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Aliases for PITPNB Gene

Aliases for PITPNB Gene

  • Phosphatidylinositol Transfer Protein Beta 2 3 5
  • PtdIns Transfer Protein Beta 3 4
  • PI-TP-Beta 3 4
  • Phosphatidylinositol Transfer Protein, Beta 3
  • Phosphotidylinositol Transfer Protein, Beta 3
  • PtdInsTP Beta 4
  • PtdInsTP 3
  • VIB1B 3

External Ids for PITPNB Gene

Previous GeneCards Identifiers for PITPNB Gene

  • GC22M024943
  • GC22M026572
  • GC22M028202
  • GC22M011211

Summaries for PITPNB Gene

Entrez Gene Summary for PITPNB Gene

  • This gene encodes a cytoplasmic protein that catalyzes the transfer of phosphatidylinositol and phosphatidylcholine between membranes. This transfer activity is required for COPI complex-mediated retrograde transport from the Golgi apparatus to the endoplasmic reticulum. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Sep 2013]

GeneCards Summary for PITPNB Gene

PITPNB (Phosphatidylinositol Transfer Protein Beta) is a Protein Coding gene. Among its related pathways are Metabolism and Glycerophospholipid biosynthesis. GO annotations related to this gene include lipid binding. An important paralog of this gene is PITPNM2.

UniProtKB/Swiss-Prot for PITPNB Gene

  • Catalyzes the transfer of PtdIns and phosphatidylcholine between membranes.

Gene Wiki entry for PITPNB Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PITPNB Gene

Genomics for PITPNB Gene

Regulatory Elements for PITPNB Gene

Promoters for PITPNB Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around PITPNB on UCSC Golden Path with GeneCards custom track

Genomic Location for PITPNB Gene

Chromosome:
22
Start:
27,851,669 bp from pter
End:
27,920,134 bp from pter
Size:
68,466 bases
Orientation:
Minus strand

Genomic View for PITPNB Gene

Genes around PITPNB on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PITPNB Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PITPNB Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PITPNB Gene

Proteins for PITPNB Gene

  • Protein details for PITPNB Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P48739-PIPNB_HUMAN
    Recommended name:
    Phosphatidylinositol transfer protein beta isoform
    Protein Accession:
    P48739
    Secondary Accessions:
    • B3KYB8
    • B7Z7Q0
    • Q8N5W1

    Protein attributes for PITPNB Gene

    Size:
    271 amino acids
    Molecular mass:
    31540 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for PITPNB Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PITPNB Gene

Proteomics data for PITPNB Gene at MOPED

Post-translational modifications for PITPNB Gene

  • Constitutive phosphorylation of Ser-262 has no effect on phospholipid transfer activity but is required for Golgi targeting.
  • Ubiquitination at Lys 5, Lys 86, Lys 104, Lys 110, Lys 179, Lys 201, Lys 208, Lys 215, and Lys 252
  • Modification sites at PhosphoSitePlus

Other Protein References for PITPNB Gene

No data available for DME Specific Peptides for PITPNB Gene

Domains & Families for PITPNB Gene

Gene Families for PITPNB Gene

Protein Domains for PITPNB Gene

Graphical View of Domain Structure for InterPro Entry

P48739

UniProtKB/Swiss-Prot:

PIPNB_HUMAN :
  • Belongs to the PtdIns transfer protein family. PI transfer class I subfamily.
Family:
  • Belongs to the PtdIns transfer protein family. PI transfer class I subfamily.
genes like me logo Genes that share domains with PITPNB: view

Function for PITPNB Gene

Molecular function for PITPNB Gene

GENATLAS Biochemistry:
phosphotidylinositol transfer protein, beta
UniProtKB/Swiss-Prot Function:
Catalyzes the transfer of PtdIns and phosphatidylcholine between membranes.
genes like me logo Genes that share phenotypes with PITPNB: view

Animal Models for PITPNB Gene

MGI Knock Outs for PITPNB:

Animal Model Products

Inhibitory RNA Products

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for PITPNB Gene

Localization for PITPNB Gene

Subcellular locations from UniProtKB/Swiss-Prot for PITPNB Gene

Cytoplasm. Golgi apparatus.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for PITPNB Gene COMPARTMENTS Subcellular localization image for PITPNB gene
Compartment Confidence
endoplasmic reticulum 5
extracellular 5
golgi apparatus 5
cytosol 4
mitochondrion 1
nucleus 1
plasma membrane 1

