Rod cGMP-specific 3',5'-cyclic phosphodiesterase subunit beta

Details

Name
Rod cGMP-specific 3',5'-cyclic phosphodiesterase subunit beta
Synonyms
  • 3.1.4.35
  • GMP-PDE beta
  • PDEB
Gene Name
PDE6B
Organism
Humans
Amino acid sequence
>lcl|BSEQ0008694|Rod cGMP-specific 3',5'-cyclic phosphodiesterase subunit beta
MSLSEEQARSFLDQNPDFARQYFGKKLSPENVAAACEDGCPPDCDSLRDLCQVEESTALL
ELVQDMQESINMERVVFKVLRRLCTLLQADRCSLFMYRQRNGVAELATRLFSVQPDSVLE
DCLVPPDSEIVFPLDIGVVGHVAQTKKMVNVEDVAECPHFSSFADELTDYKTKNMLATPI
MNGKDVVAVIMAVNKLNGPFFTSEDEDVFLKYLNFATLYLKIYHLSYLHNCETRRGQVLL
WSANKVFEELTDIERQFHKAFYTVRAYLNCERYSVGLLDMTKEKEFFDVWSVLMGESQPY
SGPRTPDGREIVFYKVIDYVLHGKEEIKVIPTPSADHWALASGLPSYVAESGFICNIMNA
SADEMFKFQEGALDDSGWLIKNVLSMPIVNKKEEIVGVATFYNRKDGKPFDEQDEVLMES
LTQFLGWSVMNTDTYDKMNKLENRKDIAQDMVLYHVKCDRDEIQLILPTRARLGKEPADC
DEDELGEILKEELPGPTTFDIYEFHFSDLECTELDLVKCGIQMYYELGVVRKFQIPQEVL
VRFLFSISKGYRRITYHNWRHGFNVAQTMFTLLMTGKLKSYYTDLEAFAMVTAGLCHDID
HRGTNNLYQMKSQNPLAKLHGSSILERHHLEFGKFLLSEETLNIYQNLNRRQHEHVIHLM
DIAIIATDLALYFKKRAMFQKIVDESKNYQDKKSWVEYLSLETTRKEIVMAMMMTACDLS
AITKPWEVQSKVALLVAAEFWEQGDLERTVLDQQPIPMMDRNKAAELPKLQVGFIDFVCT
FVYKEFSRFHEEILPMFDRLQNNRKEWKALADEYEAKVKALEEKEEEERVAAKKVGTEIC
NGGPAPKSSTCCIL
Number of residues
854
Molecular Weight
98334.935
Theoretical pI
Not Available
GO Classification
Functions
3',5'-cyclic-GMP phosphodiesterase activity / metal ion binding
Processes
GMP metabolic process / phototransduction, visible light / regulation of cytosolic calcium ion concentration / regulation of rhodopsin mediated signaling pathway / retina development in camera-type eye / rhodopsin mediated signaling pathway / visual perception / Wnt signaling pathway, calcium modulating pathway
Components
photoreceptor disc membrane / plasma membrane
General Function
This protein participates in processes of transmission and amplification of the visual signal. Necessary for the formation of a functional phosphodiesterase holoenzyme.
Specific Function
3',5'-cyclic-gmp phosphodiesterase activity
Pfam Domain Function
Transmembrane Regions
Not Available
Cellular Location
Membrane
Gene sequence
>lcl|BSEQ0019645|Rod cGMP-specific 3',5'-cyclic phosphodiesterase subunit beta (PDE6B)
ATGAGCCTCAGTGAGGAGCAGGCCCGGAGCTTTCTGGACCAGAACCCCGATTTTGCCCGC
CAGTACTTTGGGAAGAAACTGAGCCCTGAGAATGTGGCCGCGGCCTGCGAGGACGGGTGC
CCGCCGGACTGCGACAGCCTCCGGGACCTCTGCCAGGTGGAGGAGAGCACGGCGCTGCTG
GAGCTGGTGCAGGATATGCAGGAGAGCATCAACATGGAGCGCGTGGTCTTCAAGGTCCTG
CGGCGCCTCTGCACCCTCCTGCAGGCCGACCGCTGCAGCCTCTTCATGTACCGCCAGCGC
AACGGCGTGGCCGAGCTGGCCACCAGGCTTTTCAGCGTGCAGCCGGACAGCGTCCTGGAG
GACTGCCTGGTGCCCCCCGACTCCGAGATCGTCTTCCCACTGGACATCGGGGTCGTGGGC
CACGTGGCTCAGACCAAAAAGATGGTGAACGTCGAGGACGTGGCCGAGTGCCCTCACTTC
AGCTCATTTGCTGACGAGCTCACTGACTACAAGACAAAGAATATGCTGGCCACACCCATC
ATGAATGGCAAAGACGTCGTGGCGGTGATCATGGCAGTGAACAAGCTCAACGGCCCATTC
TTCACCAGCGAAGACGAAGATGTGTTCTTGAAGTACCTGAATTTTGCCACGTTGTACCTG
AAGATCTATCACCTGAGCTACCTCCACAACTGCGAGACGCGCCGCGGCCAGGTGCTGCTG
TGGTCGGCCAACAAGGTGTTTGAGGAGCTGACGGACATCGAGAGGCAGTTCCACAAGGCC
