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Identification
HMDB Protein ID HMDBP00634
Secondary Accession Numbers
  • 5906
Name Rod cGMP-specific 3',5'-cyclic phosphodiesterase subunit beta
Synonyms
  1. GMP-PDE beta
Gene Name PDE6B
Protein Type Enzyme
Biological Properties
General Function Involved in catalytic activity
Specific Function This protein participates in processes of transmission and amplification of the visual signal. Necessary for the formation of a functional phosphodiesterase holoenzyme.
Pathways
  • Phototransduction
  • Purine metabolism
Reactions
Guanosine 3',5'-cyclic phosphate + Water → Guanosine monophosphate details
Cyclic GMP + Water → Guanosine monophosphate details
GO Classification
Biological Process
signal transduction
retina development in camera-type eye
blood coagulation
metabolic process
cytosolic calcium ion homeostasis
visual perception
GMP metabolic process
detection of light stimulus
phototransduction, visible light
Cellular Component
cytosol
membrane
Function
hydrolase activity, acting on ester bonds
catalytic activity
hydrolase activity
cyclic-nucleotide phosphodiesterase activity
3',5'-cyclic-nucleotide phosphodiesterase activity
phosphoric ester hydrolase activity
phosphoric diester hydrolase activity
Molecular Function
metal ion binding
3',5'-cyclic-nucleotide phosphodiesterase activity
3',5'-cyclic-GMP phosphodiesterase activity
Process
biological regulation
regulation of biological process
regulation of cellular process
signal transduction
Cellular Location
  1. Lipid-anchor
  2. Membrane
Gene Properties
Chromosome Location 4
Locus 4p16.3
SNPs PDE6B
Gene Sequence
>2565 bp
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
Protein Properties
Number of Residues 854
Molecular Weight 98348.955
Theoretical pI 5.233
Pfam Domain Function
Signals Not Available
Transmembrane Regions Not Available
Protein Sequence
>Rod cGMP-specific 3',5'-cyclic phosphodiesterase subunit beta
MSLSEEQARSFLDQNPDFARQYFGKKLSPENVAAACEDGCPPDCDSLRDLCQVEESTALL
ELVQDMQESINMERVVFKVLRRLCTLLQADRCSLFMYRQRNGVAELATRLFSVQPDSVLE
DCLVPPDSEIVFPLDIGVVGHVAQTKKMVNVEDVAECPHFSSFADELTDYKTKNMLATPI
MNGKDVVAVIMAVNKLNGPFFTSEDEDVFLKYLNFATLYLKIYHLSYLHNCETRRGQVLL
WSANKVFEELTDIERQFHKAFYTVRAYLNCERYSVGLLDMTKEKEFFDVWSVLMGESQPY
SGPRTPDGREIVFYKVIDYVLHGKEEIKVIPTPSADHWALASGLPSYVAESGFICNIMNA
SADEMFKFQEGALDDSGWLIKNVLSMPIVNKKEEIVGVATFYNRKDGKPFDEQDEVLMES
LTQFLGWSVMNTDTYDKMNKLENRKDIAQDMVLYHVKCDRDEIQLILPTRARLGKEPADC
DEDELGEILKEELPGPTTFDIYEFHFSDLECTELDLVKCGIQMYYELGVVRKFQIPQEVL
VRFLFSISKGYRRITYHNWRHGFNVAQTMFTLLMTGKLKSYYTDLEAFAMVTAGLCHDID
HRGTNNLYQMKSQNPLAKLHGSSILERHHLEFGKFLLSEETLNIYQNLNRRQHEHVIHLM
DIAIIATDLALYFKKRAMFQKIVDESKNYQDKKSWVEYLSLETTRKEIVMAMMMTACDLS
AITKPWEVQSKVALLVAAEFWEQGDLERTVLDQQPIPMMDRNKAAELPKLQVGFIDFVCT
FVYKEFSRFHEEILPMFDRLQNNRKEWKALADEYEAKVKALEEKEEEERVAAKKVGTEIC
NGGPAPKSSTCCIL
GenBank ID Protein 105990537
UniProtKB/Swiss-Prot ID P35913
UniProtKB/Swiss-Prot Entry Name PDE6B_HUMAN
PDB IDs Not Available
GenBank Gene ID NM_000283.3
GeneCard ID PDE6B
GenAtlas ID PDE6B
HGNC ID HGNC:8786
References
General References
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  3. 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 ]
  4. 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 ]
  5. 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 ]
  6. 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 ]
  7. 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 ]
  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 Aug;7(4):551. [PubMed:7951329 ]
  9. 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 ]
  10. 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 ]
  11. 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 ]
  12. 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 ]
  13. 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 ]
  14. 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 ]
  15. 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 ]