ASS1
entrez
445
canonical
uniprot
P00966
canonical
ensembl
ENSG00000130707
resolver
ensp
ENSP00000253004
resolver
ensp
ENSP00000361469
resolver
ensp
ENSP00000361471
resolver
ensp
ENSP00000522235
resolver
ensp
ENSP00000522237
resolver
ensp
ENSP00000522238
resolver
ensp
ENSP00000522239
resolver
ensp
ENSP00000522240
resolver
ensp
ENSP00000522241
resolver
ensp
ENSP00000522244
resolver
ensp
ENSP00000522249
resolver
ensp
ENSP00000522251
resolver
ensp
ENSP00000522254
resolver
ensp
ENSP00000522258
resolver
ensp
ENSP00000522259
resolver
ensp
ENSP00000522262
resolver
ensp
ENSP00000522264
resolver
ensp
ENSP00000522265
resolver
ensp
ENSP00000522267
resolver
ensp
ENSP00000522270
resolver
ensp
ENSP00000522271
resolver
ensp
ENSP00000522272
resolver
ensp
ENSP00000522274
resolver
ensp
ENSP00000522275
resolver
ensp
ENSP00000522276
resolver
ensp
ENSP00000522277
resolver
ensp
ENSP00000620092
resolver
enst
ENST00000352480
resolver
enst
ENST00000372393
resolver
enst
ENST00000372394
resolver
enst
ENST00000852176
resolver
enst
ENST00000852178
resolver
enst
ENST00000852179
resolver
enst
ENST00000852180
resolver
enst
ENST00000852181
resolver
enst
ENST00000852183
resolver
enst
ENST00000852185
resolver
enst
ENST00000852191
resolver
enst
ENST00000852193
resolver
enst
ENST00000852194
resolver
enst
ENST00000852199
resolver
enst
ENST00000852200
resolver
enst
ENST00000852203
resolver
enst
ENST00000852205
resolver
enst
ENST00000852206
resolver
enst
ENST00000852208
resolver
enst
ENST00000852211
resolver
enst
ENST00000852212
resolver
enst
ENST00000852213
resolver
enst
ENST00000852215
resolver
enst
ENST00000852216
resolver
enst
ENST00000852217
resolver
enst
ENST00000852218
resolver
enst
ENST00000950033
resolver
genesymbol
ASS1
resolver
genesymbol_syn
ASS
resolver
hgnc
HGNC:758
resolver
uniprot
Q5T6L4
resolver
uniprot
Q6LDL2
resolver
uniprot
Q86UZ0
resolver
uniprot
Q96GT4
resolver
uniprot_entry
ASSY_HUMAN
resolver
uniprot_entry
Q5T6L4_HUMAN
resolver
uniprot_sec
Q6LDL2
resolver
uniprot_sec
Q86UZ0
resolver
uniprot_sec
Q96GT4
resolver
amino_acid_sequence
MSSKGSVVLAYSGGLDTSCILVWLKEQGYDVIAYLANIGQKEDFEEARKKALKLGAKKVFIEDVSREFVEEFIWPAIQSSALYEDRYLLGTSLARPCIARKQVEIAQREGAKYVSHGATGKGNDQVRFELSCYSLAPQIKVIAPWRMPEFYNRFKGRNDLMEYAKQHGIPIPVTPKNPWSMDENLMHISYEAGILENPKNQAPPGLYTKTQDPAKAPNTPDILEIEFKKGVPVKVTNVKDGTTHQTSLELFMYLNEVAGKHGVGRIDIVENRFIGMKSRGIYETPAGTILYHAHLDIEAFTMDREVRKIKQGLGLKFAELVYTGFWHSPECEFVRHCIAKSQERVEGKVQVSVLKGQVYILGRESPLSLYNEELVSMNVQGDYEPTDATGFININSLRLKEYHRLQSKVTAK
uniprot
proteins
disease_involvement
DISEASE: Citrullinemia 1 (CTLN1) [MIM:215700]: The classic form of citrullinemia, an autosomal recessive disease characterized primarily by elevated serum and urine citrulline levels. Ammonia intoxication is another manifestation. It is a disorder of the urea cycle, usually manifesting in the first few days of life. Affected infants appear normal at birth, but as ammonia builds up in the body they present symptoms such as lethargy, poor feeding, vomiting, seizures and loss of consciousness. Less commonly, a milder form can develop later in childhood or