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The Protein Pages

cGMP Phosphodiesterase
(PDE6)

To see compiled data on further species click on the topics.
To see the reference for the human data click on the data

Editor's Notes from the Literature

Recent update from: 07.07.00

Description
Phosphodiesterase (PDE6) establishes the second amplification step in the visual cascade by hydrolyzation of 5'3' cyclic -GMP into GMP.

Subunits: 4

Subunit Rods Cones
alpha PDEA1, PDE6A PDEA2, PDE6C
beta PDEB, PDE6B
gamma PDE6G PDE6H
delta PDE6D PDE6D

GENE DATA

Exons:

Subunit Rods Cones
alpha 22 22
beta 22 /
gamma 4
delta 4

Regulatory elements:

Subunit Rods Cones
alpha 2x CAAT-box
2x TATAA like elements 		2x CAAT-box
2x TATA-box like elements
beta E-box
AP1-element
GC-box
Ret1-element
TATA-box
c-Myc-element
HS-like element
ATF-like element 		/
gamma

delta

Markers / RFLPs:

Subunit Rods Cones
alpha RFLP: ScaI in exon 14
beta D4S228, D4S133, D4S90 /
gamma RFLP: BstEII, EcoRI
delta

Transcripts:

Subunit Rods Cones
alpha 5.3 - 4.9 kb 3.2 kb
beta 3.5 kb /
gamma 1 kb
delta 1,35 kb
Chromosomes with phosphodiesterase loci

Assignment:

Subunit Rods Cones
alpha 5q31.2-q34 10q24
beta 4p16.3 /
gamma 17q25 12p13
delta 2q35-36

Involvement in Retinal Degenerations:


click here to see a compilation of

CLICK

several Mutations found to underlie

PROTEIN DATA

Amino acids:

Subunit Rods Cones
alpha 859 AA 859 AA
beta 854 AA /
gamma 87 AA 83 AA
delta 150 AA

Modifications:

Subunit Rods Cones
alpha
  • carboxymethylated
  • farnesylated

beta geranylated
gamma
  • PRKA phosphorylates Thr 35
  • PDEG kinase (cdk5) phosphorylates Thr 20
  • ADP ribosylation at Arg 33 and Arg 36

delta 2 consensus sites for N-linked glycosylation

Mr/ Weight:

Subunit Rods Cones
alpha 100 kDa 94 kDa
beta 98.4 kDa /
gamma 9.7 kDa
delta 17 kDa

Cofactors:

Subunit Rods Cones
alpha Mg2+-cGMP-complex
beta
/
gamma

delta

PROTEIN DATA

Click on entry to see database record online
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Protein Subtype Locus Species EC-No. Swissprot PIR Prosite
cGMP Phosphodiesterase alpha PDEA1 Bos taurus EC 3.1.4.35 P11541 S06418 A34611 S27007 S00161 S08516 PS00126
cGMP Phosphodiesterase alpha cone PDEA2 Bos taurus EC 3.1.4.35
A34810 A34809
cGMP Phosphodiesterase beta PDEB Bos taurus EC 3.1.4.35 P23439 S36617 S19145 S37743 S38131 S38129 JH0686 S26348 PS00126
cGMP Phosphodiesterase gamma PDEG Bos taurus EC 3.1.4.35 P04972 A25268 A42229 A29580
cGMP Phosphodiesterase gamma cone PDEG Bos taurus EC 3.1.4.17 P22571

cGMP Phosphodiesterase gamma rod PDEG Bos taurus EC 3.1.4.17 P04972

cGMP Phosphodiesterase beta PDEB Canis familiaris EC 3.1.4.35 P33726 A47451 S34290 PS00126
cGMP Phosphodiesterase gamma rod PDEG Canis familiaris EC 3.1.4.35 P54827

cGMP Phosphodiesterase alpha cone PDEA2,PDE6C Homo sapiens EC 3.1.4.35
JC4520 S63688
cGMP Phosphodiesterase alpha rod PDEA1, PDE6A Homo sapiens EC 3.1.4.35 P51160 B34611
cGMP Phosphodiesterase beta rod PDEB, PDE6B Homo sapiens EC 3.1.4.35 Q13264 P35913 Q16340 P18545 S23744 S34590 JH0142 PS00126
cGMP Phosphodiesterase gamma cone PDEG, PDE6H Homo sapiens EC 3.1.4.35 Q13956

