PITPNA phosphatidylinositol transfer protein alpha [Homo sapiens (human)] - Gene

Summary

Official Symbol: PITPNAprovided by HGNC
Official Full Name: phosphatidylinositol transfer protein alphaprovided by HGNC
Primary source: HGNC:HGNC:9001
See related: Ensembl:ENSG00000174238 MIM:600174; AllianceGenome:HGNC:9001
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: PITPN; VIB1A; HEL-S-36; PI-TPalpha
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]
Expression: Ubiquitous expression in brain (RPKM 31.8), thyroid (RPKM 27.9) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 17p13.3

Exon count:: 13

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	17	NC_000017.11 (1517718..1562792, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	17	NC_060941.1 (1406472..1451511, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	17	NC_000017.10 (1421012..1466086, complement)

Chromosome 17 - NC_000017.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Restoration of PITPNA in Type 2 diabetic human islets reverses pancreatic beta-cell dysfunction.
Title: Restoration of PITPNA in Type 2 diabetic human islets reverses pancreatic beta-cell dysfunction.
PDE10A Inhibition Reduces the Manifestation of Pathology in DMD Zebrafish and Represses the Genetic Modifier PITPNA.
Title: PDE10A Inhibition Reduces the Manifestation of Pathology in DMD Zebrafish and Represses the Genetic Modifier PITPNA.
Data show that phosphatidylinositol transfer protein alpha (PITPalpha) is involved in the function of mixed lineage kinase domain-like protein (MLKL) in necroptosis.
Title: MLKL-PITPα signaling-mediated necroptosis contributes to cisplatin-triggered cell death in lung cancer A549 cells.
This protein has been found differentially expressed in thalami from patients with schizophrenia.
Title: Proteome analysis of the thalamus and cerebrospinal fluid reveals glycolysis dysfunction and potential biomarkers candidates for schizophrenia.
the apparent occurrence of an unusual TG 3' splice site in intron 4 is discussed
Title: Violating the splicing rules: TG dinucleotides function as alternative 3' splice sites in U2-dependent introns.
the PITPalpha structure has to relax to allow access to the Ser166 site, and this may occur at the membrane surface where PI delivery is required for receptor-mediated PLC signaling
Title: Phosphorylation of a distinct structural form of phosphatidylinositol transfer protein alpha at Ser166 by protein kinase C disrupts receptor-mediated phospholipase C signaling by inhibiting delivery of phosphatidylinositol to membranes.

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Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Copy number response

Description
Copy number response Haploinsufficency No evidence available (Last evaluated 2012-06-07) ClinGen Genome Curation Page Triplosensitivity No evidence available (Last evaluated 2012-06-07) ClinGen Genome Curation Page

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SHGC-32158 (e-PCR)
- UniSTS:10508

WI-11384 (e-PCR)
- UniSTS:22809

G32460 (e-PCR)
- UniSTS:117045

RH102747 (e-PCR)
- UniSTS:97081

D17S1376E (e-PCR)
- UniSTS:51257

D17S1577 (e-PCR)
- UniSTS:151870

STS-T86162 (e-PCR)
- UniSTS:34150

RH92932 (e-PCR)
- UniSTS:88706

G33137 (e-PCR)
- UniSTS:75152

STS-F09512 (e-PCR)
- UniSTS:9107

A004M12 (e-PCR)
- UniSTS:17823

RH119079 (e-PCR)
- UniSTS:138412

PITPN (e-PCR)
- UniSTS:266694

A009D46 (e-PCR)
- UniSTS:40907

SHGC-34337 (e-PCR)
- UniSTS:45795

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables lipid binding	EXP Inferred from Experiment more info	PubMed
enables phosphatidylcholine binding	IBA Inferred from Biological aspect of Ancestor more info
enables phosphatidylcholine binding	IDA Inferred from Direct Assay more info	PubMed
enables phosphatidylcholine binding	IMP Inferred from Mutant Phenotype more info	PubMed
enables phosphatidylcholine transfer activity	IDA Inferred from Direct Assay more info	PubMed
enables phosphatidylcholine transfer activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables phosphatidylcholine transporter activity	IBA Inferred from Biological aspect of Ancestor more info
enables phosphatidylcholine transporter activity	IDA Inferred from Direct Assay more info	PubMed
enables phosphatidylglycerol binding	TAS Traceable Author Statement more info	PubMed
enables phosphatidylinositol binding	IBA Inferred from Biological aspect of Ancestor more info
enables phosphatidylinositol binding	IDA Inferred from Direct Assay more info	PubMed
enables phosphatidylinositol binding	IMP Inferred from Mutant Phenotype more info	PubMed
enables phosphatidylinositol transfer activity	IBA Inferred from Biological aspect of Ancestor more info
enables phosphatidylinositol transfer activity	IDA Inferred from Direct Assay more info	PubMed
enables phosphatidylinositol transfer activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in axonogenesis	IEA Inferred from Electronic Annotation more info
involved_in intermembrane lipid transfer	IEA Inferred from Electronic Annotation more info
involved_in lipid metabolic process	NAS Non-traceable Author Statement more info	PubMed
involved_in phospholipid transport	IDA Inferred from Direct Assay more info	PubMed
involved_in visual perception	TAS Traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in cytoplasm	ISS Inferred from Sequence or Structural Similarity more info
located_in cytosol	TAS Traceable Author Statement more info
located_in extracellular exosome	HDA more info	PubMed
located_in nucleus	ISS Inferred from Sequence or Structural Similarity more info

General protein information

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Preferred Names: phosphatidylinositol transfer protein alpha isoform

Names: PI-TP-alpha; epididymis secretory protein Li 36; ptdIns transfer protein alpha; ptdInsTP alpha

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_013017.1 RefSeqGene

Range

5025..50099

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_006224.4 → NP_006215.1 phosphatidylinositol transfer protein alpha isoform

See identical proteins and their annotated locations for NP_006215.1

Status: REVIEWED

Source sequence(s)

AC100748, AL542612, BC082976

Consensus CDS

CCDS45563.1

UniProtKB/Swiss-Prot

Q00169

UniProtKB/TrEMBL

Q6NUL6, V9HWC5

Related

ENSP00000316809.7, ENST00000313486.12

Conserved Domains (1) summary

cd08888
Location:3 → 259

SRPBCC_PITPNA-B_like; Lipid-binding SRPBCC domain of mammalian PITPNA, -B, and related proteins (Class I PITPs)

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000017.11 Reference GRCh38.p14 Primary Assembly

Range

1517718..1562792 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_047436299.1 → XP_047292255.1 phosphatidylinositol transfer protein alpha isoform isoform X1

UniProtKB/TrEMBL

B4E1U1

Alternate T2T-CHM13v2.0

Genomic

NC_060941.1 Alternate T2T-CHM13v2.0

Range

1406472..1451511 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054316506.1 → XP_054172481.1 phosphatidylinositol transfer protein alpha isoform isoform X1

UniProtKB/TrEMBL

B4E1U1
XM_054316507.1 → XP_054172482.1 phosphatidylinositol transfer protein alpha isoform isoform X1

UniProtKB/TrEMBL

B4E1U1