reproductive female system uterus cervix   highly Respiratory respiratory tract trachea     highly

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	N-terminal PITP domain
	Ser262 present in the C-terminus of PITPNB is constitutively phosphorylated and determines Golgi localization

HOMOLOGY

interspecies

homolog to murine Pitpub

intraspecies

homolog to PITPN

Homologene

FAMILY	PTDINS transfer protein family
	Class I PITP family

CATEGORY

transport carrier

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,organelle,membrane
	intracellular,cytoplasm,organelle,endoplasmic reticulum
	intracellular,cytoplasm,organelle,Golgi
text	localise to the Golgi and ER

basic FUNCTION	catalyzing the transfer of PTDINS and phosphatidylcholine between membranes
	essential protein that possesses phosphatidylinositol (PtdIns) and phosphatidylcholine (PtdCho) lipid transfer activity, and PtdIns and PtdCho exchange activity of PITPNB is essential for COPI-mediated retrograde transport from the Golgi to the ER
	is essential and is required for retrograde traffic from the Golgi to the endoplasmic reticulum and for maintenance of the nuclear architecture
	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

text	vesicular transport

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein

binding and transferring sphingomyelin (SM), activity correlated with phosphorylation of Ser262, which is only present in PITPNB

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional     --over   in Atopic dermatitis (AD)

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS