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Protein

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

Gene

PDE6B

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

This protein participates in processes of transmission and amplification of the visual signal. Necessary for the formation of a functional phosphodiesterase holoenzyme.

Catalytic activityi

Guanosine 3',5'-cyclic phosphate + H2O = guanosine 5'-phosphate.

Cofactori

a divalent metal cationBy similarityNote: Binds 2 divalent metal cations per subunit. Site 1 may preferentially bind zinc ions, while site 2 has a preference for magnesium and/or manganese ions.By similarity

Sites

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Active sitei557 – 5571Proton donorBy similarity
Metal bindingi561 – 5611Divalent metal cation 1By similarity
Metal bindingi597 – 5971Divalent metal cation 1By similarity
Metal bindingi598 – 5981Divalent metal cation 1By similarity
Metal bindingi598 – 5981Divalent metal cation 2By similarity
Metal bindingi718 – 7181Divalent metal cation 1By similarity

GO - Molecular functioni

  1. 3',5'-cyclic-GMP phosphodiesterase activity Source: BHF-UCL
  2. metal ion binding Source: UniProtKB-KW

GO - Biological processi

  1. cytosolic calcium ion homeostasis Source: BHF-UCL
  2. GMP metabolic process Source: BHF-UCL
  3. phototransduction, visible light Source: Reactome
  4. regulation of rhodopsin mediated signaling pathway Source: Reactome
  5. retina development in camera-type eye Source: Ensembl
  6. rhodopsin mediated signaling pathway Source: Reactome
  7. visual perception Source: ProtInc
Complete GO annotation...

Keywords - Molecular functioni

Hydrolase

Keywords - Biological processi

Sensory transduction, Vision

Keywords - Ligandi

cGMP, Metal-binding

Enzyme and pathway databases

ReactomeiREACT_163919. Inactivation, recovery and regulation of the phototransduction cascade.
REACT_163932. Activation of the phototransduction cascade.
REACT_263982. Ca2+ pathway.

Names & Taxonomyi

Protein namesi
Recommended name:
Rod cGMP-specific 3',5'-cyclic phosphodiesterase subunit beta (EC:3.1.4.35)
Short name:
GMP-PDE beta
Gene namesi
Name:PDE6B
Synonyms:PDEB
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640 Componenti: Chromosome 4

Organism-specific databases

HGNCiHGNC:8786. PDE6B.

Subcellular locationi

GO - Cellular componenti

  1. photoreceptor disc membrane Source: Reactome
  2. plasma membrane Source: Reactome
Complete GO annotation...

Keywords - Cellular componenti

Membrane

Pathology & Biotechi

Involvement in diseasei

Retinitis pigmentosa 40 (RP40)7 Publications

The disease is caused by mutations affecting the gene represented in this entry.

Disease descriptionA retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well.

See also OMIM:613801
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti74 – 741R → C in RP40; autosomal recessive.
VAR_009283
Natural varianti100 – 1001R → H in RP40. 1 Publication
VAR_068361
Natural varianti219 – 2191Y → H in RP40; autosomal recessive.
Corresponds to variant rs62295357 [ dbSNP | Ensembl ].
VAR_009286
Natural varianti228 – 2281L → H in RP40; autosomal recessive and autosomal dominant. 1 Publication
VAR_009287
Natural varianti527 – 5271L → P in RP40; autosomal recessive.
VAR_009290
Natural varianti535 – 5351I → N in RP40; autosomal recessive. 1 Publication
VAR_009291
Natural varianti552 – 5521R → Q in RP40; autosomal recessive. 1 Publication
VAR_009292
Natural varianti557 – 5571H → Y in RP40; autosomal dominant. 1 Publication
VAR_006050
Natural varianti576 – 5761G → D in RP40; autosomal recessive. 1 Publication
VAR_006051
Natural varianti699 – 6991L → R in RP40; autosomal recessive. 1 Publication
VAR_006052
Natural varianti776 – 7761D → N in RP40. 1 Publication
Corresponds to variant rs141563823 [ dbSNP | Ensembl ].
VAR_068362
Natural varianti854 – 8541L → R in RP40; autosomal recessive.
VAR_009293
Night blindness, congenital stationary, autosomal dominant 2 (CSNBAD2)1 Publication

The disease is caused by mutations affecting the gene represented in this entry.

Disease descriptionA non-progressive retinal disorder characterized by impaired night vision, often associated with nystagmus and myopia.

See also OMIM:163500
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti258 – 2581H → N in CSNBAD2. 1 Publication
VAR_009289

Keywords - Diseasei

Congenital stationary night blindness, Disease mutation, Retinitis pigmentosa

Organism-specific databases

MIMi163500. phenotype.
613801. phenotype.
Orphaneti215. Congenital stationary night blindness.
791. Retinitis pigmentosa.
PharmGKBiPA33134.

Chemistry

DrugBankiDB00201. Caffeine.

