Homo sapiens (human): 270 Help Entry 270               CDS       T01001                                  Symbol AMPD1, MAD, MADA, MMDD Name (RefSeq) AMP deaminase 1 isoform 1   KO K01490   AMP deaminase [EC:3.5.4.6] Organism hsa  Homo sapiens (human) Pathway hsa00230   Purine metabolism hsa01100   Metabolic pathways hsa01232   Nucleotide metabolism hsa04820   Cytoskeleton in muscle cells Module hsa_M00958   Adenine ribonucleotide degradation, AMP => Urate Disease H02237   AMP deaminase deficiency Brite KEGG Orthology (KO) [BR:hsa00001]  09100 Metabolism   09104 Nucleotide metabolism    00230 Purine metabolism     270 (AMPD1)  09140 Cellular Processes   09142 Cell motility    04820 Cytoskeleton in muscle cells     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 OrthologParalogGFIT Motif Pfam:  AMP_deaminase A_deaminase Motif Other DBs NCBI-GeneID:  270 NCBI-ProteinID:  NP_000027 OMIM:  102770 HGNC:  468 Ensembl:  ENSP00000430075.3 UniProt:  P23109 LinkDB All DBs Position 1:complement(114673098..114695546) Genome browser AA seq 747 aa AA seqDB search MPLFKLPAEEKQIDDAMRNFAEKVFASEVKDEGGRQEISPFDVDEICPISHHEMQAHIFH LETLSTSTEARRKKRFQGRKTVNLSIPLSETSSTKLSHIDEYISSSPTYQTVPDFQRVQI TGDYASGVTVEDFEIVCKGLYRALCIREKYMQKSFQRFPKTPSKYLRNIDGEAWVANESF YPVFTPPVKKGEDPFRTDNLPENLGYHLKMKDGVVYVYPNEAAVSKDEPKPLPYPNLDTF LDDMNFLLALIAQGPVKTYTHRRLKFLSSKFQVHQMLNEMDELKELKNNPHRDFYNCRKV DTHIHAAACMNQKHLLRFIKKSYQIDADRVVYSTKEKNLTLKELFAKLKMHPYDLTVDSL DVHAGRQTFQRFDKFNDKYNPVGASELRDLYLKTDNYINGEYFATIIKEVGADLVEAKYQ HAEPRLSIYGRSPDEWSKLSSWFVCNRIHCPNMTWMIQVPRIYDVFRSKNFLPHFGKMLE NIFMPVFEATINPQADPELSVFLKHITGFDSVDDESKHSGHMFSSKSPKPQEWTLEKNPS YTYYAYYMYANIMVLNSLRKERGMNTFLFRPHCGEAGALTHLMTAFMIADDISHGLNLKK SPVLQYLFFLAQIPIAMSPLSNNSLFLEYAKNPFLDFLQKGLMISLSTDDPMQFHFTKEP LMEEYAIAAQVFKLSTCDMCEVARNSVLQCGISHEEKVKFLGDNYLEEGPAGNDIRRTNV AQIRMAYRYETWCYELNLIAEGLKSTE NT seq 2244 nt NT seq  +upstreamnt  +downstreamnt atgcctctgttcaaactcccagctgaagagaaacaaattgatgatgcaatgcgcaacttt gctgaaaaagtgtttgcctctgaagtcaaagatgaaggaggtcgtcaggagatttccccc tttgatgtggatgagatctgtccgatttctcatcatgagatgcaagcacacatattccat ctggagactctgtccacctccacagaagccaggagaaaaaagcgtttccaaggacggaag actgttaatttgtccattccactaagtgaaacatcttccaccaaactgtcccacattgat gaatacatttcctcatctccaacctaccagaccgtgcctgattttcagagagtgcagatt actggtgactatgcctctggggttacagttgaagattttgaaattgtttgcaaaggtctg tatcgggcactatgcatacgtgagaaatacatgcagaagtcgtttcagaggttccctaaa accccttccaaatacttgcggaacattgatggtgaggcttgggtagcaaatgagagcttc tatccagtctttactcctcctgtgaagaagggagaggaccccttccgaacagacaacctt cctgaaaacctgggctatcacctcaaaatgaaggacggtgtagtttacgtctatcctaat gaagcagcagtcagcaaagatgagcctaagccacttccttacccaaatctggacaccttc ttagacgatatgaattttttacttgctttaattgctcaaggacctgttaagacctatacc caccggcgcctgaagttcctctcctccaagttccaggtccatcagatgcttaacgagatg gacgagttaaaggagctgaaaaacaacccccaccgagatttttataactgcaggaaggtg gacacccatatccatgcagccgcttgcatgaaccagaaacatctgctgcgttttattaag aaatcttaccaaattgatgctgacagagtggtctatagcaccaaagagaagaatctgacc ctaaaggaactttttgctaaattaaaaatgcatccttatgacctgactgttgattctctg gatgttcatgctggacgccagaccttccagcgttttgataagttcaatgacaaatataat cctgtaggagcaagtgagctacgggacctctacttgaagacagacaattacattaatggg gaatattttgccactatcatcaaggaggtaggtgcggacctggtggaggccaagtaccag catgctgagccccgcctgtccatctatggccgcagtcctgatgagtggagcaaactctcc