TTCTACACGGTGCGGGCCTACCTCAACTGCGAGCGGTACTCCGTGGGCCTCCTGGACATG
ACCAAGGAGAAGGAATTTTTTGACGTGTGGTCTGTGCTGATGGGAGAGTCCCAGCCGTAC
TCGGGCCCACGCACGCCTGATGGCCGGGAAATTGTCTTCTACAAAGTGATCGACTACATC
CTCCACGGCAAGGAGGAGATCAAGGTCATTCCCACACCCTCAGCCGATCACTGGGCCCTG
GCCAGCGGCCTTCCAAGCTACGTGGCAGAAAGCGGCTTTATTTGTAACATCATGAATGCT
TCCGCTGACGAAATGTTCAAATTTCAGGAAGGGGCCCTGGACGACTCCGGGTGGCTCATC
AAGAATGTGCTGTCCATGCCCATCGTCAACAAGAAGGAGGAGATTGTGGGAGTCGCCACA
TTTTACAACAGGAAAGACGGGAAGCCCTTTGACGAACAGGACGAGGTTCTCATGGAGTCC
CTGACACAGTTCCTGGGCTGGTCAGTGATGAACACCGACACCTACGACAAGATGAACAAG
CTGGAGAACCGCAAGGACATCGCACAGGACATGGTCCTTTACCACGTGAAGTGCGACAGG
GACGAGATCCAGCTCATCCTGCCAACCAGAGCGCGCCTGGGGAAGGAGCCTGCTGACTGC
GATGAGGACGAGCTGGGCGAAATCCTGAAGGAGGAGCTGCCAGGGCCCACCACATTTGAC
ATCTACGAATTCCACTTCTCTGACCTGGAGTGCACCGAACTGGACCTGGTCAAATGTGGC
ATCCAGATGTACTACGAGCTGGGCGTGGTCCGAAAGTTCCAGATCCCCCAGGAGGTCCTG
GTGCGGTTCCTGTTCTCCATCAGCAAAGGGTACCGGAGAATCACCTACCACAACTGGCGC
CACGGCTTCAACGTGGCCCAGACGATGTTCACGCTGCTCATGACCGGCAAACTGAAGAGC
TACTACACGGACCTGGAGGCCTTCGCCATGGTGACAGCCGGCCTGTGCCATGACATCGAC
CACCGCGGCACCAACAACCTGTACCAGATGAAGTCCCAGAACCCCTTGGCTAAGCTCCAC
GGCTCCTCGATTTTGGAGCGGCACCACCTGGAGTTTGGGAAGTTCCTGCTCTCGGAGGAG
ACCCTGAACATCTACCAGAACCTGAACCGGCGGCAGCACGAGCACGTGATCCACCTGATG
GACATCGCCATCATCGCCACGGACCTGGCCCTGTACTTCAAGAAGAGAGCGATGTTTCAG
AAGATCGTGGATGAGTCCAAGAACTACCAGGACAAGAAGAGCTGGGTGGAGTACCTGTCC
CTGGAGACGACCCGGAAGGAGATCGTCATGGCCATGATGATGACAGCCTGCGACCTGTCT
GCCATCACCAAGCCCTGGGAAGTCCAGAGCAAGGTCGCACTTCTCGTGGCTGCTGAGTTC
TGGGAGCAAGGTGACTTGGAAAGGACAGTCTTGGATCAGCAGCCCATTCCTATGATGGAC
CGGAACAAGGCGGCCGAGCTCCCCAAGCTGCAAGTGGGCTTCATCGACTTCGTGTGCACA
TTCGTGTACAAGGAGTTCTCTCGTTTCCACGAAGAGATCCTGCCCATGTTCGACCGACTG
CAGAACAATAGGAAAGAGTGGAAGGCGCTGGCTGATGAGTATGAGGCCAAAGTGAAGGCT
CTGGAGGAGAAGGAGGAGGAGGAGAGGGTGGCAGCCAAGAAAGTAGGCACAGAAATTTGC
AATGGCGGCCCAGCACCCAAGTCTTCAACCTGCTGTATCCTGTGA
Chromosome Location
4
Locus
4p16.3
External Identifiers
ResourceLink
UniProtKB IDP35913
UniProtKB Entry NamePDE6B_HUMAN
HGNC IDHGNC:8786
General References
  1. Weber B, Riess O, Hutchinson G, Collins C, Lin BY, Kowbel D, Andrew S, Schappert K, Hayden MR: Genomic organization and complete sequence of the human gene encoding the beta-subunit of the cGMP phosphodiesterase and its localisation to 4p 16.3. Nucleic Acids Res. 1991 Nov 25;19(22):6263-8. [PubMed:1720239]
  2. Khramtsov NV, Feshchenko EA, Suslova VA, Terpugov BE, Rakitina TV, Atabekova NV, Shmukler BE, Lipkin VM: [Structural studies of cDNA and the gene for the beta-subunit of cGMP phosphodiesterase from human retina]. Bioorg Khim. 1992 Dec;18(12):1551-4. [PubMed:1338685]
  3. Collins C, Hutchinson G, Kowbel D, Riess O, Weber B, Hayden MR: The human beta-subunit of rod photoreceptor cGMP phosphodiesterase: complete retinal cDNA sequence and evidence for expression in brain. Genomics. 1992 Jul;13(3):698-704. [PubMed:1322354]
  4. Khramtsov NV, Feshchenko EA, Suslova VA, Shmukler BE, Terpugov BE, Rakitina TV, Atabekova NV, Lipkin VM: The human rod photoreceptor cGMP phosphodiesterase beta-subunit. Structural studies of its cDNA and gene. FEBS Lett. 1993 Aug 2;327(3):275-8. [PubMed:8394243]
