Sequence in raw or FASTA format:
Homo sapiens adenylate cyclase 6 (ADCY6), transcript variant 2, mRNA.
| RefSeq Version | NM_020983.2, 21071019 |
| Length | 5877 bp |
| Structure | linear |
| Update Date | 11-MAR-2011 |
| Organism | Homo sapiens (human) |
| Definition | Homo sapiens adenylate cyclase 6 (ADCY6), transcript variant 2, mRNA. |
| Product | adenylate cyclase type 6 isoform b |
| Comment | Summary: This gene encodes adenylate cyclase 6, which is a membrane-associated enzyme and catalyzes the formation of the secondary messenger cyclic adenosine monophosphate (cAMP). The expression of this gene is found in normal thyroid and brain tissues, as well as some tumors; and its expression is significantly higher in one hyperfunctioning thyroid tumor than in normal thyroid tissue. Alternative splicing generates 2 transcript variants. [provided by RefSeq]. Transcript Variant: This variant (2) has a different and shorter 5' UTR and lacks an in-frame fragment of 159 bp in the coding region, as compared to variant 1. Isoform b encoded by this variant has the same N- and C- termini as isoform a encoded by variant 1, but lacks internal 53 aa. |
| RefSeq | NP_066193.1 |
| CDS | 137..3484 | Exon (1) | 1..132 | Exon (2) | 1..132 | Exon (3) | 133..1000 | Exon (4) | 1001..1150 | Exon (5) | 1151..1272 | Exon (6) | 1273..1384 | Exon (7) | 1385..1512 | Exon (8) | 1513..1671 | Exon (9) | 1672..1813 | Exon (10) | 1814..1942 | Exon (11) | 1943..1968 | Exon (12) | 1969..2116 | Exon (13) | 2117..2214 | Exon (14) | 2215..2302 | Exon (15) | 2303..2419 | Exon (16) | 2420..2598 | Exon (17) | 2599..2634 | Exon (18) | 2635..2764 | Exon (19) | 2765..3028 | Exon (20) | 3029..3233 | Exon (21) | 3234..3358 | Exon (22) | 3359..5877 |
| Translation | MSWFSGLLVPKVDERKTAWGERNGQKRSRRRGTRAGGFCTPRYMSCLRDAEPPSPTPAGP
PRCPWQDDAFIRRGGPGKGKELGLRAVALGFEDTEVTTTAGGTAEVAPDAVPRSGRSCWR
RLVQVFQSKQFRSAKLERLYQRYFFQMNQSSLTLLMAVLVLLTAVLLAFHAAPARPQPAY
VALLACAAALFVGLMVVCNRHSFRQDSMWVVSYVVLGILAAVQVGGALAADPRSPSAGLW
CPVFFVYIAYTLLPIRMRAAVLSGLGLSTLHLILAWQLNRGDAFLWKQLGANVLLFLCTN
VIGICTHYPAEVSQRQAFQETRGYIQARLHLQHENRQQERLLLSVLPQHVAMEMKEDINT
KKEDMMFHKIYIQKHDNVSILFADIEGFTSLASQCTAQELVMTLNELFARFDKLAAENHC
LRIKILGDCYYCVSGLPEARADHAHCCVEMGVDMIEAISLVREVTGVNVNMRVGIHSGRV
HCGVLGLRKWQFDVWSNDVTLANHMEAGGRAGRIHITRATLQYLNGDYEVEPGRGGERNA
YLKEQHIETFLILGASQKRKEEKAMLAKLQRTRANSMEGLMPRWVPDRAFSRTKDSKAFR
QMGIDDSSKDNRGTQDALNPEDEVDEFLSRAIDARSIDQLRKDHVRRFLLTFQREDLEKK
YSRKVDPRFGAYVACALLVFCFICFIQLLIFPHSTLMLGIYASIFLLLLITVLICAVYSC
GSLFPKALQRLSRSIVRSRAHSTAVGIFSVLLVFTSAIANMYFIGNMLLSLLASSVFLHI
SSIGKLAMIFVLGLIYLVLLLLGPPATIFDNYDLLLGVHGLASSNETFDGLDCPAAGRVA
LKYMTPVILLVFALALYLHAQQVESTARLDFLWKLQATGEKEEMEELQAYNRRLLHNILP
KDVAAHFLARERRNDELYYQSCECVAVMFASIANFSEFYVELEANNEGVECLRLLNEIIA
DFDEIISEERFRQLEKIKTIGSTYMAASGLNASTYDQVGRSHITALADYAMRLMEQMKHI
NEHSFNNFQMKIGLNMGPVVAGVIGARKPQYDIWGNTVNVSSRMDSTGVPDRIQVTTDLY
QVLAAKGYQLECRGVVKVKGKGEMTTYFLNGGPSS
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| Position | Chain | Variation | Link |
| complement(241) | - | t, g | dbSNP:2453486 |
| complement(249) | - | g, a | dbSNP:78598423 |
| 359 | + | a, g | dbSNP:3730307 |
| complement(421) | - | t, c | dbSNP:114125023 |
| 482 | + | a, c | dbSNP:3730308 |
| complement(494) | - | g, a | dbSNP:55770045 |
| complement(546) | - | t, c | dbSNP:114021318 |
| complement(549) | - | t, c | dbSNP:115315671 |
| 772 | + | c, t | dbSNP:3730064 |
| complement(1170) | - | c, a | dbSNP:74468932 |
| complement(1357) | - | g, a | dbSNP:55872249 |
| complement(1397) | - | g, a | dbSNP:71464932 |
| 1546 | + | c, t | dbSNP:3730067 |
| 1573 | + | c, t | dbSNP:3730068 |
| complement(1711) | - | g, a | dbSNP:116207511 |
| complement(1801) | - | t, g | dbSNP:116290355 |
| complement(1847) | - | g, a | dbSNP:56168017 |
| complement(1881) | - | g, a | dbSNP:114120444 |
| complement(2032) | - | g, a | dbSNP:116169976 |
| complement(2068) | - | g, a | dbSNP:116626928 |
