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PITPNA (phosphatidylinositol transfer protein alpha)

Identity

Other namesHEL-S-36
PI-TPalpha
PITPN
VIB1A
HGNC (Hugo) PITPNA
LocusID (NCBI) 5306
Atlas_Id 46916
Location 17p13.3
Location_base_pair Starts at 1421283 and ends at 1466110 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2015)
ABR 17p13.3 / PITPNA 17p13.3PITPNA 17p13.3 / PRPF8 17p13.3

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
TCGA 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)NC_000017 NC_018928 NG_013017 NT_010718 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 : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
BioGPS (Tissue expression)5306
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ00169 (Uniprot)
NextProtQ00169  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ00169
Splice isoforms : SwissVarQ00169 (Swissvar)
PhosPhoSitePlusQ00169
Domains : Interpro (EBI)PI_transfer    START-like_dom   
Domain families : Pfam (Sanger)IP_trans (PF02121)   
Domain families : Pfam (NCBI)pfam02121   
DMDM Disease mutations5306
Blocks (Seattle)PITPNA
PDB (SRS)1UW5   
PDB (PDBSum)1UW5   
PDB (IMB)1UW5   
PDB (RSDB)1UW5   
Structural Biology KnowledgeBase1UW5   
SCOP (Structural Classification of Proteins)1UW5   
CATH (Classification of proteins structures)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
ZODIACPITPNA
Ontologies - Pathways
QuickGOQ00169
Ontology : AmiGOcytoplasm  lipid metabolic process  axon guidance  visual perception  lipid binding  phosphatidylcholine transporter activity  phosphatidylinositol transporter activity  phospholipid transport  myelin sheath  extracellular exosome  
Ontology : EGO-EBIcytoplasm  lipid metabolic process  axon guidance  visual perception  lipid binding  phosphatidylcholine transporter activity  phosphatidylinositol transporter activity  phospholipid transport  myelin sheath  extracellular exosome  
Protein Interaction DatabasePITPNA
Atlas of Cancer Signalling NetworkPITPNA
Wikipedia pathwaysPITPNA
Orthology - Evolution
OrthoDB5306
GeneTree (enSembl)ENSG00000174238
Phylogenetic Trees/Animal Genes : TreeFamPITPNA
Homologs : HomoloGenePITPNA
Homology/Alignments : Family Browser (UCSC)PITPNA
Gene fusions - Rearrangements
Fusion: TCGAABR 17p13.3 PITPNA 17p13.3 BRCA
Fusion: TCGAPITPNA 17p13.3 PRPF8 17p13.3 OV
Polymorphisms : SNP, variants
NCBI Variation ViewerPITPNA [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)PITPNA
dbVarPITPNA
ClinVarPITPNA
1000_GenomesPITPNA 
Exome Variant ServerPITPNA
Exome Aggregation Consortium (ExAC)ENSG00000174238
SNP (GeneSNP Utah)PITPNA
SNP : HGBasePITPNA
Genetic variants : HAPMAPPITPNA
Genomic Variants (DGV)PITPNA [DGVbeta]
Mutations
ICGC Data PortalPITPNA 
TCGA Data PortalPITPNA 
Tumor PortalPITPNA
TCGA Copy Number PortalPITPNA
Somatic Mutations in Cancer : COSMICPITPNA 
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
BioMutasearch PITPNA
DgiDB (Drug Gene Interaction Database)PITPNA
DoCM (Curated mutations)PITPNA (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)PITPNA (select a term)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] 
Diseases
DECIPHER (Syndromes)17:1421283-1466110
CONAN: Copy Number AnalysisPITPNA 
Mutations and Diseases : HGMDPITPNA
OMIM600174   
MedgenPITPNA
NextProtQ00169 [Medical]
TSGene5306
GENETestsPITPNA
Huge Navigator PITPNA [HugePedia]  PITPNA [HugeCancerGEM]
snp3D : Map Gene to Disease5306
BioCentury BCIQPITPNA
General knowledge
Chemical/Protein Interactions : CTD5306
Chemical/Pharm GKB GenePA33335
Clinical trialPITPNA
Other databases
Probes
Litterature
PubMed26 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMinePITPNA
GoPubMedPITPNA
iHOPPITPNA
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Sat Jan 16 19:15:20 CET 2016

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