Polymorphism and mutation databases

BioMutaiPDE6B.
DMDMi226693550.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Initiator methioninei1 – 11RemovedBy similarity
Chaini2 – 851850Rod cGMP-specific 3',5'-cyclic phosphodiesterase subunit betaPRO_0000023348Add
BLAST
Propeptidei852 – 8543Removed in mature formBy similarityPRO_0000023349

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei2 – 21N-acetylserineBy similarity
Lipidationi851 – 8511S-geranylgeranyl cysteineBy similarity

Keywords - PTMi

Acetylation, Lipoprotein, Prenylation

Proteomic databases

PaxDbiP35913.
PRIDEiP35913.

PTM databases

PhosphoSiteiP35913.

Expressioni

Gene expression databases

BgeeiP35913.
CleanExiHS_PDE6B.
ExpressionAtlasiP35913. baseline.
GenevestigatoriP35913.

Interactioni

Subunit structurei

Oligomer composed of two catalytic chains (alpha and beta), an inhibitory chain (gamma) and the delta chain.

Protein-protein interaction databases

BioGridi111184. 1 interaction.
STRINGi9606.ENSP00000420295.

Structurei

3D structure databases

ProteinModelPortaliP35913.
SMRiP35913. Positions 52-446, 484-813.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini71 – 220150GAF 1Add
BLAST
Domaini252 – 429178GAF 2Add
BLAST

Sequence similaritiesi

Contains 2 GAF domains.Curated

Keywords - Domaini

Repeat

Phylogenomic databases

eggNOGiNOG242608.
GeneTreeiENSGT00760000119066.
HOGENOMiHOG000007069.
HOVERGENiHBG053539.
KOiK13756.
OMAiGVVKKFQ.
OrthoDBiEOG7BGHK1.
PhylomeDBiP35913.
TreeFamiTF316499.

Family and domain databases

Gene3Di1.10.1300.10. 1 hit.
3.30.450.40. 3 hits.
InterProiIPR003018. GAF.
IPR029016. GAF_dom_like.
IPR003607. HD/PDEase_dom.
IPR023088. PDEase.
IPR002073. PDEase_catalytic_dom.
IPR023174. PDEase_CS.
[Graphical view]
PfamiPF01590. GAF. 2 hits.
PF00233. PDEase_I. 1 hit.
[Graphical view]
PRINTSiPR00387. PDIESTERASE1.
SMARTiSM00065. GAF. 2 hits.
SM00471. HDc. 1 hit.
[Graphical view]
SUPFAMiSSF55781. SSF55781. 3 hits.
PROSITEiPS00126. PDEASE_I. 1 hit.
[Graphical view]

Sequences (3)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: P35913-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MSLSEEQARS FLDQNPDFAR QYFGKKLSPE NVAAACEDGC PPDCDSLRDL
60 70 80 90 100
CQVEESTALL ELVQDMQESI NMERVVFKVL RRLCTLLQAD RCSLFMYRQR
110 120 130 140 150
NGVAELATRL FSVQPDSVLE DCLVPPDSEI VFPLDIGVVG HVAQTKKMVN
160 170 180 190 200
VEDVAECPHF SSFADELTDY KTKNMLATPI MNGKDVVAVI MAVNKLNGPF
210 220 230 240 250
FTSEDEDVFL KYLNFATLYL KIYHLSYLHN CETRRGQVLL WSANKVFEEL
260 270 280 290 300
TDIERQFHKA FYTVRAYLNC ERYSVGLLDM TKEKEFFDVW SVLMGESQPY
310 320 330 340 350
SGPRTPDGRE IVFYKVIDYV LHGKEEIKVI PTPSADHWAL ASGLPSYVAE
360 370 380 390 400
SGFICNIMNA SADEMFKFQE GALDDSGWLI KNVLSMPIVN KKEEIVGVAT
410 420 430 440 450
FYNRKDGKPF DEQDEVLMES LTQFLGWSVM NTDTYDKMNK LENRKDIAQD
460 470 480 490 500
MVLYHVKCDR DEIQLILPTR ARLGKEPADC DEDELGEILK EELPGPTTFD
510 520 530 540 550
IYEFHFSDLE CTELDLVKCG IQMYYELGVV RKFQIPQEVL VRFLFSISKG
560 570 580 590 600
YRRITYHNWR HGFNVAQTMF TLLMTGKLKS YYTDLEAFAM VTAGLCHDID
610 620 630 640 650
HRGTNNLYQM KSQNPLAKLH GSSILERHHL EFGKFLLSEE TLNIYQNLNR
660 670 680 690 700
RQHEHVIHLM DIAIIATDLA LYFKKRAMFQ KIVDESKNYQ DKKSWVEYLS
710 720 730 740 750
LETTRKEIVM AMMMTACDLS AITKPWEVQS KVALLVAAEF WEQGDLERTV
760 770 780 790 800
LDQQPIPMMD RNKAAELPKL QVGFIDFVCT FVYKEFSRFH EEILPMFDRL
810 820 830 840 850
QNNRKEWKAL ADEYEAKVKA LEEKEEEERV AAKKVGTEIC NGGPAPKSST

CCIL
Length:854
Mass (Da):98,336
Last modified:April 14, 2009 - v2
Checksum:iBB11A519BE88C9DF
GO
Isoform 2 (identifier: P35913-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     835-835: Missing.

