PITPNC1 - phosphatidylinositol transfer protein cytoplasmic 1 Gene

Homo sapiens

Also known as RDGBB; RDGBB1; MRDGBbeta; RDGB-BETA; M-RDGB-beta

Gene ID: 26207 | Gene type: protein coding

About PITPNC1

Cytogenetic location: 17q24.2 Genomic coordinates (GRCh38): 17:67,377,281-67,697,256 (from NCBI)

This gene has 6 transcripts (splice variants), 192 orthologues and 5 paralogues. Ubiquitous expression in brain (RPKM 10.9), lymph node (RPKM 5.0) and 24 other tissues.

Summary

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]

PITPNC1 Products(2)

mRNA	Protein	Name
NM_012417.4	NP_036549.2	cytoplasmic phosphatidylinositol transfer protein 1 isoform a
NM_181671.3	NP_858057.1	cytoplasmic phosphatidylinositol transfer protein 1 isoform b

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables phosphatidic acid binding	IDA IDA: Inferred from direct assay	22822086	GOA
enables phosphatidic acid transfer activity	IDA IDA: Inferred from direct assay	22822086	GOA
NOT enables phosphatidylcholine transporter activity	IDA IDA: Inferred from direct assay	22822086	GOA
enables phosphatidylglycerol binding	IDA IDA: Inferred from direct assay	22822086	GOA
enables phosphatidylinositol binding	IDA IDA: Inferred from direct assay	22822086	GOA
enables phosphatidylinositol transfer activity	IDA IDA: Inferred from direct assay	22822086	GOA
enables phosphatidylinositol transfer activity	IMP IMP: Inferred from mutant phenotype	10531358	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	16189514	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in phospholipid transport	IDA IDA: Inferred from direct assay	22822086	GOA
involved in signal transduction	IMP IMP: Inferred from mutant phenotype	10531358	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in cytoplasm	IDA IDA: Inferred from direct assay	10531358	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

PITPNC1 Protein Structure

IP_trans

0
100
200
300
332 a.a.

Protein Preferred Names

Protein Names

cytoplasmic phosphatidylinositol transfer protein 1

M-rdgB beta

Related Diseases

Diseases

Alias

Retinal Degeneration

Degeneration Of Retina

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS10576	PITPNC1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	PITPNC1	MGD	MGI:1919045
Rattus norvegicus	PITPNC1	RGD	RGD:1597047
Bos taurus	PITPNC1	VGNC	VGNC:107273
Macaca mulatta	PITPNC1	VGNC	VGNC:99204
Felis catus	PITPNC1	VGNC	VGNC:64187
Canis familiaris	PITPNC1	VGNC	VGNC:44585

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