PITPNB - phosphatidylinositol transfer protein beta Gene

Also Known as VIB1B; PtdInsTP; PI-TP-beta

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 23760

About PITPNB

Cytogenetic location: 22q12.1 Genomic coordinates (GRCh38): 22:27,851,669-27,919,256 (from NCBI)

This gene has 10 transcripts (splice variants), 221 orthologues and 5 paralogues. Ubiquitous expression in esophagus (RPKM 27.0), urinary bladder (RPKM 21.0) and 25 other tissues.

Summary

This gene encodes a cytoplasmic protein that catalyzes the transfer of phosphatidylinositol and phosphatidylcholine between membranes. This transfer activity is required for COPI complex-mediated retrograde transport from the Golgi apparatus to the endoplasmic reticulum. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Sep 2013]

PITPNB Products (3)

mRNA Protein Name
NM_001284277.2 NP_001271206.1 phosphatidylinositol transfer protein beta isoform isoform 2
NM_001284278.2 NP_001271207.1 phosphatidylinositol transfer protein beta isoform isoform 3
NM_012399.5 NP_036531.1 phosphatidylinositol transfer protein beta isoform isoform 1

Gene Ontology

  • Molecular Function
  • Biological Process
Molecular Function GO Annotation Evidence References Source
enables phosphatidylcholine binding IDA
IDA: Inferred from direct assay
16274224 GOA
enables phosphatidylcholine transfer activity EXP
EXP: Inferred from Experiment
11104777 GOA
enables phosphatidylcholine transfer activity IMP
IMP: Inferred from mutant phenotype
18636990 GOA
enables phosphatidylcholine transporter activity IDA
IDA: Inferred from direct assay
16274224 GOA
enables phosphatidylinositol binding IDA
IDA: Inferred from direct assay
16274224 GOA
enables phosphatidylinositol transfer activity EXP
EXP: Inferred from Experiment
11104777 GOA
enables phosphatidylinositol transfer activity IDA
IDA: Inferred from direct assay
10531358 GOA
enables phosphatidylinositol transfer activity IMP
IMP: Inferred from mutant phenotype
18636990 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
32814053 GOA
Biological Process GO Annotation Evidence References Source
involved in phospholipid transport IDA
IDA: Inferred from direct assay
16274224 GOA
involved in retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum IMP
IMP: Inferred from mutant phenotype
20332109 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

PITPNB Protein Structure

IP_trans

IP_trans: Phosphatidylinositol transfer protein (2 - 254)

  • 0
  • 100
  • 200
  • 271 a.a.
Protein Preferred Names Protein Names

phosphatidylinositol transfer protein beta isoform

  • PtdIns transfer protein beta

Related Diseases

Diseases Alias
Cone-Rod Dystrophy 5

  • CORD5

  • Dystrophy, Cone-Rod, Type 5
Nonparalytic Poliomyelitis

  • Acute Nonparalytic Poliomyelitis

  • Non-Paralytic Aseptic Meningitis
Cleft Soft Palate

  • Cleft Velum

  • Cleft Velum Palatinum

  • Soft Cleft Palate

  • Soft Palate Perforation
Cerebellopontine Angle Tumor

  • Cerebellopontine Angle Tumour

  • Neoplasm Of The Cerebellopontine Angle
Cone-Rod Dystrophy 2

  • Cone-Rod Dystrophy

  • CORD2

  • Cone-Rod Retinal Dystrophy

  • Rcrd2

  • Cone-Rod Retinal Dystrophy 2

  • Crd2

  • Cord

  • Crd

  • Retinal Cone-Rod Dystrophy

  • Cone-Rod Retinal Dystrophy-2

  • Retinal Cone-Rod Dystrophy 2

  • Tapetoretinal Degeneration

  • Cone-Rod Degeneration

  • Cone Rod Dystrophy

  • Dystrophy, Cone-Rod

  • Dystrophy, Cone-Rod, Type 2

  • Retinitis Pigmentosa

  • Retinitis Pigmentosa 2

  • Progressive Cone-Rod Dystrophy
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-RS10575 PITPNB Human Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

Species Symbol Source ID
Rattus norvegicus PITPNB RGD RGD:620143
Canis familiaris PITPNB VGNC VGNC:44584
Felis catus PITPNB VGNC VGNC:68868
Macaca mulatta PITPNB VGNC VGNC:76006
Bos taurus PITPNB VGNC VGNC:32920
Mus musculus PITPNB MGD MGI:1927542
Others PITPNB NCBI