2. Gene
  3. PITPNC1 - phosphatidylinositol transfer protein cytoplasmic 1 Gene

PITPNC1 - phosphatidylinositol transfer protein cytoplasmic 1 Gene

  • Gene
  • Protein
  • Disease
  • Agent
  • Ortholog
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

PITPNC1 Protein Structure

IP_trans

IP_trans: Phosphatidylinositol transfer protein (1 - 243)

  • 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 / 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