tcctggttcgtctgcaatcgcatccactgccccaacatgacatggatgatccaggttccc aggatctatgatgtgttccgttccaagaatttccttccacattttggaaaaatgctggag aatattttcatgccagtgtttgaggccaccatcaacccccaggctgacccagaactcagt gtcttcctcaagcatatcactggctttgacagtgtggatgatgagtccaaacacagtggc cacatgttctcctccaagagtcccaagccccaggagtggacattggaaaagaatccatct tacacttactatgcctactacatgtatgcaaacatcatggtgctcaacagcctgagaaag gaacgaggcatgaatacgtttctgttccgacctcactgtggagaagctggagccctcacc catctcatgacagcattcatgatagcagatgatatctctcatggcctaaatttaaaaaag agtcccgtgctacagtacttgtttttcttagcccaaattcccatcgccatgtcaccacta agtaacaatagcctatttctagagtatgccaaaaatccttttttggatttccttcagaaa gggctaatgatctcactgtctacagatgacccaatgcaattccactttaccaaggagccc ctaatggaagaatatgctattgctgcacaagtcttcaagctgagcacctgtgatatgtgc gaagtggcaaggaacagtgtcttgcagtgtggaatttctcatgaggagaaagtaaagttt ctgggcgacaattaccttgaggaaggccctgctggaaatgatatccggaggacaaatgta gcccaaatccgcatggcctatcgctatgaaacctggtgttatgaactcaatttaattgct gagggtcttaaatcaacagaataa

Homo sapiens (human): 271 Help Entry 271               CDS       T01001                                  Symbol AMPD2, AMPD, PCH9, SPG63 Name (RefSeq) AMP deaminase 2 isoform 1   KO K01490   AMP deaminase [EC:3.5.4.6] Organism hsa  Homo sapiens (human) Pathway hsa00230   Purine metabolism hsa01100   Metabolic pathways hsa01232   Nucleotide metabolism hsa04820   Cytoskeleton in muscle cells Module hsa_M00958   Adenine ribonucleotide degradation, AMP => Urate Disease H00266   Hereditary spastic paraplegia H00897   Pontocerebellar hypoplasia Brite KEGG Orthology (KO) [BR:hsa00001]  09100 Metabolism   09104 Nucleotide metabolism    00230 Purine metabolism     271 (AMPD2)  09140 Cellular Processes   09142 Cell motility    04820 Cytoskeleton in muscle cells     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 OrthologParalogGFIT Motif Pfam:  AMP_deaminase A_deaminase Motif Other DBs NCBI-GeneID:  271 NCBI-ProteinID:  NP_001355738 OMIM:  102771 HGNC:  469 Ensembl:  ENSP00000436541.2 UniProt:  Q01433 Structure PDBPDBj LinkDB All DBs Position 1:109619837..109632055 Genome browser 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

Homo sapiens (human): 272 Help Entry 272               CDS       T01001                                  Symbol AMPD3 Name (RefSeq) AMP deaminase 3 isoform 1B   KO K01490   AMP deaminase [EC:3.5.4.6] Organism hsa  Homo sapiens (human) Pathway hsa00230   Purine metabolism hsa01100   Metabolic pathways hsa01232   Nucleotide metabolism hsa04820   Cytoskeleton in muscle cells Module hsa_M00958   Adenine ribonucleotide degradation, AMP => Urate Disease H02237   AMP deaminase deficiency Brite KEGG Orthology (KO) [BR:hsa00001]  09100 Metabolism   09104 Nucleotide metabolism    00230 Purine metabolism     272 (AMPD3)  09140 Cellular Processes   09142 Cell motility    04820 Cytoskeleton in muscle cells     272 (AMPD3) 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      272 (AMPD3) SSDB OrthologParalogGFIT Motif Pfam:  AMP_deaminase A_deaminase Motif Other DBs NCBI-GeneID:  272 NCBI-ProteinID:  NP_001020560 OMIM:  102772 HGNC:  470 Ensembl:  ENSP00000379801.2 UniProt:  Q01432 LinkDB All DBs Position 11:10450388..10507579 Genome browser AA seq 767 aa AA seqDB search