KEGG   Homo sapiens (human): 270
Entry
270               CDS       T01001                                 

Gene name
AMPD1, MAD, MADA, MMDD
Definition
(RefSeq) adenosine monophosphate deaminase 1
  KO
K01490  AMP deaminase [EC:3.5.4.6]
Organism
hsa  Homo sapiens (human)
Pathway
hsa00230  Purine metabolism
hsa01100  Metabolic pathways
Disease
H02237  AMP deaminase deficiency
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09100 Metabolism
  09104 Nucleotide metabolism
   00230 Purine metabolism
    270 (AMPD1)
Enzymes [BR:hsa01000]
 3. Hydrolases
  3.5  Acting on carbon-nitrogen bonds, other than peptide bonds
   3.5.4  In cyclic amidines
    3.5.4.6  AMP deaminase
     270 (AMPD1)
SSDB
Motif
Pfam: A_deaminase
Other DBs
NCBI-GeneID: 270
NCBI-ProteinID: NP_001166097
OMIM: 102770
HGNC: 468
Ensembl: ENSG00000116748
Vega: OTTHUMG00000011892
Pharos: P23109(Tchem)
UniProt: P23109
Position
1p13.2
AA seq 743 aa
MPLFKLPEIDDAMRNFAEKVFASEVKDEGGRQEISPFDVDEICPISHHEMQAHIFHLETL
STSTEARRKKRFQGRKTVNLSIPLSETSSTKLSHIDEYISSSPTYQTVPDFQRVQITGDY
ASGVTVEDFEIVCKGLYRALCIREKYMQKSFQRFPKTPSKYLRNIDGEAWVANESFYPVF
TPPVKKGEDPFRTDNLPENLGYHLKMKDGVVYVYPNEAAVSKDEPKPLPYPNLDTFLDDM
NFLLALIAQGPVKTYTHRRLKFLSSKFQVHQMLNEMDELKELKNNPHRDFYNCRKVDTHI
HAAACMNQKHLLRFIKKSYQIDADRVVYSTKEKNLTLKELFAKLKMHPYDLTVDSLDVHA
GRQTFQRFDKFNDKYNPVGASELRDLYLKTDNYINGEYFATIIKEVGADLVEAKYQHAEP
RLSIYGRSPDEWSKLSSWFVCNRIHCPNMTWMIQVPRIYDVFRSKNFLPHFGKMLENIFM
PVFEATINPQADPELSVFLKHITGFDSVDDESKHSGHMFSSKSPKPQEWTLEKNPSYTYY
AYYMYANIMVLNSLRKERGMNTFLFRPHCGEAGALTHLMTAFMIADDISHGLNLKKSPVL
QYLFFLAQIPIAMSPLSNNSLFLEYAKNPFLDFLQKGLMISLSTDDPMQFHFTKEPLMEE
YAIAAQVFKLSTCDMCEVARNSVLQCGISHEEKVKFLGDNYLEEGPAGNDIRRTNVAQIR
MAYRYETWCYELNLIAEGLKSTE
NT seq 2232 nt   +upstreamnt  +downstreamnt
atgcctctgttcaaactcccagaaattgatgatgcaatgcgcaactttgctgaaaaagtg
tttgcctctgaagtcaaagatgaaggaggtcgtcaggagatttccccctttgatgtggat
gagatctgtccgatttctcatcatgagatgcaagcacacatattccatctggagactctg
tccacctccacagaagccaggagaaaaaagcgtttccaaggacggaagactgttaatttg
tccattccactaagtgaaacatcttccaccaaactgtcccacattgatgaatacatttcc
tcatctccaacctaccagaccgtgcctgattttcagagagtgcagattactggtgactat
gcctctggggttacagttgaagattttgaaattgtttgcaaaggtctgtatcgggcacta
tgcatacgtgagaaatacatgcagaagtcgtttcagaggttccctaaaaccccttccaaa
tacttgcggaacattgatggtgaggcttgggtagcaaatgagagcttctatccagtcttt
actcctcctgtgaagaagggagaggaccccttccgaacagacaaccttcctgaaaacctg
ggctatcacctcaaaatgaaggacggtgtagtttacgtctatcctaatgaagcagcagtc
agcaaagatgagcctaagccacttccttacccaaatctggacaccttcttagacgatatg
aattttttacttgctttaattgctcaaggacctgttaagacctatacccaccggcgcctg
aagttcctctcctccaagttccaggtccatcagatgcttaacgagatggacgagttaaag
gagctgaaaaacaacccccaccgagatttttataactgcaggaaggtggacacccatatc
catgcagccgcttgcatgaaccagaaacatctgctgcgttttattaagaaatcttaccaa
attgatgctgacagagtggtctatagcaccaaagagaagaatctgaccctaaaggaactt
tttgctaaattaaaaatgcatccttatgacctgactgttgattctctggatgttcatgct
ggacgccagaccttccagcgttttgataagttcaatgacaaatataatcctgtaggagca
agtgagctacgggacctctacttgaagacagacaattacattaatggggaatattttgcc
actatcatcaaggaggtaggtgcggacctggtggaggccaagtaccagcatgctgagccc
cgcctgtccatctatggccgcagtcctgatgagtggagcaaactctcctcctggttcgtc
tgcaatcgcatccactgccccaacatgacatggatgatccaggttcccaggatctatgat
gtgttccgttccaagaatttccttccacattttggaaaaatgctggagaatattttcatg
ccagtgtttgaggccaccatcaacccccaggctgacccagaactcagtgtcttcctcaag
catatcactggctttgacagtgtggatgatgagtccaaacacagtggccacatgttctcc
tccaagagtcccaagccccaggagtggacattggaaaagaatccatcttacacttactat
gcctactacatgtatgcaaacatcatggtgctcaacagcctgagaaaggaacgaggcatg
aatacgtttctgttccgacctcactgtggagaagctggagccctcacccatctcatgaca
gcattcatgatagcagatgatatctctcatggcctaaatttaaaaaagagtcccgtgcta
cagtacttgtttttcttagcccaaattcccatcgccatgtcaccactaagtaacaatagc
ctatttctagagtatgccaaaaatccttttttggatttccttcagaaagggctaatgatc
tcactgtctacagatgacccaatgcaattccactttaccaaggagcccctaatggaagaa
tatgctattgctgcacaagtcttcaagctgagcacctgtgatatgtgcgaagtggcaagg
aacagtgtcttgcagtgtggaatttctcatgaggagaaagtaaagtttctgggcgacaat
taccttgaggaaggccctgctggaaatgatatccggaggacaaatgtagcccaaatccgc
atggcctatcgctatgaaacctggtgttatgaactcaatttaattgctgagggtcttaaa
tcaacagaataa

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