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PITPNA (phosphatidylinositol transfer protein, alpha)

Identity

Other namesHEL-S-36
PI-TPalpha
PITPN
VIB1A
HGNC (Hugo) PITPNA
LocusID (NCBI) 5306
Location 17p13.3
Location_base_pair Starts at 1421283 and ends at 1466110 bp from pter ( according to hg19-Feb_2009)
Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 

External links

Nomenclature
HGNC (Hugo)PITPNA   9001
Cards
Entrez_Gene (NCBI)PITPNA  5306  phosphatidylinositol transfer protein, alpha
GeneCards (Weizmann)PITPNA
Ensembl hg19 (Hinxton)ENSG00000174238 [Gene_View]  chr17:1421283-1466110 [Contig_View]  PITPNA [Vega]
Ensembl hg38 (Hinxton)ENSG00000174238 [Gene_View]  chr17:1421283-1466110 [Contig_View]  PITPNA [Vega]
ICGC DataPortalENSG00000174238
cBioPortalPITPNA
AceView (NCBI)PITPNA
Genatlas (Paris)PITPNA
WikiGenes5306
SOURCE (Princeton)PITPNA
Genomic and cartography
GoldenPath hg19 (UCSC)PITPNA  -     chr17:1421283-1466110 -  17p13.3   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)PITPNA  -     17p13.3   [Description]    (hg38-Dec_2013)
EnsemblPITPNA - 17p13.3 [CytoView hg19]  PITPNA - 17p13.3 [CytoView hg38]
Mapping of homologs : NCBIPITPNA [Mapview hg19]  PITPNA [Mapview hg38]
OMIM600174   
Gene and transcription
Genbank (Entrez)AK303986 AL117644 AL542612 BC027177 BC045108
RefSeq transcript (Entrez)NM_006224
RefSeq genomic (Entrez)AC_000149 NC_000017 NC_018928 NG_013017 NT_010718 NW_001838403 NW_004929405
Consensus coding sequences : CCDS (NCBI)PITPNA
Cluster EST : UnigeneHs.429819 [ NCBI ]
CGAP (NCI)Hs.429819
Alternative Splicing : Fast-db (Paris)GSHG0012959
Alternative Splicing GalleryENSG00000174238
Gene ExpressionPITPNA [ NCBI-GEO ]     PITPNA [ SEEK ]   PITPNA [ MEM ]
SOURCE (Princeton)Expression in : [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ00169 (Uniprot)
NextProtQ00169  [Medical]
With graphics : InterProQ00169
Splice isoforms : SwissVarQ00169 (Swissvar)
Domains : Interpro (EBI)PI_transfer    START-like_dom   
Related proteins : CluSTrQ00169
Domain families : Pfam (Sanger)IP_trans (PF02121)   
Domain families : Pfam (NCBI)pfam02121   
DMDM Disease mutations5306
Blocks (Seattle)Q00169
PDB (SRS)1UW5   
PDB (PDBSum)1UW5   
PDB (IMB)1UW5   
PDB (RSDB)1UW5   
Human Protein AtlasENSG00000174238
Peptide AtlasQ00169
HPRD02548
IPIIPI00216048   IPI01011252   IPI01012671   
Protein Interaction databases
DIP (DOE-UCLA)Q00169
IntAct (EBI)Q00169
FunCoupENSG00000174238
BioGRIDPITPNA
IntegromeDBPITPNA
STRING (EMBL)PITPNA
Ontologies - Pathways
QuickGOQ00169
Ontology : AmiGOcytoplasm  lipid metabolic process  axon guidance  visual perception  lipid binding  phosphatidylcholine transporter activity  phosphatidylinositol transporter activity  phospholipid transport  extracellular vesicular exosome  
Ontology : EGO-EBIcytoplasm  lipid metabolic process  axon guidance  visual perception  lipid binding  phosphatidylcholine transporter activity  phosphatidylinositol transporter activity  phospholipid transport  extracellular vesicular exosome  
Protein Interaction DatabasePITPNA
DoCM (Curated mutations)PITPNA
Wikipedia pathwaysPITPNA
Gene fusion - rearrangements
Polymorphisms : SNP, variants
NCBI Variation ViewerPITPNA [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)PITPNA
dbVarPITPNA
ClinVarPITPNA
1000_GenomesPITPNA 
Exome Variant ServerPITPNA
SNP (GeneSNP Utah)PITPNA
SNP : HGBasePITPNA
Genetic variants : HAPMAPPITPNA
Genomic VariantsPITPNA  PITPNA [DGVbeta]
Mutations
ICGC Data PortalENSG00000174238 
Somatic Mutations in Cancer : COSMICPITPNA 
CONAN: Copy Number AnalysisPITPNA 
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] 
Diseases
DECIPHER (Syndromes)17:1421283-1466110
Mutations and Diseases : HGMDPITPNA
OMIM600174   
MedgenPITPNA
NextProtQ00169 [Medical]
GENETestsPITPNA
Disease Genetic AssociationPITPNA
Huge Navigator PITPNA [HugePedia]  PITPNA [HugeCancerGEM]
snp3D : Map Gene to Disease5306
DGIdb (Drug Gene Interaction db)PITPNA
General knowledge
Homologs : HomoloGenePITPNA
Homology/Alignments : Family Browser (UCSC)PITPNA
Phylogenetic Trees/Animal Genes : TreeFamPITPNA
Chemical/Protein Interactions : CTD5306
Chemical/Pharm GKB GenePA33335
Clinical trialPITPNA
Cancer Resource (Charite)ENSG00000174238
Other databases
Probes
Litterature
PubMed27 Pubmed reference(s) in Entrez
CoreMinePITPNA
GoPubMedPITPNA
iHOPPITPNA
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

Contributor(s)

Written09-2002Dessen P, Le Minor S
Updated12-2014Dessen P

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Sun Dec 21 00:50:16 CET 2014

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