Official symbol | ASS1 |
Gene id | 445 |
Organism | Homo sapiens |
Official full symbol | argininosuccinate synthase 1 |
Gene type | protein-coding |
Also known as | ASS, CTLN1 |
Summary | The protein encoded by this gene catalyzes the penultimate step of the arginine biosynthetic pathway. There are approximately 10 to 14 copies of this gene including the pseudogenes scattered across the human genome, among which the one located on chromosome 9 appears to be the only functional gene for argininosuccinate synthetase. Mutations in the chromosome 9 copy of this gene cause citrullinemia. Two transcript variants encoding the same protein have been found for this gene. |
Genomic regions | Chromosome 9 |
Name | Transcript ID | bp | Protein | Biotype | CCDS | UniProt Match | RefSeq Match | Flags |
ASS1-204 | ENST00000372394.5 | 1973 | 412aa | Protein coding | CCDS6933 | P00966 Q5T6L4 | - | TSL:2, GENCODE basic, APPRIS P1, |
ASS1-203 | ENST00000372393.7 | 1548 | 412aa | Protein coding | CCDS6933 | P00966 Q5T6L4 | - | TSL:5, GENCODE basic, APPRIS P1, |
ASS1-201 | ENST00000352480.10 | 1532 | 412aa | Protein coding | CCDS6933 | P00966 Q5T6L4 | NM_054012.4 | TSL:1, GENCODE basic, APPRIS P1, MANE Select v0.92, |
ASS1-205 | ENST00000422569.5 | 807 | 198aa | Protein coding | - | Q5T6L6 | - | CDS 3' incomplete, TSL:5, |
ASS1-206 | ENST00000443588.1 | 545 | 179aa | Protein coding | - | Q5T6L5 | - | CDS 3' incomplete, TSL:5, |
ASS1-202 | ENST00000372386.6 | 667 | No protein | Processed transcript | - | - | - | TSL:3, |
ASS1-209 | ENST00000492400.5 | 444 | No protein | Processed transcript | - | - | - | TSL:3, |
ASS1-210 | ENST00000493984.6 | 687 | No protein | Retained intron | - | - | - | TSL:5, |
ASS1-208 | ENST00000470849.4 | 652 | No protein | Retained intron | - | - | - | TSL:2, |
ASS1-207 | ENST00000467695.5 | 580 | No protein | Retained intron | - | - | - | TSL:2, |
Target Gene | ASS1 |
This KO Strategy | loading |
Red Cotton™ Notes | Gene ASS1 had been KO in hela cell line. |
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