Q8WUD6 (CHPT1_HUMAN) Reviewed, UniProtKB/Swiss-Prot
Last modified
January 25, 2012.
Version 75.
History...
Names·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order
Names·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize orderNames and origin
| Protein names | Recommended name: Cholinephosphotransferase 1 Short name=hCPT1 EC=2.7.8.2 Alternative name(s): AAPT1-like protein Diacylglycerol cholinephosphotransferase 1 | ||||||
| Gene names |
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| Organism | Homo sapiens (Human) | ||||||
| Taxonomic identifier | 9606 [NCBI] | ||||||
| Taxonomic lineage | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Protein attributes
| Sequence length | 406 AA. |
| Sequence status | Complete. |
| Sequence processing | The displayed sequence is further processed into a mature form. |
| Protein existence | Evidence at protein level |
General annotation (Comments)
| Function | Catalyzes phosphatidylcholine biosynthesis from CDP-choline. It thereby plays a central role in the formation and maintenance of vesicular membranes. |
| Catalytic activity | CDP-choline + 1,2-diacylglycerol = CMP + a phosphatidylcholine. Ref.1 |
| Cofactor | Magnesium or manganese. Ref.1 |
| Pathway | |
| Subcellular location | Golgi apparatus membrane; Multi-pass membrane protein Ref.9. |
| 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. Ref.1 Ref.8 |
| Sequence similarities | Belongs to the CDP-alcohol phosphatidyltransferase class-I family. |
| Sequence caution | The sequence AAD44019.1 differs from that shown. Reason: Frameshift at position 310. The sequence AAL39005.1 differs from that shown. Reason: Erroneous initiation. |
Ontologies
Alternative products
| This entry describes 2 isoforms produced by alternative splicing. [Align] [Select] | ||||||
| Isoform 1 (identifier: Q8WUD6-1) Also known as: Alpha; This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. | ||||||
| Isoform 2 (identifier: Q8WUD6-2) Also known as: Beta; The sequence of this isoform differs from the canonical sequence as follows: 217-218: IP → FS 219-406: Missing. |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||
Molecule processing | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Initiator methionine | 1 | 1 | Removed | ||||||
| Chain | 2 – 406 | 405 | Cholinephosphotransferase 1 | PRO_0000289252 | |||||
Regions | |||||||||
| Transmembrane | 66 – 86 | 21 | Helical; Potential | ||||||
| Transmembrane | 93 – 113 | 21 | Helical; Potential | ||||||
| Transmembrane | 153 – 173 | 21 | Helical; Potential | ||||||
| Transmembrane | 193 – 213 | 21 | Helical; Potential | ||||||
| Transmembrane | 226 – 248 | 23 | Helical; Potential | ||||||
| Transmembrane | 261 – 281 | 21 | Helical; Potential | ||||||
| Transmembrane | 295 – 315 | 21 | Helical; Potential | ||||||
| Transmembrane | 349 – 369 | 21 | Helical; Potential | ||||||
Amino acid modifications | |||||||||
| Modified residue | 2 | 1 | N-acetylalanine Ref.10 | ||||||
Natural variations | |||||||||
| Alternative sequence | 217 – 218 | 2 | IP → FS in isoform 2. | VSP_025989 | |||||
| Alternative sequence | 219 – 406 | 188 | Missing in isoform 2. | VSP_025990 | |||||
| Natural variant | 162 | 1 | F → S. Ref.1 Corresponds to variant rs3205421 [ dbSNP | Ensembl ]. | VAR_032612 | |||||
| Natural variant | 323 | 1 | Y → S in MCF-12A cell line. Ref.8 | VAR_032613 | |||||
Experimental info | |||||||||
| Sequence conflict | 86 | 1 | P → L in AAD44019. Ref.5 | ||||||
| Sequence conflict | 109 | 1 | S → P in AAD44019. Ref.5 | ||||||
| Sequence conflict | 269 | 1 | L → P in AAD44019. Ref.5 | ||||||
| Sequence conflict | 346 | 1 | D → G in AAD44019. Ref.5 | ||||||
Sequences
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References
| « Hide 'large scale' references | |
| [1] | "Cloning, genomic organization, and characterization of a human cholinephosphotransferase." Henneberry A.L., Wistow G., McMaster C.R. J. Biol. Chem. 275:29808-29815(2000) [PubMed: 10893425] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1 AND 2), ENZYME ACTIVITY, COFACTOR, TISSUE SPECIFICITY, VARIANT SER-162. Tissue: Brain. |
| [2] | "Signal sequence and keyword trap in silico for selection of full-length human cDNAs encoding secretion or membrane proteins from oligo-capped cDNA libraries." Otsuki T., Ota T., Nishikawa T., Hayashi K., Suzuki Y., Yamamoto J., Wakamatsu A., Kimura K., Sakamoto K., Hatano N., Kawai Y., Ishii S., Saito K., Kojima S., Sugiyama T., Ono T., Okano K., Yoshikawa Y. Isogai T.DNA Res. 12:117-126(2005) [PubMed: 16303743] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1). Tissue: Placenta. |
| [3] | Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. Venter J.C.Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. |
| [4] | "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed: 15489334] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1). Tissue: Testis and Uterus. |
