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    CHPT1 choline phosphotransferase 1 [ Homo sapiens (human) ]

    Gene ID: 56994, updated on 17-Jun-2024

    Summary

    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. Predicted to be located in Golgi membrane. Predicted to be active in Golgi apparatus and endoplasmic reticulum membrane. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Ubiquitous expression in testis (RPKM 11.8), duodenum (RPKM 11.3) and 25 other tissues See more
    Orthologs
    NEW
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    Try the new Transcript table

    Genomic context

    See CHPT1 in Genome Data Viewer
    Location:
    12q23.2
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (101697640..101729074)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (101658866..101690301)
    105.20220307 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

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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 
    Component Evidence Code Pubs
    is_active_in Golgi apparatus IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    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

    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)

    NEW Try the new Transcript table

    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_020244.3NP_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:25337
      CDP-OH_P_transf; CDP-alcohol phosphatidyltransferase

    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_000012.12 Reference GRCh38.p14 Primary Assembly

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

    mRNA and Protein(s)

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

      UniProtKB/TrEMBL
      F8W1B3
      Conserved Domains (1) summary
      cl00453
      Location:25213
      CDP-OH_P_transf; CDP-alcohol phosphatidyltransferase
    2. XM_011538575.2XP_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_054372603.1XP_054228578.1  cholinephosphotransferase 1 isoform X1

      UniProtKB/TrEMBL
      F8W1B3
    2. XM_054372604.1XP_054228579.1  cholinephosphotransferase 1 isoform X2

      UniProtKB/TrEMBL
      B3KS85

    RNA

    1. XR_008488643.1 RNA Sequence

    2. XR_008488644.1 RNA Sequence