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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 Isoform 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. Gene Ontology (GO) annotations related to this gene include lipid binding. An important paralog of this gene is PITPNA.

UniProtKB/Swiss-Prot for PITPNB Gene

  • Catalyzes the transfer of PtdIns and phosphatidylcholine between membranes.

Gene Wiki entry for PITPNB Gene

Additional gene information for PITPNB Gene

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

Genomics for PITPNB Gene

GeneHancer (GH) Regulatory Elements for PITPNB Gene

Promoters and enhancers for PITPNB Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH22J027917 Promoter/Enhancer 2.3 EPDnew FANTOM5 Ensembl ENCODE 658.3 +0.7 717 3.4 HDGF PKNOX1 ARID4B SIN3A DMAP1 YY1 POLR2B SP3 SP5 NFYC TTC28-AS1 PITPNB ENSG00000277460 MIR3199-1 MIR3199-2 TTC28 CCDC117
GH22J027933 Promoter 1 EPDnew 650.4 -13.1 -13097 0.1 SCRT1 TAF1 RXRA MAX MZF1 FEZF1 REST ZNF843 RAD21 GABPA GC22P027932 PITPNB TTC28-AS1 ENSG00000274342
GH22J027863 Enhancer 1.6 FANTOM5 Ensembl ENCODE dbSUPER 19 +52.3 52304 9.6 FOXA2 FEZF1 ZNF2 BRCA1 YY1 FOS NFKBIZ RXRA REST MAFF PITPNB TTC28-AS1 MN1 TTC28 GC22M027880
GH22J027885 Enhancer 1.2 Ensembl ENCODE dbSUPER 11.8 +33.8 33757 2.4 PKNOX1 FOXA2 SIN3A RAD21 ZEB1 ZNF366 ZNF143 FOS ATF7 CEBPB TTC28-AS1 PITPNB ENSG00000272858 GC22M027880
GH22J027842 Enhancer 1.2 VISTA ENCODE dbSUPER 10.8 +77.2 77225 1.8 RFX1 REST ZIC2 GABPA PRDM6 ZNF213 ZNF692 GLIS1 ZSCAN5C FOXP2 MN1 PITPNB TTC28-AS1 GC22M027880
- 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 UCSC Golden Path with GeneCards custom track

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

Genomic Locations for PITPNB Gene

Genomic Locations for PITPNB Gene
chr22:27,851,669-27,920,134
(GRCh38/hg38)
Size:
68,466 bases
Orientation:
Minus strand
chr22:28,247,657-28,316,122
(GRCh37/hg19)
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 Lys252, isoforms=2, 3215, isoforms=2, 3208, Lys201, isoforms=2, 3179, Lys110, Lys104, isoforms=2, 386, and isoforms=25
  • Modification sites at PhosphoSitePlus

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

UniProtKB/Swiss-Prot Function:
Catalyzes the transfer of PtdIns and phosphatidylcholine between membranes.
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:0005548 phospholipid transporter activity IEA --
GO:0008289 lipid binding IEA --
GO:0008525 phosphatidylcholine transporter activity IDA 16274224
GO:0008526 phosphatidylinositol transporter activity IDA 16274224
GO:0031210 phosphatidylcholine binding IDA 16274224
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:

Animal Model Products

Clone Products

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

Cytoplasm. Golgi apparatus.

