| Tag | Content |
|---|---|
| Uniprot ID | P49585; A9LYK9; D3DXB1; Q86Y88; |
| Entrez ID | 5130 |
| Genbank protein ID | ABX44666.1; AAA72127.1; EAW53655.1; EAW53662.1; AAH46355.1; |
| Genbank nucleotide ID | NM_005017.3; NM_001312673.1; |
| Ensembl protein ID | ENSP00000394617; ENSP00000292823; |
| Ensembl nucleotide ID | ENSG00000161217 |
| Gene name | Choline-phosphate cytidylyltransferase A |
| Gene symbol | PCYT1A |
| Organism | Homo sapiens |
| NCBI taxa ID | 9606 |
| Cleft type | |
| Developmental stage | |
| Data sources | Manually collected |
| Reference | 20662904 |
| Functional description | Controls phosphatidylcholine synthesis. |
| Sequence | MDAQCSAKVN ARKRRKEAPG PNGATEEDGV PSKVQRCAVG LRQPAPFSDE IEVDFSKPYV 60 RVTMEEASRG TPCERPVRVY ADGIFDLFHS GHARALMQAK NLFPNTYLIV GVCSDELTHN 120 FKGFTVMNEN ERYDAVQHCR YVDEVVRNAP WTLTPEFLAE HRIDFVAHDD IPYSSAGSDD 180 VYKHIKEAGM FAPTQRTEGI STSDIITRIV RDYDVYARRN LQRGYTAKEL NVSFINEKKY 240 HLQERVDKVK KKVKDVEEKS KEFVQKVEEK SIDLIQKWEE KSREFIGSFL EMFGPEGALK 300 HMLKEGKGRM LQAISPKQSP SSSPTRERSP SPSFRWPFSG KTSPPCSPAN LSRHKAAAYD 360 ISEDEED 367 |
Abbreviation :
CLO : cleft lip only. CPO : cleft palate only.
CLP : cleft lip and palate. CL/P : cleft lip with/without cleft palate.
For humans: CL/P, CLO, CPO, and CLP. For mice: CLO, CLP, and CPO.