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CHPT1 choline phosphotransferase 1 [ Homo sapiens (human) ]

Gene ID: 56994, updated on 27-Nov-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. 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
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Genomic context

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

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
 
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

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_020244.3NP_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_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_011538574.2XP_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

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

RNA

  1. XR_008488643.1 RNA Sequence

  2. XR_008488644.1 RNA Sequence