cGMP Phosphodiesterase gamma rod PDE6G Homo sapiens EC 3.1.4.35 P18545 JH0142 S23744
cGMP Phosphodiesterase alpha rod PDEA1 Mus musculus EC 3.1.4.35
S13030
cGMP Phosphodiesterase beta Mus musculus EC 3.1.4.35
S13032 S30762
cGMP Phosphodiesterase beta rod PDEB Mus musculus EC 3.1.4.35 P23440 S13032 S30763 PS00126
cGMP Phosphodiesterase gamma PDEG Mus musculus EC 3.1.4.35 P09174 S00612
cGMP Phosphodiesterase beta PDEB Xenopus laevis EC 3.1.4.35
A53797

GENE DATA

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Gene Subtype Locus Species Genbank Unigene Medline
cGMP Phosphodiesterase alpha PDEA1 Bos taurus M26043 M36683 X12756 M27541 M37838 M29465
88082056 88030033 90169986 90115860
cGMP Phosphodiesterase alpha cone PDEA2 Bos taurus M33140
90115859
cGMP Phosphodiesterase beta PDEB Bos taurus X57146 J05553
90267525 90330632
cGMP Phosphodiesterase delta PDED Bos taurus U65073
96394534
cGMP Phosphodiesterase delta rod PDE6D Bos taurus U65073

cGMP Phosphodiesterase gamma PDEG Bos taurus X04823 X04270
86275270
cGMP Phosphodiesterase gamma cone PDEG Bos taurus J05578

cGMP Phosphodiesterase gamma rod PDEG Bos taurus X04823 X04270 M28853
89296916
cGMP Phosphodiesterase alpha rod PDEA1 Canis familiaris U52868 Y13199 Y13282
98030067
cGMP Phosphodiesterase beta PDEB Canis familiaris L13262 L77372 Z68340 L77373 Z23014
93248211 96331105 97445667
cGMP Phosphodiesterase delta pde6d Canis familiaris AF109151 AF113996

cGMP Phosphodiesterase gamma rod PDEG Canis familiaris U49360 Z69973 U49359 P54827 X92839
97445667 96331105
cGMP Phosphodiesterase alpha cone PDEA2 Gallus gallus L29233

cGMP Phosphodiesterase alpha cone PDEA2,PDE6C Homo sapiens U31973 U20196 U20197 U20198 U20199 U20211 U20212 X94354 G28549 U20212 U20200 U20201 U20202 U20203 U20204 U20205 U20206 U20207 U20208 U20209 NM_006204 Hs.93173 96039253 96193933 96125191
cGMP Phosphodiesterase alpha rod PDEA1, PDE6A Homo sapiens U39140 U39141 U39142 U39143 U39144 U39145 U39146 U39147 U39148 U39149 U39150 U39151 U39152 U39153 U39154 U39155 U39156 U39157 U39158 U39159 U39160 U39161 U39162 U39163 U39164 U39165 U39166 U39167

cGMP Phosphodiesterase alpha rod PDEA1, PDE6A Homo sapiens X94354 M26043 M26061 G26637 U39168 U39169 U39170 U39171 U39172 U39173 U39174 U39175 U39176 U39177 U39178 U39179 U39180 U39181 U39182 U39183 U39184 U39185 U39186 U39187 U39188 U39189
96330350 96083603 90169986
cGMP Phosphodiesterase alpha rod PDEA1, PDE6A Homo sapiens U39180 U39181 U39182 U39183 U39184 U39185 U39186 U39187 U39188 U39189 Hs.182240
cGMP Phosphodiesterase beta rod PDEB, PDE6B Homo sapiens U31760 S78008 X66142 S41458 X90589 X90587 X62025 U13894 X62695 X62694 X62693 X62692 U39188 X59192 G43297 X90590 X90588 U00482 M36476 NM_000283 Hs.2593 96176528 95322980 92066478 93351644 93244036 92347868 96330350 91266687 95129879 96193933
cGMP Phosphodiesterase delta rod PDE6D Homo sapiens N41734 R81870 NM_002601 AF045999 AH006298 AF022912 AJ001626 Hs.48291
cGMP Phosphodiesterase gamma cone PDEG, PDE6H Homo sapiens D45399 NM_006205 Hs.54471
cGMP Phosphodiesterase gamma rod PDE6G Homo sapiens U00481 U00482 M36476 X62025 U00480 NM_002602 AH000039 Hs.1857 92077091 90269611
cGMP Phosphodiesterase alpha rod PDEA1 Mus musculus X60664 X57656
91130581
cGMP Phosphodiesterase beta rod PDEB Mus musculus U31761 L02109 L02110 M75166 X60133 X87952 X57656 X55968
96176528 92020845 93219403 91130581 91015387
cGMP Phosphodiesterase delta rod PDE6D Mus musculus NM_008801 AF039216 AF04600 Mm:12925
cGMP Phosphodiesterase gamma PDEG Mus musculus Y00746 Mm.39200 88211857

