CHPT1 (choline phosphotransferase 1)

Gene Gene information from NCBI Gene database.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 56994
Gene name Choline phosphotransferase 1
Gene symbol CHPT1
Synonyms (NCBI Gene)
CPTCPT1
Chromosome 12
Chromosome location 12q23.2
miRNA miRNA information provided by mirtarbase database.
8
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (8)
miRTarBase ID miRNA Experiments Reference
MIRT019907 hsa-miR-375 Microarray 20215506
MIRT024793 hsa-miR-215-5p Microarray 19074876
MIRT026717 hsa-miR-192-5p Microarray 19074876
MIRT031836 hsa-miR-16-5p Microarray 21199864
MIRT891413 hsa-miR-3667-3p CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
28
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (28)
GO ID Ontology Definition Evidence Reference
GO:0000139 Component Golgi membrane IDA 12221122
GO:0000139 Component Golgi membrane IEA
GO:0000139 Component Golgi membrane TAS
GO:0001558 Process Regulation of cell growth NAS 10893425
GO:0004142 Function Diacylglycerol cholinephosphotransferase activity IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
616747 17852 ENSG00000111666
Protein Protein information from UniProt database.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q8WUD6
Protein name Cholinephosphotransferase 1 (hCPT1) (EC 2.7.8.2) (AAPT1-like protein) (Diacylglycerol cholinephosphotransferase 1)
Protein function Catalyzes the final step of de novo phosphatidylcholine (PC) synthesis, i.e. the transfer of choline phosphate from CDP-choline to the free hydroxyl of a diacylglycerol (DAG), producing a PC. It thereby plays a central role in the formation and
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01066 CDP-OH_P_transf 61 → 136 CDP-alcohol phosphatidyltransferase Family
Tissue specificity 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 cancer
Sequence 
MAAGAGAGSAPRWLRALSEPLSAAQLRRLEEHRYSAAGVSLLEPPLQLYWTWLLQWIPLW
MAPNSITLLGLAVNVVTTLVLISYCPTATEEAPYWTYLLCALGLFIYQSLDAIDGKQARR
TNSCSPLGELFDHGCDSLSTVFMAVGASIAARLGTYPDWFFFCSFIGMFVFYCAHWQTYV
SGMLRFGKVDVTEIQIALVIVFVLSAFGGATMWDYTIPILEIKLKILPVLGFLGGVIFSC
SNYFHVILHGGVGKNGSTIAGTSVLSPGLHIGLIIILAIMIYKKSATDVFEKHPCLYILM
FGCVFAKVSQKLVVAHMTKSELYLQDTVFLGPGLLFLDQYFNNFIDEYVVLWMAMVISSF
DMVIYFSALCLQISRHLHLNIFKTACHQAPEQVQVLSSKSHQNNMD
Sequence length 406
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG  Reactome
  Phosphonate and phosphinate metabolism
Glycerophospholipid metabolism
Ether lipid metabolism
Metabolic pathways
Choline metabolism in cancer 		  Synthesis of PC
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
1
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Show/Hide Unknown Diseases (1)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
OROFACIAL CLEFT — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Show/Hide Text Mining Associations (158)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acute Promyelocytic Leukemia Promyelocytic Leukemia BEFREE 23382200
★★★★★
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Adenocarcinoma BEFREE 9766666, 9858913
★★★★★
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of lung (disorder) Lung adenocarcinoma BEFREE 21350582
★★★★★
★☆☆☆☆
Found in Text Mining only
Adenoma Adenoma BEFREE 24195516
★★★★★
★☆☆☆☆
Found in Text Mining only
Adult Medulloblastoma Medulloblastoma BEFREE 22402322
★★★★★
★☆☆☆☆
Found in Text Mining only
Anaplastic Oligodendroglioma Anaplastic Oligodendroglioma BEFREE 18480965
★★★★★
★☆☆☆☆
Found in Text Mining only
Anhedonia Anhedonia BEFREE 28526869, 7792330
★★★★★
★☆☆☆☆
Found in Text Mining only
Anorexia Anorexia BEFREE 21593415
★★★★★
★☆☆☆☆
Found in Text Mining only
Arthritis, Psoriatic Psoriatic Arthritis BEFREE 29886733, 31744213
★★★★★
★☆☆☆☆
Found in Text Mining only
Astrocytoma Astrocytoma BEFREE 16356833
★★★★★
★☆☆☆☆
Found in Text Mining only