Aliases for CHPT1 Gene

Aliases for CHPT1 Gene

  • Choline Phosphotransferase 1 2 3 5
  • CPT1 2 3 4
  • Diacylglycerol Cholinephosphotransferase 1 3 4
  • Phosphatidylcholine Synthesizing Enzyme 2 3
  • Cholinephosphotransferase 1 3 4
  • AAPT1-Like Protein 3 4
  • EC 4 50
  • HCPT1 3 4
  • Cholinephosphotransferase 1 Alpha 3
  • EC 2.7.8 50
  • CHPT1 5
  • 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. Diseases associated with CHPT1 include Mucolipidoses and Mucolipidosis Ii Alpha/Beta. Among its related pathways are Glycerophospholipid biosynthesis and Metabolism. Gene Ontology (GO) annotations related to this gene include diacylglycerol binding and diacylglycerol cholinephosphotransferase activity. An important paralog of this gene is CEPT1.

UniProtKB/Swiss-Prot Summary 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 , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for CHPT1 Gene

Genomics for CHPT1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for CHPT1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CHPT1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for CHPT1

Top Transcription factor binding sites by QIAGEN in the CHPT1 gene promoter:
  • aMEF-2
  • AML1a
  • ARP-1
  • Cdc5
  • MEF-2A
  • Msx-1
  • S8
  • SREBP-1a
  • SREBP-1b
  • SREBP-1c

Genomic Locations for CHPT1 Gene

Latest Assembly
55,092 bases
Plus strand

Previous Assembly
(GRCh37/hg19 by Entrez Gene)
31,435 bases
Plus strand

(GRCh37/hg19 by Ensembl)
47,194 bases
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:
    Recommended name:
    Cholinephosphotransferase 1
    Protein Accession:
    Secondary Accessions:
    • B3KQM2
    • Q7Z7H0
    • Q7Z7H1
    • Q7Z7H2
    • Q8IWQ4
    • Q8IWQ5
    • Q8WYI4
    • Q9NRQ6
    • Q9NRQ7
    • Q9Y6M6

    Protein attributes for CHPT1 Gene

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

    Alternative splice isoforms for CHPT1 Gene


neXtProt entry for CHPT1 Gene

Selected DME Specific Peptides for CHPT1 Gene


Post-translational modifications for CHPT1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Antibodies for research

  • Santa Cruz Biotechnology (SCBT) Antibodies for CHPT1

Domains & Families for CHPT1 Gene

Gene Families for CHPT1 Gene

Human Protein Atlas (HPA):
  • Enzymes
  • Predicted membrane proteins

Protein Domains for CHPT1 Gene

  • CDP-alcohol phosphatidyltransferase
  • 2-oxo acid dehydrogenase, acyltransferase component, lipoyl-binding

Suggested Antigen Peptide Sequences for CHPT1 Gene

GenScript: Design optimal peptide antigens:
  • Diacylglycerol cholinephosphotransferase 1 (CHPT1_HUMAN)

Graphical View of Domain Structure for InterPro Entry



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

Function for CHPT1 Gene

Molecular function for CHPT1 Gene

UniProtKB/Swiss-Prot Function:
Catalyzes phosphatidylcholine biosynthesis from CDP-choline. It thereby plays a central role in the formation and maintenance of vesicular membranes.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=a 1,2-diacyl-sn-glycerol + CDP-choline = a 1,2-diacyl-sn-glycero-3-phosphocholine + CMP + H(+); Xref=Rhea:RHEA:32939, ChEBI:CHEBI:15378, ChEBI:CHEBI:17815, ChEBI:CHEBI:57643, ChEBI:CHEBI:58779, ChEBI:CHEBI:60377; EC=; Evidence={ECO:0000269|PubMed:10893425};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=1-octadecanoyl-2-(5Z,8Z,11Z,14Z-eicosatetraenoyl)-sn-glycerol + CDP-choline = 1-octadecanoyl-2-(5Z,8Z,11Z,14Z-eicosatetraenoyl)-sn-glycero-3-phosphocholine + CMP + H(+); Xref=Rhea:RHEA:54344, ChEBI:CHEBI:15378, ChEBI:CHEBI:58779, ChEBI:CHEBI:60377, ChEBI:CHEBI:74965, ChEBI:CHEBI:75728; Evidence={ECO:0000269|PubMed:10893425};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=1-hexadecanoyl-2-(9Z-octadecenoyl)-sn-glycerol + CDP-choline = 1-hexadecanoyl-2-(9Z-octadecenoyl)-sn-glycero-3-phosphocholine + CMP + H(+); Xref=Rhea:RHEA:54244, ChEBI:CHEBI:15378, ChEBI:CHEBI:58779, ChEBI:CHEBI:60377, ChEBI:CHEBI:73001, ChEBI:CHEBI:75466; Evidence={ECO:0000269|PubMed:10893425};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=1-hexadecanoyl-2-(4Z,7Z,10Z,13Z,16Z,19Z-docosahexaenoyl)-sn-glycerol + CDP-choline = 1-hexadecanoyl-2-(4Z,7Z,10Z,13Z,16Z,19Z-docosahexaenoyl)-sn-glycero-3-phosphocholine + CMP + H(+); Xref=Rhea:RHEA:54332, ChEBI:CHEBI:15378, ChEBI:CHEBI:58779, ChEBI:CHEBI:60377, ChEBI:CHEBI:74963, ChEBI:CHEBI:82949; Evidence={ECO:0000269|PubMed:10893425};.

