Phosphatidylinositol transfer protein, cytoplasmic 1

Phosphatidylinositol transfer protein, cytoplasmic 1 is a protein that in humans is encoded by the PITPNC1 gene.

PITPNC1
Identifiers
Aliases	PITPNC1, M-RDGB-beta, MRDGBbeta, RDGB-BETA, RDGBB, RDGBB1, phosphatidylinositol transfer protein, cytoplasmic 1, phosphatidylinositol transfer protein cytoplasmic 1
External IDs	OMIM: 605134 MGI: 1919045 HomoloGene: 8241 GeneCards: PITPNC1
Gene location (Human) Chr. Chromosome 17 (human) Band 17q24.2 Start 67,377,281 bp End 67,697,256 bp
Gene location (Mouse) Chr. Chromosome 11 (mouse) Band 11|11 E1 Start 107,098,718 bp End 107,361,525 bp
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in endothelial cell Brodmann area 23 middle temporal gyrus parotid gland palpebral conjunctiva islet of Langerhans blood germinal epithelium caudate nucleus internal globus pallidus Top expressed in lateral geniculate nucleus saccule medial dorsal nucleus retinal pigment epithelium medial geniculate nucleus mammillary body triceps brachii muscle pontine nuclei sternocleidomastoid muscle supraoptic nucleus More reference expression data BioGPS n/a
Gene ontology Molecular function protein binding lipid binding phosphatidylcholine transporter activity phosphatidylinositol transfer activity phosphatidylinositol binding phosphatidic acid binding phosphatidylglycerol binding phospholipid transporter activity Cellular component cytoplasm intracellular anatomical structure nucleoplasm cytosol Biological process lipid transport signal transduction phospholipid transport Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 26207 71795 Ensembl ENSG00000154217 ENSMUSG00000040430 UniProt Q9UKF7 Q8K4R4 RefSeq (mRNA) NM_012417 NM_181671 NM_145823 NM_001359616 RefSeq (protein) NP_036549 NP_858057 NP_665822 NP_001346545 Location (UCSC) Chr 17: 67.38 – 67.7 Mb Chr 11: 107.1 – 107.36 Mb PubMed search
Wikidata
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Function

This gene encodes a member of the phosphatidylinositol transfer protein family. The encoded cytoplasmic protein plays a role in multiple processes including cell signaling and lipid metabolism by facilitating the transfer of phosphatidylinositol between membrane compartments. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene, and a pseudogene of this gene is located on the long arm of chromosome 1. [provided by RefSeq, May 2012].

Further reading

• Garner K, Li M, Ugwuanya N, Cockcroft S (2011). "The phosphatidylinositol transfer protein RdgBβ binds 14-3-3 via its unstructured C-terminus, whereas its lipid-binding domain interacts with the integral membrane protein ATRAP (angiotensin II type I receptor-associated protein)". Biochem. J. 439 (1): 97–111. doi:10.1042/BJ20110649. PMID 21728994.
• Garner K, Hunt AN, Koster G, Somerharju P, Groves E, Li M, Raghu P, Holic R, Cockcroft S (2012). "Phosphatidylinositol transfer protein, cytoplasmic 1 (PITPNC1) binds and transfers phosphatidic acid". J. Biol. Chem. 287 (38): 32263–76. doi:10.1074/jbc.M112.375840. PMC 3442557. PMID 22822086.
• Greenawalt DM, Sieberts SK, Cornelis MC, Girman CJ, Zhong H, Yang X, Guinney J, Qi L, Hu FB (2012). "Integrating genetic association, genetics of gene expression, and single nucleotide polymorphism set analysis to identify susceptibility Loci for type 2 diabetes mellitus". Am. J. Epidemiol. 176 (5): 423–30. doi:10.1093/aje/kws123. PMC 3499116. PMID 22865700.

This article incorporates text from the United States National Library of Medicine, which is in the public domain.