Sequence of ADCY5_HUMAN
EC Number:4.6.1.1
EC Number
Recommended Name
Accession Code
Organism
No of amino acids
Molecular Weight [Da]
Source
Reaction
ATP = 3',5'-cyclic AMP + diphosphate
Other sequences found for EC No. 4.6.1.1
General information:
Sequence
0 MSGSKSVSPP GYAAQKTAAP APRGGPEHRS AWGEADSRAN GYPHAPGGSA RGSTKKPGGA
60 VTPQQQQRLA SRWRSDDDDD PPLSGDDPLA GGFGFSFRSK SAWQERGGDD CGRGSRRQRR
120 GAASGGSTRA PPAGGGGGSA AAAASAGGTE VRPRSVEVGL EERRGKGRAA DELEAGAVEG
180 GEGSGDGGSS ADSGSGAGPG AVLSLGACCL ALLQIFRSKK FPSDKLERLY QRYFFRLNQS
240 SLTMLMAVLV LVCLVMLAFH AARPPLQLPY LAVLAAAVGV ILIMAVLCNR AAFHQDHMGL
300 ACYALIAVVL AVQVVGLLLP QPRSASEGIW WTVFFIYTIY TLLPVRMRAA VLSGVLLSAL
360 HLAIALRTNA QDQFLLKQLV SNVLIFSCTN IVGVCTHYPA EVSQRQAFQE TRECIQARLH
420 SQRENQQQER LLLSVLPRHV AMEMKADINA KQEDMMFHKI YIQKHDNVSI LFADIEGFTS
480 LASQCTAQEL VMTLNELFAR FDKLAAENHC LRIKILGDCY YCVSGLPEAR ADHAHCCVEM
540 GMDMIEAISL VREVTGVNVN MRVGIHSGRV HCGVLGLRKW QFDVWSNDVT LANHMEAGGK
600 AGRIHITKAT LNYLNGDYEV EPGCGGERNA YLKEHSIETF LILRCTQKRK EEKAMIAKMN
660 RQRTNSIGHN PPHWGAERPF YNHLGGNQVS KEMKRMGFED PKDKNAQESA NPEDEVDEFL
720 GRAIDARSID RLRSEHVRKF LLTFREPDLE KKYSKQVDDR FGAYVACASL VFLFICFVQI
780 TIVPHSIFML SFYLTCSLLL TLVVFVSVIY SCVKLFPSPL QTLSRKIVRS KMNSTLVGVF
840 TITLVFLAAF VNMFTCNSRD LLGCLAQEHN ISASQVNACH VAESAVNYSL GDEQGFCGSP
900 WPNCNFPEYF TYSVLLSLLA CSVFLQISCI GKLVLMLAIE LIYVLIVEVP GVTLFDNADL
960 LVTANAIDFF NNGTSQCPEH ATKVALKVVT PIIISVFVLA LYLHAQQVES TARLDFLWKL
1020 QATEEKEEME ELQAYNRRLL HNILPKDVAA HFLARERRND ELYYQSCECV AVMFASIANF
1080 SEFYVELEAN NEGVECLRLL NEIIADFDEI ISEDRFRQLE KIKTIGSTYM AASGLNDSTY
1140 DKVGKTHIKA LADFAMKLMD QMKYINEHSF NNFQMKIGLN IGPVVAGVIG ARKPQYDIWG
1200 NTVNVASRMD STGVPDRIQV TTDMYQVLAA NTYQLECRGV VKVKGKGEMM TYFLNGGPPL
1260 S
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Sequence Reference
Authors
Title
Journal
Volume
Pages
Year
PubMed ID
2411
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 T.-O.,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.
36
40-45
2004
2412
Muzny D.M.,Scherer S.E.,Kaul R.,Wang J.,Yu J.,Sudbrak R.,Buhay C.J.,Chen R.,Cree A.,Ding Y.,Dugan-Rocha S.,Gill R.,Gunaratne P.,Harris R.A.,Hawes A.C.,Hernandez J.,Hodgson A.V.,Hume J.,Jackson A.,Khan Z.M.,Kovar-Smith C.,Lewis L.R.,Lozado R.J.,Metzker M.L.,Milosavljevic A.,Miner G.R.,Morgan M.B.,Nazareth L.V.,Scott G.,Sodergren E.,Song X.-Z.,Steffen D.,Wei S.,Wheeler D.A.,Wright M.W.,Worley K.C.,Yuan Y.,Zhang Z.,Adams C.Q.,Ansari-Lari M.A.,Ayele M.,Brown M.J.,Chen G.,Chen Z.,Clendenning J.,Clerc-Blankenburg K.P.,Chen R.,Chen Z.,Davis C.,Delgado O.,Dinh H.H.,Dong W.,Draper H.,Ernst S.,Fu G.,Gonzalez-Garay M.L.,Garcia D.K.,Gillett W.,Gu J.,Hao B.,Haugen E.,Havlak P.,He X.,Hennig S.,Hu S.,Huang W.,Jackson L.R.,Jacob L.S.,Kelly S.H.,Kube M.,Levy R.,Li Z.,Liu B.,Liu J.,Liu W.,Lu J.,Maheshwari M.,Nguyen B.-V.,Okwuonu G.O.,Palmeiri A.,Pasternak S.,Perez L.M.,Phelps K.A.,Plopper F.J.,Qiang B.,Raymond C.,Rodriguez R.,Saenphimmachak C.,Santibanez J.,Shen H.,Shen Y.,Subramanian S.,Tabor P.E.,Verduzco D.,Waldron L.,Wang J.,Wang J.,Wang Q.,Williams G.A.,Wong G.K.-S.,Yao Z.,Zhang J.,Zhang X.,Zhao G.,Zhou J.,Zhou Y.,Nelson D.,Lehrach H.,Reinhardt R.,Naylor S.L.,Yang H.,Olson M.,Weinstock G.,Gibbs R.A.