Enzyme Numbers (IUBMB) for CHPT1 Gene

Phenotypes From GWAS Catalog for CHPT1 Gene

Gene Ontology (GO) - Molecular Function for CHPT1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004142 diacylglycerol cholinephosphotransferase activity IBA,IDA 10893425
GO:0005515 protein binding IPI 32296183
GO:0016740 transferase activity IEA --
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
genes like me logo Genes that share phenotypes with CHPT1: view

Animal Models for CHPT1 Gene

MGI Knock Outs for CHPT1:
  • Chpt1 Chpt1<tm1b(EUCOMM)Wtsi>

Animal Models for research

  • Taconic Biosciences Mouse Models for CHPT1

miRNA for CHPT1 Gene

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CHPT1

No data available for Human Phenotype Ontology , 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

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CHPT1 gene
Compartment Confidence
golgi apparatus 4
plasma membrane 3
mitochondrion 2
endoplasmic reticulum 2
extracellular 1
cytoskeleton 1
peroxisome 1
nucleus 1
cytosol 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for CHPT1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000139 Golgi membrane TAS --
GO:0005789 endoplasmic reticulum membrane IBA 21873635
GO:0005794 Golgi apparatus IBA 21873635
GO:0016020 membrane IEA,NAS 10893425
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with CHPT1: view

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.

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:0006629 lipid metabolic process TAS 10893425
GO:0006656 phosphatidylcholine biosynthetic process TAS --
GO:0006657 CDP-choline pathway NAS 10893425
GO:0006663 platelet activating factor biosynthetic process IDA 10893425
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

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Citicoline Approved, Experimental Pharma 0
Magnesium Approved, Experimental, Investigational Pharma 0
Manganese Approved Nutra 65
Cytidine monophosphate Experimental Pharma 0
L-Dilinoleoyllecithin Experimental Pharma 0

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Argininosuccinic acid
  • 2-(Nomega-L-arginino)succinate
  • L-Argininosuccinate
  • L-Argininosuccinic acid
  • L-Arginosuccinic acid
  • 2-(Nomega-L-arginino)succinic acid
  • 1-Palmityl-2-palmitoleoyl-sn-glycero-3-phosphocholine
  • Gpcho(16:0/16:1)
  • Gpcho(16:0/16:1n7)
  • Gpcho(16:0/16:1W7)
  • Gpcho(32:1)
  • 1-Tetradecanoyl-2-octadecanoyl-sn-glycero-3-phosphocholine
  • GPCho(14:0/18:0)
  • Phosphatidylcholine(14:0/18:0)
  • 1-Myristoyl-2-stearoylphosphatidylcholine
  • 1m-2S-PC
  • CMP-2-Trimethylaminoethylphosphonate
  • CMP-2-Trimethylaminoethylphosphonic acid
  • CMP-N-Trimethyl-2-aminoethylphosphonic acid
  • 1-Palmitoyl-2-lignoceroyl-sn-glycerol
  • DAG(16:0/24:0)
  • DAG(40:0)
  • DG(16:0/24:0)
  • DG(40:0)
genes like me logo Genes that share compounds with CHPT1: view

Transcripts for CHPT1 Gene

mRNA/cDNA for CHPT1 Gene

15 NCBI additional mRNA sequence :
10 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CHPT1

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

Expression for CHPT1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE 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, MaxQB, and MOPED for CHPT1 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for CHPT1

SOURCE GeneReport for Unigene cluster for CHPT1 Gene:


mRNA Expression by UniProt/SwissProt for CHPT1 Gene:

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.

Evidence on tissue expression from TISSUES for CHPT1 Gene

  • Nervous system(4.7)
  • Heart(4.4)
  • Liver(2.7)
  • Muscle(2.4)
  • Kidney(2.2)
genes like me logo Genes that share expression patterns with CHPT1: view

