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    PCTP phosphatidylcholine transfer protein [ Homo sapiens (human) ]

    Gene ID: 58488, updated on 26-Nov-2024

    Summary

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    Official Symbol
    PCTPprovided by HGNC
    Official Full Name
    phosphatidylcholine transfer proteinprovided by HGNC
    Primary source
    HGNC:HGNC:8752
    See related
    Ensembl:ENSG00000141179 MIM:606055; AllianceGenome:HGNC:8752
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    PC-TP; STARD2
    Summary
    Enables phosphatidylcholine binding activity and phosphatidylcholine transporter activity. Involved in phospholipid transport. Predicted to be located in cytosol. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in liver (RPKM 9.3), placenta (RPKM 5.2) and 24 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See PCTP in Genome Data Viewer
    Location:
    17q22
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (55751051..55852715)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (56627170..56721145)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (53828412..53900498)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124904099 Neighboring gene CRISPRi-validated cis-regulatory element chr17.3823 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8736 Neighboring gene Sharpr-MPRA regulatory region 14534 Neighboring gene transmembrane protein 100 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr17:53947369-53947962 Neighboring gene ReSE screen-validated silencer GRCh37_chr17:54047027-54047211 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr17:54047308-54047999 Neighboring gene ReSE screen-validated silencer GRCh37_chr17:54066616-54066826 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr17:54067571-54068181 Neighboring gene ankyrin repeat and fibronectin type III domain containing 1 Neighboring gene ReSE screen-validated silencer GRCh37_chr17:54234389-54234595 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr17:54299024-54300223 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr17:54307079-54307689 Neighboring gene uncharacterized LOC124904035 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr17:54436362-54437561 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8737 Neighboring gene uncharacterized LOC112268194

    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. PCTP contributes to human platelet activation by enhancing dense granule secretion. Abraham S, et al. Thromb Res, 2021 Jun. PMID 33770537
    2. Identification of a functional genetic variant driving racially dimorphic platelet gene expression of the thrombin receptor regulator, PCTP. Kong X, et al. Thromb Haemost, 2017 May 3. PMID 28251237, Free PMC Article
    3. Human phosphatidylcholine transfer protein: purification, crystallization and preliminary X-ray diffraction data. Chan WW, et al. Biochim Biophys Acta, 2002 Apr 1. PMID 11983415
    4. Influences of the phosphatidylcholine transfer protein gene variants on the LDL peak particle size. Dolley G, et al. Atherosclerosis, 2007 Dec. PMID 17266964
    5. Structure of human phosphatidylcholine transfer protein in complex with its ligand. Roderick SL, et al. Nat Struct Biol, 2002 Jul. PMID 12055623

    See all (26) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. PCTP contributes to human platelet activation by enhancing dense granule secretion.
      Title: PCTP contributes to human platelet activation by enhancing dense granule secretion.
    2. Identified the variant rs2912553 as contributing to racially differential expression of PCTP.
      Title: Identification of a functional genetic variant driving racially dimorphic platelet gene expression of the thrombin receptor regulator, PCTP.
    3. Mutations in PCTP gene is associated with prostate cancer
      Title: Searching for candidate genes in familial BRCAX mutation carriers with prostate cancer.
    4. PC-TP contributes to the racial difference in PAR4-mediated platelet activation.
      Title: Racial differences in human platelet PAR4 reactivity reflect expression of PCTP and miR-376c.
    5. Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Polymorphisms in innate immunity genes and lung cancer risk in Xuanwei, China.
    6. Observational study of gene-disease association. (HuGE Navigator)
      Title: Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
    7. phosphatidylcholine transfer protein gene variants are associated with LDL-peak particle size
      Title: Influences of the phosphatidylcholine transfer protein gene variants on the LDL peak particle size.
    8. Yeast two-hybrid screening using libraries prepared from mouse liver and embryo identified Them2 (thioesterase superfamily member 2) and the homeodomain transcription factor Pax3 (paired box gene 3), respectively, as PC-TP-interacting proteins.
      Title: Interacting proteins dictate function of the minimal START domain phosphatidylcholine transfer protein/StarD2.
    9. crystal structures of human PC-TP in complex with dilinoleoyl-PtdCho or palmitoyl-linoleoyl-PtdCho reveal that a single well-ordered PtdCho molecule occupies a centrally located tunnel
      Title: Structure of human phosphatidylcholine transfer protein in complex with its ligand.
    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
    Genome-wide association study of body height in African Americans: the Women's Health Initiative SNP Health Association Resource (SHARe).
    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)

    HIV-1 interactions

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    Replication interactions

    Interaction Pubs
    Knockdown of phosphatidylcholine transfer protein (PCTP) by siRNA inhibits HIV-1 replication in HeLa P4/R5 cells PubMed