  5. 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. [PubMed:14702039]
  6. Hillier LW, Graves TA, Fulton RS, Fulton LA, Pepin KH, Minx P, Wagner-McPherson C, Layman D, Wylie K, Sekhon M, Becker MC, Fewell GA, Delehaunty KD, Miner TL, Nash WE, Kremitzki C, Oddy L, Du H, Sun H, Bradshaw-Cordum H, Ali J, Carter J, Cordes M, Harris A, Isak A, van Brunt A, Nguyen C, Du F, Courtney L, Kalicki J, Ozersky P, Abbott S, Armstrong J, Belter EA, Caruso L, Cedroni M, Cotton M, Davidson T, Desai A, Elliott G, Erb T, Fronick C, Gaige T, Haakenson W, Haglund K, Holmes A, Harkins R, Kim K, Kruchowski SS, Strong CM, Grewal N, Goyea E, Hou S, Levy A, Martinka S, Mead K, McLellan MD, Meyer R, Randall-Maher J, Tomlinson C, Dauphin-Kohlberg S, Kozlowicz-Reilly A, Shah N, Swearengen-Shahid S, Snider J, Strong JT, Thompson J, Yoakum M, Leonard S, Pearman C, Trani L, Radionenko M, Waligorski JE, Wang C, Rock SM, Tin-Wollam AM, Maupin R, Latreille P, Wendl MC, Yang SP, Pohl C, Wallis JW, Spieth J, Bieri TA, Berkowicz N, Nelson JO, Osborne J, Ding L, Meyer R, Sabo A, Shotland Y, Sinha P, Wohldmann PE, Cook LL, Hickenbotham MT, Eldred J, Williams D, Jones TA, She X, Ciccarelli FD, Izaurralde E, Taylor J, Schmutz J, Myers RM, Cox DR, Huang X, McPherson JD, Mardis ER, Clifton SW, Warren WC, Chinwalla AT, Eddy SR, Marra MA, Ovcharenko I, Furey TS, Miller W, Eichler EE, Bork P, Suyama M, Torrents D, Waterston RH, Wilson RK: Generation and annotation of the DNA sequences of human chromosomes 2 and 4. Nature. 2005 Apr 7;434(7034):724-31. [PubMed:15815621]
  7. Gerhard DS, Wagner L, Feingold EA, Shenmen CM, Grouse LH, Schuler G, Klein SL, Old S, Rasooly R, Good P, Guyer M, Peck AM, Derge JG, Lipman D, Collins FS, Jang W, Sherry S, Feolo M, Misquitta L, Lee E, Rotmistrovsky K, Greenhut SF, Schaefer CF, Buetow K, Bonner TI, Haussler D, Kent J, Kiekhaus M, Furey T, Brent M, Prange C, Schreiber K, Shapiro N, Bhat NK, Hopkins RF, Hsie F, Driscoll T, Soares MB, Casavant TL, Scheetz TE, Brown-stein MJ, Usdin TB, Toshiyuki S, Carninci P, Piao Y, Dudekula DB, Ko MS, Kawakami K, Suzuki Y, Sugano S, Gruber CE, Smith MR, Simmons B, Moore T, Waterman R, Johnson SL, Ruan Y, Wei CL, Mathavan S, Gunaratne PH, Wu J, Garcia AM, Hulyk SW, Fuh E, Yuan Y, Sneed A, Kowis C, Hodgson A, Muzny DM, McPherson J, Gibbs RA, Fahey J, Helton E, Ketteman M, Madan A, Rodrigues S, Sanchez A, Whiting M, Madari A, Young AC, Wetherby KD, Granite SJ, Kwong PN, Brinkley CP, Pearson RL, Bouffard GG, Blakesly RW, Green ED, Dickson MC, Rodriguez AC, Grimwood J, Schmutz J, Myers RM, Butterfield YS, Griffith M, Griffith OL, Krzywinski MI, Liao N, Morin R, Palmquist D, Petrescu AS, Skalska U, Smailus DE, Stott JM, Schnerch A, Schein JE, Jones SJ, Holt RA, Baross A, Marra MA, Clifton S, Makowski KA, Bosak S, Malek J: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). Genome Res. 2004 Oct;14(10B):2121-7. [PubMed:15489334]
