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PITPNA - phosphatidylinositol transfer protein alpha Gene

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

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 5306

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	References	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	References	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	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
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)	≥ 90%, as determined by reducing SDS-PAGE.

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

Pre-clinical Phase

Bioactive Molecules (3)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS10574	PITPNA Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS21908	Pitpna Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS28425	Pitpna Rat Pre-designed siRNA Set A	Pre-designed Set	/	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