GENE LOCUS DATA

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Gene Subtype Locus Species Genome Database Mouse Genome Database OMIM Locus Link
cGMP Phosphodiesterase delta rod PDE6D Bos taurus 9430629


cGMP Phosphodiesterase alpha cone PDEA2,PDE6C Homo sapiens 596267
600827 5146
cGMP Phosphodiesterase alpha rod PDEA1, PDE6A Homo sapiens 120265
180071
cGMP Phosphodiesterase alpha rod PDEA1, PDE6A Homo sapiens


5145
cGMP Phosphodiesterase beta rod PDEB, PDE6B Homo sapiens 125915
180072 268000 163500 5158
cGMP Phosphodiesterase delta rod PDE6D Homo sapiens 9430629
602676 5147
cGMP Phosphodiesterase gamma cone PDEG, PDE6H Homo sapiens

601190 5149
cGMP Phosphodiesterase gamma rod PDE6G Homo sapiens 128660
180073 5148
cGMP Phosphodiesterase alpha prime cone PDE6C Mus musculus
Pde6c
18581
cGMP Phosphodiesterase alpha rod PDEA1 Mus musculus
Pdea

cGMP Phosphodiesterase beta rod PDEB Mus musculus
Pdeb

cGMP Phosphodiesterase delta rod PDE6D Mus musculus


18582
cGMP Phosphodiesterase gamma PDEG Mus musculus
Pdeg
18588

References:
1. Collins,C., Hutchinson,G., Kowbel,D., Riess,O., Weber,B., and Hayden,M.R. The human beta-subunit of rod photoreceptor cGMP phosphodiesterase: Complete retinal cDNA sequence and evidence for expression in brain. 1992; Genomics. 13: 698-704.
Goto Top Link to PudMed
2. Cotran,P.R., Bruns,G.A., Berson,E.L., and Dryja,T.P. Genetic analysis of patients with retinitis pigmentosa using a cloned cDNA probe for the human gamma subunit of cyclic GMP phosphodiesterase. 1991; Exp.Eye Res. 53: 557-564.
Goto Top Link to PudMed
3. Di Polo,A., Rickman,C.B., and Farber,D.B. Isolation and initial characterization of the 5' flanking region of the human and murine cyclic guanosine monophosphate- phosphodiesterase beta-subunit genes. 1996; Invest.Ophthalmol.Vis.Sci. 37: 551-560.
Goto Top
4. Dollfus,H., Mattei,M.G., Rozet,J.M., Delrieu,O., Munnich,A., and Kaplan,J. Physical and genetic localization of the gamma subunit of the cyclic GMP phosphodiesterase on the long arm of chromosome 17 (17q25). 1993; Genomics. 17: 526-528.
Goto Top
5. Farber,D.B. From mice to men: The cyclic GMP phosphodiesterase gene in vision and disease - The Proctor Lecture. 1995; Invest.Ophthalmol.Vis.Sci. 36: 263-275.
Goto Top
6. Feshchenko,E.A., Andreeva,S.G., Suslova,V.A., Smirnova,E.V., Zagranichny,V.E., and Lipkin,V.M. Human cone-specific cGMP phosphodiesterase alpha' subunit: complete cDNA sequence and gene arrangement. 1996; FEBS Letters. 381: 149-152.
Goto Top
7. Gao,Y.Q., Danciger,M., Yaron,Y., Heckenlively,J.R., and Farber,D.B. DGGE-Screening of the gene for the beta subunit of rod cGMP phosphodiesterase (PDE?) in RP patients. 1994; Invest.Ophthalmol.Vis.Sci. 35: 1262-1262.
Goto Top
8. Hahn,L.B., Berson,E.L., and Dryja,T.P. Evaluation of the gene encoding the gamma subunit of rod phosphodiesterase in retinitis pigmentosa. 1994; Invest.Ophthalmol.Vis.Sci. 35: 1077-1082.
Goto Top
