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Aliases for CHPT1 Gene

Aliases for CHPT1 Gene

  • Choline Phosphotransferase 1 2 3 5
  • Diacylglycerol Cholinephosphotransferase 1 3 4
  • Phosphatidylcholine Synthesizing Enzyme 2 3
  • AAPT1-Like Protein 3 4
  • EC 2.7.8.2 4 63
  • HCPT1 3 4
  • CPT1 3 4
  • Cholinephosphotransferase 1 Alpha 3
  • EC 2.7.8 63
  • CPT 3

External Ids for CHPT1 Gene

Previous GeneCards Identifiers for CHPT1 Gene

  • GC12P101225
  • GC12P102074
  • GC12P100593
  • GC12P099151
  • GC12P102090

Summaries for CHPT1 Gene

GeneCards Summary for CHPT1 Gene

CHPT1 (Choline Phosphotransferase 1) is a Protein Coding gene. Among its related pathways are Metabolism and Lamivudine Pathway, Pharmacokinetics/Pharmacodynamics. GO annotations related to this gene include diacylglycerol binding and diacylglycerol cholinephosphotransferase activity. An important paralog of this gene is CEPT1.

UniProtKB/Swiss-Prot for CHPT1 Gene

  • Catalyzes phosphatidylcholine biosynthesis from CDP-choline. It thereby plays a central role in the formation and maintenance of vesicular membranes.

No data available for Entrez Gene Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CHPT1 Gene

Genomics for CHPT1 Gene

Regulatory Elements for CHPT1 Gene

Promoters for CHPT1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around CHPT1 on UCSC Golden Path with GeneCards custom track

Genomic Location for CHPT1 Gene

Chromosome:
12
Start:
101,696,947 bp from pter
End:
101,744,140 bp from pter
Size:
47,194 bases
Orientation:
Plus strand

Genomic View for CHPT1 Gene

Genes around CHPT1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CHPT1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CHPT1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CHPT1 Gene

Proteins for CHPT1 Gene

  • Protein details for CHPT1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8WUD6-CHPT1_HUMAN
    Recommended name:
    Cholinephosphotransferase 1
    Protein Accession:
    Q8WUD6
    Secondary Accessions:
    • B3KQM2
    • Q7Z7H0
    • Q7Z7H1
    • Q7Z7H2
    • Q8IWQ4
    • Q8IWQ5
    • Q8WYI4
    • Q9NRQ6
    • Q9NRQ7
    • Q9Y6M6

    Protein attributes for CHPT1 Gene

    Size:
    406 amino acids
    Molecular mass:
    45097 Da
    Cofactor:
    Name=Mg(2+); Xref=ChEBI:CHEBI:18420; Name=Mn(2+); Xref=ChEBI:CHEBI:29035;
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAD44019.1; Type=Frameshift; Positions=310; Evidence={ECO:0000305}; Sequence=AAL39005.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for CHPT1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CHPT1 Gene

Proteomics data for CHPT1 Gene at MOPED

Post-translational modifications for CHPT1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for CHPT1 Gene

Domains & Families for CHPT1 Gene

Suggested Antigen Peptide Sequences for CHPT1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q8WUD6

UniProtKB/Swiss-Prot:

CHPT1_HUMAN :
  • Belongs to the CDP-alcohol phosphatidyltransferase class-I family.
Family:
  • Belongs to the CDP-alcohol phosphatidyltransferase class-I family.
genes like me logo Genes that share domains with CHPT1: view

No data available for Gene Families for CHPT1 Gene

Function for CHPT1 Gene

Molecular function for CHPT1 Gene

UniProtKB/Swiss-Prot CatalyticActivity:
CDP-choline + 1,2-diacyl-sn-glycerol = CMP + a phosphatidylcholine.
UniProtKB/Swiss-Prot Function:
Catalyzes phosphatidylcholine biosynthesis from CDP-choline. It thereby plays a central role in the formation and maintenance of vesicular membranes.