    Go to the HIV-1, Human Interaction Database

    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 transporter activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables phosphatidylcholine transporter activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables phosphatidylcholine transporter activity TAS
    Traceable Author Statement
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in lipid transport NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in negative regulation of cold-induced thermogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
    		 PubMed 
    involved_in phospholipid transport IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in cytosol NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    located_in cytosol TAS
    Traceable Author Statement
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    phosphatidylcholine transfer protein
    Names
    START domain-containing protein 2
    StAR-related lipid transfer (START) domain containing 2
    stAR-related lipid transfer protein 2

    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_001102402.3 → NP_001095872.1  phosphatidylcholine transfer protein isoform 2

      See identical proteins and their annotated locations for NP_001095872.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) contains an alternate exon in the 5' coding region and uses a downstream start codon, compared to variant 1. Isoform 2 has a shorter N-terminus, compared to isoform 1.
      Source sequence(s)
      AC009837, AC091155, AK058120, BC012084, BM549250, BX648199
      Consensus CDS
      CCDS45741.1
      UniProtKB/Swiss-Prot
      Q9UKL6
      Related
      ENSP00000325181.5, ENST00000325214.10
      Conserved Domains (1) summary
      cl14643
      Location:1 → 138
      SRPBCC; START/RHO_alpha_C/PITP/Bet_v1/CoxG/CalC (SRPBCC) ligand-binding domain superfamily

    2. NM_001330377.2 → NP_001317306.1  phosphatidylcholine transfer protein isoform 3

      Status: VALIDATED

      Source sequence(s)
      AC009837, AC091155
      Consensus CDS
      CCDS82165.1
      UniProtKB/TrEMBL
      I3L2M9
      Related
      ENSP00000459793.1, ENST00000576183.5
      Conserved Domains (1) summary
      cl14643
      Location:4 → 195
      SRPBCC; START/RHO_alpha_C/PITP/Bet_v1/CoxG/CalC (SRPBCC) ligand-binding domain superfamily

    3. NM_001330378.3 → NP_001317307.1  phosphatidylcholine transfer protein isoform 4

      Status: VALIDATED

      Source sequence(s)
      AC090618, AF151638, AW298344, AW369326, BE245218, BM907258
      Consensus CDS
      CCDS82166.1
      UniProtKB/TrEMBL
      I3L3H0
      Related
      ENSP00000460437.1, ENST00000573500.5
      Conserved Domains (1) summary
      cd08910
      Location:4 → 194
      START_STARD2-like; Lipid-binding START domain of mammalian STARD2 and related proteins

    4. NM_021213.4 → NP_067036.2  phosphatidylcholine transfer protein isoform 1

      See identical proteins and their annotated locations for NP_067036.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (1).
      Source sequence(s)
      AC009837, AC091155, BC012084, BM153142, BX648199
      Consensus CDS
      CCDS11588.1
      UniProtKB/Swiss-Prot
      Q9BSC9, Q9UIT3, Q9UKL6, Q9UKW7
      UniProtKB/TrEMBL
      Q549N3
      Related
      ENSP00000268896.4, ENST00000268896.10
      Conserved Domains (1) summary
      cd08910
      Location:4 → 210
      START_STARD2-like; Lipid-binding START domain of mammalian STARD2 and related proteins

    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_000017.11 Reference GRCh38.p14 Primary Assembly

      Range
      55751051..55852715
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047436500.1 → XP_047292456.1  phosphatidylcholine transfer protein isoform X1

      UniProtKB/TrEMBL
      I3L3H0

    2. XM_047436502.1 → XP_047292458.1  phosphatidylcholine transfer protein isoform X2

    3. XM_047436499.1 → XP_047292455.1  phosphatidylcholine transfer protein isoform X1

      UniProtKB/TrEMBL
      I3L3H0

    4. XM_047436501.1 → XP_047292457.1  phosphatidylcholine transfer protein isoform X1

      UniProtKB/TrEMBL
      I3L3H0

    5. XM_017024913.2 → XP_016880402.1  phosphatidylcholine transfer protein isoform X4

    6. XM_047436504.1 → XP_047292460.1  phosphatidylcholine transfer protein isoform X3

    7. XM_047436503.1 → XP_047292459.1  phosphatidylcholine transfer protein isoform X2

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060941.1 Alternate T2T-CHM13v2.0

      Range
      56627170..56721145
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054316827.1 → XP_054172802.1  phosphatidylcholine transfer protein isoform X2

    2. XM_054316829.1 → XP_054172804.1  phosphatidylcholine transfer protein isoform X4

    3. XM_054316828.1 → XP_054172803.1  phosphatidylcholine transfer protein isoform X3

    RNA

    1. XR_008484868.1 RNA Sequence

    2. XR_008484869.1 RNA Sequence

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9UKL6.1 GenPept UniProtKB/Swiss-Prot:Q9UKL6

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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