9. Hayashi,F., Xu,L.U., Tanaka,Y., Bonderenko,V.A., Matsumoto,H., and Yamazaki,A. Phosphorylation Of The G Subunit Of Bovine Retinal cGMP Phosphodiesterase By The cAMP-Dependent Protein Kinase And Its Effect On The G Subunit Interaction With Other Proteins. 1998; Invest.Ophthalmol.Vis.Sci. 39: S953
Goto Top
10. Huang,X. and Pittler,S.J. Characterization of the human PDEA gene. 1995; Invest.Ophthalmol.Vis.Sci. Suppl.: S776
Goto Top
11. Li,N., Florio,S.K., Pettenati,M.J., Rao,P.N., Beavo,J.A., and Baehr,W. Characterization Of Human And Mouse Rod cGMP Phosphodiesterase Delta Subunit (PDE6D) And Chromosomal Localization Of The Human Gene. 1998; Genomics. 49: 76-82.
Goto Top
12. Piriev,N.I., Viczian,A.S., Ye,J.J., Kerner,B., Korenberg,J.R., and Farber,D.B. Gene structure and amino acid sequence of the human cone photoreceptor cGMP-phosphodiesterase alpha' subunit (PDEA2) and its chromosomal localization to 10q24. 1995; Genomics. 28: 429-435.
Goto Top Link to PudMed
13. Pittler,S.J., Baehr,W., Wasmuth,J.J., McConnell,D.G., Champagne,M.S., van Tuinen,P., Ledbetter,D., and Davis,R.L. Molecular characterization of human and bovine rod photoreceptor cGMP phosphodiesterase alpha-subunit and chromosomal localization of the human gene. 1990; Genomics. 6: 272-283.
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14. Schafer,W.R. and Rine,J. Protein prenylation: genes, enzymes, targets, and functions. 1992; Annu.Rev.Genet. 26: 209-237.
Goto Top
15. Shimizu Matsumoto,A., Itoh,K., Inazawa,J., Nishida,K., Matsumoto,Y., Kinoshita,S., Matsubara,K., and Okubo,K. Isolation and chromosomal localization of the human cone cGMP phosphodiesterase gamma cDNA (PDE6H). 1996; Genomics. 32: 121-124.
Goto Top
16. Srivastava,D., Hurwitz,R.L., and Fox,D.A. A cGMP Mg2+ complex is the substrate for the bovine rod cGMP phosphodiesterase. 1993; Invest.Ophthalmol.Vis.Sci. 34: 1360-1360.
Goto Top
17. Tuteja,N., Danciger,M., Klisak,I., Tuteja,R., Inana,G., Mohandas,T., Sparkes,R.S., and Farber,D.B. Isolation and characterization of cDNA encoding the gamma- subunit of cGMP phosphodiesterase in human retina. 1990; Gene. 88: 227-232.
Goto Top Link to PudMed
18. Viczian,A.S. and Farber,D.B. Characterization of the start site and 5' flanking region of human cone photoreceptor cyclic GMP-phosphodiesterase ?' subunit. 1995; Invest.Ophthalmol.Vis.Sci. 36: S430
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19. Viczian,A.S., Piriev,N.I., and Farber,D.B. Isolation and characterization of a cDNA encoding the alpha' subunit of human cone cGMP-phosphodiesterase. 1995; Gene. 166: 205-211.
Goto Top Link to PudMed
20. Weber,B., Riess,O., Hutchinson,G., Collins,C., Lin,B.Y., Kowbel,D., Andrew,S., Schappert,K., and Hayden,M.R. Genomic organization and complete sequence of the human gene encoding the beta-subunit of the cGMP phosphodiesterase and its localisation to 4p 16.3. 1991; Nucleic.Acids.Res. 19: 6263-6268.
Goto Top Link to PudMed
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Dr. rer. medic. Markus Preising, Dipl.Biol.
Molecular Genetics Laboratory
Department of Paediatric Ophthalmology, Strabismology and Ophthalmogenetics
University of Regensburg
Head: Prof. Dr. med. Birgit Lorenz