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FLASH GENE
Symbol PITPNC1 contributors: mct - updated : 23-12-2016
HGNC name phosphatidylinositol transfer protein, cytoplasmic 1
HGNC id 21045
Location 17q24.2      Physical location : 65.373.923 - 65.689.645
Synonym name
  • retinal degeneration type B beta
  • Synonym symbol(s) RDGBB1, RDGBB, RDGB-BETA, M-RDGB-beta, MRDGBbeta
    DNA
    TYPE functioning gene
    STRUCTURE 319.98 kb     9 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status provisional
    Physical map
    LOC388411 17 similar to Importin alpha-2 subunit (Karyopherin alpha-2 subunit) (SRP1-alpha) (RAG cohort protein 1) LOC390807 17 hypothetical gene supported by AK097700 MGC40489 17q24 hypothetical protein MGC40489 LOC388412 17 LOC388412 KIAA0563 17q24.2 LOC388412 LOC390808 17 similar to solute carrier family 16, member 6; monocarboxylate transporter 6 LOC284020 17q24.2 similar to solute carrier family 16, member 6; monocarboxylate transporter 6 FLJ32065 17q24.2 hypothetical protein FLJ32065 GNA13 17q24 guanine nucleotide binding protein (G protein), alpha 13 RGS9 17q24 regulator of G-protein signalling 9 AXIN2 17q23-q24 axin 2 (conductin, axil) MGC33887 17q24.2 hypothetical protein MGC33887 LOC280637 17q24.2 proteasome 26S non-ATPase subunit 7 pseudogene APOH 17q23.2 apolipoprotein H (beta-2-glycoprotein I) PRKCA 17q22-q23.2 protein kinase C, alpha CACNG5 17q24 calcium channel, voltage-dependent, gamma subunit 5 CACNG4 17q24 calcium channel, voltage-dependent, gamma subunit 4 CACNG1 17q24 calcium channel, voltage-dependent, gamma subunit 1 HELZ 17q24.2 helicase with zinc finger domain PSMD12 17q24.3 proteasome (prosome, macropain) 26S subunit, non-ATPase, 12 PITPNC1 17q24.3 phosphatidylinositol transfer protein, cytoplasmic 1 DKFZP586L0724 17q24.3 DKFZP586L0724 protein LOC253924 17q24.3 similar to 60S ribosomal protein L17 (L23) FALZ 17q24 fetal Alzheimer antigen LOC284018 17q24.3 hypothetical protein LOC284018 LOC390809 17 similar to KIAA0563 protein LOC388413 17 similar to PP905 LOC51321 17q24.3 hypothetical protein LOC51321 SLC16A6 17q25.1 solute carrier family 16 (monocarboxylic acid transporters), member 6 KIAA1001 17q23-q24 solute carrier family 16 (monocarboxylic acid transporters), member 6 FLJ10055 17q24.3 hypothetical protein FLJ10055 PRKAR1A 17q23-q24 protein kinase, cAMP-dependent, regulatory, type I, alpha (tissue specific extinguisher 1) FAM20A 17q24.3 family with sequence similarity 20, member A ABCA8 17q24 ATP-binding cassette, sub-family A (ABC1), member 8 ABCA9 17q24 ATP-binding cassette, sub-family A (ABC1), member 9 ABCA6 17q24.2 ATP-binding cassette, sub-family A (ABC1), member 6 ABCA10 17q24 ATP-binding cassette, sub-family A (ABC1), member 10 ABCA5 17q21-q25 ATP-binding cassette, sub-family A (ABC1), member 5 MAP2K6 17q23.1-q24.2 mitogen-activated protein kinase kinase 6 LOC388414 17 LOC388414 LOC388415 17 LOC388415 KCNJ16 17q23.1-q21.2 potassium inwardly-rectifying channel, subfamily J, member 16
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    9 - 6264 38 332 - 2012 22822086
    shortest transcript but longest isoform
    10 - 6383 - 268 - 2012 22822086
    an alternate exon causing a frameshift resulting in a shorter isoform with a distinct C terminus
    EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart    
    Digestiveliver    
    Nervousbrain    
    Urinarykidney    
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Muscular    
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Blood/Hematopoieticleukocyte
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • a N-terminal PITP-like domain
  • several potential protein kinase A/C phosphorylation sites
  • a PITP domain followed by a C-terminal extension of 60 amino acids
  • C-terminus contains two tandem phosphorylated binding sites (Ser(274) and Ser(299)) for 14-3-3, and also contains PEST sequences which are shielded by 14-3-3 binding
  • HOMOLOGY
    interspecies homolog to rattus LOC363688
    Homologene
    FAMILY
  • phosphatidylinositol transfer protein family
  • Class IIB PITP family
  • CATEGORY transport
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm
    intracellular,nucleus,nucleoplasm
    basic FUNCTION
  • transfers phosphatidylinositol from one mebrane compartment to one another
  • likely implicated in the maintenance of diacylglycerol (DAG) levels and secretory function at Golgi membranes (pMID: 17543578)
  • executes likely its function following recruitment to membranes via its PITP domain and the C-terminal end of the protein could regulate entry to the hydrophobic cavity
  • participate in many cellular processes including cell signaling, membrane traffic, and lipid metabolism
  • when containing phosphatidic acid (PA), regulates an effector protein or can facilitate lipid transfer between membrane compartments
  • PITPNM1, PITPNM2, PITPNM3, PITPNA, PITPNB, PITPNC1 are regulators of phosphoinositide pathways by recruitment to membranes through specific protein interactions to promote molecular exchange between closely opposed membranes i.e., at membrane contact sites
  • is a PI4P-binding protein that enhances vesicular secretion capacity in malignancy
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling signal transduction
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • binds and transfers phosphatidic acid (PA) but hardly binds phosphatidylcholine
  • recruits RAB1B to the Golgi network to drive malignant secretion
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral   amplification    
    in a large fraction of human breast cancer
    tumoral     --over  
    overexpressed in metastatic breast, melanoma, and colon cancers
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS