Homo sapiens (human): 122622
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Entry
122622 CDS
T01001
Symbol
ADSS1, ADSSL1, MPD5
Name
(RefSeq) adenylosuccinate synthase 1
KO
K01939
adenylosuccinate synthase [EC:
6.3.4.4
]
Organism
hsa
Homo sapiens (human)
Pathway
hsa00230
Purine metabolism
hsa00250
Alanine, aspartate and glutamate metabolism
hsa01100
Metabolic pathways
hsa01232
Nucleotide metabolism
hsa01240
Biosynthesis of cofactors
Module
hsa_M00049
Adenine ribonucleotide biosynthesis, IMP => ADP,ATP
Disease
H00594
Distal myopathy
Brite
KEGG Orthology (KO) [BR:
hsa00001
]
09100 Metabolism
09104 Nucleotide metabolism
00230 Purine metabolism
122622 (ADSS1)
09105 Amino acid metabolism
00250 Alanine, aspartate and glutamate metabolism
122622 (ADSS1)
Enzymes [BR:
hsa01000
]
6. Ligases
6.3 Forming carbon-nitrogen bonds
6.3.4 Other carbon-nitrogen ligases
6.3.4.4 adenylosuccinate synthase
122622 (ADSS1)
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Gene cluster
GFIT
Motif
Pfam:
Adenylsucc_synt
MBF1
DUF5442
Motif
Other DBs
NCBI-GeneID:
122622
NCBI-ProteinID:
NP_689541
OMIM:
612498
HGNC:
20093
Ensembl:
ENSG00000185100
UniProt:
Q8N142
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Position
14:104724229..104747325
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AA seq
457 aa
AA seq
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MSGTRASNDRPPGAGGVKRGRLQQEAAATGSRVTVVLGAQWGDEGKGKVVDLLATDADII
SRCQGGNNAGHTVVVDGKEYDFHLLPSGIINTKAVSFIGNGVVIHLPGLFEEAEKNEKKG
LKDWEKRLIISDRAHLVFDFHQAVDGLQEVQRQAQEGKNIGTTKKGIGPTYSSKAARTGL
RICDLLSDFDEFSSRFKNLAHQHQSMFPTLEIDIEGQLKRLKGFAERIRPMVRDGVYFMY
EALHGPPKKILVEGANAALLDIDFGTYPFVTSSNCTVGGVCTGLGIPPQNIGDVYGVVKA
YTTRVGIGAFPTEQINEIGGLLQTRGHEWGVTTGRKRRCGWLDLMILRYAHMVNGFTALA
LTKLDILDVLGEVKVGVSYKLNGKRIPYFPANQEMLQKVEVEYETLPGWKADTTGARRWE
DLPPQAQNYIRFVENHVGVAVKWVGVGKSRESMIQLF
NT seq
1374 nt
NT seq
+upstream
nt +downstream
nt
atgtcggggacccgagcctccaacgaccggccccccggcgcaggcggcgtcaagcggggg
cggctgcagcaggaggcggcggcgaccggctcccgcgtgacggtggtgctgggcgcgcag
tggggggacgagggcaaaggcaaggtggtggacctgctggccacggacgccgacatcatc
agccgctgccaggggggcaacaacgccggccacacggtggtggtggatgggaaagagtac
gacttccacctgctgcccagcggcatcatcaacaccaaggccgtgtccttcattggcaac
ggggtggtcatccacttgccaggcttgtttgaggaagcagagaagaatgaaaagaaaggc
ctgaaggactgggagaagaggctcatcatctctgacagagcccaccttgtgtttgatttt
caccaggctgtcgacggacttcaggaagtgcagcgccaggcacaagaggggaagaatata
ggcaccaccaagaagggaatcggaccaacctactcttccaaagctgcccggacaggcctc
cgcatctgcgacctcctgtcagattttgatgagttttcctccagattcaagaacctggcc
caccagcaccagtcgatgttccccaccctggaaatagacattgaaggccaactcaaaagg
ctcaagggctttgctgagcggatcagacccatggtccgagatggtgtttactttatgtat
gaggcactccacggcccccccaagaagatcctggtggagggtgccaacgccgccctcctc
gacattgacttcgggacctacccctttgtgacttcatccaactgcaccgtgggcggtgtg
tgcacgggcctgggcatccccccgcagaacataggtgacgtgtatggcgtggtgaaagcc
tataccacacgtgtgggcatcggggccttccccaccgagcagatcaacgagattggaggc
ctgctgcagacccgcggccacgagtggggagtgaccacaggcaggaagaggcgctgcggc
tggctcgacctgatgattctaagatatgctcacatggtcaacggattcactgcgctggcc
ctgacgaagctggacatcctggacgtactgggtgaggttaaagtcggtgtctcatacaag
ctgaacgggaaaaggattccctatttcccagctaaccaggagatgcttcagaaggtcgaa
gttgagtatgaaacgctgcctgggtggaaagcagacaccacaggcgccaggaggtgggag
gacctgcccccacaggcccagaactacatccgctttgtggagaatcacgtgggagtcgca
gtcaaatgggttggtgttggcaagtcaagagagtcgatgatccagctgttttag
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