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FLASH GENE
Symbol PITPNB contributors: mct - updated : 23-12-2016
HGNC name phosphotidylinositol transfer protein, beta
HGNC id 9002
Location 22q12.1      Physical location : 28.247.657 - 28.315.255
Synonym symbol(s) PPI2, PI-TP-beta, PtdInsTP, VIB1B
DNA
TYPE functioning gene
STRUCTURE 67.64 kb     11 Exon(s)
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked N status provisional
Map cen - D22S1167 - D22S1144 - D22S1163 - D22S1148 - SEZ6L - D22S1154 - HMG1L10 - TPST2 - CRYBA4 /CRYBB1 - MN1 MN1 - PITPNB - D22S689 - D22S1150 - qter
Authors Dunham (99),Eisenbarth (01)
Physical map
SEZ6L 22q11.21-q12.2 seizure related 6 homolog (mouse)-like FLJ38343 22q12.1 hypothetical protein FLJ38343 LOC391324 22 similar to ribosomal protein S3a; 40S ribosomal protein S3a; v-fos transformation effector protein 1 LOC57168 22q12.1 similar to aspartate beta hydroxylase (ASPH) HPS4 22q11.2-q12.2 Hermansky-Pudlak syndrome 4 TFIP11 22q12.1 tuftelin interacting protein 11 TPST2 22q12.1 tyrosylprotein sulfotransferase 2 HMG1L10 22q12.1 high-mobility group (nonhistone chromosomal) protein 1-like 10 CRYBB1 22q11.22 crystallin, beta B1 CRYBA4 22q12.1 crystallin, beta A4 LOC391325 22 similar to HESB like domain containing 1 LOC388888 22 LOC388888 LOC388889 22 LOC388889 MN1 22q12.1 meningioma (disrupted in balanced translocation) 1 PITPNB 22q12.1 phosphotidylinositol transfer protein, beta KIAA1043 22q12.1 KIAA1043 protein LOC284901 22q12.2 similar to bA436C9.2 (PUTATIVE novel protein similar to part of HSP70/HSP90 organizing protein and transformation sensitive protein) CHEK2 22q12.1 CHK2 checkpoint homolog (S. pombe) HSC20 22q12.2 J-type co-chaperone HSC20 FLJ33814 22q12.2 hypothetical protein FLJ33814 XBP1 22q12.2 X-box binding protein 1 LOC388890 22 LOC388890 FLJ12747 22q12.1 novel C3HC4 type Zinc finger (ring finger) HS747E2A 22q12.1 hypothetical protein HS747E2A KREMEN1 22q12.1 kringle containing transmembrane protein 1 EMU1 22q12.2 emilin and multimerin-domain containing protein 1 C22orf3 22q12.1-q12.2 chromosome 22 open reading frame 3 EWSR1 22q12.2 Ewing sarcoma breakpoint region 1 GAS2L1 22q12.2 growth arrest-specific 2 like 1 RRP22 22q12.2 growth arrest-specific 2 like 1 AP1B1 22q12.2 adaptor-related protein complex 1, beta 1 subunit
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
11 - 2895 - 272 both PITPNB variants localize to the Golgi 2006 16780419
  • variant (sp2)
  • the C-terminal 15 amino acids of PITPNB-sp1 are replaced by an alternative C-terminus of 16 amino acids
  • is a product of the first 10 exons followed by the twelfth exon--exon 11 being 'skipped'
  • lacks the constitutively phosphorylated Ser262 (replaced with glutamine)
  • 12 - 2981 - 271 both PITPNB variants localize to the Golgi 2006 16780419
  • variant (sp1)
  • is the product of the first 11 exons
  • 12 - 2959 - 273 - 2006 16780419
  • variant (sp3)
  • EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestiveesophagus   highly
    Endocrinethyroid   highly
    Nervousbrain    
    Reproductivefemale systemuteruscervix highly
    Respiratoryrespiratory tracttrachea  highly
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • N-terminal PITP domain
  • Ser262 present in the C-terminus of PITPNB is constitutively phosphorylated and determines Golgi localization
  • HOMOLOGY
    interspecies homolog to murine Pitpub
    intraspecies homolog to PITPN
    Homologene
    FAMILY
  • PTDINS transfer protein family
  • Class I PITP family
  • CATEGORY transport carrier
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,organelle,endoplasmic reticulum
    intracellular,cytoplasm,organelle,Golgi
    text
  • localise to the Golgi and ER
  • basic FUNCTION
  • catalyzing the transfer of PTDINS and phosphatidylcholine between membranes
  • essential protein that possesses phosphatidylinositol (PtdIns) and phosphatidylcholine (PtdCho) lipid transfer activity, and PtdIns and PtdCho exchange activity of PITPNB is essential for COPI-mediated retrograde transport from the Golgi to the ER
  • is essential and is required for retrograde traffic from the Golgi to the endoplasmic reticulum and for maintenance of the nuclear architecture
  • 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
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    text vesicular transport
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein binding and transferring sphingomyelin (SM), activity correlated with phosphorylation of Ser262, which is only present in PITPNB
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional     --over  
    in Atopic dermatitis (AD)
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS