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

    Gene ID: 23760, updated on 27-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
    mouse all
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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
    • 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)

    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

    Gene LinkOut

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