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
extracellular 5
endoplasmic reticulum 5
golgi apparatus 5
cytosol 4
plasma membrane 1
mitochondrion 1
nucleus 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:0005622 intracellular IEA --
GO:0005737 cytoplasm IEA --
GO:0005789 endoplasmic reticulum membrane TAS --
GO:0005794 Golgi apparatus IEA --
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 --
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
  • (Z,Z)-(1)-(7-Oleoyl-4-oxido-10-oxo-3,5,9-trioxa-4-phosphaheptacos-18-enyl)trimethylammonium 4-oxide
  • (Z,Z)-4-Hydroxy-N,N,N-trimethyl-10-oxo-7-[(1-oxo-9-octadecenyl)oxy]-3,5,9-trioxa-4-phosphaheptacos-18-en-1-aminium 4-oxide hydroxide inner salt
  • 1,2-Dioleoyl-rac-glycero-3-phosphocholine
  • 1,2-Dioleoylglycerol-3-phosphorylcholine
  • 1,2-Dioleoylglyceryl-3-phosphorylcholine
68737-67-7
Phosphatidylcholines Group B
  • 1-Hexadecyl-2-(9Z,12Z-octadecadienoyl)-sn-glycero-3-phosphocholine
  • 2-(9Z,12Z-Octadecadienoyl)-1-hexadecyl-sn-glycero-3-phosphocholine
  • PC Ae C34:2
  • PC(16:0E/18:2(9Z,12Z))
  • PC(O-34:2)
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
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(32:0)
genes like me logo Genes that share compounds with PITPNB: view

Transcripts for PITPNB Gene

mRNA/cDNA for PITPNB Gene

(5) REFSEQ mRNAs :
(7) Additional mRNA sequences :
(14) Selected AceView cDNA sequences:
(11) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for PITPNB Gene

Phosphatidylinositol transfer protein, beta:
Representative Sequences:

Clone 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 from GTEx, Illumina, BioGPS, and CGAP 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

NURSA nuclear receptor signaling pathways regulating expression of PITPNB Gene:

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(4.2)
genes like me logo Genes that share expression patterns with PITPNB: view

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 34 33
  • 99.88 (n)
OneToOne
dog
(Canis familiaris)
Mammalia PITPNB 34 33
  • 95.94 (n)
OneToOne
cow
(Bos Taurus)
Mammalia PITPNB 34 33
  • 94.46 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia -- 34
  • 93 (a)
OneToMany
-- 34
  • 82 (a)
OneToMany
-- 34
  • 75 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Pitpnb 33
  • 92.5 (n)
mouse
(Mus musculus)
Mammalia Pitpnb 16 34 33
  • 91.88 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia PITPNB 34
  • 89 (a)
OneToOne
chicken
(Gallus gallus)
Aves PITPNB 34 33
  • 81.6 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PITPNB 34
  • 74 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia pitpnb.2 33
  • 79.43 (n)
MGC75853 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.8543 33
zebrafish
(Danio rerio)
Actinopterygii pitpnb 34 33
  • 75.22 (n)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta vib 34 35 33
  • 61.78 (n)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP001957 33
  • 59 (n)
worm
(Caenorhabditis elegans)
Secernentea CELE_Y54F10AR.1 33
  • 61.07 (n)
Y54F10AR.1 34 35
  • 60 (a)
OneToMany
Y71G12B.17 35
  • 41 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.9844 34
  • 57 (a)
OneToMany
Cin.12029 33
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.12029 33
Species where no ortholog for PITPNB was found in the sources mined by GeneCards:
  • 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)
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

Sequence variations from dbSNP and Humsavar for PITPNB Gene

SNP ID Clin Chr 22 pos Variation AA Info Type
rs1000053808 -- 27,903,640(-) G/C intron_variant
rs1000060535 -- 27,882,087(-) A/G intron_variant
rs1000112 -- 27,877,351(-) G/C intron_variant
rs1000137534 -- 27,888,422(-) T/A intron_variant
rs1000143091 -- 27,865,168(-) A/T genic_downstream_transcript_variant, intron_variant

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

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PITPNB Gene

Disorders for PITPNB Gene

Additional Disease Information for 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 … O'Brien KP (Nature 1999) 2 3 4 58
  2. Cloning and expression of human cDNA encoding phosphatidylinositol transfer protein beta. (PMID: 8541325) Tanaka S … Hosaka K (Biochimica et biophysica acta 1995) 3 4 22 58
  3. 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 22 58
  4. 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 22 58
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58

Products for PITPNB Gene

Sources for PITPNB Gene

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