KEGG   Homo sapiens (human): 271Help
Entry
271               CDS       T01001                                 

Gene name
AMPD2, PCH9, SPG63
Definition
(RefSeq) adenosine monophosphate deaminase 2
  KO
K01490  AMP deaminase [EC:3.5.4.6]
Organism
hsa  Homo sapiens (human)
Pathway
hsa00230  Purine metabolism
hsa01100  Metabolic pathways
Disease
H00266  Hereditary spastic paraplegia
H00897  Pontocerebellar hypoplasia
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09100 Metabolism
  09104 Nucleotide metabolism
   00230 Purine metabolism
    271 (AMPD2)
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
     271 (AMPD2)
BRITE hierarchy
SSDB OrthologParalogGFIT
Motif
Pfam: A_deaminase
Motif
Other DBs
NCBI-GeneID: 271
NCBI-ProteinID: NP_004028
OMIM: 102771
HGNC: 469
Ensembl: ENSG00000116337
Vega: OTTHUMG00000011649
Pharos: Q01433(Tchem)
UniProt: Q01433 A0A024R098
Position
1p13.3
AA seq 825 aa AA seqDB search
MASYPSGSGKPKAKYPFKKRASLQASTAAPEARGGLGAPPLQSARSLPGPAPCLKHFPLD
LRTSMDGKCKEIAEELFTRSLAESELRSAPYEFPEESPIEQLEERRQRLERQISQDVKLE
PDILLRAKQDFLKTDSDSDLQLYKEQGEGQGDRSLRERDVLEREFQRVTISGEEKCGVPF
TDLLDAAKSVVRALFIREKYMALSLQSFCPTTRRYLQQLAEKPLETRTYEQGPDTPVSAD
APVHPPALEQHPYEHCEPSTMPGDLGLGLRMVRGVVHVYTRREPDEHCSEVELPYPDLQE
FVADVNVLMALIINGPIKSFCYRRLQYLSSKFQMHVLLNEMKELAAQKKVPHRDFYNIRK
VDTHIHASSCMNQKHLLRFIKRAMKRHLEEIVHVEQGREQTLREVFESMNLTAYDLSVDT
LDVHADRNTFHRFDKFNAKYNPIGESVLREIFIKTDNRVSGKYFAHIIKEVMSDLEESKY
QNAELRLSIYGRSRDEWDKLARWAVMHRVHSPNVRWLVQVPRLFDVYRTKGQLANFQEML
ENIFLPLFEATVHPASHPELHLFLEHVDGFDSVDDESKPENHVFNLESPLPEAWVEEDNP
PYAYYLYYTFANMAMLNHLRRQRGFHTFVLRPHCGEAGPIHHLVSAFMLAENISHGLLLR
KAPVLQYLYYLAQIGIAMSPLSNNSLFLSYHRNPLPEYLSRGLMVSLSTDDPLQFHFTKE
PLMEEYSIATQVWKLSSCDMCELARNSVLMSGFSHKVKSHWLGPNYTKEGPEGNDIRRTN
VPDIRVGYRYETLCQELALITQAVQSEMLETIPEEAGITMSPGPQ
NT seq 2478 nt NT seq  +upstreamnt  +downstreamnt
atggcatcctatccatctggctctggcaagcccaaggccaaatatccctttaagaagcgg
gccagcctgcaggcctccactgcagctccagaggctcggggtggtctgggggcccctccg
ctgcagtctgcccgatccctgccgggccccgccccctgcctcaagcacttcccgctcgac
ctgcgcacgtctatggatggcaaatgcaaggagatcgccgaggagctgttcacccgctca
ctggctgagagcgagctccgtagtgccccgtatgagttccccgaggagagccccattgaa
cagctggaggagcggcggcagcggctggagcggcagatcagccaggatgtcaagctggag
ccagacatcctgcttcgggccaagcaagatttcctgaagacggacagtgactcggaccta
cagctctacaaggaacagggtgaggggcagggtgaccggagcctgcgggagcgtgatgtg
ctggaacgggagtttcagcgggtcaccatctctggggaggagaagtgtggggtgccgttc
acagacctgctggatgcagccaagagtgtggtgcgggcgctcttcatccgggagaagtac
atggccctgtccctgcagagcttctgccccaccacccgccgctacctgcagcagctggct
gaaaagcctctggagacccggacctatgaacagggccccgacacccctgtgtctgctgat
gccccggtgcacccccctgcgctggagcagcacccgtatgagcactgtgagccaagcacc
atgcctggggacctgggcttgggtctgcgcatggtgcggggtgtggtgcacgtctacacc
cgcagggaacccgacgagcattgctcagaggtggagctgccataccctgacctgcaggaa
tttgtggctgacgtcaatgtgctgatggccctgattatcaatggccccataaagtcattc
tgctaccgccggctgcagtacctgagctccaagttccagatgcatgtgctactcaatgag
atgaaggagctggccgcccagaagaaagtgccacaccgagatttctacaacatccgcaag
gtggacacccacatccatgcctcgtcctgcatgaaccagaagcatctgctgcgcttcatc
aagcgggcaatgaagcggcacctggaggagatcgtgcacgtggagcagggccgtgaacag
acgctgcgggaggtctttgagagcatgaatctcacggcctacgacctgagtgtggacacg
ctggatgtgcatgcggacaggaacactttccatcgctttgacaagtttaatgccaaatac
aaccctattggggagtccgtcctccgagagatcttcatcaagacggacaacagggtatct
gggaagtactttgctcacatcatcaaggaggtgatgtcagacctggaggagagcaaatac
cagaatgcagagctgcggctctccatttacgggcgctcgagggatgagtgggacaagctg
gcgcgctgggccgtcatgcaccgcgtgcactcccccaacgtgcgctggctggtgcaggtg
ccccgcctctttgatgtgtaccgtaccaagggccagctggccaacttccaggagatgctg
gagaacatcttcctgccactgttcgaggccactgtgcaccctgccagccacccggaactg
catctcttcttagagcacgtggatggttttgacagcgtggatgatgagtccaagcctgaa
aaccatgtcttcaacctggagagccccctgcctgaggcgtgggtggaggaggacaaccca
ccctatgcctactacctgtactacacctttgccaacatggccatgttgaaccacctgcgc
aggcagaggggcttccacacgtttgtgctgaggccacactgtggggaggctgggcccatc
caccacctggtgtcagccttcatgctggctgagaacatttcccacgggctccttctgcgc
aaggcccccgtcctgcagtacctgtactacctggcccagatcggcatcgccatgtctccg
ctcagcaacaacagcctcttcctcagctatcaccggaatccgctaccggagtacctgtcc
cgcggcctcatggtctccctgtccactgatgatcccttgcagttccacttcaccaaggag
ccgctgatggaggagtacagcatcgccacccaggtgtggaagctcagctcctgcgatatg
tgtgagctggcccgcaacagcgtgctcatgagcggcttctcgcacaaggtaaagagccac
tggctgggacccaactataccaaggaaggccctgaggggaatgacatccgccggaccaat
gtgccagacatccgcgtgggctaccgctacgagaccctgtgccaggagctggcgctcatc
acgcaggcagtccagagtgagatgctggagaccattccagaggaggcgggtatcaccatg
agcccagggcctcaatga

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