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PITPNA (phosphatidylinositol transfer protein alpha)

Identity

Alias_namesPITPN
phosphotidylinositol transfer protein
Alias_symbol (synonym)VIB1A
HGNC (Hugo) PITPNA
LocusID (NCBI) 5306
Atlas_Id 46916
Location 17p13.3  [Link to chromosome band 17p13]
Location_base_pair Starts at 1421283 and ends at 1466110 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
ABR (17p13.3) / PITPNA (17p13.3)FTX (Xq13.2) / PITPNA (17p13.3)PITPNA (17p13.3) / ACTB (7p22.1)
PITPNA (17p13.3) / PRPF8 (17p13.3)PITPNA (17p13.3) / SLC43A2 (17p13.3)PITPNA (17p13.3) / TRANK1 (3p22.2)
RPS24 (10q22.3) / PITPNA (17p13.3)YWHAE (17p13.3) / PITPNA (17p13.3)ABR 17p13.3 / PITPNA 17p13.3
PITPNA 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
AliasesHEL-S-36; PI-TPalpha; PITPN; VIB1A
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
Genetics Home Reference (NIH)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 GalleryENSG00000174238
Gene ExpressionPITPNA [ NCBI-GEO ]   PITPNA [ EBI - ARRAY_EXPRESS ]   PITPNA [ SEEK ]   PITPNA [ MEM ]
Gene Expression Viewer (FireBrowse)PITPNA [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)5306
GTEX Portal (Tissue expression)PITPNA
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ00169   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ00169  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ00169
Splice isoforms : SwissVarQ00169
PhosPhoSitePlusQ00169
Domains : Interpro (EBI)PI_transfer    START-like_dom   
Domain families : Pfam (Sanger)IP_trans (PF02121)   
Domain families : Pfam (NCBI)pfam02121   
Conserved Domain (NCBI)PITPNA
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   
SuperfamilyQ00169
Human Protein AtlasENSG00000174238
Peptide AtlasQ00169
HPRD02548
IPIIPI00216048   IPI01011252   IPI01012671   
Protein Interaction databases
DIP (DOE-UCLA)Q00169
IntAct (EBI)Q00169
FunCoupENSG00000174238
BioGRIDPITPNA
STRING (EMBL)PITPNA
ZODIACPITPNA
Ontologies - Pathways
QuickGOQ00169
Ontology : AmiGOcytoplasm  lipid metabolic process  visual perception  lipid binding  phosphatidylcholine transporter activity  phosphatidylinositol transporter activity  phospholipid transport  myelin sheath  extracellular exosome  
Ontology : EGO-EBIcytoplasm  lipid metabolic process  visual perception  lipid binding  phosphatidylcholine transporter activity  phosphatidylinositol transporter activity  phospholipid transport  myelin sheath  extracellular exosome  
NDEx NetworkPITPNA
Atlas of Cancer Signalling NetworkPITPNA
Wikipedia pathwaysPITPNA
Orthology - Evolution
OrthoDB5306
GeneTree (enSembl)ENSG00000174238
Phylogenetic Trees/Animal Genes : TreeFamPITPNA
HOVERGENQ00169
HOGENOMQ00169
Homologs : HomoloGenePITPNA
Homology/Alignments : Family Browser (UCSC)PITPNA
Gene fusions - Rearrangements
Fusion : MitelmanABR/PITPNA [17p13.3/17p13.3]  [t(17;17)(p13;p13)]  
Fusion : MitelmanPITPNA/PRPF8 [17p13.3/17p13.3]  [t(17;17)(p13;p13)]  
Fusion: TCGAABR 17p13.3 PITPNA 17p13.3 BRCA
Fusion: TCGAPITPNA 17p13.3 PRPF8 17p13.3 OV
Fusion Cancer (Beijing)RPS24 [10q22.3]  -  PITPNA [17p13.3]  [FUSC000763]
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerPITPNA [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)PITPNA
dbVarPITPNA
ClinVarPITPNA
1000_GenomesPITPNA 
Exome Variant ServerPITPNA
ExAC (Exome Aggregation Consortium)PITPNA (select the gene name)
Genetic variants : HAPMAP5306
Genomic Variants (DGV)PITPNA [DGVbeta]
DECIPHER (Syndromes)17:1421283-1466110  ENSG00000174238
CONAN: Copy Number AnalysisPITPNA 
Mutations
ICGC Data PortalPITPNA 
TCGA Data PortalPITPNA 
Broad Tumor PortalPITPNA
OASIS PortalPITPNA [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICPITPNA  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDPITPNA
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)
intoGenPITPNA
Cancer3DPITPNA(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM600174   
Orphanet
MedgenPITPNA
Genetic Testing Registry PITPNA
NextProtQ00169 [Medical]
TSGene5306
GENETestsPITPNA
Huge Navigator PITPNA [HugePedia]
snp3D : Map Gene to Disease5306
BioCentury BCIQPITPNA
ClinGenPITPNA (curated)
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD5306
Chemical/Pharm GKB GenePA33335
Clinical trialPITPNA
Miscellaneous
canSAR (ICR)PITPNA (select the gene name)
Probes
Litterature
PubMed27 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMinePITPNA
EVEXPITPNA
GoPubMedPITPNA
iHOPPITPNA
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Fri Nov 18 19:47:34 CET 2016

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