| Tag | Content |
|---|---|
| Uniprot ID | Q9QXG4; Q8BK97; |
| Entrez ID | 60525 |
| Genbank protein ID | BAC35571.1; AAH51432.1; AAF24510.1; |
| Genbank nucleotide ID | NM_019811.3 |
| Ensembl protein ID | ENSMUSP00000029135 |
| Ensembl nucleotide ID | ENSMUSG00000027605 |
| Gene name | Acetyl-coenzyme A synthetase, cytoplasmic |
| Gene symbol | Acss2 |
| Organism | Mus musculus |
| NCBI taxa ID | 10090 |
| Cleft type | |
| Developmental stage | |
| Data sources | Homology search |
| Reference | |
| Functional description | Catalyzes the synthesis of acetyl-CoA from short-chain fatty acids (PubMed:11150295, PubMed:16790548). Acetate is the preferred substrate but can also utilize propionate with a much lower affinity (PubMed:11150295). |
| Sequence | MGLPEERRKS GSGSRAREET GAEGRVRGWS PPPEVRRSAH VPSLQRYREL HRRSVEEPRE 60 FWGNIAKEFY WKTACPGPFL QYNFDVTKGK IFTEWMKGAT TNICYNVLDR NVHEKKLGDK 120 VAFYWEGNEP GETTKITYRE LLVQVCQFSN VLRKQGIQKG DRVAIYMPMI LELVVAMLAC 180 ARLGALHSIV FAGFSAESLC ERILDSSCCL LITTDAFYRG EKLVNLKELA DESLEKCREK 240 GFPVRCCIVV KHLGRAELGM NDSPSQSPPV KRPCPDVQIC WNEGVDLWWH ELMQQAGDEC 300 EPEWCDAEDP LFILYTSGST GKPKGVVHTI GGYMLYVATT FKYVFDFHPE DVFWCTADIG 360 WITGHSYVTY GPLANGATSV LFEGIPTYPD EGRLWSIVDK YKVTKFYTAP TAIRMLMKFG 420 DDPVTKHSRA SLQVLGTVGE PINPEAWLWY HRVVGSQRCP IVDTFWQTET GGHMLTPLPG 480 ATPMKPGSAS FPFFGVAPAI LNESGEELEG EAEGYLVFKQ PWPGIMRTVY GNHTRFETTY 540 FKKFPGYYVT GDGCRRDQDG YYWITGRIDD MLNVSGHLLS TAEVESALVE HEAVAEAAVV 600 GHPHPVKGEC LYCFVTLCDG HTFSPTLTEE LKKQIREKIG PIATPDYIQN APGLPKTRSG 660 KIMRRVLRKI AQNDHDLGDT STVADPSVIN HLFSHRCLTT Q 701 |
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.
| Relation | Gene symbol | Entrez ID | UniProt ID | Cleft type | Developmental stage | Species | Evidence | Details |
|---|---|---|---|---|---|---|---|---|
| 1:1 ortholog | ACSS2 | 506459 | A7YWF1 | Bos taurus | Prediction | More>> | ||
| 1:1 ortholog | ACSS2 | E2R0C6 | Canis lupus familiaris | Prediction | More>> | |||
| 1:1 ortholog | ACSS2 | 102169772 | A0A452FVS4 | Capra hircus | Prediction | More>> | ||
| 1:1 ortholog | ACSS2 | 55902 | Q9NR19 | Homo sapiens | Publication | More>> | ||
| 1:1 ortholog | Acss2 | 60525 | Q9QXG4 | Mus musculus | Prediction | More>> | ||
| 1:1 ortholog | ACSS2 | A0A2J8JYI9 | Pan troglodytes | Prediction | More>> | |||
| 1:1 ortholog | ACSS2 | F1S4Y0 | Sus scrofa | Prediction | More>> | |||
| 1:1 ortholog | Acss2 | 311569 | G3V9U0 | Rattus norvegicus | Prediction | More>> | ||
| 1:1 ortholog | acss2 | Q6DHN4 | Danio rerio | Prediction | More>> |
| Gene symbol | Significant Variants/SNPS | Methods | PubMed ID |
|---|---|---|---|
| ACSS2 | rs59088485T>C (p.Val496Ala) | WES and Sanger sequencing | 27229527 |
| GO ID | GO Term | Evidence |
|---|---|---|
| GO:0003987 | acetate-CoA ligase activity | ISO |
| GO:0003987 | acetate-CoA ligase activity | IDA |
| GO:0005524 | ATP binding | IEA |
| GO:0050218 | propionate-CoA ligase activity | IDA |
| GO ID | GO Term | Evidence |
|---|---|---|
| GO:0006085 | acetyl-CoA biosynthetic process | IDA |
| GO:0008610 | lipid biosynthetic process | ISO |
| GO:0019413 | acetate biosynthetic process | ISO |
| GO:0019542 | propionate biosynthetic process | ISO |
| GO ID | GO Term | Evidence |
|---|---|---|
| GO:0005654 | nucleoplasm | ISO |
| GO:0005737 | cytoplasm | ISO |
| GO:0005737 | cytoplasm | IDA |
| GO:0005829 | cytosol | ISO |
| GO:0043231 | intracellular membrane-bounded organelle | ISO |
| Reactome ID | Reactome Term | Evidence |
|---|---|---|
| R-MMU-1430728 | Metabolism | IEA |
| R-MMU-1592230 | Mitochondrial biogenesis | IEA |
| R-MMU-1852241 | Organelle biogenesis and maintenance | IEA |
| R-MMU-211859 | Biological oxidations | IEA |
| R-MMU-211945 | Phase I - Functionalization of compounds | IEA |
| R-MMU-2151201 | Transcriptional activation of mitochondrial biogenesis | IEA |
| R-MMU-71384 | Ethanol oxidation | IEA |
| PROSITE ID | PROSITE Term |
|---|---|
| PS00455 | AMP_BINDING |