CHPT1 choline phosphotransferase 1 [Homo sapiens (human)] - Gene

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. Is active in Golgi membrane. [provided by Alliance of Genome Resources, Nov 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

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_000012.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues 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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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.
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.

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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)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH44831 (e-PCR)
- UniSTS:3096

WI-14986 (e-PCR)
- UniSTS:46931

SHGC-172036 (e-PCR)
- UniSTS:182633

WI-20671 (e-PCR)
- UniSTS:79729

D15S1477 (e-PCR)
- UniSTS:474482

D1S1423 (e-PCR)
- UniSTS:149619

D11S3114 (e-PCR)
- UniSTS:152207

RH77822 (e-PCR)
- UniSTS:7856

G31467 (e-PCR)
- UniSTS:48565

RH102909 (e-PCR)
- UniSTS:97243

STS-R44048 (e-PCR)
- UniSTS:58847

RH119915 (e-PCR)
- UniSTS:133116

SYCP3_9645 (e-PCR)
- UniSTS:468732

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

EC 2.7.8.2

XP_011536876.1

EC 2.7.8.2

XP_011536877.1

EC 2.7.8.2

XP_054228578.1

EC 2.7.8.2

XP_054228579.1

EC 2.7.8.2

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)

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

NC_000012.12 Reference GRCh38.p14 Primary Assembly

Range

101697640..101729074

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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
XM_011538575.2 → XP_011536877.1 cholinephosphotransferase 1 isoform X2

UniProtKB/TrEMBL

B3KS85