Format

Send to:

Choose Destination

PITPNB phosphatidylinositol transfer protein beta [ Homo sapiens (human) ]

Gene ID: 23760, updated on 8-Dec-2018

Summary

Official Symbol
PITPNBprovided by HGNC
Official Full Name
phosphatidylinositol transfer protein betaprovided by HGNC
Primary source
HGNC:HGNC:9002
See related
Ensembl:ENSG00000180957 MIM:606876
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
VIB1B; PtdInsTP; PI-TP-beta
Summary
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]
Expression
Ubiquitous expression in esophagus (RPKM 27.0), urinary bladder (RPKM 21.0) and 25 other tissues See more
Orthologs

Genomic context

See PITPNB in Genome Data Viewer
Location:
22q12.1
Exon count:
13
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 22 NC_000022.11 (27851669..27919306, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (28247657..28315255, complement)

Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107985529 Neighboring gene VISTA enhancer hs1271 Neighboring gene TTC28 antisense RNA 1 Neighboring gene microRNA 3199-1 Neighboring gene microRNA 3199-2 Neighboring gene tetratricopeptide repeat domain 28 Neighboring gene RNA, 7SL, cytoplasmic 757, pseudogene

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Pathways from BioSystems

  • Glycerophospholipid biosynthesis, organism-specific biosystem (from REACTOME)
    Glycerophospholipid biosynthesis, organism-specific biosystemGlycerophospholipids are important structural and functional components of biological membranes and constituents of serum lipoproteins and the pulmonary surfactant. In addition, glycerophospholipids...
  • Metabolism, organism-specific biosystem (from REACTOME)
    Metabolism, organism-specific biosystemMetabolic processes in human cells generate energy through the oxidation of molecules consumed in the diet and mediate the synthesis of diverse essential molecules not taken in the diet as well as th...
  • Metabolism of lipids and lipoproteins, organism-specific biosystem (from REACTOME)
    Metabolism of lipids and lipoproteins, organism-specific biosystemLipids are hydrophobic but otherwise chemically diverse molecules that play a wide variety of roles in human biology. They include ketone bodies, fatty acids, triacylglycerols, phospholipids and sphi...
  • PI Metabolism, organism-specific biosystem (from REACTOME)
    PI Metabolism, organism-specific biosystemPhosphatidylinositol (PI), a membrane phospholipid, can be reversibly phosphorylated at the 3, 4, and 5 positions of the inositol ring to generate seven phosphoinositides: phosphatidylinositol 3-phos...
  • PI and PC transport between ER and Golgi membranes, organism-specific biosystem (from REACTOME)
    PI and PC transport between ER and Golgi membranes, organism-specific biosystemThe phosphatidylinositol transfer protein beta isoform (PITPNB) bound to phosphatidylinositol (PI) complex transports from the endoplasmic reticulum (ER) membrane to the Golgi membrane, where phospha...
  • Phospholipid metabolism, organism-specific biosystem (from REACTOME)
    Phospholipid metabolism, organism-specific biosystemPhospholipids contain a polar head group and two long-chain fatty acyl moieties, one of which is generally unsaturated. The head group is a glycerol or serine phosphate attached to a polar group such...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
phosphatidylcholine binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
phosphatidylcholine binding IDA
Inferred from Direct Assay
more info
PubMed 
phosphatidylcholine transporter activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
phosphatidylcholine transporter activity IDA
Inferred from Direct Assay
more info
PubMed 
phosphatidylinositol binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
phosphatidylinositol binding IDA
Inferred from Direct Assay
more info
PubMed 
phosphatidylinositol transporter activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
phosphatidylinositol transporter activity IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
lipid metabolic process NAS
Non-traceable Author Statement
more info
PubMed 
nucleus organization TAS
Traceable Author Statement
more info
PubMed 
phospholipid transport IDA
Inferred from Direct Assay
more info
PubMed 
phospholipid transport TAS
Traceable Author Statement
more info
 
retrograde vesicle-mediated transport, Golgi to ER TAS
Traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
Golgi membrane TAS
Traceable Author Statement
more info
 
cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
endoplasmic reticulum membrane TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
phosphatidylinositol transfer protein beta isoform
Names
PtdIns transfer protein beta
phosphotidylinositol transfer protein, beta

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001284277.1NP_001271206.1  phosphatidylinositol transfer protein beta isoform isoform 2

    See identical proteins and their annotated locations for NP_001271206.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (sp2) lacks an exon that results in an alternate 3' coding region, compared to variant sp1. The encoded isoform (2) has a distinct C-terminus and is 1 aa longer than isoform 1.
    Source sequence(s)
    BC018704, BC031427, BQ774593, HY176246
    Consensus CDS
    CCDS63433.1
    UniProtKB/Swiss-Prot
    P48739
    Related
    ENSP00000321266.10, ENST00000320996.14
    Conserved Domains (1) summary
    cd08888
    Location:3259
    SRPBCC_PITPNA-B_like; Lipid-binding SRPBCC domain of mammalian PITPNA, -B, and related proteins (Class I PITPs)
  2. NM_001284278.1NP_001271207.1  phosphatidylinositol transfer protein beta isoform isoform 3

    See identical proteins and their annotated locations for NP_001271207.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (sp3) uses an alternate 5' terminal exon, and it thus differs in the 5' UTR and 5' coding region, compared to variant sp1. The encoded isoform (3) has a distinct N-terminus and is 2 aa longer than isoform 1.
    Source sequence(s)
    AK302367, BC018704, BQ774593, DC313909
    Consensus CDS
    CCDS63432.1
    UniProtKB/Swiss-Prot
    P48739
    Related
    ENSP00000487693.1, ENST00000634017.1
    Conserved Domains (1) summary
    cd08888
    Location:10261
    SRPBCC_PITPNA-B_like; Lipid-binding SRPBCC domain of mammalian PITPNA, -B, and related proteins (Class I PITPs)
  3. NM_012399.4NP_036531.1  phosphatidylinositol transfer protein beta isoform isoform 1

    See identical proteins and their annotated locations for NP_036531.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (sp1) encodes the shortest isoform (1).
    Source sequence(s)
    BC018704, BQ774593, HY176246
    Consensus CDS
    CCDS13842.1
    UniProtKB/Swiss-Prot
    P48739
    Related
    ENSP00000334738.5, ENST00000335272.9
    Conserved Domains (1) summary
    cd08888
    Location:3259
    SRPBCC_PITPNA-B_like; Lipid-binding SRPBCC domain of mammalian PITPNA, -B, and related proteins (Class I PITPs)

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000022.11 Reference GRCh38.p12 Primary Assembly

    Range
    27851669..27919306 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011530052.2XP_011528354.1  phosphatidylinositol transfer protein beta isoform isoform X1

    Conserved Domains (1) summary
    cd08888
    Location:10261
    SRPBCC_PITPNA-B_like; Lipid-binding SRPBCC domain of mammalian PITPNA, -B, and related proteins (Class I PITPs)
  2. XM_017028707.1XP_016884196.1  phosphatidylinositol transfer protein beta isoform isoform X2

RNA

  1. XR_002958679.1 RNA Sequence

  2. XR_001755190.1 RNA Sequence

Support Center