| complement(2123) | - | g, a | dbSNP:116786357 |
| complement(2144) | - | t, c | dbSNP:55726827 |
| 2156 | + | g, t | dbSNP:3730071 |
| complement(2165) | - | t, g | dbSNP:77913913 |
| complement(2383) | - | g, a | dbSNP:115957272 |
| complement(2485) | - | g, a | dbSNP:115965469 |
| complement(2486) | - | t, c | dbSNP:116834962 |
| complement(2588) | - | t, c | dbSNP:55797309 |
| complement(2652) | - | , a | dbSNP:34090269 |
| complement(2738) | - | g, a | dbSNP:115351639 |
| complement(2916) | - | c, a | dbSNP:80175840 |
| complement(3268) | - | g, a | dbSNP:73296123 |
| 3605 | + | c, g | dbSNP:3729973 |
| complement(4337) | - | g, a | dbSNP:56009129 |
| complement(4341) | - | t, c | dbSNP:74512157 |
| complement(4462) | - | t, g | dbSNP:7961282 |
| complement(4579..4580) | - | , t | dbSNP:34681523 |
| complement(4615..5716) | - | , largedeletion | dbSNP:71808125 |
| complement(4808) | - | c, a | dbSNP:56258492 |
| complement(4892) | - | t, c | dbSNP:55708807 |
| complement(4921) | - | g, a | dbSNP:60640368 |
| 4965 | + | c, t | dbSNP:1044574 |
| complement(5341) | - | t, c | dbSNP:117750400 |
| complement(5343) | - | g, a | dbSNP:117300578 |
| complement(5509) | - | g, a | dbSNP:79426058 |
| complement(5763) | - | g, c | dbSNP:71464931 |
| Gene Symbol | ADCY6 |
| Gene Synonym | AC6; DKFZp779F075; KIAA0422 |
| Chromosome | 12 |
| Locus Map | 12q12-q13 |
| All Transcripts | NM_020983 , NM_015270 |
| Title | PPARgamma-dependent regulation of adenylate cyclase 6 amplifies the stimulatory effect of cAMP on renin gene expression . |
| Author | Desch,M., Schubert,T., Schreiber,A., Mayer,S., Friedrich,B., Artunc,F. and Todorov,V.T. |
| Journal | Mol. Endocrinol. 24 (11), 2139-2151 (2010) |
| Title | Increased blood pressure and hyperdynamic cardiovascular responses in carriers of a common hyperfunctional variant of adenylyl cyclase 6 . |
| Author | Hodges,G.J., Gros,R., Hegele,R.A., Van Uum,S., Shoemaker,J.K. and Feldman,R.D. |
| Journal | J. Pharmacol. Exp. Ther. 335 (2), 451-457 (2010) |
| Title | Real-time monitoring of cAMP levels in living endothelial cells: thrombin transiently inhibits adenylyl cyclase 6 . |
| Author | Werthmann,R.C., von Hayn,K., Nikolaev,V.O., Lohse,M.J. and Bunemann,M. |
| Journal | J. Physiol. (Lond.) 587 (PT 16), 4091-4104 (2009) |
| Title | The C1 and C2 domains target human type 6 adenylyl cyclase to lipid rafts and caveolae . |
| Author | Thangavel,M., Liu,X., Sun,S.Q., Kaminsky,J. and Ostrom,R.S. |
| Journal | Cell. Signal. 21 (2), 301-308 (2009) |
| Title | Selective coupling of type 6 adenylyl cyclase with type 2 IP3 receptors mediates direct sensitization of IP3 receptors by cAMP . |
| Author | Tovey,S.C., Dedos,S.G., Taylor,E.J., Church,J.E. and Taylor,C.W. |
| Journal | J. Cell Biol. 183 (2), 297-311 (2008) |
| Title | Purification and characterization of a soluble form of mammalian adenylyl cyclase . |
| Author | Dessauer,C.W. and Gilman,A.G. |
| Journal | J. Biol. Chem. 271 (28), 16967-16974 (1996) |
| Title | Mammalian adenylyl cyclase family members are randomly located on different chromosomes . |
| Author | Gaudin,C., Homcy,C.J. and Ishikawa,Y. |
| Journal | Hum. Genet. 94 (5), 527-529 (1994) |
| Title | Mechanism of GTP hydrolysis by G-protein alpha subunits . |
| Author | Kleuss,C., Raw,A.S., Lee,E., Sprang,S.R. and Gilman,A.G. |
| Journal | Proc. Natl. Acad. Sci. U.S.A. 91 (21), 9828-9831 (1994) |
| Title | Chromosomal mapping of human adenylyl cyclase genes type III, type . |
| Author | Haber,N., Stengel,D., Defer,N., Roeckel,N., Mattei,M.G. and Hanoune,J. |
| Journal | Hum. Genet. 94 (1), 69-73 (1994) |
| Title | cAMP-dependent protein kinase: framework for a diverse family of regulatory enzymes . |
| Author | Taylor,S.S., Buechler,J.A. and Yonemoto,W. |
| Journal | Annu. Rev. Biochem. 59, 971-1005 (1990) |
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