Rod cGMP-specific 3',5'-cyclic phosphodiesterase subunit alpha
Details
- Name
- Rod cGMP-specific 3',5'-cyclic phosphodiesterase subunit alpha
- Synonyms
- 3.1.4.35
- GMP-PDE alpha
- PDE V-B1
- PDEA
- Gene Name
- PDE6A
- Organism
- Humans
- Amino acid sequence
>lcl|BSEQ0013357|Rod cGMP-specific 3',5'-cyclic phosphodiesterase subunit alpha MGEVTAEEVEKFLDSNIGFAKQYYNLHYRAKLISDLLGAKEAAVDFSNYHSPSSMEESEI IFDLLRDFQENLQTEKCIFNVMKKLCFLLQADRMSLFMYRTRNGIAELATRLFNVHKDAV LEDCLVMPDQEIVFPLDMGIVGHVAHSKKIANVPNTEEDEHFCDFVDILTEYKTKNILAS PIMNGKDVVAIIMAVNKVDGSHFTKRDEEILLKYLNFANLIMKVYHLSYLHNCETRRGQI LLWSGSKVFEELTDIERQFHKALYTVRAFLNCDRYSVGLLDMTKQKEFFDVWPVLMGEVP PYSGPRTPDGREINFYKVIDYILHGKEDIKVIPNPPPDHWALVSGLPAYVAQNGLICNIM NAPAEDFFAFQKEPLDESGWMIKNVLSMPIVNKKEEIVGVATFYNRKDGKPFDEMDETLM ESLTQFLGWSVLNPDTYESMNKLENRKDIFQDIVKYHVKCDNEEIQKILKTREVYGKEPW ECEEEELAEILQAELPDADKYEINKFHFSDLPLTELELVKCGIQMYYELKVVDKFHIPQE ALVRFMYSLSKGYRKITYHNWRHGFNVGQTMFSLLVTGKLKRYFTDLEALAMVTAAFCHD IDHRGTNNLYQMKSQNPLAKLHGSSILERHHLEFGKTLLRDESLNIFQNLNRRQHEHAIH MMDIAIIATDLALYFKKRTMFQKIVDQSKTYESEQEWTQYMMLEQTRKEIVMAMMMTACD LSAITKPWEVQSQVALLVAAEFWEQGDLERTVLQQNPIPMMDRNKADELPKLQVGFIDFV CTFVYKEFSRFHEEITPMLDGITNNRKEWKALADEYDAKMKVQEEKKQKQQSAKSAAAGN QPGGNPSPGGATTSKSCCIQ
- Number of residues
- 860
- Molecular Weight
- 99546.595
- Theoretical pI
- Not Available
- GO Classification
- Functions3',5'-cyclic-GMP phosphodiesterase activity / metal ion bindingProcessesGMP metabolic process / regulation of cytosolic calcium ion concentration / regulation of rhodopsin mediated signaling pathway / rhodopsin mediated signaling pathway / visual perception / Wnt signaling pathway, calcium modulating pathwayComponentsphotoreceptor disc membrane / plasma membrane
- General Function
- This protein participates in processes of transmission and amplification of the visual signal.
- Specific Function
- 3',5'-cyclic-gmp phosphodiesterase activity
- Pfam Domain Function
- Transmembrane Regions
- Not Available
- Cellular Location
- Cell membrane
- Gene sequence
>lcl|BSEQ0013358|Rod cGMP-specific 3',5'-cyclic phosphodiesterase subunit alpha (PDE6A) ATGGGCGAGGTGACAGCAGAGGAGGTGGAGAAGTTCCTGGACTCGAATATTGGCTTTGCC AAACAGTACTACAACCTCCACTACCGGGCCAAGCTCATCTCCGACCTCCTTGGGGCCAAG GAGGCTGCCGTGGACTTCAGCAACTACCACTCCCCGAGCAGCATGGAGGAGAGCGAAATC ATCTTTGATCTCCTGCGGGACTTTCAGGAGAATTTACAGACAGAGAAATGCATCTTCAAT GTCATGAAGAAGCTGTGCTTCCTCCTGCAGGCAGACCGCATGAGCCTGTTCATGTACCGG ACCCGCAATGGCATCGCAGAGCTGGCCACCAGGCTTTTCAATGTCCACAAGGATGCTGTC CTCGAGGACTGCCTGGTGATGCCCGACCAAGAGATCGTCTTCCCTTTGGACATGGGCATC GTGGGCCATGTCGCACACTCTAAGAAGATTGCTAACGTCCCCAACACAGAGGAGGATGAG CATTTCTGTGACTTTGTGGACATCCTCACAGAGTACAAGACCAAGAACATCTTGGCTTCC CCCATAATGAATGGGAAGGATGTGGTGGCCATAATCATGGCTGTGAATAAAGTGGATGGA TCCCACTTCACCAAGAGAGATGAAGAGATTCTTCTCAAGTACCTCAATTTTGCAAATCTA ATCATGAAGGTGTACCACCTGAGTTACCTGCACAACTGTGAAACTCGACGTGGCCAGATA CTGCTGTGGTCTGGGAGCAAAGTCTTTGAAGAACTTACGGACATCGAACGACAGTTCCAC