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    CHPT1 choline phosphotransferase 1 [ Homo sapiens (human) ]

    Gene ID: 56994, updated on 10-Dec-2024

    Summary

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    Official Symbol
    CHPT1provided by HGNC
    Official Full Name
    choline phosphotransferase 1provided by HGNC
    Primary source
    HGNC:HGNC:17852
    See related
    Ensembl:ENSG00000111666 MIM:616747; AllianceGenome:HGNC:17852
    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
    CPT; CPT1
    Summary
    Enables diacylglycerol cholinephosphotransferase activity. Involved in phosphatidylcholine biosynthetic process and platelet activating factor biosynthetic process. Is active in Golgi membrane. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Ubiquitous expression in testis (RPKM 11.8), duodenum (RPKM 11.3) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See CHPT1 in Genome Data Viewer
    Location:
    12q23.2
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (101697640..101729074)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (101658866..101690301)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (102091418..102122852)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene myosin binding protein C1 Neighboring gene uncharacterized LOC105369937 Neighboring gene uncharacterized LOC124902996 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6864 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4769 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4770 Neighboring gene RNY1 pseudogene 16 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6865 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6866 Neighboring gene uncharacterized LOC124902997 Neighboring gene synaptonemal complex protein 3 Neighboring gene N-acetylglucosamine-1-phosphate transferase subunits alpha and beta Neighboring gene RNA, U6 small nuclear 101, 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. The relation of diet with PAF and its metabolic enzymes in healthy volunteers. Detopoulou P, et al. Eur J Nutr, 2015 Feb. PMID 24639073
    2. Aberrant activation of super enhancer and choline metabolism drive antiandrogen therapy resistance in prostate cancer. Wen S, et al. Oncogene, 2020 Oct. PMID 32917955
    3. Differential expression of cholinephosphotransferase in normal and cancerous human mammary epithelial cells. Ghosh A, et al. Biochem Biophys Res Commun, 2002 Oct 4. PMID 12359261
    4. Modulation of cholinephosphotransferase activity in breast cancer cell lines by Ro5-4864, a peripheral benzodiazepine receptor agonist. Akech J, et al. Biochem Biophys Res Commun, 2005 Jul 22. PMID 15936720
    5. The major sites of cellular phospholipid synthesis and molecular determinants of Fatty Acid and lipid head group specificity. Henneberry AL, et al. Mol Biol Cell, 2002 Sep. PMID 12221122, Free PMC Article

    See all (32) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Genetic Polymorphisms of LPCAT1, CHPT1 and PCYT1B and Risk of Neonatal Respiratory Distress Syndrome among a Chinese Han Population.
      Title: Genetic Polymorphisms of LPCAT1, CHPT1 and PCYT1B and Risk of Neonatal Respiratory Distress Syndrome among a Chinese Han Population.
    2. Aberrant activation of super enhancer and choline metabolism drive antiandrogen therapy resistance in prostate cancer.
      Title: Aberrant activation of super enhancer and choline metabolism drive antiandrogen therapy resistance in prostate cancer.
    3. Data suggest that PAF-CPT level in blood can be altered by diet; up-regulation of PAF-CPT is associated with diets high in fat and cholesterol; down-regulation of PAF-CPT is associated with healthy diet patterns of the population studied in Greece.
      Title: The relation of diet with PAF and its metabolic enzymes in healthy volunteers.
    4. Furthermore, the activity of CPT in forming PC is increased in the breast cancer cell lines cultured for 24 h.
      Title: Modulation of cholinephosphotransferase activity in breast cancer cell lines by Ro5-4864, a peripheral benzodiazepine receptor agonist.
    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

    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 diacylglycerol binding NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    enables diacylglycerol cholinephosphotransferase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables diacylglycerol cholinephosphotransferase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in CDP-choline pathway NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in lipid metabolic process TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in phosphatidylcholine biosynthetic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in platelet activating factor biosynthetic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in regulation of cell growth NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    Component Evidence Code Pubs
    is_active_in Golgi apparatus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    is_active_in Golgi membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in Golgi membrane TAS
    Traceable Author Statement
    more info
    		  
    is_active_in endoplasmic reticulum membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in intracellular membrane-bounded organelle NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    located_in membrane NAS
    Non-traceable Author Statement
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    cholinephosphotransferase 1
    Names
    AAPT1-like protein
    cholinephosphotransferase 1 alpha
    diacylglycerol cholinephosphotransferase 1
    hCPT1
    phosphatidylcholine synthesizing enzyme
    NP_064629.2
    XP_011536876.1
    XP_011536877.1
    XP_054228578.1
    XP_054228579.1

    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_020244.3 → NP_064629.2  cholinephosphotransferase 1

      See identical proteins and their annotated locations for NP_064629.2

      Status: VALIDATED

      Source sequence(s)
      AC063950, BC050429, CD300296
      Consensus CDS
      CCDS9086.1
      UniProtKB/Swiss-Prot
      B3KQM2, Q7Z7H0, Q7Z7H1, Q7Z7H2, Q8IWQ4, Q8IWQ5, Q8WUD6, Q8WYI4, Q9NRQ6, Q9NRQ7, Q9Y6M6
      UniProtKB/TrEMBL
      F8W1B3
      Related
      ENSP00000229266.3, ENST00000229266.8
      Conserved Domains (1) summary
      cl00453
      Location:25 → 337
      CDP-OH_P_transf; CDP-alcohol phosphatidyltransferase

    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_000012.12 Reference GRCh38.p14 Primary Assembly

      Range
      101697640..101729074
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011538574.2 → XP_011536876.1  cholinephosphotransferase 1 isoform X1

      UniProtKB/TrEMBL
      F8W1B3
      Conserved Domains (1) summary
      cl00453
      Location:25 → 213
      CDP-OH_P_transf; CDP-alcohol phosphatidyltransferase

    2. XM_011538575.2 → XP_011536877.1  cholinephosphotransferase 1 isoform X2

      UniProtKB/TrEMBL
      B3KS85

    RNA

    1. XR_245946.3 RNA Sequence

      Related
      ENST00000552351.5

    2. XR_001748818.2 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060936.1 Alternate T2T-CHM13v2.0

      Range
      101658866..101690301
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054372603.1 → XP_054228578.1  cholinephosphotransferase 1 isoform X1

      UniProtKB/TrEMBL
      F8W1B3

    2. XM_054372604.1 → XP_054228579.1  cholinephosphotransferase 1 isoform X2

      UniProtKB/TrEMBL
      B3KS85

    RNA

    1. XR_008488643.1 RNA Sequence

    2. XR_008488644.1 RNA Sequence

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8WUD6.1 GenPept UniProtKB/Swiss-Prot:Q8WUD6

    Gene LinkOut

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

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