AMP deaminase 1

Details

Name
AMP deaminase 1
Synonyms
  • 3.5.4.6
  • AMP deaminase isoform M
  • Myoadenylate deaminase
Gene Name
AMPD1
Organism
Humans
Amino acid sequence
>lcl|BSEQ0036996|AMP deaminase 1
MNVRIFYSVSQSPHSLLSLLFYCAILESRISATMPLFKLPAEEKQIDDAMRNFAEKVFAS
EVKDEGGRQEISPFDVDEICPISHHEMQAHIFHLETLSTSTEARRKKRFQGRKTVNLSIP
LSETSSTKLSHIDEYISSSPTYQTVPDFQRVQITGDYASGVTVEDFEIVCKGLYRALCIR
EKYMQKSFQRFPKTPSKYLRNIDGEAWVANESFYPVFTPPVKKGEDPFRTDNLPENLGYH
LKMKDGVVYVYPNEAAVSKDEPKPLPYPNLDTFLDDMNFLLALIAQGPVKTYTHRRLKFL
SSKFQVHQMLNEMDELKELKNNPHRDFYNCRKVDTHIHAAACMNQKHLLRFIKKSYQIDA
DRVVYSTKEKNLTLKELFAKLKMHPYDLTVDSLDVHAGRQTFQRFDKFNDKYNPVGASEL
RDLYLKTDNYINGEYFATIIKEVGADLVEAKYQHAEPRLSIYGRSPDEWSKLSSWFVCNR
IHCPNMTWMIQVPRIYDVFRSKNFLPHFGKMLENIFMPVFEATINPQADPELSVFLKHIT
GFDSVDDESKHSGHMFSSKSPKPQEWTLEKNPSYTYYAYYMYANIMVLNSLRKERGMNTF
LFRPHCGEAGALTHLMTAFMIADDISHGLNLKKSPVLQYLFFLAQIPIAMSPLSNNSLFL
EYAKNPFLDFLQKGLMISLSTDDPMQFHFTKEPLMEEYAIAAQVFKLSTCDMCEVARNSV
LQCGISHEEKVKFLGDNYLEEGPAGNDIRRTNVAQIRMAYRYETWCYELNLIAEGLKSTE
Number of residues
780
Molecular Weight
90218.455
Theoretical pI
6.89
GO Classification
Functions
AMP deaminase activity / metal ion binding
Processes
IMP salvage / nucleobase-containing small molecule metabolic process / purine nucleobase metabolic process / purine-containing compound salvage / response to organic substance / small molecule metabolic process
Components
cytosol
General Function
Metal ion binding
Specific Function
AMP deaminase plays a critical role in energy metabolism.
Pfam Domain Function
Transmembrane Regions
Not Available
Cellular Location
Cytoplasmic
Gene sequence
>lcl|BSEQ0016069|AMP deaminase 1 (AMPD1)
ATGAATGTCAGGATATTTTATAGTGTCAGTCAGTCACCCCACAGTCTCCTCTCTCTTCTT
TTCTACTGTGCTATCCTAGAATCAAGGATTTCAGCAACAATGCCTCTGTTCAAACTCCCA
GCTGAAGAGAAACAAATTGATGATGCAATGCGCAACTTTGCTGAAAAAGTGTTTGCCTCT
GAAGTCAAAGATGAAGGAGGTCGTCAGGAGATTTCCCCCTTTGATGTGGATGAGATCTGT
CCGATTTCTCATCATGAGATGCAAGCACACATATTCCATCTGGAGACTCTGTCCACCTCC
ACAGAAGCCAGGAGAAAAAAGCGTTTCCAAGGACGGAAGACTGTTAATTTGTCCATTCCA
CTAAGTGAAACATCTTCCACCAAACTGTCCCACATTGATGAATACATTTCCTCATCTCCA
ACCTACCAGACCGTGCCTGATTTTCAGAGAGTGCAGATTACTGGTGACTATGCCTCTGGG
GTTACAGTTGAAGATTTTGAAATTGTTTGCAAAGGTCTGTATCGGGCACTATGCATACGT
GAGAAATACATGCAGAAGTCGTTTCAGAGGTTCCCTAAAACCCCTTCCAAATACTTGCGG
AACATTGATGGTGAGGCTTGGGTAGCAAATGAGAGCTTCTATCCAGTCTTTACTCCTCCT
GTGAAGAAGGGAGAGGACCCCTTCCGAACAGACAACCTTCCTGAAAACCTGGGCTATCAC