AAAGCCCTGTACACAGTCCGTGCTTTCCTCAACTGTGACAGATACTCTGTGGGTCTCTTA GACATGACCAAGCAGAAGGAATTTTTTGATGTGTGGCCGGTTCTGATGGGTGAAGTTCCA CCTTACTCTGGTCCCAGGACTCCGGATGGAAGAGAAATTAACTTTTACAAGGTCATTGAC TACATCCTGCATGGCAAAGAGGACATCAAAGTCATCCCGAATCCACCTCCTGACCATTGG GCTTTAGTAAGCGGTCTCCCAGCTTATGTTGCCCAGAATGGCCTGATTTGCAACATCATG AATGCGCCTGCGGAGGACTTTTTTGCATTTCAGAAAGAACCTCTGGATGAGTCTGGATGG ATGATTAAAAATGTGCTTTCAATGCCGATTGTGAACAAGAAGGAAGAAATTGTTGGAGTG GCCACATTTTACAATCGTAAAGATGGGAAGCCCTTTGATGAAATGGATGAGACGCTCATG GAGTCTTTGACTCAATTTCTGGGCTGGTCTGTCTTAAATCCTGACACCTATGAGTCAATG AATAAACTTGAAAATAGGAAGGATATTTTCCAGGACATAGTAAAATATCATGTGAAGTGT GACAATGAAGAAATTCAGAAAATCTTGAAAACCAGAGAGGTGTATGGGAAGGAGCCATGG GAGTGTGAGGAAGAGGAGCTGGCTGAGATCCTGCAAGCGGAGCTGCCAGATGCAGATAAA TACGAAATTAATAAATTTCACTTCAGTGACTTACCCCTAACAGAACTGGAGCTGGTAAAA TGTGGAATACAGATGTATTATGAGCTCAAAGTGGTGGATAAATTTCACATTCCACAAGAG GCCCTGGTGCGGTTCATGTACTCCCTGAGTAAGGGCTACCGCAAGATCACCTACCACAAC TGGCGGCACGGCTTCAACGTGGGGCAGACCATGTTCTCCCTGCTGGTGACGGGAAAGCTG AAGCGCTACTTCACGGACCTAGAGGCCTTGGCCATGGTCACTGCTGCTTTCTGCCATGAC ATTGACCACAGAGGCACCAATAACCTCTACCAGATGAAATCCCAGAACCCACTGGCCAAG CTCCATGGGTCCTCTATCTTGGAAAGACACCACTTGGAGTTTGGCAAAACACTGCTCAGA GACGAGAGCCTGAATATCTTTCAAAACCTCAATCGTCGACAGCATGAGCATGCCATCCAC ATGATGGACATTGCAATCATTGCCACAGACCTCGCCCTGTATTTCAAGAAGAGGACGATG TTCCAAAAGATCGTGGATCAGTCTAAGACATATGAGAGTGAACAGGAGTGGACACAGTAC ATGATGCTGGAGCAGACACGGAAGGAAATCGTTATGGCCATGATGATGACCGCCTGTGAT CTCTCAGCCATCACCAAACCCTGGGAGGTGCAGAGCCAGGTAGCTCTGCTGGTGGCTGCT GAATTCTGGGAACAAGGTGACCTGGAGCGCACGGTGCTGCAACAGAATCCCATTCCCATG ATGGACAGAAACAAAGCAGATGAACTCCCTAAGCTTCAAGTCGGCTTCATTGACTTTGTT TGCACCTTCGTCTACAAGGAATTCTCCCGTTTCCACGAGGAGATCACCCCAATGTTGGAC GGGATCACCAACAATCGCAAGGAGTGGAAGGCGCTTGCTGATGAGTACGATGCCAAGATG AAGGTGCAGGAGGAGAAGAAGCAGAAACAGCAGTCGGCCAAGTCAGCAGCCGCAGGAAAT CAGCCGGGGGGAAACCCCAGCCCAGGGGGTGCAACTACATCCAAGTCCTGCTGCATCCAG TAA
- Chromosome Location
- 5
- Locus
- 5q32
- External Identifiers
Resource Link UniProtKB ID P16499 UniProtKB Entry Name PDE6A_HUMAN HGNC ID HGNC:8785 - General References
- Pittler SJ, Baehr W, Wasmuth JJ, McConnell DG, Champagne MS, vanTuinen P, Ledbetter D, Davis RL: Molecular characterization of human and bovine rod photoreceptor cGMP phosphodiesterase alpha-subunit and chromosomal localization of the human gene. Genomics. 1990 Feb;6(2):272-83. [Article]
- 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. [Article]
- Huang SH, Pittler SJ, Huang X, Oliveira L, Berson EL, Dryja TP: Autosomal recessive retinitis pigmentosa caused by mutations in the alpha subunit of rod cGMP phosphodiesterase. Nat Genet. 1995 Dec;11(4):468-71. [Article]
- Dryja TP, Rucinski DE, Chen SH, Berson EL: Frequency of mutations in the gene encoding the alpha subunit of rod cGMP-phosphodiesterase in autosomal recessive retinitis pigmentosa. Invest Ophthalmol Vis Sci. 1999 Jul;40(8):1859-65. [Article]