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

Gene ID: 23760, updated on 3-Nov-2024

Summary

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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; AllianceGenome:HGNC:9002
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
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Genomic context

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See PITPNB in Genome Data Viewer
Location:
22q12.1
Exon count:
14
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 22 NC_000022.11 (27851669..27919256, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 22 NC_060946.1 (28313107..28380672, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (28247657..28315244, complement)

Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:28145441-28146311 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:28153780-28154462 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:28161389-28161890 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:28161891-28162390 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:28175917-28176543 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:28181385-28181912 Neighboring gene OCT4-H3K4me1 hESC enhancer GRCh37_chr22:28186882-28187858 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:28194718-28195264 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:28195265-28195810 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:28200153-28200717 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:28200718-28201281 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr22:28205997-28206518 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr22:28206519-28207040 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:28217251-28217750 Neighboring gene uncharacterized LOC107985529 Neighboring gene VISTA enhancer hs1271 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr22:28246273-28246791 Neighboring gene MN1 proto-oncogene, transcriptional regulator Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18802 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:28314444-28315429 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:28315430-28316414 Neighboring gene TTC28 antisense RNA 1 Neighboring gene microRNA 3199-1 Neighboring gene microRNA 3199-2 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:28376696-28377276 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:28388821-28389342 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:28389343-28389862 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:28391245-28391744 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:28415419-28415960 Neighboring gene tetratricopeptide repeat domain 28 Neighboring gene RNA, 7SL, cytoplasmic 757, pseudogene

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues 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

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Related articles in PubMed

  1. Phosphatidylinositol- and phosphatidylcholine-transfer activity of PITPbeta is essential for COPI-mediated retrograde transport from the Golgi to the endoplasmic reticulum. Carvou N, et al. J Cell Sci, 2010 Apr 15. PMID 20332109, Free PMC Article
  2. Comparative proteomic analysis of peripheral blood mononuclear cells from atopic dermatitis patients and healthy donors. Kim WK, et al. BMB Rep, 2008 Aug 31. PMID 18755076
  3. Phosphatidylinositol transfer protein beta displays minimal sphingomyelin transfer activity and is not required for biosynthesis and trafficking of sphingomyelin. Ségui B, et al. Biochem J, 2002 Aug 15. PMID 12023904, Free PMC Article
  4. Phospholipid transfer proteins. Wirtz KW. Annu Rev Biochem, 1991. PMID 1883207
  5. Cloning and expression of human cDNA encoding phosphatidylinositol transfer protein beta. Tanaka S, et al. Biochim Biophys Acta, 1995 Dec 7. PMID 8541325

See all (48) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Phosphatidylinositol and phosphatidylcholine exchange activity of PITPbeta is essential for COPI-mediated retrograde transport from the Golgi to the endoplasmic reticulum.
    Title: Phosphatidylinositol- and phosphatidylcholine-transfer activity of PITPbeta is essential for COPI-mediated retrograde transport from the Golgi to the endoplasmic reticulum.
  2. The presence of PITPbeta splice variants adds an extra level of proteome complexity
    Title: Differential expression of a C-terminal splice variant of phosphatidylinositol transfer protein beta lacking the constitutive-phosphorylated Ser262 that localizes to the Golgi compartment.
  3. Role of PITPNB- not required for sphingomyelin trafficking
    Title: Phosphatidylinositol transfer protein beta displays minimal sphingomyelin transfer activity and is not required for biosynthesis and trafficking of sphingomyelin.
Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
A genome-wide association study on obesity and obesity-related traits.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables phosphatidylcholine binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables phosphatidylcholine binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables phosphatidylcholine transfer activity EXP
Inferred from Experiment
more info
 PubMed 
enables phosphatidylcholine transfer activity IMP
Inferred from Mutant Phenotype
more info
 PubMed 
enables phosphatidylcholine transporter activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables phosphatidylcholine transporter activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables phosphatidylinositol binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables phosphatidylinositol binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables phosphatidylinositol transfer activity EXP
Inferred from Experiment
more info
 PubMed 
enables phosphatidylinositol transfer activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables phosphatidylinositol transfer activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables phosphatidylinositol transfer activity IMP
Inferred from Mutant Phenotype
more info
 PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables sphingomyelin transfer activity ISS
Inferred from Sequence or Structural Similarity
more info
  
