PITPNA - phosphatidylinositol transfer protein alpha Gene

Homo sapiens

Also known as PITPN; VIB1A; HEL-S-36; PI-TPalpha

Gene ID: 5306 | Gene type: protein coding

About PITPNA

Cytogenetic location: 17p13.3 Genomic coordinates (GRCh38): 17:1,517,718-1,562,792 (from NCBI)

This gene has 10 transcripts (splice variants), 274 orthologues and 5 paralogues. Ubiquitous expression in brain (RPKM 31.8), thyroid (RPKM 27.9) and 25 other tissues.

Summary

This gene encodes a member of a family of lipid-binding proteins that transfer molecules of phosphatidylinositol or phosphatidylcholine between membrane surfaces. The protein is implicated in Phospholipase C signaling and in the production of phosphatidylinositol 3,4,5-trisphosphate (PIP3) by phosphoinositide-3-kinase.[provided by RefSeq, Sep 2009]

PITPNA Products(1)

mRNA	Protein	Name
NM_006224.4	NP_006215.1	phosphatidylinositol transfer protein alpha isoform

Gene Ontology

Molecular Function
Biological Process

Molecular Function GO Annotation	Evidence	Reference	Source
enables lipid binding	EXP EXP: Inferred from Experiment	14962392	GOA
enables phosphatidylcholine binding	IDA IDA: Inferred from direct assay	15522822	GOA
enables phosphatidylcholine binding	IMP IMP: Inferred from mutant phenotype	14962392	GOA
enables phosphatidylcholine transfer activity	IDA IDA: Inferred from direct assay	15522822	GOA
enables phosphatidylcholine transfer activity	IMP IMP: Inferred from mutant phenotype	14962392	GOA
enables phosphatidylcholine transporter activity	IDA IDA: Inferred from direct assay	16274224	GOA
enables phosphatidylinositol binding	IDA IDA: Inferred from direct assay	15522822	GOA
enables phosphatidylinositol binding	IMP IMP: Inferred from mutant phenotype	14962392	GOA
enables phosphatidylinositol transfer activity	IDA IDA: Inferred from direct assay	10531358	GOA
enables phosphatidylinositol transfer activity	IMP IMP: Inferred from mutant phenotype	14962392	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

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

PITPNA Protein Structure

IP_trans

0
100
200
270 a.a.

Protein Preferred Names

Protein Names

phosphatidylinositol transfer protein alpha isoform

PI-TP-alpha

PITPNA Protein-protein interaction Information

Type Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
Intra	PITPNA	Q00169	UQCRC1	Homo sapiens	P31930	Validated Y2H	32814053
Intra	PITPNA	Q00169	UQCRC1	Homo sapiens	P31930	Y2H Pooling	32814053
Intra	PITPNA	Q00169	UQCRC1	Homo sapiens	P31930	Y2H Array	32814053

Cross: Cross-species interaction Intra: Intraspecies interaction

Recombinant PITPNA Proteins

Cat. No.	Product Name	Accession	Purity
HY-P71207	PITPNA Protein, Human (His)	Q00169 (M1-D270)	≥95%

Related Diseases

Diseases

Alias

Cerebellar Ataxia, Cayman Type

Cayman Type Cerebellar Ataxia	Ataxia, Cerebellar, Cayman Type
ATCAY	Cayman Cerebellar Ataxia
Cayman Ataxia

Retinal Degeneration

Degeneration Of Retina

Tangier Disease

Analphalipoproteinemia	High Density Lipoprotein Deficiency, Tangier Type
TGD	High Density Lipoprotein Deficiency, Type 1
Hdldt1	Familial High Density Lipoprotein Deficiency
A-Alphalipoprotein Neuropathy	Alpha High Density Lipoprotein Deficiency Disease
Cholesterol Thesaurismosis	Familial High Density Lipoprotein Deficiency Disease
Hdl Lipoprotein Deficiency Disease	Tangier Disease Neuropathy
Familial Alpha-Lipoprotein Deficiency	Familial High-Density Lipoprotein Deficiency 1
Primary Hypoalphalipoproteinemia 1	Analphalipo-Proteinemia
Familial Hypoalphalipo-Proteinemia	Familial Hypoalphalipoproteinemia
Lipoprotein Deficiency Disease, Hdl, Familial	Tangier Hereditary Neuropathy
Atp-Binding Cassette Transporter A1 Deficiency	Hdld1
High Density Lipoprotein Deficiency 1	Tangier Disease, Variant
Hypoalphalipoproteinemia, Familial	Familial Hdl Deficiency

Miller-Dieker Lissencephaly Syndrome

Miller-Dieker Syndrome	Mds
MDLS	Miller Dieker Syndrome
Classical Lissencephaly Syndrome	Lissencephaly Due To 17p13.3 Deletion
Monosomy 17p13.3	Telomeric Deletion 17p
Classical Lissencephaly

Chromosome 17p13.3, Centromeric, Duplication Syndrome

Chromosome 17p13.3 Duplication Syndrome	17p13.3 Duplication Syndrome
17p13.3 Microduplication Syndrome	Trisomy 17p13.3
Chromosome 17p13.3 Centromeric Duplication Syndrome	Dup(17)(P13.3)

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-RS10574	PITPNA Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Macaca mulatta	PITPNA	VGNC	VGNC:99196
Felis catus	PITPNA	VGNC	VGNC:68867
Mus musculus	PITPNA	MGD	MGI:99887
Bos taurus	PITPNA	VGNC	VGNC:32919
Canis familiaris	PITPNA	VGNC	VGNC:44583
Rattus norvegicus	PITPNA	RGD	RGD:61885
Others	PITPNA	NCBI

Name
Email *

	Sorry, but the email address you supplied was invalid.