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CHPT1 choline phosphotransferase 1 [ Homo sapiens (human) ]

Gene ID: 56994, updated on 3-Apr-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. 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
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Genomic context

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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

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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. Aberrant activation of super enhancer and choline metabolism drive antiandrogen therapy resistance in prostate cancer. Wen S, et al. Oncogene, 2020 Oct. PMID 32917955
  2. The relation of diet with PAF and its metabolic enzymes in healthy volunteers. Detopoulou P, et al. Eur J Nutr, 2015 Feb. PMID 24639073
  3. 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
  4. 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
  5. Genetic Polymorphisms of LPCAT1, CHPT1 and PCYT1B and Risk of Neonatal Respiratory Distress Syndrome among a Chinese Han Population. Shen W, et al. Pediatr Neonatol, 2020 Jun. PMID 31964590

See all (27) 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)

Genotypes

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
  
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_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_011538574.2 → 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

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

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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