Enzyme Numbers (IUBMB) for CHPT1 Gene

Gene Ontology (GO) - Molecular Function for CHPT1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016780 phosphotransferase activity, for other substituted phosphate groups IEA --
GO:0019992 diacylglycerol binding NAS 10893425
genes like me logo Genes that share ontologies with CHPT1: view

Phenotypes for CHPT1 Gene

genes like me logo Genes that share phenotypes with CHPT1: view

Animal Model Products

  • Taconic Biosciences Mouse Models for CHPT1

miRNA for CHPT1 Gene

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for CHPT1 Gene

Localization for CHPT1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CHPT1 Gene

Golgi apparatus membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for CHPT1 Gene COMPARTMENTS Subcellular localization image for CHPT1 gene
Compartment Confidence
golgi apparatus 4
plasma membrane 3
endoplasmic reticulum 2
mitochondrion 1
peroxisome 1

No data available for Gene Ontology (GO) - Cellular Components for CHPT1 Gene

Pathways & Interactions for CHPT1 Gene

genes like me logo Genes that share pathways with CHPT1: view

UniProtKB/Swiss-Prot Q8WUD6-CHPT1_HUMAN

  • Pathway: Phospholipid metabolism; phosphatidylcholine biosynthesis; phosphatidylcholine from phosphocholine: step 2/2.

Interacting Proteins for CHPT1 Gene

Gene Ontology (GO) - Biological Process for CHPT1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001558 regulation of cell growth NAS 10893425
GO:0006656 phosphatidylcholine biosynthetic process TAS --
GO:0006657 CDP-choline pathway NAS 10893425
GO:0006663 platelet activating factor biosynthetic process IDA 10893425
GO:0008654 phospholipid biosynthetic process IEA --
genes like me logo Genes that share ontologies with CHPT1: view

No data available for SIGNOR curated interactions for CHPT1 Gene

Drugs & Compounds for CHPT1 Gene

(10) Drugs for CHPT1 Gene - From: HMDB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Manganese Pharma 32
Magnesium Nutra 0

(23) Additional Compounds for CHPT1 Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Argininosuccinic acid
  • 2-(N(Omega)-L-arginine)succinate
  • 2-(N(Omega)-L-arginine)succinic acid
  • 2-(N(Omega)-L-arginino)succinate
  • 2-(N(Omega)-L-arginino)succinic acid
  • 2-(Nw-L-arginino)butanedioate
2387-71-5
Citicoline
  • Audes
  • CDP-Choline
  • Cereb
  • Choline 5'-cytidine diphosphate
  • Choline cytidine diphosphate
987-78-0
CMP-N-trimethyl-2-aminoethylphosphonate
Cytidine monophosphate
  • 5'-CMP
  • 5-Cytidylate
  • 5-Cytidylic acid
  • CMP
  • Cytidine 5'-monophosphate
63-37-6
Diglycerides Group A
  • 1,2-Dimyristoyl-rac-glycerol
  • DAG(14:0/14:0)
  • DAG(28:0)
  • DG(14:0/14:0)
  • DG(28:0)
genes like me logo Genes that share compounds with CHPT1: view

Transcripts for CHPT1 Gene

Unigene Clusters for CHPT1 Gene

Choline phosphotransferase 1:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for CHPT1 Gene

ExUns: 1 ^ 2a · 2b ^ 3 ^ 4a · 4b ^ 5 ^ 6 ^ 7 ^ 8 ^ 9a · 9b ^ 10 ^ 11a · 11b ^ 12
SP1: - - -
SP2: - -
SP3: -
SP4: - -

Relevant External Links for CHPT1 Gene

GeneLoc Exon Structure for
CHPT1
ECgene alternative splicing isoforms for
CHPT1

Expression for CHPT1 Gene

mRNA expression in normal human tissues for CHPT1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for CHPT1 Gene

This gene is overexpressed in Platelet (51.0) and Liver (11.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for CHPT1 Gene



SOURCE GeneReport for Unigene cluster for CHPT1 Gene Hs.293077

mRNA Expression by UniProt/SwissProt for CHPT1 Gene

Q8WUD6-CHPT1_HUMAN
Tissue specificity: Highly expressed in testis, colon, small intestine, heart, prostate and spleen. Also detected in kidney, skeletal muscle, pancreas, leukocytes, ovary and thymus. Weakly expressed in the brain, placenta and lung. Overexpressed in cancerous breast epithelial cell lines.
genes like me logo Genes that share expression patterns with CHPT1: view

Primer Products

In Situ Assay Products

No data available for mRNA differential expression in normal tissues and Protein tissue co-expression partners for CHPT1 Gene

