Protein-coding gene in the species Homo sapiens
PITPNC1 Identifiers Aliases PITPNC1 , M-RDGB-beta, MRDGBbeta, RDGB-BETA, RDGBB, RDGBB1, phosphatidylinositol transfer protein, cytoplasmic 1, phosphatidylinositol transfer protein cytoplasmic 1External IDs OMIM : 605134 ; MGI : 1919045 ; HomoloGene : 8241 ; GeneCards : PITPNC1 ; OMA :PITPNC1 - orthologs Gene location (Mouse ) Chr. Chromosome 11 (mouse) Band 11|11 E1 Start 107,098,718 bp End 107,361,525 bp
RNA expression patternBgee Human Mouse (ortholog)Top expressed in endothelial cell cartilage tissue Brodmann area 23 lateral nuclear group of thalamus dorsal motor nucleus of vagus nerve middle temporal gyrus parotid gland palpebral conjunctiva islet of Langerhans granulocyte
Top expressed in lateral geniculate nucleus saccule medial dorsal nucleus retinal pigment epithelium medial geniculate nucleus mammillary body triceps brachii muscle lumbar spinal ganglion pontine nuclei sternocleidomastoid muscle
More reference expression data
BioGPS
Wikidata
Phosphatidylinositol transfer protein, cytoplasmic 1 is a protein that in humans is encoded by the PITPNC1 gene .
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. .
References
^ GRCh38: Ensembl release 89: ENSG00000154217 – Ensembl , May 2017
^ GRCm38: Ensembl release 89: ENSMUSG00000040430 – Ensembl , May 2017
"Human PubMed Reference:" . National Center for Biotechnology Information, U.S. National Library of Medicine ."Mouse PubMed Reference:" . National Center for Biotechnology Information, U.S. National Library of Medicine ."Entrez Gene: Phosphatidylinositol transfer protein, cytoplasmic 1" . Retrieved 2017-12-27.
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 .
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Phosphatidylinositol transfer protein, cytoplasmic 1
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