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] See more...

Aliases for PITPNB Gene

Aliases for PITPNB Gene

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

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. Diseases associated with PITPNB include Cleft Soft Palate and Cerebellopontine Angle Tumor. Among its related pathways are PI Metabolism and Glycerophospholipid biosynthesis. Gene Ontology (GO) annotations related to this gene include lipid binding. An important paralog of this gene is PITPNA.

UniProtKB/Swiss-Prot Summary for PITPNB Gene

  • Catalyzes the transfer of phosphatidylinositol and phosphatidylcholine between membranes (PubMed:10531358, PubMed:18636990, PubMed:20332109). Also catalyzes the transfer of sphingomyelin (By similarity). Required for COPI-mediated retrograde transport from the Golgi to the endoplasmic reticulum; phosphatidylinositol and phosphatidylcholine transfer activity is essential for this function (PubMed:20332109).

Gene Wiki entry for PITPNB Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for PITPNB Gene

Genomics for PITPNB Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for PITPNB Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around PITPNB on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for PITPNB

Top Transcription factor binding sites by QIAGEN in the PITPNB gene promoter:
  • Evi-1
  • GATA-6
  • ISGF-3
  • Meis-1
  • Meis-1a
  • Meis-1b
  • PPAR-gamma2
  • Sp1
  • YY1

Genomic Locations for PITPNB Gene

Latest Assembly
chr22:27,851,669-27,920,134
(GRCh38/hg38)
Size:
68,466 bases
Orientation:
Minus strand

Previous Assembly
chr22:28,247,657-28,315,244
(GRCh37/hg19 by Entrez Gene)
Size:
67,588 bases
Orientation:
Minus strand

chr22:28,247,657-28,316,122
(GRCh37/hg19 by Ensembl)
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

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 Lys5, Lys86, Lys104, Lys110, Lys179, Lys201, Lys208, Lys215, and Lys252
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for PITPNB Gene

Domains & Families for PITPNB Gene

Gene Families for PITPNB Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for PITPNB Gene

InterPro:
Blocks:
  • Phosphatidylinositol transfer protein signature
ProtoNet:

Suggested Antigen Peptide Sequences for PITPNB Gene

GenScript: Design optimal peptide antigens:
  • Phosphatidylinositol transfer protein, beta (B3KYB5_HUMAN)
  • cDNA FLJ53628, highly similar to Phosphatidylinositol transfer protein beta isoform (B7Z7Q0_HUMAN)
  • Phosphatidylinositol transfer protein beta isoform (PIPNB_HUMAN)

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

UniProtKB/Swiss-Prot Function:
Catalyzes the transfer of phosphatidylinositol and phosphatidylcholine between membranes (PubMed:10531358, PubMed:18636990, PubMed:20332109). Also catalyzes the transfer of sphingomyelin (By similarity). Required for COPI-mediated retrograde transport from the Golgi to the endoplasmic reticulum; phosphatidylinositol and phosphatidylcholine transfer activity is essential for this function (PubMed:20332109).
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=a 1,2-diacyl-sn-glycero-3-phosphocholine(in) = a 1,2-diacyl-sn-glycero-3-phosphocholine(out); Xref=Rhea:RHEA:38571, ChEBI:CHEBI:57643; Evidence={ECO:0000269|PubMed:18636990, ECO:0000269|PubMed:20332109};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=a 1,2-diacyl-sn-glycero-3-phospho-(1D-myo-inositol)(in) = a 1,2-diacyl-sn-glycero-3-phospho-(1D-myo-inositol)(out); Xref=Rhea:RHEA:38691, ChEBI:CHEBI:57880; Evidence={ECO:0000269|PubMed:10531358, ECO:0000269|PubMed:18636990, ECO:0000269|PubMed:20332109};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=an N-(acyl)-sphingosylphosphocholine(in) = an N-(acyl)-sphingosylphosphocholine(out); Xref=Rhea:RHEA:43776, ChEBI:CHEBI:64583; Evidence={ECO:0000250|UniProtKB:Q9TR36};.
UniProtKB/Swiss-Prot EnzymeRegulation:
Phosphatidylinositol transfer activity is inhibited by N-ethylmaleimide.
GENATLAS Biochemistry:
phosphotidylinositol transfer protein, beta