Orthologs for CHPT1 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for CHPT1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CHPT1 35
  • 99.34 (n)
  • 98.77 (a)
CHPT1 36
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia CHPT1 35
  • 92.98 (n)
  • 91.88 (a)
CHPT1 36
  • 92 (a)
OneToOne
dog
(Canis familiaris)
Mammalia CHPT1 36
  • 77 (a)
OneToOne
CHPT1 35
  • 92.94 (n)
  • 90.64 (a)
mouse
(Mus musculus)
Mammalia Chpt1 16
Chpt1 35
  • 89.39 (n)
  • 89.65 (a)
Chpt1 36
  • 89 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia CHPT1 36
  • 66 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CHPT1 36
  • 79 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Chpt1 35
  • 89.06 (n)
  • 88.54 (a)
chicken
(Gallus gallus)
Aves CHPT1 36
  • 66 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia CHPT1 36
  • 69 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia chpt1 35
  • 66.58 (n)
  • 64.55 (a)
zebrafish
(Danio rerio)
Actinopterygii chpt1 36
  • 63 (a)
OneToOne
chpt1 35
  • 66.21 (n)
  • 65.12 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG6016 37
  • 53 (a)
bbc 36
  • 48 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea cept-1 36
  • 44 (a)
ManyToMany
cept-2 36
  • 38 (a)
ManyToMany
Y49A3A.1 37
  • 43 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes CPT1 36
  • 23 (a)
ManyToMany
EPT1 36
  • 21 (a)
ManyToMany
Species with no ortholog for CHPT1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for CHPT1 Gene

ENSEMBL:
Gene Tree for CHPT1 (if available)
TreeFam:
Gene Tree for CHPT1 (if available)

Paralogs for CHPT1 Gene

Paralogs for CHPT1 Gene

(3) SIMAP similar genes for CHPT1 Gene using alignment to 5 proteins:

genes like me logo Genes that share paralogs with CHPT1: view

Variants for CHPT1 Gene

Sequence variations from dbSNP and Humsavar for CHPT1 Gene

SNP ID Clin Chr 12 pos Sequence Context AA Info Type
rs3205421 - 101,714,567(+) TTTTT(C/T)CTGCT nc-transcript-variant, reference, missense, utr-variant-5-prime
VAR_032613 -
rs222505 -- 101,722,591(+) ctctc(C/G/T)cctgt intron-variant
rs222506 -- 101,722,698(+) AAAAC(A/C)CAAAA intron-variant
rs222507 -- 101,725,095(+) TTAGA(G/T)TTGGA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for CHPT1 Gene

Variant ID Type Subtype PubMed ID
nsv832497 CNV Gain 17160897
nsv859 CNV Loss 18451855
esv2566252 CNV Deletion 19546169
nsv435634 CNV Deletion 17901297
esv2746280 CNV Deletion 23290073
esv9053 CNV Loss 19470904
esv2664879 CNV Deletion 23128226
nsv498804 CNV Loss 21111241
nsv826502 CNV Loss 20364138
dgv308n67 CNV Loss 20364138
esv21962 CNV Loss 19812545
nsv514642 CNV Loss 21397061
nsv860 CNV Loss 18451855

Variation tolerance for CHPT1 Gene

Residual Variation Intolerance Score: 51.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 10.34; 90.76% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for CHPT1 Gene

HapMap Linkage Disequilibrium report
CHPT1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CHPT1 Gene

Disorders for CHPT1 Gene

Relevant External Links for CHPT1

Genetic Association Database (GAD)
CHPT1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CHPT1

No disorders were found for CHPT1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for CHPT1 Gene

Publications for CHPT1 Gene

  1. Cloning, genomic organization, and characterization of a human cholinephosphotransferase. (PMID: 10893425) Henneberry A.L. … McMaster C.R. (J. Biol. Chem. 2000) 2 3 4 23 67
  2. Modulation of cholinephosphotransferase activity in breast cancer cell lines by Ro5-4864, a peripheral benzodiazepine receptor agonist. (PMID: 15936720) Akech J. … Das S.K. (Biochem. Biophys. Res. Commun. 2005) 3 23
  3. Differential expression of cholinephosphotransferase in normal and cancerous human mammary epithelial cells. (PMID: 12359261) Ghosh A. … Das S.K. (Biochem. Biophys. Res. Commun. 2002) 3 23
  4. The relation of diet with PAF and its metabolic enzymes in healthy volunteers. (PMID: 24639073) Detopoulou P. … Antonopoulou S. (Eur J Nutr 2015) 3
  5. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3

Products for CHPT1 Gene

Sources for CHPT1 Gene

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