Primer products for research

No data available for mRNA differential expression in normal tissues , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer 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
(Pan troglodytes)
Mammalia CHPT1 29 30
  • 99.34 (n)
(Bos Taurus)
Mammalia CHPT1 29 30
  • 92.98 (n)
(Canis familiaris)
Mammalia CHPT1 29 30
  • 92.94 (n)
(Mus musculus)
Mammalia Chpt1 29 16 30
  • 89.39 (n)
(Rattus norvegicus)
Mammalia Chpt1 29
  • 89.06 (n)
(Ornithorhynchus anatinus)
Mammalia CHPT1 30
  • 79 (a)
(Monodelphis domestica)
Mammalia CHPT1 30
  • 66 (a)
(Gallus gallus)
Aves CHPT1 30
  • 66 (a)
(Anolis carolinensis)
Reptilia CHPT1 30
  • 69 (a)
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia chpt1 29
  • 66.58 (n)
(Danio rerio)
Actinopterygii chpt1 29 30
  • 66.21 (n)
Fruit Fly
(Drosophila melanogaster)
Insecta CG6016 31
  • 53 (a)
bbc 30
  • 48 (a)
(Caenorhabditis elegans)
Secernentea cept-1 30
  • 44 (a)
Y49A3A.1 31
  • 43 (a)
cept-2 30
  • 38 (a)
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes CPT1 30
  • 23 (a)
EPT1 30
  • 21 (a)
Species where no ortholog for CHPT1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (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

Gene Tree for CHPT1 (if available)
Gene Tree for CHPT1 (if available)
Evolutionary constrained regions (ECRs) for CHPT1: view image
Alliance of Genome Resources:
Additional Orthologs for CHPT1

Paralogs for CHPT1 Gene

Paralogs for CHPT1 Gene

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

  • F8W1B3_HUMAN
  • H0YI24_HUMAN
  • H0YI84_HUMAN
genes like me logo Genes that share paralogs with CHPT1: view

Variants for CHPT1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for CHPT1 Gene

SNP ID Clinical significance and condition Chr 12 pos Variation AA Info Type
1034035 Pathogenic: Mucolipidosis type II 101,747,159(+) ATCT/A
NM_024312.5(GNPTAB):c.3770AGA[1] (p.Ter1257=)
869113 Uncertain Significance: Male infertility 101,735,039(+) T/G
NM_001177949.2(SYCP3):c.241A>C (p.Ile81Leu)
880979 Likely Benign: Spermatogenic failure 4 101,737,856(+) A/G
NM_001177949.2(SYCP3):c.80T>C (p.Phe27Ser)
880980 Benign: Spermatogenic failure 4 101,737,877(+) T/C
NM_001177949.2(SYCP3):c.59A>G (p.Gln20Arg)
880981 Uncertain Significance: Spermatogenic failure 4 101,737,908(+) T/A
NM_001177949.2(SYCP3):c.28A>T (p.Arg10Trp)

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for CHPT1 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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

Variant ID Type Subtype PubMed ID
dgv2834n54 CNV loss 21841781
dgv2835n54 CNV loss 21841781
dgv2836n54 CNV loss 21841781
dgv2837n54 CNV loss 21841781
dgv2838n54 CNV loss 21841781
dgv308n67 CNV loss 20364138
dgv87e215 CNV deletion 23714750
esv21962 CNV loss 19812545
esv2566252 CNV deletion 19546169
esv2664879 CNV deletion 23128226
esv2746280 CNV deletion 23290073
esv3630579 CNV loss 21293372
esv9053 CNV loss 19470904
nsv1069479 CNV deletion 25765185
nsv435634 CNV deletion 17901297
nsv498804 CNV loss 21111241
nsv514642 CNV loss 21397061
nsv560006 CNV loss 21841781
nsv560007 CNV loss 21841781
nsv560014 CNV loss 21841781
nsv560028 CNV loss 21841781
nsv826502 CNV loss 20364138
nsv832497 CNV gain 17160897
nsv859 CNV deletion 18451855
nsv860 CNV deletion 18451855
nsv977144 CNV duplication 23825009

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)

Additional Variant Information for CHPT1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
Leiden Open Variation Database (LOVD)

SNP Genotyping and Copy Number Assays for research

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

Disorders for CHPT1 Gene

MalaCards: The human disease database

(7) MalaCards diseases for CHPT1 Gene - From: CVR, COP, and GCD

- elite association - COSMIC cancer census association via MalaCards
Search CHPT1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for CHPT1

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

No data available for 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 AL … McMaster CR (The Journal of biological chemistry 2000) 2 3 4 22
  2. Differential expression of cholinephosphotransferase in normal and cancerous human mammary epithelial cells. (PMID: 12359261) Ghosh A … Das SK (Biochemical and biophysical research communications 2002) 3 4 22
  3. Modulation of cholinephosphotransferase activity in breast cancer cell lines by Ro5-4864, a peripheral benzodiazepine receptor agonist. (PMID: 15936720) Akech J … Das SK (Biochemical and biophysical research communications 2005) 3 22
  4. Signal sequence and keyword trap in silico for selection of full-length human cDNAs encoding secretion or membrane proteins from oligo-capped cDNA libraries. (PMID: 16303743) Otsuki T … Isogai T (DNA research : an international journal for rapid publication of reports on genes and genomes 2005) 3 4
  5. The major sites of cellular phospholipid synthesis and molecular determinants of Fatty Acid and lipid head group specificity. (PMID: 12221122) Henneberry AL … McMaster CR (Molecular biology of the cell 2002) 4 22

Products for CHPT1 Gene

Sources for CHPT1 Gene