adulthood. {ECO:0000269|PubMed:11708871, ECO:0000269|PubMed:11941481, ECO:0000269|PubMed:12815590, ECO:0000269|PubMed:14680976, ECO:0000269|PubMed:15863597, ECO:0000269|PubMed:16475226, ECO:0000269|PubMed:18473344, ECO:0000269|PubMed:19006241, ECO:0000269|PubMed:1943692, ECO:0000269|PubMed:2358466, ECO:0000269|PubMed:23611581, ECO:0000269|PubMed:24889030, ECO:0000269|PubMed:25179242, ECO:0000269|PubMed:27287393, ECO:0000269|PubMed:28111830, ECO:0000269|PubMed:7977368}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
6.3.4.5
uniprot
proteins
function
FUNCTION: 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. {ECO:0000305|PubMed:18473344, ECO:0000305|PubMed:27287393, ECO:0000305|PubMed:8792870}.
uniprot
proteins
mass_dalton
46530
uniprot
proteins
mutagenesis
MUTAGEN 165; /note="K->Q,R: Significant loss of acetylation but no decrease in enzyme activity; when associated with Q-176 or R-176."; /evidence="ECO:0000269|PubMed:28985504"; MUTAGEN 176; /note="K->Q,R: Significant loss of acetylation but no decrease in enzyme activity; when associated with Q-165 or R-165."; /evidence="ECO:0000269|PubMed:28985504
uniprot
proteins
pathway_participation
PATHWAY: Amino-acid biosynthesis; L-arginine biosynthesis; L-arginine from L-ornithine and carbamoyl phosphate: step 2/3. {ECO:0000305|PubMed:18473344, ECO:0000305|PubMed:27287393, ECO:0000305|PubMed:8792870}.; PATHWAY: Nitrogen metabolism; urea cycle; (N(omega)-L-arginino)succinate from L-aspartate and L-citrulline: step 1/1. {ECO:0000305|PubMed:18473344, ECO:0000305|PubMed:27287393, ECO:0000305|PubMed:8792870}.
uniprot
proteins
post_translational_modification
PTM: Acetylated by CLOCK in a circadian manner which negatively regulates its enzyme activity. Deacetylated by histone deacetylases. {ECO:0000269|PubMed:28985504}.
uniprot
proteins
protein_family
Argininosuccinate synthase family
uniprot
proteins
protein_family
Type 1 subfamily
uniprot
proteins
pubmed
11708871
uniprot
proteins
pubmed
11941481
uniprot
proteins
pubmed
12815590
uniprot
proteins
pubmed
14680976
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15863597
uniprot
proteins
pubmed
16475226
uniprot
proteins
pubmed
1708740
uniprot
proteins
pubmed
17496144
uniprot
proteins
pubmed
18323623
uniprot
proteins
pubmed
18473344
uniprot
proteins
pubmed
19006241
uniprot
proteins
pubmed
1943692
uniprot
proteins
pubmed
20068231
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
2358466
uniprot
proteins
pubmed
23611581
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
24889030
uniprot
proteins
pubmed
25179242
uniprot
proteins
pubmed
27287393
uniprot
proteins
pubmed
2788888
uniprot
proteins
pubmed
28111830
uniprot
proteins
pubmed
28985504
uniprot
proteins
pubmed
3027451
uniprot
proteins
pubmed
6194510
uniprot
proteins
pubmed
6321498
uniprot
proteins
pubmed
7977368
uniprot
proteins
pubmed
8792870
uniprot
proteins
pubmed
9150948
uniprot
proteins
sequence_length
412
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm, cytosol {ECO:0000269|PubMed:28985504, ECO:0000305|PubMed:27287393}.
uniprot
proteins