Phosphatidylinositol transfer protein, cytoplasmic 1

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; OMA:PITPNC1 - orthologs
Gene location (Human)
Chr.	Chromosome 17 (human)
End	67,697,256 bp
Gene location (Mouse)
Chr.	Chromosome 11 (mouse)
End	107,361,525 bp
RNA expression pattern
	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
	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
	26207
	71795
	ENSG00000154217
	ENSMUSG00000040430
	Q9UKF7
	Q8K4R4
	NM_012417; NM_181671
	NM_145823; NM_001359616
	NP_036549; NP_858057
	NP_665822; NP_001346545
	Wikidata
View/Edit Human	View/Edit Mouse

Phosphatidylinositol transfer protein, cytoplasmic 1 is a protein that in humans is encoded by the PITPNC1 gene. ^[5]

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].

References

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000154217 – Ensembl, May 2017
^ ^a ^b ^c 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.

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.{{cite journal}}: CS1 maint: unflagged free DOI (link)
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.

This article on a gene on human chromosome 17 is a stub. You can help Wikipedia by expanding it.

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000154217 – Ensembl, May 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000040430 – Ensembl, May 2017

[3] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[4] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[entrez-5] "Entrez Gene: Phosphatidylinositol transfer protein, cytoplasmic 1". Retrieved 2017-12-27.

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Function

References

Further reading