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PITPNC1 (phosphatidylinositol transfer protein cytoplasmic 1)

Identity

Alias (NCBI)M-RDGB-beta
MRDGBbeta
RDGB-BETA
RDGBB
RDGBB1
HGNC (Hugo) PITPNC1
HGNC Alias symbRDGBB1
RDGBB
RDGB-BETA
HGNC Previous namephosphatidylinositol transfer protein, cytoplasmic 1
LocusID (NCBI) 26207
Atlas_Id 46665
Location 17q24.2  [Link to chromosome band 17q24]
Location_base_pair Starts at 67377281 and ends at 67697256 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)
BPTF (17q24.2) / PITPNC1 (17q24.2)CDC5L (6p21.1) / PITPNC1 (17q24.2)COLEC11 (2p25.3) / PITPNC1 (17q24.2)
DDX42 (17q23.3) / PITPNC1 (17q24.2)FNDC3B (3q26.31) / PITPNC1 (17q24.2)FOXK2 (17q25.3) / PITPNC1 (17q24.2)
HELZ (17q24.2) / PITPNC1 (17q24.2)KCNK2 (1q41) / PITPNC1 (17q24.2)LAMB1 (7q31.1) / PITPNC1 (17q24.2)
PIGU (20q11.22) / PITPNC1 (17q24.2)PITPNC1 (17q24.2) / EYA2 (20q13.12)PITPNC1 (17q24.2) / MARCH10 (17q23.2)
PITPNC1 (17q24.2) / MBTD1 (17q21.33)PITPNC1 (17q24.2) / PITPNC1 (17q24.2)PITPNC1 (17q24.2) / PRKCA (17q24.2)
PITPNC1 (17q24.2) / ZMIZ1 (10q22.3)POLN (4p16.3) / PITPNC1 (17q24.2)PRKCA (17q24.2) / PITPNC1 (17q24.2)
PSMD12 (17q24.2) / PITPNC1 (17q24.2)SLC39A11 (17q24.3) / PITPNC1 (17q24.2)BPTF 17q24.2 / PITPNC1 17q24.2
CDC5L 6p21.1 / PITPNC1 17q24.2FOXK2 17q25.3 / PITPNC1 17q24.2HELZ 17q24.2 / PITPNC1 17q24.2
PIGU 20q11.22 / PITPNC1 17q24.2PITPNC1 17q24.2 / MARCH10 17q23.2PITPNC1 17q24.2 / MBTD1 17q21.33
PRKCA 17q24.2 / PITPNC1 17q24.2PSMD12 17q24.2 / PITPNC1 17q24.2SLC39A11 17q24.3 / PITPNC1 17q24.2

