PITPNC1 Gene Summary [Human]

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]

Details

Type
Protein Coding
Official Symbol
PITPNC1
Official Name
phosphatidylinositol transfer protein cytoplasmic 1 [Source:HGNC Symbol;Acc:HGNC:21045]
Ensembl ID
ENSG00000154217
Bio databases IDs NCBI: 26207 Ensembl: ENSG00000154217
Aliases phosphatidylinositol transfer protein cytoplasmic 1
Synonyms 1110020B03RIK, 5830436L09Rik, C330017I21Rik, Dnr411, M-RDGB-beta, M-RDGB-β, phosphatidylinositol transfer protein cytoplasmic 1, phosphatidylinositol transfer protein, cytoplasmic 1, RDGBB, RDGBB1, RDGB-BETA, RDGB-β
Species
Human, Homo sapiens
OrthologiesMouse

Protein Domains

A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human PITPNC1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
  • SRPBCC domain
  • lipid transporter
  • phospholipid binding
  • binding protein
  • phospholipid transporter
  • Phosphatidylinositol transfer protein
  • phosphatidylinositol transporter
  • protein binding
  • phosphatidylinositol binding
  • transporter

Top Findings

The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
  • asthma
  • non-insulin-dependent diabetes mellitus
  • schizophrenia
  • chronic central serous chorioretinopathy
  • pervasive developmental disorder
  • duodenal ulcer
  • Rett syndrome
regulated by
regulates
  • phosphatidylinositol
  • phospholipid

Subcellular Expression

Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
  • Cytoplasm
  • Nucleus
  • cytosol
  • nucleoplasm

Gene Ontology Annotations

Describes the biological processes, cellular components, and molecular functions associated with the human PITPNC1 gene, providing context for its role in the cell.

Biological Process

Functions and activities the gene product is involved in
  • signal transduction
  • phospholipid transport

Cellular Component

Where in the cell the gene product is active
  • cytoplasm
  • cytosol
  • nucleoplasm

Molecular Function

What the gene product does at the molecular level
  • protein binding
  • phosphatidylinositol binding
  • phosphatidic acid binding
  • phosphatidylinositol transporter activity
  • phosphatidylcholine transporter activity

Gene-Specific Assays for Results You Can Trust

Streamline your workflow with assays designed for this gene. Our targeted dPCR and qPCR assays help you generate meaningful data – efficiently and accurately.