Atlas of Genetics and Cytogenetics in Oncology and Haematology


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PITPNM1 (phosphatidylinositol transfer protein membrane associated 1)

Identity

Alias_namesPITPNM
phosphatidylinositol transfer protein
Alias_symbol (synonym)DRES9
NIR2
RDGB1
RDGBA1
Rd9
RDGB
Other aliasRDGBA
HGNC (Hugo) PITPNM1
LocusID (NCBI) 9600
Atlas_Id 46996
Location 11q13.2  [Link to chromosome band 11q13]
Location_base_pair Starts at 67259239 and ends at 67272843 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
NUMA1 (11q13.4) / PITPNM1 (11q13.2)PITPNM1 (11q13.2) / CABP2 (11q13.2)PITPNM1 (11q13.2) / LOC100128338 ()
PITPNM1 (11q13.2) / TFAP2A (6p24.3)NUMA1 11q13.4 / PITPNM1 11q13.2PITPNM1 11q13.2 / CABP2 11q13.2

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)PITPNM1   9003
Cards
Entrez_Gene (NCBI)PITPNM1  9600  phosphatidylinositol transfer protein membrane associated 1
AliasesDRES9; NIR2; PITPNM; RDGB; 
RDGB1; RDGBA; RDGBA1; Rd9
GeneCards (Weizmann)PITPNM1
Ensembl hg19 (Hinxton)ENSG00000110697 [Gene_View]  chr11:67259239-67272843 [Contig_View]  PITPNM1 [Vega]
Ensembl hg38 (Hinxton)ENSG00000110697 [Gene_View]  chr11:67259239-67272843 [Contig_View]  PITPNM1 [Vega]
ICGC DataPortalENSG00000110697
TCGA cBioPortalPITPNM1
AceView (NCBI)PITPNM1
Genatlas (Paris)PITPNM1
WikiGenes9600
SOURCE (Princeton)PITPNM1
Genetics Home Reference (NIH)PITPNM1
Genomic and cartography
GoldenPath hg19 (UCSC)PITPNM1  -     chr11:67259239-67272843 -  11q13.2   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)PITPNM1  -     11q13.2   [Description]    (hg38-Dec_2013)
EnsemblPITPNM1 - 11q13.2 [CytoView hg19]  PITPNM1 - 11q13.2 [CytoView hg38]
Mapping of homologs : NCBIPITPNM1 [Mapview hg19]  PITPNM1 [Mapview hg38]
OMIM608794   
Gene and transcription
Genbank (Entrez)AA465501 AF334584 AK126944 AK312886 AY429102
RefSeq transcript (Entrez)NM_001130848 NM_004910
RefSeq genomic (Entrez)NC_000011 NC_018922 NT_167190 NW_004929380
Consensus coding sequences : CCDS (NCBI)PITPNM1
Cluster EST : UnigeneHs.372295 [ NCBI ]
CGAP (NCI)Hs.372295
Alternative Splicing GalleryENSG00000110697
Gene ExpressionPITPNM1 [ NCBI-GEO ]   PITPNM1 [ EBI - ARRAY_EXPRESS ]   PITPNM1 [ SEEK ]   PITPNM1 [ MEM ]
Gene Expression Viewer (FireBrowse)PITPNM1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)9600
GTEX Portal (Tissue expression)PITPNM1
Protein : pattern, domain, 3D structure
UniProt/SwissProtO00562   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtO00562  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProO00562
Splice isoforms : SwissVarO00562
PhosPhoSitePlusO00562
Domaine pattern : Prosite (Expaxy)DDHD (PS51043)   
Domains : Interpro (EBI)DDHD_dom    HAD-like_dom    LNS2/PITP    PI_transfer    START-like_dom   
Domain families : Pfam (Sanger)DDHD (PF02862)    IP_trans (PF02121)   
Domain families : Pfam (NCBI)pfam02862    pfam02121   
Domain families : Smart (EMBL)LNS2 (SM00775)  
Conserved Domain (NCBI)PITPNM1
DMDM Disease mutations9600
Blocks (Seattle)PITPNM1
SuperfamilyO00562
Human Protein AtlasENSG00000110697
Peptide AtlasO00562
HPRD07497
