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

Gene ID: 5306, updated on 3-Jan-2019

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
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

Genomic context

See PITPNA in Genome Data Viewer
Location:
17p13.3
Exon count:
12
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 17 NC_000017.11 (1517989..1562816, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (1421283..1466110, complement)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene myosin IC Neighboring gene uncharacterized LOC105371483 Neighboring gene inositol polyphosphate-5-phosphatase K Neighboring gene PITPNA antisense RNA 1 Neighboring gene solute carrier family 43 member 2 Neighboring gene RNA, 7SL, cytoplasmic 105, pseudogene Neighboring gene scavenger receptor class F member 1

Genomic regions, transcripts, and products

Expression

  • Project title: 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

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

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

Pathways from BioSystems

  • Axon guidance, organism-specific biosystem (from REACTOME)
    Axon guidance, organism-specific biosystemAxon guidance / axon pathfinding is the process by which neurons send out axons to reach the correct targets. Growing axons have a highly motile structure at the growing tip called the growth cone, w...
  • Developmental Biology, organism-specific biosystem (from REACTOME)
    Developmental Biology, organism-specific biosystemAs a first step towards capturing the array of processes by which a fertilized egg gives rise to the diverse tissues of the body, examples of three kinds of processes have been annotated. These are a...
  • Netrin-1 signaling, organism-specific biosystem (from REACTOME)
    Netrin-1 signaling, organism-specific biosystemNetrins are secreted proteins that play a crucial role in neuronal migration and in axon guidance during the development of the nervous system. To date, several Netrins have been described in mouse a...
  • Role of second messengers in netrin-1 signaling, organism-specific biosystem (from REACTOME)
    Role of second messengers in netrin-1 signaling, organism-specific biosystemThe levels of second messengers such as Ca+2, cAMP and cGMP may regulate the response of the growth cone to a particular cue. Netrin-1 as a guidance molecule depends on intracellular Ca+2 concentrati...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC99649

Gene Ontology Provided by GOA

Function Evidence Code Pubs
phosphatidylcholine binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
phosphatidylcholine binding IDA
Inferred from Direct Assay
more info
PubMed 
phosphatidylcholine transporter activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
phosphatidylcholine transporter activity IDA
Inferred from Direct Assay
more info
PubMed 
phosphatidylglycerol binding TAS
Traceable Author Statement
more info
PubMed 
phosphatidylinositol binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
phosphatidylinositol binding IDA
Inferred from Direct Assay
more info
PubMed 
phosphatidylinositol transporter activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
phosphatidylinositol transporter activity IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
axonogenesis IEA
Inferred from Electronic Annotation
more info
 
interleukin-12-mediated signaling pathway TAS
Traceable Author Statement
more info
 
lipid metabolic process NAS
Non-traceable Author Statement
more info
PubMed 
phospholipid transport IDA
Inferred from Direct Assay
more info
PubMed 
visual perception TAS
Traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytosol TAS
Traceable Author Statement
more info
 
extracellular exosome HDA PubMed 

General protein information

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)

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

  1. NG_013017.1 RefSeqGene

    Range
    5001..49828
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_006224.3NP_006215.1  phosphatidylinositol transfer protein alpha isoform

    See identical proteins and their annotated locations for NP_006215.1

    Status: REVIEWED

    Source sequence(s)
    AL542612, BC082976
    Consensus CDS
    CCDS45563.1
    UniProtKB/Swiss-Prot
    Q00169
    UniProtKB/TrEMBL
    V9HWC5
    Related
    ENSP00000316809.7, ENST00000313486.11
    Conserved Domains (1) summary
    cd08888
    Location:3259
    SRPBCC_PITPNA-B_like; Lipid-binding SRPBCC domain of mammalian PITPNA, -B, and related proteins (Class I PITPs)

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38.p12 Primary Assembly

    Range
    1517989..1562816 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011523939.1XP_011522241.1  phosphatidylinositol transfer protein alpha isoform isoform X1

    Conserved Domains (1) summary
    cd08888
    Location:3234
    SRPBCC_PITPNA-B_like; Lipid-binding SRPBCC domain of mammalian PITPNA, -B, and related proteins (Class I PITPs)
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