Phenotypes From GWAS Catalog for PITPNB Gene

Gene Ontology (GO) - Molecular Function for PITPNB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 32814053
GO:0005548 phospholipid transporter activity IEA --
GO:0008289 lipid binding IEA --
GO:0008525 phosphatidylcholine transporter activity IDA 16274224
GO:0008526 phosphatidylinositol transporter activity IBA,IMP 18636990
genes like me logo Genes that share ontologies with PITPNB: view
genes like me logo Genes that share phenotypes with PITPNB: view

Animal Models for PITPNB Gene

MGI Knock Outs for PITPNB:

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PITPNB

No data available for Enzyme Numbers (IUBMB) , 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

Golgi apparatus. Golgi apparatus membrane. Endoplasmic reticulum membrane.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for PITPNB gene
Compartment Confidence
golgi apparatus 4
cytosol 3
plasma membrane 1
extracellular 1
cytoskeleton 1
mitochondrion 1
peroxisome 1
nucleus 1
endoplasmic reticulum 1
endosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Vesicles (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for PITPNB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000139 Golgi membrane TAS --
GO:0005737 cytoplasm IBA 21873635
GO:0005789 endoplasmic reticulum membrane TAS --
GO:0005794 Golgi apparatus ISS --
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

Gene Ontology (GO) - Biological Process for PITPNB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006629 lipid metabolic process NAS 8541325
GO:0006890 retrograde vesicle-mediated transport, Golgi to ER TAS 22822086
GO:0006997 nucleus organization TAS 22822086
GO:0015914 phospholipid transport IEA,TAS --
GO:0120009 intermembrane lipid transfer IEA --
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

(1) Drugs for PITPNB Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
L-Dilinoleoyllecithin Experimental Pharma 0

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
CE(22:0)
  • 1-Tetradecanoyl-2-octadecanoyl-sn-glycero-3-phosphocholine
  • GPCho(14:0/18:0)
  • Phosphatidylcholine(14:0/18:0)
  • 1-Myristoyl-2-stearoylphosphatidylcholine
  • 1m-2S-PC
61510-09-6
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)
PC(20:2(11Z,14Z)/18:1(11Z))
  • Phosphatidylcholine(20:2/18:1)
  • GPCho(20:2/18:1)
  • Phosphatidylcholine(38:3)
  • PC(38:3)
  • Lecithin
PC(22:4(7Z,10Z,13Z,16Z)/18:1(11Z))
  • PC(22:4/18:1)
  • Phosphatidylcholine(22:4/18:1)
  • Phosphatidylcholine(40:5)
  • 1-Adrenoyl-2-vaccenoyl-sn-glycero-3-phosphocholine
  • GPCho(40:5)
2461-62-3
Phosphatidylcholines Group A
  • (R-(Z,Z))-(7-Oleoyl-4-oxido-10-oxo-3,5,9-trioxa-4-phosphaheptacos-18-enyl)trimethylammonium 4-oxide
  • 1,2-Di-(9Z-octadecenoyl)-sn-glycero-3-phosphocholine
  • 1,2-Dioleoyl-L-alpha-lecithin
  • 1-(9Z)-Octadecenoyl-2-(9Z)-octadecenoyl-sn-glycero-3-phosphocholine
  • 1-C18:1(Omega-9)-2-C18:1(omega-9)-phosphatidylcholine
4235-95-4, 18194-24-6, 92345-33-0, 944466-40-4, 253127-60-5, 203393-41-3, 85046-19-1, 56421-10-4, 53595-24-7, 27098-24-4, 59403-51-9, 85082-02-6, 26853-31-6, 17708-90-6, 203393-39-9, 35418-59-8, 17041-44-0, 35418-58-7, 2701-19-1, 1191905-21-1, 85082-03-7, 324054-21-9, 182820-31-1
genes like me logo Genes that share compounds with PITPNB: view

Transcripts for PITPNB Gene

mRNA/cDNA for PITPNB Gene

3 REFSEQ mRNAs :
12 NCBI additional mRNA sequence :
11 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PITPNB

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

Expression for PITPNB Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE 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, MaxQB, and MOPED for PITPNB Gene



Protein tissue co-expression partners for PITPNB Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for PITPNB

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.

