KEGG   Homo sapiens (human): 122622
Entry
122622            CDS       T01001                                 
Symbol
ADSS1, ADSSL1, MPD5
Name
(RefSeq) adenylosuccinate synthetase isozyme 1 isoform 2
  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)
SSDB
Motif
Pfam: Adenylsucc_synt MBF1 DUF5442
Other DBs
NCBI-GeneID: 122622
NCBI-ProteinID: NP_689541
OMIM: 612498
HGNC: 20093
Ensembl: ENSP00000331260.2
UniProt: Q8N142
Position
14:104724229..104747325
AA seq 457 aa
MSGTRASNDRPPGAGGVKRGRLQQEAAATGSRVTVVLGAQWGDEGKGKVVDLLATDADII
SRCQGGNNAGHTVVVDGKEYDFHLLPSGIINTKAVSFIGNGVVIHLPGLFEEAEKNEKKG
LKDWEKRLIISDRAHLVFDFHQAVDGLQEVQRQAQEGKNIGTTKKGIGPTYSSKAARTGL
RICDLLSDFDEFSSRFKNLAHQHQSMFPTLEIDIEGQLKRLKGFAERIRPMVRDGVYFMY
EALHGPPKKILVEGANAALLDIDFGTYPFVTSSNCTVGGVCTGLGIPPQNIGDVYGVVKA
YTTRVGIGAFPTEQINEIGGLLQTRGHEWGVTTGRKRRCGWLDLMILRYAHMVNGFTALA
LTKLDILDVLGEVKVGVSYKLNGKRIPYFPANQEMLQKVEVEYETLPGWKADTTGARRWE
DLPPQAQNYIRFVENHVGVAVKWVGVGKSRESMIQLF
NT seq 1374 nt   +upstreamnt  +downstreamnt
atgtcggggacccgagcctccaacgaccggccccccggcgcaggcggcgtcaagcggggg
cggctgcagcaggaggcggcggcgaccggctcccgcgtgacggtggtgctgggcgcgcag
tggggggacgagggcaaaggcaaggtggtggacctgctggccacggacgccgacatcatc
agccgctgccaggggggcaacaacgccggccacacggtggtggtggatgggaaagagtac
gacttccacctgctgcccagcggcatcatcaacaccaaggccgtgtccttcattggcaac
ggggtggtcatccacttgccaggcttgtttgaggaagcagagaagaatgaaaagaaaggc
ctgaaggactgggagaagaggctcatcatctctgacagagcccaccttgtgtttgatttt
caccaggctgtcgacggacttcaggaagtgcagcgccaggcacaagaggggaagaatata
ggcaccaccaagaagggaatcggaccaacctactcttccaaagctgcccggacaggcctc
cgcatctgcgacctcctgtcagattttgatgagttttcctccagattcaagaacctggcc
caccagcaccagtcgatgttccccaccctggaaatagacattgaaggccaactcaaaagg
ctcaagggctttgctgagcggatcagacccatggtccgagatggtgtttactttatgtat
gaggcactccacggcccccccaagaagatcctggtggagggtgccaacgccgccctcctc
gacattgacttcgggacctacccctttgtgacttcatccaactgcaccgtgggcggtgtg
tgcacgggcctgggcatccccccgcagaacataggtgacgtgtatggcgtggtgaaagcc
tataccacacgtgtgggcatcggggccttccccaccgagcagatcaacgagattggaggc
ctgctgcagacccgcggccacgagtggggagtgaccacaggcaggaagaggcgctgcggc
tggctcgacctgatgattctaagatatgctcacatggtcaacggattcactgcgctggcc
ctgacgaagctggacatcctggacgtactgggtgaggttaaagtcggtgtctcatacaag
ctgaacgggaaaaggattccctatttcccagctaaccaggagatgcttcagaaggtcgaa
gttgagtatgaaacgctgcctgggtggaaagcagacaccacaggcgccaggaggtgggag
gacctgcccccacaggcccagaactacatccgctttgtggagaatcacgtgggagtcgca
gtcaaatgggttggtgttggcaagtcaagagagtcgatgatccagctgttttag

  All links  
Disease (2)   
   OMIM (2)   
Gene (9)   
   RefGene (2)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   RIKEN BRC-DNA (2)   
   OC (1)   
Protein sequence (13)   
   UniProt (1)   
   SWISS-PROT (1)   
   RefSeq(pep) (11)   
DNA sequence (31)   
   RefSeq(nuc) (11)   
   GenBank (10)   
   EMBL (10)   
Protein domain (3)   
   Pfam (3)   
All databases (58)   

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