MPRQFPKLNISEVDEQVRLLAEKVFAKVLREEDSKDALSLFTVPEDCPIGQKEAKERELQ KELAEQKSVETAKRKKSFKMIRSQSLSLQMPPQQDWKGPPAASPAMSPTTPVVTGATSLP TPAPYAMPEFQRVTISGDYCAGITLEDYEQAAKSLAKALMIREKYARLAYHRFPRITSQY LGHPRADTAPPEEGLPDFHPPPLPQEDPYCLDDAPPNLDYLVHMQGGILFVYDNKKMLEH QEPHSLPYPDLETYTVDMSHILALITDGPTKTYCHRRLNFLESKFSLHEMLNEMSEFKEL KSNPHRDFYNVRKVDTHIHAAACMNQKHLLRFIKHTYQTEPDRTVAEKRGRKITLRQVFD GLHMDPYDLTVDSLDVHAGRQTFHRFDKFNSKYNPVGASELRDLYLKTENYLGGEYFARM VKEVARELEESKYQYSEPRLSIYGRSPEEWPNLAYWFIQHKVYSPNMRWIIQVPRIYDIF RSKKLLPNFGKMLENIFLPLFKATINPQDHRELHLFLKYVTGFDSVDDESKHSDHMFSDK SPNPDVWTSEQNPPYSYYLYYMYANIMVLNNLRRERGLSTFLFRPHCGEAGSITHLVSAF LTADNISHGLLLKKSPVLQYLYYLAQIPIAMSPLSNNSLFLEYSKNPLREFLHKGLHVSL STDDPMQFHYTKEALMEEYAIAAQVWKLSTCDLCEIARNSVLQSGLSHQEKQKFLGQNYY KEGPEGNDIRKTNVAQIRMAFRYETLCNELSFLSDAMKSEEITALTN NT seq 2304 nt NT seq  +upstreamnt  +downstreamnt atgccgcggcagtttcccaagctgaacatctctgaagtggatgagcaagtccggctcctg gcggagaaggtgtttgctaaagtgctccgagaagaggacagcaaagatgccctgtccctg ttcactgtcccagaggactgccccatcgggcaaaaggaagccaaggagagggagctgcag aaggagctggcagagcagaagtctgtggagaccgcaaaaagaaagaaaagtttcaagatg attcggtcccagtccctgtctctgcaaatgccgccacagcaagattggaagggccccccg gcagccagtccggccatgtctcccacaacccctgtggtcactggagccacttccctgccc acgccagcaccctatgccatgcctgagttccagcgggtcaccatcagcggagattactgt gccgggatcactttggaggactatgagcaggcagccaagagtctggccaaggccctaatg atccgggagaagtatgcgcggctcgcctaccaccgcttcccgcggatcacatcccagtac ctgggtcatccgcgggcggatactgcacctccggaagagggccttccagacttccaccct cctccactgccccaggaagacccctactgcctggatgatgcaccccccaacctggattac ttggtccacatgcaggggggcatcctctttgtgtatgataacaagaagatgctggagcac caggagccgcacagcctaccctaccccgacctggagacctacacggtggacatgagccac atcctggctctcatcaccgatggccccacgaaaacctattgtcaccggcgactgaacttt ctggaatccaagttcagccttcatgagatgttaaacgaaatgtccgagttcaaagagttg aagagtaacccccaccgggacttctataacgtgagaaaggtggacacacacatccatgcg gccgcctgcatgaaccaaaagcatctgctgcgcttcatcaagcacacataccagacggag cctgacaggactgtggcagagaagcggggccggaagatcaccctgcggcaggtgtttgac ggcctgcacatggacccctacgacctcactgtggactcactggatgtccacgcgggccgg cagacattccaccgctttgacaagttcaactccaaatacaaccctgtgggggccagtgag ctgcgtgacctgtatttgaaaactgaaaactatctgggaggagagtactttgctcggatg gtcaaggaggttgcccgggagctggaggagagcaagtaccagtactcagagccacggctc tccatctacggccgcagtcctgaggagtggcccaacctggcctactggttcatccagcac aaggtctactctcccaacatgcgctggatcatccaggtgccccggatttatgacatattt aggtcaaagaagctgctgccaaactttgggaagatgctggagaacatcttcctgcccctt ttcaaggccactatcaacccccaagatcatcgagagcttcacctcttccttaaatatgtg acggggtttgacagcgtggatgatgagtccaagcacagcgaccacatgttttccgacaag agcccaaacccggacgtctggaccagtgagcagaacccaccctacagctactacctgtac tacatgtatgccaacatcatggtgctcaacaacctccgcagggagcgcggcctgagcacg ttcctgttccggccgcactgtggggaagccggctccatcacccacctggtgtctgccttc ctcactgctgacaacatttcccacgggctgctcctcaagaagagtccggtattgcagtat ctctactaccttgctcagatccccattgccatgtctcctcttagcaacaacagtttgttc ctcgaatattccaagaaccctctgagggaattcctacacaagggactgcatgtttctctt tccaccgatgaccccatgcagttccactacacgaaggaagcacttatggaagaatatgcc attgcagctcaagtgtggaagctgagcacctgcgacctgtgtgagatcgccaggaacagc gtgctgcagagcggcctctcgcatcaggaaaagcaaaagtttctgggacaaaattattat aaagaaggacctgaaggaaatgatattcgaaagacaaatgtggctcagatccggatggca ttccgatatgagaccttatgcaatgagctcagcttcctgtctgatgctatgaaatcagaa gagatcaccgccttgaccaactag

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