The DNA sequence, annotation and analysis of human chromosome 3.
Nature
440
1194-1198
2006
2413
Ludwig M.G.,Seuwen K.
Characterization of the human adenylyl cyclase gene family: cDNA, gene structure, and tissue distribution of the nine isoforms.
J. Recept. Signal Transduct.
22
79-110
2002
2414
Raimundo S.,Giray J.,Volff J.-N.,Schwab M.,Altenbuchner J.,Ratge D.,Wisser H.
Cloning and sequence of partial cDNAs encoding the human type V and VI adenylyl cyclases and subsequent RNA-quantification in various tissues.
Clin. Chim. Acta
285
155-161
1999
2415
Ding Q.,Gros R.,Gray I.D.,Taussig R.,Ferguson S.S.,Feldman R.D.
Raf kinase activation of adenylyl cyclases: isoform-selective regulation.
Mol. Pharmacol.
66
921-928
2004
2416
Hodson D.J.,Mitchell R.K.,Marselli L.,Pullen T.J.,Gimeno Brias S.,Semplici F.,Everett K.L.,Cooper D.M.,Bugliani M.,Marchetti P.,Lavallard V.,Bosco D.,Piemonti L.,Johnson P.R.,Hughes S.J.,Li D.,Li W.H.,Shapiro A.M.,Rutter G.A.
ADCY5 couples glucose to insulin secretion in human islets.
Diabetes
63
3009-3021
2014
2417
Brand C.S.,Sadana R.,Malik S.,Smrcka A.V.,Dessauer C.W.
Adenylyl cyclase 5 regulation by Gbetagamma involves isoform specific use of multiple interaction sites.
Mol. Pharmacol.
88
758-767
2015
2418
Chen Y.Z.,Matsushita M.M.,Robertson P.,Rieder M.,Girirajan S.,Antonacci F.,Lipe H.,Eichler E.E.,Nickerson D.A.,Bird T.D.,Raskind W.H.
Autosomal dominant familial dyskinesia and facial myokymia: single exome sequencing identifies a mutation in adenylyl cyclase 5.
Arch. Neurol.
69
630-635
2012
2419
Chen Y.Z.,Friedman J.R.,Chen D.H.,Chan G.C.,Bloss C.S.,Hisama F.M.,Topol S.E.,Carson A.R.,Pham P.H.,Bonkowski E.S.,Scott E.R.,Lee J.K.,Zhang G.,Oliveira G.,Xu J.,Scott-Van Zeeland A.A.,Chen Q.,Levy S.,Topol E.J.,Storm D.,Swanson P.D.,Bird T.D.,Schork N.J.,Raskind W.H.,Torkamani A.
Gain-of-function ADCY5 mutations in familial dyskinesia with facial myokymia.
Ann. Neurol.
75
542-549
2014
2420
Mencacci N.E.,Erro R.,Wiethoff S.,Hersheson J.,Ryten M.,Balint B.,Ganos C.,Stamelou M.,Quinn N.,Houlden H.,Wood N.W.,Bhatia K.P.
ADCY5 mutations are another cause of benign hereditary chorea.
Neurology
85
80-88
2015
2421
Barrett M.J.,Williams E.S.,Chambers C.,Dhamija R.
Autosomal recessive inheritance of ADCY5-related generalized dystonia and myoclonus.
Neurol. Genet.
3
193-193
2017
2422
Bohlega S.A.,Abou-Al-Shaar H.,Al-Dakheel A.,Alajlan H.,Bohlega B.S.,Meyer B.F.,Monies D.,Cupler E.J.,Al-Saif A.M.
Autosomal recessive ADCY5-Related dystonia and myoclonus: Expanding the genetic spectrum of ADCY5-Related movement disorders.
Parkinsonism Relat. Disord.
64
145-149
2019
2423
Okamoto N.,Miya F.,Kitai Y.,Tsunoda T.,Kato M.,Saitoh S.,Kanemura Y.,Kosaki K.
Homozygous ADCY5 mutation causes early-onset movement disorder with severe intellectual disability.
Neurol. Sci.
42
2975-2978
2021
2424
Kaiyrzhanov R.,Zaki M.S.,Maroofian R.,Dominik N.,Rad A.,Vona B.,Houlden H.
A Novel Homozygous ADCY5 Variant is Associated with a Neurodevelopmental Disorder and Movement Abnormalities.
Mov. Disord. Clin. Pract.
8
1140-1143
2021