CTCAAAATGAAGGACGGTGTAGTTTACGTCTATCCTAATGAAGCAGCAGTCAGCAAAGAT
GAGCCTAAGCCACTTCCTTACCCAAATCTGGACACCTTCTTAGACGATATGAATTTTTTA
CTTGCTTTAATTGCTCAAGGACCTGTTAAGACCTATACCCACCGGCGCCTGAAGTTCCTC
TCCTCCAAGTTCCAGGTCCATCAGATGCTTAACGAGATGGACGAGTTAAAGGAGCTGAAA
AACAACCCCCACCGAGATTTTTATAACTGCAGGAAGGTGGACACCCATATCCATGCAGCC
GCTTGCATGAACCAGAAACATCTGCTGCGTTTTATTAAGAAATCTTACCAAATTGATGCT
GACAGAGTGGTCTATAGCACCAAAGAGAAGAATCTGACCCTAAAGGAACTTTTTGCTAAA
TTAAAAATGCATCCTTATGACCTGACTGTTGATTCTCTGGATGTTCATGCTGGACGCCAG
ACCTTCCAGCGTTTTGATAAGTTCAATGACAAATATAATCCTGTAGGAGCAAGTGAGCTA
CGGGACCTCTACTTGAAGACAGACAATTACATTAATGGGGAATATTTTGCCACTATCATC
AAGGAGGTAGGTGCGGACCTGGTGGAGGCCAAGTACCAGCATGCTGAGCCCCGCCTGTCC
ATCTATGGCCGCAGTCCTGATGAGTGGAGCAAACTCTCCTCCTGGTTCGTCTGCAATCGC
ATCCACTGCCCCAACATGACATGGATGATCCAGGTTCCCAGGATCTATGATGTGTTCCGT
TCCAAGAATTTCCTTCCACATTTTGGAAAAATGCTGGAGAATATTTTCATGCCAGTGTTT
GAGGCCACCATCAACCCCCAGGCTGACCCAGAACTCAGTGTCTTCCTCAAGCATATCACT
GGCTTTGACAGTGTGGATGATGAGTCCAAACACAGTGGCCACATGTTCTCCTCCAAGAGT
CCCAAGCCCCAGGAGTGGACATTGGAAAAGAATCCATCTTACACTTACTATGCCTACTAC
ATGTATGCAAACATCATGGTGCTCAACAGCCTGAGAAAGGAACGAGGCATGAATACGTTT
CTGTTCCGACCTCACTGTGGAGAAGCTGGAGCCCTCACCCATCTCATGACAGCATTCATG
ATAGCAGATGATATCTCTCATGGCCTAAATTTAAAAAAGAGTCCCGTGCTACAGTACTTG
TTTTTCTTAGCCCAAATTCCCATCGCCATGTCACCACTAAGTAACAATAGCCTATTTCTA
GAGTATGCCAAAAATCCTTTTTTGGATTTCCTTCAGAAAGGGCTAATGATCTCACTGTCT
ACAGATGACCCAATGCAATTCCACTTTACCAAGGAGCCCCTAATGGAAGAATATGCTATT
GCTGCACAAGTCTTCAAGCTGAGCACCTGTGATATGTGCGAAGTGGCAAGGAACAGTGTC
TTGCAGTGTGGAATTTCTCATGAGGAGAAAGTAAAGTTTCTGGGCGACAATTACCTTGAG
GAAGGCCCTGCTGGAAATGATATCCGGAGGACAAATGTAGCCCAAATCCGCATGGCCTAT
CGCTATGAAACCTGGTGTTATGAACTCAATTTAATTGCTGAGGGTCTTAAATCAACAGAA
TAA
Chromosome Location
1
Locus
1p13
External Identifiers
ResourceLink
UniProtKB IDP23109
UniProtKB Entry NameAMPD1_HUMAN
GenBank Protein ID10864686
GenBank Gene IDM37931
GenAtlas IDAMPD1
HGNC IDHGNC:468
General References
  1. Sabina RL, Morisaki T, Clarke P, Eddy R, Shows TB, Morton CC, Holmes EW: Characterization of the human and rat myoadenylate deaminase genes. J Biol Chem. 1990 Jun 5;265(16):9423-33. [Article]
