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CHPT1 Gene(Protein Coding)

Choline Phosphotransferase 1

GCID:
GC12P101696
GIFtS:
47
Genes Participants
UDN Logo

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 56
  • HCPT1 3 4
  • CPT1 3 4
  • Cholinephosphotransferase 1 Alpha 3
  • Cholinephosphotransferase 1 3
  • EC 2.7.8 56
  • 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 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 for CHPT1 Gene

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

Additional gene information for CHPT1 Gene

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

Genomics for CHPT1 Gene

Products:

  1. Regulatory Element

GeneHancer (GH) Regulatory Elements for CHPT1 Gene

Promoters and enhancers for CHPT1 Gene
GeneHancer (GH) Identifier GH Type GH
Score		 GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites		 Gene Targets
GH12I101695 Promoter/Enhancer 2.5 EPDnew Ensembl ENCODE dbSUPER 591.3 +1.7 1741 6.9 PKNOX1 SMAD1 FOXA2 ARNT ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF213 CHPT1 ARL1 GNPTAB ENSG00000274560 GC12P101721
GH12I101828 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE 19.2 +132.9 132860 3.3 ARNT ARID4B SIN3A GTF3C2 ZNF121 GLIS2 ZNF143 ATF7 RUNX3 SP3 GNPTAB CHPT1 RNU6-172P
GH12I101742 Enhancer 0.9 ENCODE dbSUPER 38.4 +46.9 46906 3.3 CTCF PKNOX1 EBF1 KLF5 E4F1 POLR2A ATF7 IKZF2 RUNX3 ZNF687 CHPT1 GNPTAB RNA5SP369 SYCP3 GC12P101765
GH12I101875 Promoter/Enhancer 2.4 EPDnew FANTOM5 Ensembl ENCODE 13.1 +180.4 180401 4.5 HDGF ARNT ARID4B SIN3A DMAP1 POLR2B ZNF207 ZNF143 ZNF263 SP3 DRAM1 ENSG00000257222 CHPT1 UTP20 PARPBP GNPTAB PIR46358
GH12I101712 Enhancer 1.3 Ensembl ENCODE dbSUPER 22.6 +17.3 17327 3.7 HDGF FOXA2 MLX ZFP64 ARID4B DMAP1 ZNF48 YY1 RXRA SP5 GNPTAB CHPT1 SYCP3 RNU6-101P RNA5SP369 GC12P101721
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around CHPT1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the CHPT1 gene promoter:

Genomic Locations for CHPT1 Gene

Genomic Locations for CHPT1 Gene
chr12:101,696,947-101,744,140
(GRCh38/hg38)
Size:
47,194 bases
Orientation:
Plus strand
chr12:102,090,725-102,137,918
(GRCh37/hg19)

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 Structure • Gene Density

RefSeq DNA sequence for CHPT1 Gene

Proteins for CHPT1 Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

  • 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

Protein Expression for CHPT1 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Selected DME Specific Peptides for CHPT1 Gene

Q8WUD6:
  • GGVGKNGST
  • PLWMAPN
  • SPLGELFDHGCDS
  • DGKQARRTNS
  • WTWLLQWIPLW
  • YQSLDAIDGKQARRTNS
  • AHWQTYVSG
  • AHMTKSE
  • WTYLLCA

Post-translational modifications for CHPT1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for CHPT1 Gene

ENSEMBL proteins:
REFSEQ proteins:

Domains & Families for CHPT1 Gene

Gene Families for CHPT1 Gene

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

Protein Domains for CHPT1 Gene

Blocks:
InterPro:
ProtoNet:

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

Function for CHPT1 Gene

Products:

  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line

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

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 TAS --
GO:0016740 transferase activity IEA --
GO:0016780 phosphotransferase activity, for other substituted phosphate groups IEA --
GO:0019992 diacylglycerol binding NAS 10893425
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with CHPT1: view
genes like me logo Genes that share phenotypes with CHPT1: view

Animal Model Products

  • Taconic Biosciences Mouse Models for CHPT1

CRISPR Products

miRNA for CHPT1 Gene

miRTarBase miRNAs that target CHPT1

Inhibitory RNA Products

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
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
endoplasmic reticulum 2
mitochondrion 1
peroxisome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Vesicles (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for CHPT1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000139 Golgi membrane TAS --
GO:0005794 Golgi apparatus IEA --
GO:0016020 membrane IEA,NAS 10893425
GO:0016021 integral component of membrane IEA --
GO:0043231 intracellular membrane-bounded organelle NAS 10893425
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

Products:

  1. Drug

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Citicoline Approved, Investigational Pharma 0
Magnesium Approved Nutra 0
Manganese Approved Nutra 37
Cytidine monophosphate Experimental Pharma 0

