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

Gene ID: 5306, updated on 12-May-2016
Official Symbol
PITPNAprovided by HGNC
Official Full Name
phosphatidylinositol transfer protein alphaprovided by HGNC
Primary source
HGNC:HGNC:9001
See related
Ensembl:ENSG00000174238 HPRD:02548; MIM:600174; Vega:OTTHUMG00000177779
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]
Orthologs
Location:
17p13.3
Exon count:
13
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 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 uncharacterized LOC105371484 Neighboring gene scavenger receptor class F member 1

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

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
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  • Developmental Biology, organism-specific biosystem (from REACTOME)
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  • EGFR1 Signaling Pathway, organism-specific biosystem (from WikiPathways)
    EGFR1 Signaling Pathway, organism-specific biosystemThe androgen receptor is a member of the nuclear receptor family of ligand activated transcription factors. These receptors bind to steroid hormones, thyroid hormone, retinoids and vitamin D among ot...
  • 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...
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • MGC99649

Gene Ontology Provided by GOA

Function Evidence Code Pubs
lipid binding IEA
Inferred from Electronic Annotation
more info
 
phosphatidylcholine transporter activity TAS
Traceable Author Statement
more info
PubMed 
phosphatidylinositol transporter activity TAS
Traceable Author Statement
more info
PubMed 
Process Evidence Code Pubs
lipid metabolic process NAS
Non-traceable Author Statement
more info
PubMed 
phospholipid transport IEA
Inferred from Electronic Annotation
more info
 
visual perception TAS
Traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
cytoplasm IEA
Inferred from Electronic Annotation
more info
 
extracellular exosome IDA
Inferred from Direct Assay
more info
PubMed 
myelin sheath IEA
Inferred from Electronic Annotation
more info
 
Preferred Names
phosphatidylinositol transfer protein alpha isoform
Names
PI-TP-alpha
epididymis secretory protein Li 36
phosphatidylinositol transfer protein, alpha
ptdIns transfer protein alpha
ptdInsTP alpha

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, OTTHUMP00000257650, ENST00000313486, OTTHUMT00000438927
    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 107 details...

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

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38.p2 Primary Assembly

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

mRNA and Protein(s)

  1. XM_011523939.1XP_011522241.1  

    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)
  2. XM_011523940.1XP_011522242.1  

    See identical proteins and their annotated locations for XP_011522242.1

    UniProtKB/TrEMBL
    B4E1U1
    Conserved Domains (1) summary
    cl14643
    Location:1186
    SRPBCC; START/RHO_alpha_C/PITP/Bet_v1/CoxG/CalC (SRPBCC) ligand-binding domain superfamily

Alternate CHM1_1.1

Genomic

  1. NC_018928.2 Alternate CHM1_1.1

    Range
    1429972..1474726 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)