IPIIPI00307758   IPI00791675   IPI00979391   IPI00978709   IPI00983653   IPI00976564   
Protein Interaction databases
DIP (DOE-UCLA)O00562
IntAct (EBI)O00562
FunCoupENSG00000110697
BioGRIDPITPNM1
STRING (EMBL)PITPNM1
ZODIACPITPNM1
Ontologies - Pathways
QuickGOO00562
Ontology : AmiGOprotein binding  cytoplasm  endoplasmic reticulum membrane  lipid particle  lipid metabolic process  brain development  phototransduction  phosphatidylinositol transporter activity  protein transport  phospholipid transport  membrane  midbody  cleavage furrow  Golgi cisterna membrane  metal ion binding  
Ontology : EGO-EBIprotein binding  cytoplasm  endoplasmic reticulum membrane  lipid particle  lipid metabolic process  brain development  phototransduction  phosphatidylinositol transporter activity  protein transport  phospholipid transport  membrane  midbody  cleavage furrow  Golgi cisterna membrane  metal ion binding  
NDEx NetworkPITPNM1
Atlas of Cancer Signalling NetworkPITPNM1
Wikipedia pathwaysPITPNM1
Orthology - Evolution
OrthoDB9600
GeneTree (enSembl)ENSG00000110697
Phylogenetic Trees/Animal Genes : TreeFamPITPNM1
HOVERGENO00562
HOGENOMO00562
Homologs : HomoloGenePITPNM1
Homology/Alignments : Family Browser (UCSC)PITPNM1
Gene fusions - Rearrangements
Fusion : MitelmanNUMA1/PITPNM1 [11q13.4/11q13.2]  [t(11;11)(q13;q13)]  
Fusion : MitelmanPITPNM1/CABP2 [11q13.2/11q13.2]  [t(11;11)(q13;q13)]  
Fusion: TCGANUMA1 11q13.4 PITPNM1 11q13.2 BRCA
Fusion: TCGAPITPNM1 11q13.2 CABP2 11q13.2 BRCA
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerPITPNM1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)PITPNM1
dbVarPITPNM1
ClinVarPITPNM1
1000_GenomesPITPNM1 
Exome Variant ServerPITPNM1
ExAC (Exome Aggregation Consortium)PITPNM1 (select the gene name)
Genetic variants : HAPMAP9600
Genomic Variants (DGV)PITPNM1 [DGVbeta]
DECIPHER (Syndromes)11:67259239-67272843  ENSG00000110697
CONAN: Copy Number AnalysisPITPNM1 
Mutations
ICGC Data PortalPITPNM1 
TCGA Data PortalPITPNM1 
Broad Tumor PortalPITPNM1
OASIS PortalPITPNM1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICPITPNM1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDPITPNM1
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 PITPNM1
DgiDB (Drug Gene Interaction Database)PITPNM1
DoCM (Curated mutations)PITPNM1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)PITPNM1 (select a term)
intoGenPITPNM1
Cancer3DPITPNM1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM608794   
Orphanet
MedgenPITPNM1
Genetic Testing Registry PITPNM1
NextProtO00562 [Medical]
TSGene9600
GENETestsPITPNM1
Huge Navigator PITPNM1 [HugePedia]
snp3D : Map Gene to Disease9600
BioCentury BCIQPITPNM1
ClinGenPITPNM1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD9600
Chemical/Pharm GKB GenePA33337
Clinical trialPITPNM1
Miscellaneous
canSAR (ICR)PITPNM1 (select the gene name)
Probes
Litterature
PubMed26 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMinePITPNM1
EVEXPITPNM1
GoPubMedPITPNM1
iHOPPITPNM1
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 : Tue Mar 14 13:21:31 CET 2017

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