  8. Gal A, Orth U, Baehr W, Schwinger E, Rosenberg T: Heterozygous missense mutation in the rod cGMP phosphodiesterase beta-subunit gene in autosomal dominant stationary night blindness. Nat Genet. 1994 May;7(1):64-8. [PubMed:8075643]
  9. Gal A, Orth U, Baehr W, Schwinger E, Rosenberg T: Heterozygous missense mutation in the rod cGMP phosphodiesterase beta-subunit gene in autosomal dominant stationary night blindness. Nat Genet. 1994 Aug;7(4):551. [PubMed:7951329]
  10. Suslova VA, Suslov ON, Kim EE, Lipkin VM: [Organization of the gene for the beta-subunit of human photoreceptor cyclic GMP phosphodiesterase]. Bioorg Khim. 1996 Apr;22(4):256-63. [PubMed:8768262]
  11. McLaughlin ME, Sandberg MA, Berson EL, Dryja TP: Recessive mutations in the gene encoding the beta-subunit of rod phosphodiesterase in patients with retinitis pigmentosa. Nat Genet. 1993 Jun;4(2):130-4. [PubMed:8394174]
  12. Danciger M, Blaney J, Gao YQ, Zhao DY, Heckenlively JR, Jacobson SG, Farber DB: Mutations in the PDE6B gene in autosomal recessive retinitis pigmentosa. Genomics. 1995 Nov 1;30(1):1-7. [PubMed:8595886]
  13. Gao YQ, Danciger M, Zhao DY, Blaney J, Piriev NI, Shih J, Jacobson SG, Heckenlively JH, Farber DB: Screening of the PDE6B gene in patients with autosomal dominant retinitis pigmentosa. Exp Eye Res. 1996 Feb;62(2):149-54. [PubMed:8698075]
  14. Valverde D, Solans T, Grinberg D, Balcells S, Vilageliu L, Bayes M, Chivelet P, Besmond C, Goossens M, Gonzalez-Duarte R, Baiget M: A novel mutation in exon 17 of the beta-subunit of rod phosphodiesterase in two RP sisters of a consanguineous family. Hum Genet. 1996 Jan;97(1):35-8. [PubMed:8557257]
  15. Valverde D, Baiget M, Seminago R, del Rio E, Garcia-Sandoval B, del Rio T, Bayes M, Balcells S, Martinez A, Grinberg D, Ayuso C: Identification of a novel R552O mutation in exon 13 of the beta-subunit of rod phosphodiesterase gene in a Spanish family with autosomal recessive retinitis pigmentosa. Hum Mutat. 1996;8(4):393-4. [PubMed:8956055]
  16. Saga M, Mashima Y, Akeo K, Kudoh J, Oguchi Y, Shimizu N: A novel homozygous Ile535Asn mutation in the rod cGMP phosphodiesterase beta-subunit gene in two brothers of a Japanese family with autosomal recessive retinitis pigmentosa. Curr Eye Res. 1998 Mar;17(3):332-5. [PubMed:9543643]
  17. Neveling K, Collin RW, Gilissen C, van Huet RA, Visser L, Kwint MP, Gijsen SJ, Zonneveld MN, Wieskamp N, de Ligt J, Siemiatkowska AM, Hoefsloot LH, Buckley MF, Kellner U, Branham KE, den Hollander AI, Hoischen A, Hoyng C, Klevering BJ, van den Born LI, Veltman JA, Cremers FP, Scheffer H: Next-generation genetic testing for retinitis pigmentosa. Hum Mutat. 2012 Jun;33(6):963-72. doi: 10.1002/humu.22045. Epub 2012 Mar 19. [PubMed:22334370]

Drug Relations

Drug Relations
DrugBank IDNameDrug groupPharmacological action?ActionsDetails
DB00201CaffeineapprovedunknowninhibitorDetails
DB09283TrapidilexperimentalyesinhibitorDetails