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)PITPNC1   21045
Cards
Entrez_Gene (NCBI)PITPNC1    phosphatidylinositol transfer protein cytoplasmic 1
AliasesM-RDGB-beta; MRDGBbeta; RDGB-BETA; RDGBB; 
RDGBB1
GeneCards (Weizmann)PITPNC1
Ensembl hg19 (Hinxton)ENSG00000154217 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000154217 [Gene_View]  ENSG00000154217 [Sequence]  chr17:67377281-67697256 [Contig_View]  PITPNC1 [Vega]
ICGC DataPortalENSG00000154217
TCGA cBioPortalPITPNC1
AceView (NCBI)PITPNC1
Genatlas (Paris)PITPNC1
SOURCE (Princeton)PITPNC1
Genetics Home Reference (NIH)PITPNC1
Genomic and cartography
GoldenPath hg38 (UCSC)PITPNC1  -     chr17:67377281-67697256 +  17q24.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)PITPNC1  -     17q24.2   [Description]    (hg19-Feb_2009)
GoldenPathPITPNC1 - 17q24.2 [CytoView hg19]  PITPNC1 - 17q24.2 [CytoView hg38]
ImmunoBaseENSG00000154217
Genome Data Viewer NCBIPITPNC1 [Mapview hg19]  
OMIM605134   
Gene and transcription
Genbank (Entrez)AF171102 AI126821 AK094724 AK290838 AK307138
RefSeq transcript (Entrez)NM_012417 NM_181671
Consensus coding sequences : CCDS (NCBI)PITPNC1
Gene ExpressionPITPNC1 [ NCBI-GEO ]   PITPNC1 [ EBI - ARRAY_EXPRESS ]   PITPNC1 [ SEEK ]   PITPNC1 [ MEM ]
Gene Expression Viewer (FireBrowse)PITPNC1 [ Firebrowse - Broad ]
GenevisibleExpression of PITPNC1 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)26207
GTEX Portal (Tissue expression)PITPNC1
Human Protein AtlasENSG00000154217-PITPNC1 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9UKF7   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9UKF7  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9UKF7
PhosPhoSitePlusQ9UKF7
Domains : Interpro (EBI)PI_transfer    START-like_dom_sf   
Domain families : Pfam (Sanger)IP_trans (PF02121)   
Domain families : Pfam (NCBI)pfam02121   
Conserved Domain (NCBI)PITPNC1
SuperfamilyQ9UKF7
AlphaFold pdb e-kbQ9UKF7   
Human Protein Atlas [tissue]ENSG00000154217-PITPNC1 [tissue]
HPRD05504
Protein Interaction databases
DIP (DOE-UCLA)Q9UKF7
IntAct (EBI)Q9UKF7
BioGRIDPITPNC1
STRING (EMBL)PITPNC1
ZODIACPITPNC1
Ontologies - Pathways
QuickGOQ9UKF7
Ontology : AmiGOprotein binding  nucleoplasm  cytoplasm  cytoplasm  cytosol  signal transduction  phosphatidylcholine transporter activity  phosphatidylinositol transfer activity  phosphatidylinositol transfer activity  phosphatidylinositol transfer activity  phospholipid transport  phosphatidylinositol binding  phosphatidylinositol binding  phosphatidic acid binding  intermembrane lipid transfer  phosphatidylglycerol binding  phosphatidic acid transfer activity  
Ontology : EGO-EBIprotein binding  nucleoplasm  cytoplasm  cytoplasm  cytosol  signal transduction  phosphatidylcholine transporter activity  phosphatidylinositol transfer activity  phosphatidylinositol transfer activity  phosphatidylinositol transfer activity  phospholipid transport  phosphatidylinositol binding  phosphatidylinositol binding  phosphatidic acid binding  intermembrane lipid transfer  phosphatidylglycerol binding  phosphatidic acid transfer activity  
NDEx NetworkPITPNC1
Atlas of Cancer Signalling NetworkPITPNC1
Wikipedia pathwaysPITPNC1
Orthology - Evolution
OrthoDB26207
GeneTree (enSembl)ENSG00000154217
Phylogenetic Trees/Animal Genes : TreeFamPITPNC1
Homologs : HomoloGenePITPNC1
Homology/Alignments : Family Browser (UCSC)PITPNC1
Gene fusions - Rearrangements
Fusion : MitelmanBPTF/PITPNC1 [17q24.2/17q24.2]  
Fusion : MitelmanCDC5L/PITPNC1 [6p21.1/17q24.2]  
Fusion : MitelmanFOXK2/PITPNC1 [17q25.3/17q24.2]  
Fusion : MitelmanHELZ/PITPNC1 [17q24.2/17q24.2]  
Fusion : MitelmanPIGU/PITPNC1 [20q11.22/17q24.2]  
Fusion : MitelmanPITPNC1/MARCH10 [17q24.2/17q23.2]  
Fusion : MitelmanPITPNC1/MBTD1 [17q24.2/17q21.33]  
Fusion : MitelmanPRKCA/PITPNC1 [17q24.2/17q24.2]  
Fusion : MitelmanPSMD12/PITPNC1 [17q24.2/17q24.2]  
Fusion : MitelmanSLC39A11/PITPNC1 [17q24.3/17q24.2]  
Fusion : QuiverPITPNC1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerPITPNC1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)PITPNC1
dbVarPITPNC1
ClinVarPITPNC1
MonarchPITPNC1
1000_GenomesPITPNC1 
Exome Variant ServerPITPNC1
GNOMAD BrowserENSG00000154217
Varsome BrowserPITPNC1
ACMGPITPNC1 variants
VarityQ9UKF7
Genomic Variants (DGV)PITPNC1 [DGVbeta]
DECIPHERPITPNC1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisPITPNC1 
Mutations
ICGC Data PortalPITPNC1 
TCGA Data PortalPITPNC1 
Broad Tumor PortalPITPNC1
OASIS PortalPITPNC1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICPITPNC1  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DPITPNC1
Mutations and Diseases : HGMDPITPNC1
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
BioMutaPITPNC1
DgiDB (Drug Gene Interaction Database)PITPNC1
DoCM (Curated mutations)PITPNC1
CIViC (Clinical Interpretations of Variants in Cancer)PITPNC1
Cancer3DPITPNC1
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM605134   
Orphanet
DisGeNETPITPNC1
MedgenPITPNC1
Genetic Testing Registry PITPNC1
NextProtQ9UKF7 [Medical]
GENETestsPITPNC1
Target ValidationPITPNC1
Huge Navigator PITPNC1 [HugePedia]
ClinGenPITPNC1
Clinical trials, drugs, therapy
MyCancerGenomePITPNC1
Protein Interactions : CTDPITPNC1
Pharm GKB GenePA128394642
PharosQ9UKF7
Clinical trialPITPNC1
Miscellaneous
canSAR (ICR)PITPNC1
HarmonizomePITPNC1
DataMed IndexPITPNC1
Probes
Litterature
PubMed21 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXPITPNC1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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

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