PITPNB - phosphatidylinositol transfer protein beta Gene

Homo sapiens

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

Gene ID: 23760 | Gene type: protein coding

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	Reference	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	Reference	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

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

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS10575	PITPNB Human Pre-designed siRNA Set A	Pre-designed Sets	/	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

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