Entry |
|
Gene name |
AMPD2, PCH9, SPG63
|
Definition |
(RefSeq) adenosine monophosphate deaminase 2
|
KO |
|
Organism |
|
Pathway |
| Purine metabolism | | Metabolic pathways |
|
Disease |
| Hereditary spastic paraplegia (SPG) | | Pontocerebellar hypoplasia |
|
Brite |
KEGG Orthology (KO) [BR:hsa00001]
Metabolism
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)
 |
SSDB |
   |
Motif |
 |
Other DBs |
NCBI-GeneID: NCBI-ProteinID: OMIM: HGNC: Ensembl: Vega: Pharos: UniProt: |
Position |
1p13.3
|
AA seq |
879 aa  
MRNRGQGLFRLRSRCFLHQSLPLGAGRRKGLDVAEPGPSRCRSDSPAVAAVVPAMASYPS
GSGKPKAKYPFKKRASLQASTAAPEARGGLGAPPLQSARSLPGPAPCLKHFPLDLRTSMD
GKCKEIAEELFTRSLAESELRSAPYEFPEESPIEQLEERRQRLERQISQDVKLEPDILLR
AKQDFLKTDSDSDLQLYKEQGEGQGDRSLRERDVLEREFQRVTISGEEKCGVPFTDLLDA
AKSVVRALFIREKYMALSLQSFCPTTRRYLQQLAEKPLETRTYEQGPDTPVSADAPVHPP
ALEQHPYEHCEPSTMPGDLGLGLRMVRGVVHVYTRREPDEHCSEVELPYPDLQEFVADVN
VLMALIINGPIKSFCYRRLQYLSSKFQMHVLLNEMKELAAQKKVPHRDFYNIRKVDTHIH
ASSCMNQKHLLRFIKRAMKRHLEEIVHVEQGREQTLREVFESMNLTAYDLSVDTLDVHAD
RNTFHRFDKFNAKYNPIGESVLREIFIKTDNRVSGKYFAHIIKEVMSDLEESKYQNAELR
LSIYGRSRDEWDKLARWAVMHRVHSPNVRWLVQVPRLFDVYRTKGQLANFQEMLENIFLP
LFEATVHPASHPELHLFLEHVDGFDSVDDESKPENHVFNLESPLPEAWVEEDNPPYAYYL
YYTFANMAMLNHLRRQRGFHTFVLRPHCGEAGPIHHLVSAFMLAENISHGLLLRKAPVLQ
YLYYLAQIGIAMSPLSNNSLFLSYHRNPLPEYLSRGLMVSLSTDDPLQFHFTKEPLMEEY
SIATQVWKLSSCDMCELARNSVLMSGFSHKVKSHWLGPNYTKEGPEGNDIRRTNVPDIRV
GYRYETLCQELALITQAVQSEMLETIPEEAGITMSPGPQ |
NT seq |
2640 nt  +upstreamnt +downstreamnt
atgagaaatcgtggccagggcctcttccgcctgcggagccgctgcttcctgcatcagtca
ctcccgctgggggcggggcggaggaaggggttggatgtggcagagccaggccccagccgg
tgccgctcagactcccccgctgtcgccgccgtggtcccagccatggcatcctatccatct
ggctctggcaagcccaaggccaaatatccctttaagaagcgggccagcctgcaggcctcc
actgcagctccagaggctcggggtggtctgggggcccctccgctgcagtctgcccgatcc
ctgccgggccccgccccctgcctcaagcacttcccgctcgacctgcgcacgtctatggat
ggcaaatgcaaggagatcgccgaggagctgttcacccgctcactggctgagagcgagctc
cgtagtgccccgtatgagttccccgaggagagccccattgaacagctggaggagcggcgg
cagcggctggagcggcagatcagccaggatgtcaagctggagccagacatcctgcttcgg
gccaagcaagatttcctgaagacggacagtgactcggacctacagctctacaaggaacag
ggtgaggggcagggtgaccggagcctgcgggagcgtgatgtgctggaacgggagtttcag
cgggtcaccatctctggggaggagaagtgtggggtgccgttcacagacctgctggatgca
gccaagagtgtggtgcgggcgctcttcatccgggagaagtacatggccctgtccctgcag
agcttctgccccaccacccgccgctacctgcagcagctggctgaaaagcctctggagacc
cggacctatgaacagggccccgacacccctgtgtctgctgatgccccggtgcacccccct
gcgctggagcagcacccgtatgagcactgtgagccaagcaccatgcctggggacctgggc
ttgggtctgcgcatggtgcggggtgtggtgcacgtctacacccgcagggaacccgacgag
cattgctcagaggtggagctgccataccctgacctgcaggaatttgtggctgacgtcaat
gtgctgatggccctgattatcaatggccccataaagtcattctgctaccgccggctgcag
tacctgagctccaagttccagatgcatgtgctactcaatgagatgaaggagctggccgcc
cagaagaaagtgccacaccgagatttctacaacatccgcaaggtggacacccacatccat
gcctcgtcctgcatgaaccagaagcatctgctgcgcttcatcaagcgggcaatgaagcgg
cacctggaggagatcgtgcacgtggagcagggccgtgaacagacgctgcgggaggtcttt
gagagcatgaatctcacggcctacgacctgagtgtggacacgctggatgtgcatgcggac
aggaacactttccatcgctttgacaagtttaatgccaaatacaaccctattggggagtcc
gtcctccgagagatcttcatcaagacggacaacagggtatctgggaagtactttgctcac
atcatcaaggaggtgatgtcagacctggaggagagcaaataccagaatgcagagctgcgg
ctctccatttacgggcgctcgagggatgagtgggacaagctggcgcgctgggccgtcatg
caccgcgtgcactcccccaacgtgcgctggctggtgcaggtgccccgcctctttgatgtg
taccgtaccaagggccagctggccaacttccaggagatgctggagaacatcttcctgcca
ctgttcgaggccactgtgcaccctgccagccacccggaactgcatctcttcttagagcac
gtggatggttttgacagcgtggatgatgagtccaagcctgaaaaccatgtcttcaacctg
gagagccccctgcctgaggcgtgggtggaggaggacaacccaccctatgcctactacctg
tactacacctttgccaacatggccatgttgaaccacctgcgcaggcagaggggcttccac
acgtttgtgctgaggccacactgtggggaggctgggcccatccaccacctggtgtcagcc
ttcatgctggctgagaacatttcccacgggctccttctgcgcaaggcccccgtcctgcag
tacctgtactacctggcccagatcggcatcgccatgtctccgctcagcaacaacagcctc
ttcctcagctatcaccggaatccgctaccggagtacctgtcccgcggcctcatggtctcc
ctgtccactgatgatcccttgcagttccacttcaccaaggagccgctgatggaggagtac
agcatcgccacccaggtgtggaagctcagctcctgcgatatgtgtgagctggcccgcaac
agcgtgctcatgagcggcttctcgcacaaggtaaagagccactggctgggacccaactat
accaaggaaggccctgaggggaatgacatccgccggaccaatgtgccagacatccgcgtg
ggctaccgctacgagaccctgtgccaggagctggcgctcatcacgcaggcagtccagagt
gagatgctggagaccattccagaggaggcgggtatcaccatgagcccagggcctcaatga |