Process Evidence Code Pubs
involved_in intermembrane lipid transfer IEA
Inferred from Electronic Annotation
more info
  
involved_in lipid metabolic process NAS
Non-traceable Author Statement
more info
 PubMed 
involved_in nucleus organization TAS
Traceable Author Statement
more info
 PubMed 
involved_in phospholipid transport IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in phospholipid transport TAS
Traceable Author Statement
more info
  
involved_in retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum TAS
Traceable Author Statement
more info
 PubMed 
Component Evidence Code Pubs
located_in Golgi apparatus ISS
Inferred from Sequence or Structural Similarity
more info
  
located_in Golgi membrane ISS
Inferred from Sequence or Structural Similarity
more info
  
located_in Golgi membrane TAS
Traceable Author Statement
more info
  
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in endoplasmic reticulum membrane ISS
Inferred from Sequence or Structural Similarity
more info
  
located_in endoplasmic reticulum membrane TAS
Traceable Author Statement
more info
  

General protein information

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

NCBI Reference Sequences (RefSeq)

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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_001284277.2 → NP_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/TrEMBL
    B2R7P6
    Related
    ENSP00000321266.10, ENST00000320996.14
    Conserved Domains (1) summary
    cd08888
    Location:3 → 259
    SRPBCC_PITPNA-B_like; Lipid-binding SRPBCC domain of mammalian PITPNA, -B, and related proteins (Class I PITPs)

  2. NM_001284278.2 → NP_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, AL031591, BC018704, BQ774593, DC313909
    Consensus CDS
    CCDS63432.1
    UniProtKB/TrEMBL
    B2R7P6
    Related
    ENSP00000487693.1, ENST00000634017.1
    Conserved Domains (1) summary
    cd08888
    Location:10 → 261
    SRPBCC_PITPNA-B_like; Lipid-binding SRPBCC domain of mammalian PITPNA, -B, and related proteins (Class I PITPs)

  3. NM_012399.5 → NP_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
    B3KYB8, B7Z7Q0, P48739, Q8N5W1
    UniProtKB/TrEMBL
    B2R7P6
    Related
    ENSP00000334738.5, ENST00000335272.10
    Conserved Domains (1) summary
    cd08888
    Location:3 → 259
    SRPBCC_PITPNA-B_like; Lipid-binding SRPBCC domain of mammalian PITPNA, -B, and related proteins (Class I PITPs)

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000022.11 Reference GRCh38.p14 Primary Assembly

    Range
    27851669..27919256 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011530052.3 → XP_011528354.1  phosphatidylinositol transfer protein beta isoform isoform X1

    UniProtKB/TrEMBL
    B2R7P6
    Conserved Domains (1) summary
    cd08888
    Location:10 → 261
    SRPBCC_PITPNA-B_like; Lipid-binding SRPBCC domain of mammalian PITPNA, -B, and related proteins (Class I PITPs)

  2. XM_047441269.1 → XP_047297225.1  phosphatidylinositol transfer protein beta isoform isoform X2

  3. XM_017028707.2 → XP_016884196.1  phosphatidylinositol transfer protein beta isoform isoform X3

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060946.1 Alternate T2T-CHM13v2.0

    Range
    28313107..28380672 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054325412.1 → XP_054181387.1  phosphatidylinositol transfer protein beta isoform isoform X1

  2. XM_054325413.1 → XP_054181388.1  phosphatidylinositol transfer protein beta isoform isoform X2

  3. XM_054325414.1 → XP_054181389.1  phosphatidylinositol transfer protein beta isoform isoform X3

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P48739.2 GenPept UniProtKB/Swiss-Prot:P48739

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