| [5] | "Human AAPT1-like gene." Zhang Q., Mao M., Fu G., Huang Q., Zhou J., Yu Y., Xu S., Shen Y., Huang Q., Wang Y., Chen Z. Submitted (FEB-1998) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 70-406. |
| [6] | Xu Y.Y., Sun L.Z., Wu Q.Y., Liu Y.Q., Liu B., Zhao B., Wang X.Y., Song L., Ye J., Sheng H., Gao Y., Zhang C.L., Zhang J., Wei Y.J., Sun Y.H., Jiang Y.X., Zhao X.W., Liu S. Hui R.T.Submitted (DEC-1998) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 115-406. Tissue: Heart. |
| [7] | "Inhibition of cholinephosphotransferase activity in lung injury induced by 2-chloroethyl ethyl sulfide, a mustard analog." Sinha Roy S., Mukherjee S., Kabir S., Rajaratnam V., Smith M., Das S.K. J. Biochem. Mol. Toxicol. 19:289-297(2005) [PubMed: 16292752] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 174-406. |
| [8] | "Differential expression of cholinephosphotransferase in normal and cancerous human mammary epithelial cells." Ghosh A., Akech J., Mukherjee S., Das S.K. Biochem. Biophys. Res. Commun. 297:1043-1048(2002) [PubMed: 12359261] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 235-371, TISSUE SPECIFICITY, VARIANT SER-323. |
| [9] | "The major sites of cellular phospholipid synthesis and molecular determinants of fatty acid and lipid head group specificity." Henneberry A.L., Wright M.M., McMaster C.R. Mol. Biol. Cell 13:3148-3161(2002) [PubMed: 12221122] [Abstract] Cited for: SUBCELLULAR LOCATION. |
| [10] | "Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach." Gauci S., Helbig A.O., Slijper M., Krijgsveld J., Heck A.J., Mohammed S. Anal. Chem. 81:4493-4501(2009) [PubMed: 19413330] [Abstract] Cited for: ACETYLATION [LARGE SCALE ANALYSIS] AT ALA-2, MASS SPECTROMETRY. Tissue: Embryonic kidney. |
| + | Additional computationally mapped references. |
Cross-references
Sequence databases | |
|---|---|
| EMBL GenBank DDBJ | AF195623 mRNA. Translation: AAF87947.1. AF195624 mRNA. Translation: AAF87948.1. AK075211 mRNA. Translation: BAG52084.1. CH471054 Genomic DNA. Translation: EAW97675.1. BC020819 mRNA. Translation: AAH20819.1. BC050429 mRNA. Translation: AAH50429.1. AF047431 mRNA. Translation: AAD44019.1. Frameshift. AF111803 mRNA. Translation: AAL39005.1. Different initiation. AY280609 mRNA. Translation: AAP34412.1. AY280610 mRNA. Translation: AAP34413.1. AY294627 mRNA. Translation: AAP37157.1. AY166717 mRNA. Translation: AAN86122.1. AY166718 mRNA. Translation: AAN86123.1. |
| IPI | IPI00329548. IPI00792004. |
| RefSeq | NP_064629.2. NM_020244.2. |
| UniGene | Hs.293077. |
3D structure databases | |
| ProteinModelPortal | Q8WUD6. |
| ModBase | Search... |
Protein-protein interaction databases | |
| STRING | Q8WUD6. |
PTM databases | |
| PhosphoSite | Q8WUD6. |
Polymorphism databases | |
| DMDM | 74730698. |
Proteomic databases | |
| PRIDE | Q8WUD6. |
Protocols and materials databases | |
| StructuralBiologyKnowledgebase | Search... |
Genome annotation databases | |
| Ensembl | ENST00000229266; ENSP00000229266; ENSG00000111666. |
| GeneID | 56994. |
| KEGG | hsa:56994. |
| UCSC | uc001tin.1. human. uc001tip.1. human. |
Organism-specific databases | |
| CTD | 56994. |
| GeneCards | GC12P102074. |
| H-InvDB | HIX0010924. |
| HGNC | HGNC:17852. CHPT1. |
| neXtProt | NX_Q8WUD6. |
| PharmGKB | PA26477. |
| GenAtlas | Search... |
Phylogenomic databases | |
| eggNOG | prNOG16251. |
| GeneTree | ENSGT00530000063048. |
| HOVERGEN | HBG107647. |
| InParanoid | Q8WUD6. |
| OMA | PILEIKW. |
| OrthoDB | EOG4V6ZGJ. |
| PhylomeDB | Q8WUD6. |
Enzyme and pathway databases | |
| BRENDA | 2.7.8.2. 2681. |
Gene expression databases | |
| ArrayExpress | Q8WUD6. |
| Bgee | Q8WUD6. |
| CleanEx | HS_CHPT1. |
| Genevestigator | Q8WUD6. |
Family and domain databases | |
| InterPro | IPR000462. CDP-OH_P_trans. IPR014472. CHOPT. [Graphical view] |
| KO | K00994. |
| Pfam | PF01066. CDP-OH_P_transf. 1 hit. [Graphical view] |
| PIRSF | PIRSF015665. CHOPT. 1 hit. |
| PROSITE | PS00379. CDP_ALCOHOL_P_TRANSF. 1 hit. [Graphical view] |
| ProtoNet | Search... |
Other | |
| NextBio | 62697. |
Entry information
| Entry name | CHPT1_HUMAN | ||||||||
| Accession | Primary (citable) accession number: Q8WUD6 Secondary accession number(s): B3KQM2 Q9Y6M6 | ||||||||
| Entry history |
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| Entry status | Reviewed (UniProtKB/Swiss-Prot) | ||||||||
| Annotation program | Chordata Protein Annotation Program | ||||||||
| Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. | ||||||||
Relevant documents
| Human chromosome 12 Human chromosome 12: entries, gene names and cross-references to MIM |
| Human entries with polymorphisms or disease mutations List of human entries with polymorphisms or disease mutations |
| Human polymorphisms and disease mutations Index of human polymorphisms and disease mutations |
| PATHWAY comments Index of metabolic and biosynthesis pathways |
| SIMILARITY comments Index of protein domains and families |

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