ADSS1
entrez
122622
canonical
uniprot
Q8N142
canonical
ensembl
ENSG00000185100
resolver
ensp
ENSP00000331260
resolver
ensp
ENSP00000333019
resolver
ensp
ENSP00000644345
resolver
genesymbol
ADSS1
resolver
genesymbol_syn
ADSSL1
resolver
hgnc
HGNC:20093
resolver
uniprot
B3KTV4
resolver
uniprot
Q86TT6
resolver
uniprot
Q8N714
resolver
uniprot_entry
B3KTV4_HUMAN
resolver
uniprot_entry
PURA1_HUMAN
resolver
uniprot_sec
Q86TT6
resolver
uniprot_sec
Q8N714
resolver
amino_acid_sequence
MSGTRASNDRPPGAGGVKRGRLQQEAAATGSRVTVVLGAQWGDEGKGKVVDLLATDADIISRCQGGNNAGHTVVVDGKEYDFHLLPSGIINTKAVSFIGNGVVIHLPGLFEEAEKNEKKGLKDWEKRLIISDRAHLVFDFHQAVDGLQEVQRQAQEGKNIGTTKKGIGPTYSSKAARTGLRICDLLSDFDEFSSRFKNLAHQHQSMFPTLEIDIEGQLKRLKGFAERIRPMVRDGVYFMYEALHGPPKKILVEGANAALLDIDFGTYPFVTSSNCTVGGVCTGLGIPPQNIGDVYGVVKAYTTRVGIGAFPTEQINEIGGLLQTRGHEWGVTTGRKRRCGWLDLMILRYAHMVNGFTALALTKLDILDVLGEVKVGVSYKLNGKRIPYFPANQEMLQKVEVEYETLPGWKADTTGARRWEDLPPQAQNYIRFVENHVGVAVKWVGVGKSRESMIQLF
uniprot
proteins
disease_involvement
DISEASE: Myopathy, distal, 5 (MPD5) [MIM:617030]: A form of distal myopathy, a group of muscular disorders characterized by progressive muscular weakness and muscle atrophy beginning in the hands, the legs or the feet. MPD5 is an autosomal recessive form, predominantly affecting the lower limbs. {ECO:0000269|PubMed:26506222}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
6.3.4.4
uniprot
proteins
function
FUNCTION: Component of the purine nucleotide cycle (PNC), which interconverts IMP and AMP to regulate the nucleotide levels in various tissues, and which contributes to glycolysis and ammoniagenesis. Catalyzes the first committed step in the biosynthesis of AMP from IMP. {ECO:0000269|PubMed:26506222}.
uniprot
proteins
mass_dalton
50208
uniprot
proteins
pathway_participation
PATHWAY: Purine metabolism; AMP biosynthesis via de novo pathway; AMP from IMP: step 1/2. {ECO:0000255|HAMAP-Rule:MF_03126, ECO:0000269|PubMed:26506222}.
uniprot
proteins
protein_family
Adenylosuccinate synthetase family
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15786719
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
26506222
uniprot
proteins
sequence_length
457
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000255|HAMAP-Rule:MF_03126, ECO:0000269|PubMed:15786719}.
uniprot
proteins