Gene Ontology (GO) - Cellular Components for PITPNB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0070062 extracellular exosome IDA 23376485
genes like me logo Genes that share ontologies with PITPNB: view

Pathways & Interactions for PITPNB Gene

genes like me logo Genes that share pathways with PITPNB: view

Pathways by source for PITPNB Gene

Interacting Proteins for PITPNB Gene

Gene Ontology (GO) - Biological Process for PITPNB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006629 lipid metabolic process NAS 8541325
GO:0006810 transport IEA --
GO:0015914 phospholipid transport TAS --
GO:0044281 small molecule metabolic process TAS --
genes like me logo Genes that share ontologies with PITPNB: view

No data available for SIGNOR curated interactions for PITPNB Gene

Drugs & Compounds for PITPNB Gene

(385) Additional Compounds for PITPNB Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
PC(18:1(9Z)e/2:0)
  • (2-acetyloxy-3-octadec-9-enoxypropyl) 2-trimethylazaniumylethyl phosphate
  • 2-Acetyl-1-(9Z-octadecenyl)-sn-glycero-3-phosphocholine
  • PC(O-18:1(9Z)/2:0)
Phosphatidylcholines Group A
  • (R)-4-hydroxy-N,N,N-trimethyl-10-oxo-7-[(1-oxohexadecyl)oxy]-3,5,9-Trioxa-4-phosphapentacosan-1-aminium 4-oxide hydroxide inner salt
  • (R)-4-hydroxy-N,N,N-trimethyl-10-oxo-7-[(1-oxohexadecyl)oxy]-3,5,9-Trioxa-4-phosphapentacosan-1-aminium 4-oxide inner salt
  • 1,2-Bis(hexadecanoyl)-sn-glycero-3-phosphocholine
  • 1,2-Bis(palmitoyl)-sn-glycero-3-phosphocholine
  • 1,2-Dihexadecanoyl-sn-glycerol-3-phosphorylcholine
63-89-8, 68737-67-7
Phosphatidylcholines Group B
  • 1-(1-Enyl-palmitoyl)-2-stearidonoyl-sn-glycero-3-phosphocholine
  • GPCho(16:0/18:4)
  • GPCho(16:0/18:4n3)
  • GPCho(16:0/18:4w3)
  • GPCho(34:4)
88542-95-4
Phosphatidylinositol-3,4,5-trisphosphate
  • 1,2-Diacyl-sn-glycero-3-phospho-(1'-myo-inositol-3',4',5'-bisphosphate)
  • 1-Phosphatidyl-1D-myo-inositol 3,4,5-trisphosphate
  • Phosphatidylinositol-3,4,5-trisphosphate
PI(16:0/16:0)
  • 1,2-Dihexadecanoyl-rac-glycero-3-phospho-(1'-myo-inositol)
  • 1,2-Dipalmitoyl-rac-glycero-3-phosphoinositol
  • Phosphatidylinositol(16:0/16:0)
  • Phosphatidylinositol(32:0)
  • PI(16:0/16:0)
genes like me logo Genes that share compounds with PITPNB: view

Transcripts for PITPNB Gene

mRNA/cDNA for PITPNB Gene

Unigene Clusters for PITPNB Gene

Phosphatidylinositol transfer protein, beta:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for PITPNB Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11a · 11b
SP1: -
SP2: - -
SP3:

Relevant External Links for PITPNB Gene

GeneLoc Exon Structure for
PITPNB
ECgene alternative splicing isoforms for
PITPNB

Expression for PITPNB Gene

mRNA expression in normal human tissues for PITPNB Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for PITPNB Gene



SOURCE GeneReport for Unigene cluster for PITPNB Gene Hs.705323

mRNA Expression by UniProt/SwissProt for PITPNB Gene

P48739-PIPNB_HUMAN
Tissue specificity: Widely expressed in various tissues including brain.
genes like me logo Genes that share expression patterns with PITPNB: view

Protein tissue co-expression partners for PITPNB Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA differential expression in normal tissues and Protein differential expression in normal tissues for PITPNB Gene

Orthologs for PITPNB Gene

This gene was present in the common ancestor of animals.

