| Tag | Content |
|---|---|
| Uniprot ID | P00966; Q6LDL2; Q86UZ0; Q96GT4; |
| Entrez ID | 445 |
| Genbank protein ID | AAH21676.1; CAA25771.1; AAH09243.1; AAK67487.1; AAA51782.1; AAA51783.1; |
| Genbank nucleotide ID | NM_054012.3; NM_000050.4; XM_005272200.3; |
| Ensembl protein ID | ENSP00000361471; ENSP00000253004; ENSP00000361469; |
| Ensembl nucleotide ID | ENSG00000130707 |
| Gene name | Argininosuccinate synthase |
| Gene symbol | ASS1 |
| Organism | Homo sapiens |
| NCBI taxa ID | 9606 |
| Cleft type | CL/P |
| Developmental stage | |
| Data sources | Manually collected |
| Reference | 20739017 |
| Functional description | One of the enzymes of the urea cycle, the metabolic pathway transforming neurotoxic amonia produced by protein catabolism into inocuous urea in the liver of ureotelic animals. Catalyzes the formation of arginosuccinate from aspartate, citrulline and ATP and together with ASL it is responsible for the biosynthesis of arginine in most body tissues. |
| Sequence | MSSKGSVVLA YSGGLDTSCI LVWLKEQGYD VIAYLANIGQ KEDFEEARKK ALKLGAKKVF 60 IEDVSREFVE EFIWPAIQSS ALYEDRYLLG TSLARPCIAR KQVEIAQREG AKYVSHGATG 120 KGNDQVRFEL SCYSLAPQIK VIAPWRMPEF YNRFKGRNDL MEYAKQHGIP IPVTPKNPWS 180 MDENLMHISY EAGILENPKN QAPPGLYTKT QDPAKAPNTP DILEIEFKKG VPVKVTNVKD 240 GTTHQTSLEL FMYLNEVAGK HGVGRIDIVE NRFIGMKSRG IYETPAGTIL YHAHLDIEAF 300 TMDREVRKIK QGLGLKFAEL VYTGFWHSPE CEFVRHCIAK SQERVEGKVQ VSVLKGQVYI 360 LGRESPLSLY NEELVSMNVQ GDYEPTDATG FININSLRLK EYHRLQSKVT AK 412 |
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.