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PCTP phosphatidylcholine transfer protein [ Homo sapiens (human) ]

Gene ID: 58488, updated on 5-Mar-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, Apr 2022]
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_2023_10 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (55751051..55852715)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (56627170..56721145)
105.20220307 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. Influences of the phosphatidylcholine transfer protein gene variants on the LDL peak particle size. Dolley G, et al. Atherosclerosis, 2007 Dec. PMID 17266964
  4. Human phosphatidylcholine transfer protein: purification, crystallization and preliminary X-ray diffraction data. Chan WW, et al. Biochim Biophys Acta, 2002 Apr 1. PMID 11983415
  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)

Genotypes

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_2023_10

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

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