PITPNC1 - phosphatidylinositol transfer protein cytoplasmic 1 Gene

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

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 26207

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	References	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	References	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	References	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

PITPNC1 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	PITPNC1	Q9UKF7	CMTM5	Homo sapiens	Q96DZ9	Y2H Prey Pooling	25416956
Intra	PITPNC1	Q9UKF7	AGTRAP	Homo sapiens	Q6RW13	Y2H Pooling	16189514
Intra	PITPNC1	Q9UKF7	AGTRAP	Homo sapiens	Q6RW13	Validated Y2H	25416956
Intra	PITPNC1	Q9UKF7	AGTRAP	Homo sapiens	Q6RW13	Y2H Array	19060904
Intra	PITPNC1	Q9UKF7	AGTRAP	Homo sapiens	Q6RW13	Y2H Array	25416956
Intra	PITPNC1	Q9UKF7	AGTRAP	Homo sapiens	Q6RW13	Y2H Pooling	19060904

Cross: Cross-species interaction Intra: Intraspecies interaction

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

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 Set	/	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
Others	PITPNC1	NCBI