Evidence on tissue expression from TISSUES for PITPNB Gene

  • Nervous system(4.8)
  • Skin(4.4)
  • Liver(2.4)
  • Kidney(2.1)
genes like me logo Genes that share expression patterns with PITPNB: view

Primer products for research

No data available for mRNA differential expression in normal tissues , Protein differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer 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
Chimpanzee
(Pan troglodytes)
Mammalia PITPNB 30 31
  • 99.88 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia PITPNB 30 31
  • 95.94 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia PITPNB 30 31
  • 94.46 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia -- 31
  • 93 (a)
OneToMany
-- 31
  • 82 (a)
OneToMany
-- 31
  • 75 (a)
OneToMany
Rat
(Rattus norvegicus)
Mammalia Pitpnb 30
  • 92.5 (n)
Mouse
(Mus musculus)
Mammalia Pitpnb 30 17 31
  • 91.88 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia PITPNB 31
  • 89 (a)
OneToOne
Chicken
(Gallus gallus)
Aves PITPNB 30 31
  • 81.6 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia PITPNB 31
  • 74 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia pitpnb.2 30
  • 79.43 (n)
MGC75853 30
African clawed frog
(Xenopus laevis)
Amphibia Xl.8543 30
Zebrafish
(Danio rerio)
Actinopterygii pitpnb 30 31
  • 75.22 (n)
OneToOne
Fruit Fly
(Drosophila melanogaster)
Insecta vib 30 31 32
  • 61.78 (n)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP001957 30
  • 59 (n)
Worm
(Caenorhabditis elegans)
Secernentea CELE_Y54F10AR.1 30
  • 61.07 (n)
Y54F10AR.1 31 32
  • 60 (a)
OneToMany
Y71G12B.17 32
  • 41 (a)
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.9844 31
  • 57 (a)
OneToMany
Sea Vase
(Ciona intestinalis)
Ascidiacea Cin.12029 30
Species where no ortholog for PITPNB was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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)
Aminode:
Evolutionary constrained regions (ECRs) for PITPNB: view image

Paralogs for PITPNB Gene

Paralogs for PITPNB Gene

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

  • PIPNB_HUMAN
  • B3KYB6_HUMAN
  • B3KYB7_HUMAN
  • B7Z7Q0_HUMAN
genes like me logo Genes that share paralogs with PITPNB: view

Variants for PITPNB Gene

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for PITPNB Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for PITPNB Gene

Variant ID Type Subtype PubMed ID
dgv2452n106 CNV deletion 24896259
nsv1071787 CNV deletion 25765185
nsv588878 CNV loss 21841781

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)

Additional Variant Information for PITPNB Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
PITPNB

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for PITPNB Gene

Disorders for PITPNB Gene

MalaCards: The human disease database

(4) MalaCards diseases for PITPNB Gene - From: COP

Disorder Aliases PubMed IDs
cleft soft palate
  • cleft velum
cerebellopontine angle tumor
  • cerebellopontine angle tumour
ankyloglossia with or without tooth anomalies
  • ankg
bardet-biedl syndrome 1
  • bbs1
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for PITPNB

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

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

Publications for PITPNB Gene

  1. 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 (Journal of cell science 2010) 3 4 23
  2. The DNA sequence of human chromosome 22. (PMID: 10591208) Dunham I … O'Brien KP (Nature 1999) 2 3 4
  3. Cloning and expression of human cDNA encoding phosphatidylinositol transfer protein beta. (PMID: 8541325) Tanaka S … Hosaka K (Biochimica et biophysica acta 1995) 3 4 23
  4. Dynamics of lipid transfer by phosphatidylinositol transfer proteins in cells. (PMID: 18636990) Shadan S … Cockcroft S (Traffic (Copenhagen, Denmark) 2008) 3 4
  5. Structure of PITPbeta in complex with phosphatidylcholine: comparison of structure and lipid transfer to other PITP isoforms. (PMID: 16274224) Vordtriede PB … Yoder MD (Biochemistry 2005) 3 23

Products for PITPNB Gene

Sources for PITPNB Gene