Orthologs for PITPNB Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia PITPNB 35
  • 94.46 (n)
  • 99.26 (a)
PITPNB 36
  • 99 (a)
OneToOne
dog
(Canis familiaris)
Mammalia PITPNB 35
  • 95.94 (n)
  • 99.26 (a)
PITPNB 36
  • 97 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Pitpnb 35
  • 91.88 (n)
  • 97.42 (a)
Pitpnb 16
Pitpnb 36
  • 97 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia PITPNB 35
  • 99.88 (n)
  • 100 (a)
PITPNB 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Pitpnb 35
  • 92.5 (n)
  • 97.79 (a)
oppossum
(Monodelphis domestica)
Mammalia -- 36
  • 82 (a)
OneToMany
-- 36
  • 93 (a)
OneToMany
-- 36
  • 75 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia PITPNB 36
  • 89 (a)
OneToOne
chicken
(Gallus gallus)
Aves PITPNB 35
  • 81.6 (n)
  • 91.48 (a)
PITPNB 36
  • 89 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PITPNB 36
  • 74 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia MGC75853 35
pitpnb.2 35
  • 79.43 (n)
  • 87.73 (a)
African clawed frog
(Xenopus laevis)
Amphibia Xl.8543 35
zebrafish
(Danio rerio)
Actinopterygii pitpnb 35
  • 75.22 (n)
  • 85.13 (a)
pitpnb 36
  • 83 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta vib 37
  • 62 (a)
vib 35
  • 61.78 (n)
  • 65.25 (a)
vib 36
  • 63 (a)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP001957 35
  • 59 (n)
  • 61.3 (a)
worm
(Caenorhabditis elegans)
Secernentea Y54F10AR.1 37
  • 59 (a)
Y71G12B.17 37
  • 41 (a)
CELE_Y54F10AR.1 35
  • 61.07 (n)
  • 62.21 (a)
Y54F10AR.1 36
  • 60 (a)
OneToMany
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.12029 35
sea squirt
(Ciona savignyi)
Ascidiacea CSA.9844 36
  • 57 (a)
OneToMany
Species with no ortholog for PITPNB:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for PITPNB Gene

ENSEMBL:
Gene Tree for PITPNB (if available)
TreeFam:
Gene Tree for PITPNB (if available)

Paralogs for PITPNB Gene

Paralogs for PITPNB Gene

(4) SIMAP similar genes for PITPNB Gene using alignment to 4 proteins:

genes like me logo Genes that share paralogs with PITPNB: view

Variants for PITPNB Gene

Sequence variations from dbSNP and Humsavar for PITPNB Gene

SNP ID Clin Chr 22 pos Sequence Context AA Info Type
rs738451 -- 27,897,992(+) GACCA(C/G)GTTCT intron-variant
rs738453 -- 27,905,755(+) ACTTA(C/T)GCAGA intron-variant
rs738454 -- 27,909,521(+) ggtca(A/G)ttaac intron-variant
rs1000112 -- 27,877,351(+) ATTCG(C/G)ATTAG intron-variant
rs1297596 -- 27,856,059(+) TGGAA(C/T)CAAGC intron-variant

Variation tolerance for PITPNB Gene

Residual Variation Intolerance Score: 34.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.04; 0.99% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for PITPNB Gene

HapMap Linkage Disequilibrium report
PITPNB

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for PITPNB Gene

Disorders for PITPNB Gene

Relevant External Links for PITPNB

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
PITPNB

No disorders were found for PITPNB Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for PITPNB Gene

Publications for PITPNB Gene

  1. The DNA sequence of human chromosome 22. (PMID: 10591208) Dunham I. … Wright H. (Nature 1999) 2 3 4 67
  2. Phosphatidylinositol- and phosphatidylcholine-transfer activity of PITPbeta is essential for COPI-mediated retrograde transport from the Golgi to the endoplasmic reticulum. (PMID: 20332109) Carvou N. … Cockcroft S. (J. Cell. Sci. 2010) 3 23
  3. Phosphatidylinositol transfer protein beta displays minimal sphingomyelin transfer activity and is not required for biosynthesis and trafficking of sphingomyelin. (PMID: 12023904) SAcgui B. … Cockcroft S. (Biochem. J. 2002) 3 23
  4. Cloning and expression of human cDNA encoding phosphatidylinositol transfer protein beta. (PMID: 8541325) Tanaka S. … Hosaka K. (Biochim. Biophys. Acta 1995) 3 23
  5. Temporal proteomics of NGF-TrkA signaling identifies an inhibitory role for the E3 ligase Cbl-b in neuroblastoma cell differentiation. (PMID: 25921289) Emdal K.B. … Olsen J.V. (Sci Signal 2015) 3

Products for PITPNB Gene

Sources for PITPNB Gene

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