(21) 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
CMP-N-trimethyl-2-aminoethylphosphonate
Diglycerides Group A
  • 1-Myristoyl-2-pentadecanoyl-sn-glycerol
  • DAG(14:0/15:0)
  • DAG(29:0)
  • DG(14:0/15:0)
  • DG(29:0)
Diglycerides Group B
  • 1-Palmitoleoyl-2-arachidonoyl-sn-glycerol
  • DAG(16:1/20:4)
  • DAG(16:1n7/20:4n6)
  • DAG(16:1w7/20:4w6)
  • DAG(36:5)
Diglycerides Group C
  • 1-Pentadecanoyl-3-behenoyl-sn-glycerol
  • 1-Pentadecanoyl-3-docosanoyl-sn-glycerol
  • DAG(15:0/0:0/22:0)
  • DAG(37:0)
  • DG(37:0)
genes like me logo Genes that share compounds with CHPT1: view

Transcripts for CHPT1 Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for CHPT1 Gene

(3) REFSEQ mRNAs :
(14) Additional mRNA sequences :
(220) Selected AceView cDNA sequences:
(10) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for CHPT1 Gene

Choline phosphotransferase 1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

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

Products:

  1. Primer
  2. Gene Expression Assay

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

mRNA expression in normal human tissues for CHPT1 Gene
mRNA expression by BioGPS for CHPT1 GenemRNA expression by GTEx 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, MaxQB, and MOPED for CHPT1 Gene



NURSA nuclear receptor signaling pathways regulating expression of CHPT1 Gene:

CHPT1

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.

Evidence on tissue expression from TISSUES for CHPT1 Gene

  • Nervous system(4.6)
  • Heart(4.3)
  • Liver(2.7)
  • Lung(2)
genes like me logo Genes that share expression patterns with CHPT1: view

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
chimpanzee
(Pan troglodytes)
 Mammalia CHPT1 33 34
  • 99.34 (n)
cow
(Bos Taurus)
 Mammalia CHPT1 33 34
  • 92.98 (n)
dog
(Canis familiaris)
 Mammalia CHPT1 33 34
  • 92.94 (n)
mouse
(Mus musculus)
 Mammalia Chpt1 33 16 34
  • 89.39 (n)
rat
(Rattus norvegicus)
 Mammalia Chpt1 33
  • 89.06 (n)
platypus
(Ornithorhynchus anatinus)
 Mammalia CHPT1 34
  • 79 (a)
 OneToOne
oppossum
(Monodelphis domestica)
 Mammalia CHPT1 34
  • 66 (a)
 OneToOne
chicken
(Gallus gallus)
 Aves CHPT1 34
  • 66 (a)
 OneToOne
lizard
(Anolis carolinensis)
 Reptilia CHPT1 34
  • 69 (a)
 OneToOne
tropical clawed frog
(Silurana tropicalis)
 Amphibia chpt1 33
  • 66.58 (n)
zebrafish
(Danio rerio)
 Actinopterygii chpt1 33 34
  • 66.21 (n)
fruit fly
(Drosophila melanogaster)
 Insecta CG6016 35
  • 53 (a)
bbc 34
  • 48 (a)
 OneToMany
worm
(Caenorhabditis elegans)
 Secernentea cept-1 34
  • 44 (a)
 ManyToMany
Y49A3A.1 35
  • 43 (a)
cept-2 34
  • 38 (a)
 ManyToMany
baker's yeast
(Saccharomyces cerevisiae)
 Saccharomycetes CPT1 34
  • 23 (a)
 ManyToMany
EPT1 34
  • 21 (a)
 ManyToMany
Species where no ortholog for CHPT1 was found in the sources mined by GeneCards:
  • 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

Products:

  1. SNP Genotyping and Copy Number Assay

Sequence variations from dbSNP and Humsavar for CHPT1 Gene

SNP ID Clin Chr 12 pos Variation AA Info Type
rs10219650 likely-benign, Mucolipidosis, Type III Alpha/Beta, Mucolipidosis, Type II 101,745,707(+) T/C genic_downstream_transcript_variant, intron_variant
rs111500504 uncertain-significance, Mucolipidosis, Type II, Mucolipidosis, Type III Alpha/Beta 101,746,425(+) A/G genic_downstream_transcript_variant, intron_variant
rs112815421 likely-benign, Mucolipidosis, Type II, Mucolipidosis, Type III Alpha/Beta 101,745,969(+) T/G genic_downstream_transcript_variant, intron_variant
rs115013475 likely-benign, Spermatogenic Failure 101,728,744(+) T/C intron_variant
rs143769734 uncertain-significance, Mucolipidosis, Type III Alpha/Beta, Mucolipidosis, Type II 101,745,774(+) C/G genic_downstream_transcript_variant, intron_variant

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
CHPT1

SNP Genotyping and Copy Number Assay Products

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

Disorders for CHPT1 Gene

Additional Disease Information for CHPT1

Genetic Association Database
(GAD)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology

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 AL … McMaster CR (The Journal of biological chemistry 2000) 2 3 4 22 58
  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 58
  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 58
  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 58
  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 58

Products for CHPT1 Gene

Sources for CHPT1 Gene

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