  2. Gregory SG, Barlow KF, McLay KE, Kaul R, Swarbreck D, Dunham A, Scott CE, Howe KL, Woodfine K, Spencer CC, Jones MC, Gillson C, Searle S, Zhou Y, Kokocinski F, McDonald L, Evans R, Phillips K, Atkinson A, Cooper R, Jones C, Hall RE, Andrews TD, Lloyd C, Ainscough R, Almeida JP, Ambrose KD, Anderson F, Andrew RW, Ashwell RI, Aubin K, Babbage AK, Bagguley CL, Bailey J, Beasley H, Bethel G, Bird CP, Bray-Allen S, Brown JY, Brown AJ, Buckley D, Burton J, Bye J, Carder C, Chapman JC, Clark SY, Clarke G, Clee C, Cobley V, Collier RE, Corby N, Coville GJ, Davies J, Deadman R, Dunn M, Earthrowl M, Ellington AG, Errington H, Frankish A, Frankland J, French L, Garner P, Garnett J, Gay L, Ghori MR, Gibson R, Gilby LM, Gillett W, Glithero RJ, Grafham DV, Griffiths C, Griffiths-Jones S, Grocock R, Hammond S, Harrison ES, Hart E, Haugen E, Heath PD, Holmes S, Holt K, Howden PJ, Hunt AR, Hunt SE, Hunter G, Isherwood J, James R, Johnson C, Johnson D, Joy A, Kay M, Kershaw JK, Kibukawa M, Kimberley AM, King A, Knights AJ, Lad H, Laird G, Lawlor S, Leongamornlert DA, Lloyd DM, Loveland J, Lovell J, Lush MJ, Lyne R, Martin S, Mashreghi-Mohammadi M, Matthews L, Matthews NS, McLaren S, Milne S, Mistry S, Moore MJ, Nickerson T, O'Dell CN, Oliver K, Palmeiri A, Palmer SA, Parker A, Patel D, Pearce AV, Peck AI, Pelan S, Phelps K, Phillimore BJ, Plumb R, Rajan J, Raymond C, Rouse G, Saenphimmachak C, Sehra HK, Sheridan E, Shownkeen R, Sims S, Skuce CD, Smith M, Steward C, Subramanian S, Sycamore N, Tracey A, Tromans A, Van Helmond Z, Wall M, Wallis JM, White S, Whitehead SL, Wilkinson JE, Willey DL, Williams H, Wilming L, Wray PW, Wu Z, Coulson A, Vaudin M, Sulston JE, Durbin R, Hubbard T, Wooster R, Dunham I, Carter NP, McVean G, Ross MT, Harrow J, Olson MV, Beck S, Rogers J, Bentley DR, Banerjee R, Bryant SP, Burford DC, Burrill WD, Clegg SM, Dhami P, Dovey O, Faulkner LM, Gribble SM, Langford CF, Pandian RD, Porter KM, Prigmore E: The DNA sequence and biological annotation of human chromosome 1. Nature. 2006 May 18;441(7091):315-21. [Article]
  3. Sabina RL, Fishbein WN, Pezeshkpour G, Clarke PR, Holmes EW: Molecular analysis of the myoadenylate deaminase deficiencies. Neurology. 1992 Jan;42(1):170-9. [Article]
  4. Ota T, Suzuki Y, Nishikawa T, Otsuki T, Sugiyama T, Irie R, Wakamatsu A, Hayashi K, Sato H, Nagai K, Kimura K, Makita H, Sekine M, Obayashi M, Nishi T, Shibahara T, Tanaka T, Ishii S, Yamamoto J, Saito K, Kawai Y, Isono Y, Nakamura Y, Nagahari K, Murakami K, Yasuda T, Iwayanagi T, Wagatsuma M, Shiratori A, Sudo H, Hosoiri T, Kaku Y, Kodaira H, Kondo H, Sugawara M, Takahashi M, Kanda K, Yokoi T, Furuya T, Kikkawa E, Omura Y, Abe K, Kamihara K, Katsuta N, Sato K, Tanikawa M, Yamazaki M, Ninomiya