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PITPNM1 (phosphatidylinositol transfer protein membrane associated 1)

Identity

Alias (NCBI)DRES9
NIR2
PITPNM
RDGB
RDGB1
RDGBA
RDGBA1
Rd9
HGNC (Hugo) PITPNM1
HGNC Alias symbDRES9
NIR2
RDGB1
RDGBA1
Rd9
RDGB
HGNC Alias namePYK2 N-terminal domain-interacting receptor 2
 retinal degeneration B alpha 1
HGNC Previous namePITPNM
HGNC Previous namephosphatidylinositol transfer protein, membrane associated 1
LocusID (NCBI) 9600
Atlas_Id 46996
Location 11q13.2  [Link to chromosome band 11q13]
Location_base_pair Starts at 67491768 and ends at 67505363 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
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    phosphatidylinositol transfer protein membrane associated 1
AliasesDRES9; NIR2; PITPNM; RDGB; 
RDGB1; RDGBA; RDGBA1; Rd9
GeneCards (Weizmann)PITPNM1
Ensembl hg19 (Hinxton)ENSG00000110697 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000110697 [Gene_View]  ENSG00000110697 [Sequence]  chr11:67491768-67505363 [Contig_View]  PITPNM1 [Vega]
ICGC DataPortalENSG00000110697
TCGA cBioPortalPITPNM1
AceView (NCBI)PITPNM1
Genatlas (Paris)PITPNM1
SOURCE (Princeton)PITPNM1
Genetics Home Reference (NIH)PITPNM1
Genomic and cartography
GoldenPath hg38 (UCSC)PITPNM1  -     chr11:67491768-67505363 -  11q13.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)PITPNM1  -     11q13.2   [Description]    (hg19-Feb_2009)
GoldenPathPITPNM1 - 11q13.2 [CytoView hg19]  PITPNM1 - 11q13.2 [CytoView hg38]
ImmunoBaseENSG00000110697
Genome Data Viewer NCBIPITPNM1 [Mapview hg19]  
OMIM608794   
Gene and transcription
Genbank (Entrez)AA465501 AF334584 AK126944 AK312886 AY429102
RefSeq transcript (Entrez)NM_001130848 NM_004910
Consensus coding sequences : CCDS (NCBI)PITPNM1
Gene ExpressionPITPNM1 [ NCBI-GEO ]   PITPNM1 [ EBI - ARRAY_EXPRESS ]   PITPNM1 [ SEEK ]   PITPNM1 [ MEM ]
Gene Expression Viewer (FireBrowse)PITPNM1 [ Firebrowse - Broad ]
GenevisibleExpression of PITPNM1 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)9600
GTEX Portal (Tissue expression)PITPNM1
Human Protein AtlasENSG00000110697-PITPNM1 [pathology]   [cell]   [tissue]
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
PhosPhoSitePlusO00562
Domaine pattern : Prosite (Expaxy)DDHD (PS51043)   
Domains : Interpro (EBI)DDHD_dom    HAD-like_sf    LNS2/PITP    PI_transfer    START-like_dom_sf   
Domain families : Pfam (Sanger)DDHD (PF02862)    IP_trans (PF02121)   
Domain families : Pfam (NCBI)pfam02862    pfam02121   
Domain families : Smart (EMBL)DDHD (SM01127)  LNS2 (SM00775)  
Conserved Domain (NCBI)PITPNM1
SuperfamilyO00562
AlphaFold pdb e-kbO00562   
Human Protein Atlas [tissue]ENSG00000110697-PITPNM1 [tissue]
HPRD07497
Protein Interaction databases
DIP (DOE-UCLA)O00562
IntAct (EBI)O00562
BioGRIDPITPNM1
STRING (EMBL)PITPNM1
ZODIACPITPNM1
Ontologies - Pathways
QuickGOO00562
Ontology : AmiGOcalcium ion binding  protein binding  cytoplasm  endoplasmic reticulum membrane  lipid droplet  cytosol  cytosol  lipid metabolic process  phosphatidylinositol biosynthetic process  brain development  phototransduction  phosphatidylcholine transporter activity  phosphatidylinositol transfer activity  phosphatidylinositol transfer activity  protein transport  phospholipid transport  membrane  midbody  receptor tyrosine kinase binding  phosphatidylcholine binding  phosphatidylcholine binding  cleavage furrow  Golgi cisterna membrane  phosphatidylinositol binding  phosphatidylinositol binding  intracellular membrane-bounded organelle  cell body  phosphatidic acid binding  intermembrane lipid transfer  
Ontology : EGO-EBIcalcium ion binding  protein binding  cytoplasm  endoplasmic reticulum membrane  lipid droplet  cytosol  cytosol  lipid metabolic process  phosphatidylinositol biosynthetic process  brain development  phototransduction  phosphatidylcholine transporter activity  phosphatidylinositol transfer activity  phosphatidylinositol transfer activity  protein transport  phospholipid transport  membrane  midbody  receptor tyrosine kinase binding  phosphatidylcholine binding  phosphatidylcholine binding  cleavage furrow  Golgi cisterna membrane  phosphatidylinositol binding  phosphatidylinositol binding  intracellular membrane-bounded organelle  cell body  phosphatidic acid binding  intermembrane lipid transfer  
NDEx NetworkPITPNM1
Atlas of Cancer Signalling NetworkPITPNM1
Wikipedia pathwaysPITPNM1
Orthology - Evolution
OrthoDB9600
GeneTree (enSembl)ENSG00000110697
Phylogenetic Trees/Animal Genes : TreeFamPITPNM1
Homologs : HomoloGenePITPNM1
Homology/Alignments : Family Browser (UCSC)PITPNM1
Gene fusions - Rearrangements
Fusion : MitelmanNUMA1/PITPNM1 [11q13.4/11q13.2]  
Fusion : MitelmanPITPNM1/CABP2 [11q13.2/11q13.2]  
Fusion : QuiverPITPNM1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerPITPNM1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)PITPNM1
dbVarPITPNM1
ClinVarPITPNM1
MonarchPITPNM1
1000_GenomesPITPNM1 
Exome Variant ServerPITPNM1
GNOMAD BrowserENSG00000110697
Varsome BrowserPITPNM1
ACMGPITPNM1 variants
VarityO00562
Genomic Variants (DGV)PITPNM1 [DGVbeta]
DECIPHERPITPNM1 [patients]   [syndromes]   [variants]   [genes]  
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]  
Somatic Mutations in Cancer : COSMIC3DPITPNM1
Mutations and Diseases : HGMDPITPNM1
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
BioMutaPITPNM1
DgiDB (Drug Gene Interaction Database)PITPNM1
DoCM (Curated mutations)PITPNM1
CIViC (Clinical Interpretations of Variants in Cancer)PITPNM1
Cancer3DPITPNM1
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM608794   
Orphanet
DisGeNETPITPNM1
MedgenPITPNM1
Genetic Testing Registry PITPNM1
NextProtO00562 [Medical]
GENETestsPITPNM1
Target ValidationPITPNM1
Huge Navigator PITPNM1 [HugePedia]
ClinGenPITPNM1
Clinical trials, drugs, therapy
MyCancerGenomePITPNM1
Protein Interactions : CTDPITPNM1
Pharm GKB GenePA33337
PharosO00562
Clinical trialPITPNM1
Miscellaneous
canSAR (ICR)PITPNM1
HarmonizomePITPNM1
DataMed IndexPITPNM1
Probes
Litterature
PubMed33 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXPITPNM1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

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indexed on : Mon Oct 4 15:25:26 CEST 2021

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