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Pitpna
Gene Detail
Symbol

Name
ID
Pitpna
phosphatidylinositol transfer protein, alpha
MGI:99887
Synonyms
Pitp alpha, PITPalpha, Pitpn
Feature Type
protein coding gene
Genetic Map
Chromosome 11
45.92 cM
Detailed Genetic Map ± 1 cM


Mapping data(17)
Sequence Map
Chr11:75588097-75628804 bp, + strand
From VEGA annotation of GRCm38

  40708 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:55958  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 western clawed frog; 1 zebrafish

HCOP human homology predictions: PITPNA
Protein SuperFamily: phosphatidylinositol transfer protein
Gene Tree: Pitpna

Human
homologs
PITPNA, phosphatidylinositol transfer protein, alpha
Orthology source: HGNC, HomoloGene

IDs:
NCBI Gene ID: 5306
neXtProt AC: NX_Q00169

Human Synonyms: HEL-S-36, PI-TPalpha, PITPN, VIB1A

Human Chr (Location): 17p13.3; chr17:1517989-1562816 (-)  GRCh38.p2

Mutations,
alleles, and
phenotypes
All mutations/alleles(566) : Gene trapped(561) Spontaneous(1) Targeted(4)
Genomic Mutations involving Pitpna (1)
Incidental mutations (data from Mutagenetix , APF )
 
Mutations of this gene result in motor coordination abnormalities and early death.
 
Human Diseases Modeled in Mice Using Pitpna (1)    Mutations Annotated to Human Diseases (2)   
Interactions
Pitpna interacts with 366 markers (Mir1b, Mir7-1, Mir7-2, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (14 annotations)
Process phospholipid transport, transport
Component cytoplasm, extracellular exosome, ...
Function fatty-acyl-CoA binding, lipid binding, ...
External Resources: FuncBase
Expression
cDNA source data(198)
Other mouse links: Allen Institute   GEO   Expression Atlas
Other vertebrate links: Xenbase pitpna ; ZFIN pitpnaa    NEW 
Molecular
reagents
All nucleic(203) Genomic(4) cDNA(199)
Microarray probesets(4)
Other database
links
VEGA Gene Model OTTMUSG00000006217 (Evidence)
Ensembl Gene Model ENSMUSG00000017781 (Evidence)
Entrez Gene 18738 (Evidence)
UniGene 3128
DFCI TC1572541, TC1607335
DoTS DT.534905, DT.97409924
NIA Mouse Gene Index U012955, U172968, U273484
PDB 1KCM
Consensus CDS Project CCDS25052.1
International Mouse Phenotyping Consortium Status Pitpna
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000006217 VEGA Gene Model | MGI Sequence Detail 40708 C57BL/6J ±  kb
transcript OTTMUST00000014037 VEGA | MGI Sequence Detail 3761 Not Applicable 
polypeptide OTTMUSP00000006520 VEGA | MGI Sequence Detail 271 Not Applicable 

For the selected sequences
All sequences(74) RefSeq(2) UniProt(8)
Polymorphisms
RFLP(1) : SNPs within 2kb(137 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR001666 Phosphatidylinositol transfer protein
InterPro IPR023393 START-like domain
Protein Ontology PR:000012753 phosphatidylinositol transfer protein alpha isoform
References
(Earliest) J:24779 Lane PW, Vibrator (vb). Mouse News Lett. 1965;32:47
(Latest) J:219914 Concepcion D, et al., Nxf1 Natural Variant E610G Is a Semi-dominant Suppressor of IAP-Induced RNA Processing Defects. PLoS Genet. 2015 Apr;11(4):e1005123
All references(61)
Disease annotation references (1)
Other
accession IDs
MGD-MRK-15382, MGD-MRK-16680, MGI:98924

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
08/25/2015
MGI 6.0
The Jackson Laboratory