K, Ishibashi T, Yamashita H, Murakawa K, Fujimori K, Tanai H, Kimata M, Watanabe M, Hiraoka S, Chiba Y, Ishida S, Ono Y, Takiguchi S, Watanabe S, Yosida M, Hotuta T, Kusano J, Kanehori K, Takahashi-Fujii A, Hara H, Tanase TO, Nomura Y, Togiya S, Komai F, Hara R, Takeuchi K, Arita M, Imose N, Musashino K, Yuuki H, Oshima A, Sasaki N, Aotsuka S, Yoshikawa Y, Matsunawa H, Ichihara T, Shiohata N, Sano S, Moriya S, Momiyama H, Satoh N, Takami S, Terashima Y, Suzuki O, Nakagawa S, Senoh A, Mizoguchi H, Goto Y, Shimizu F, Wakebe H, Hishigaki H, Watanabe T, Sugiyama A, Takemoto M, Kawakami B, Yamazaki M, Watanabe K, Kumagai A, Itakura S, Fukuzumi Y, Fujimori Y, Komiyama M, Tashiro H, Tanigami A, Fujiwara T, Ono T, Yamada K, Fujii Y, Ozaki K, Hirao M, Ohmori Y, Kawabata A, Hikiji T, Kobatake N, Inagaki H, Ikema Y, Okamoto S, Okitani R, Kawakami T, Noguchi S, Itoh T, Shigeta K, Senba T, Matsumura K, Nakajima Y, Mizuno T, Morinaga M, Sasaki M, Togashi T, Oyama M, Hata H, Watanabe M, Komatsu T, Mizushima-Sugano J, Satoh T, Shirai Y, Takahashi Y, Nakagawa K, Okumura K, Nagase T, Nomura N, Kikuchi H, Masuho Y, Yamashita R, Nakai K, Yada T, Nakamura Y, Ohara O, Isogai T, Sugano S: Complete sequencing and characterization of 21,243 full-length human cDNAs. Nat Genet. 2004 Jan;36(1):40-5. Epub 2003 Dec 21. [Article]
  5. Morisaki T, Gross M, Morisaki H, Pongratz D, Zollner N, Holmes EW: Molecular basis of AMP deaminase deficiency in skeletal muscle. Proc Natl Acad Sci U S A. 1992 Jul 15;89(14):6457-61. [Article]
  6. Morisaki H, Higuchi I, Abe M, Osame M, Morisaki T: First missense mutations (R388W and R425H) of AMPD1 accompanied with myopathy found in a Japanese patient. Hum Mutat. 2000 Dec;16(6):467-72. [Article]
  7. Sjoblom T, Jones S, Wood LD, Parsons DW, Lin J, Barber TD, Mandelker D, Leary RJ, Ptak J, Silliman N, Szabo S, Buckhaults P, Farrell C, Meeh P, Markowitz SD, Willis J, Dawson D, Willson JK, Gazdar AF, Hartigan J, Wu L, Liu C, Parmigiani G, Park BH, Bachman KE, Papadopoulos N, Vogelstein B, Kinzler KW, Velculescu VE: The consensus coding sequences of human breast and colorectal cancers. Science. 2006 Oct 13;314(5797):268-74. Epub 2006 Sep 7. [Article]

Drug Relations

Drug Relations
DrugBank IDNameDrug groupPharmacological action?ActionsDetails
DB00131Adenosine phosphateapproved, investigational, nutraceutical, withdrawnunknownsubstrateDetails