Show »
Length:853
Mass (Da):98,237
Checksum:i1EE848D6E7BAB8BE
GO
Isoform 3 (identifier: P35913-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-279: Missing.

Note: No experimental confirmation available.

Show »
Length:575
Mass (Da):66,494
Checksum:i9A1DDC1F0956A149
GO

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti33 – 353AAA → GRG in CAA44569 (PubMed:1720239).Curated
Sequence conflicti33 – 353AAA → GRG in CAA46932 (PubMed:1338685).Curated
Sequence conflicti33 – 353AAA → GRG in AAB22690 (PubMed:1322354).Curated
Sequence conflicti315 – 3151K → Q in CAA44569 (PubMed:1720239).Curated
Sequence conflicti320 – 3201V → L in CAA44569 (PubMed:1720239).Curated
Sequence conflicti360 – 3601A → R in CAA44569 (PubMed:1720239).Curated
Sequence conflicti698 – 6981Y → I in CAA44569 (PubMed:1720239).Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti74 – 741R → C in RP40; autosomal recessive.
VAR_009283
Natural varianti100 – 1001R → H in RP40. 1 Publication
VAR_068361
Natural varianti166 – 1661E → K.1 Publication
Corresponds to variant rs115775983 [ dbSNP | Ensembl ].
VAR_009284
Natural varianti212 – 2121Y → H.1 Publication
VAR_009285
Natural varianti219 – 2191Y → H in RP40; autosomal recessive.
Corresponds to variant rs62295357 [ dbSNP | Ensembl ].
VAR_009286
Natural varianti228 – 2281L → H in RP40; autosomal recessive and autosomal dominant. 1 Publication
VAR_009287
Natural varianti228 – 2281L → I.
VAR_009288
Natural varianti258 – 2581H → N in CSNBAD2. 1 Publication
VAR_009289
Natural varianti320 – 3201V → I.6 Publications
Corresponds to variant rs10902758 [ dbSNP | Ensembl ].
VAR_054868
Natural varianti527 – 5271L → P in RP40; autosomal recessive.
VAR_009290
Natural varianti535 – 5351I → N in RP40; autosomal recessive. 1 Publication
VAR_009291
Natural varianti552 – 5521R → Q in RP40; autosomal recessive. 1 Publication
VAR_009292
Natural varianti557 – 5571H → Y in RP40; autosomal dominant. 1 Publication
VAR_006050
Natural varianti576 – 5761G → D in RP40; autosomal recessive. 1 Publication
VAR_006051
Natural varianti654 – 6541E → D.2 Publications
Corresponds to variant rs17849286 [ dbSNP | Ensembl ].
VAR_054869
Natural varianti699 – 6991L → R in RP40; autosomal recessive. 1 Publication
VAR_006052
Natural varianti776 – 7761D → N in RP40. 1 Publication
Corresponds to variant rs141563823 [ dbSNP | Ensembl ].
VAR_068362
Natural varianti854 – 8541L → R in RP40; autosomal recessive.
VAR_009293

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 279279Missing in isoform 3. 1 PublicationVSP_044919Add
BLAST
Alternative sequencei835 – 8351Missing in isoform 2. 2 PublicationsVSP_036884

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
X62692
, X62693, X62694, X62695 Genomic DNA. Translation: CAA44569.1.
X66142 mRNA. Translation: CAA46932.1.
S41458 mRNA. Translation: AAB22690.1.
BT009794 mRNA. Translation: AAP88796.1.
AK316054 mRNA. Translation: BAH14425.1.
AC107464 Genomic DNA. No translation available.
BC000249 mRNA. Translation: AAH00249.1.
X90587
, X90588, X90589, X90590 Genomic DNA. Translation: CAA62215.1.
CCDSiCCDS33932.1. [P35913-1]
CCDS46993.1. [P35913-3]
CCDS54703.1. [P35913-2]
PIRiA42828.
RefSeqiNP_000274.2. NM_000283.3.
NP_001138763.1. NM_001145291.1.
NP_001138764.1. NM_001145292.1.
UniGeneiHs.623810.
Hs.654544.

Genome annotation databases

EnsembliENST00000255622; ENSP00000255622; ENSG00000133256. [P35913-2]
ENST00000429163; ENSP00000406334; ENSG00000133256. [P35913-3]
ENST00000496514; ENSP00000420295; ENSG00000133256. [P35913-1]
GeneIDi5158.
KEGGihsa:5158.
UCSCiuc003gao.4. human. [P35913-2]
uc003gap.3. human. [P35913-1]

Polymorphism and mutation databases

BioMutaiPDE6B.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Web resourcesi

Mutations of the PDE6A/B/G genes

Retina International's Scientific Newsletter

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
X62692
, X62693, X62694, X62695 Genomic DNA. Translation: CAA44569.1.
X66142 mRNA. Translation: CAA46932.1.
S41458 mRNA. Translation: AAB22690.1.
BT009794 mRNA. Translation: AAP88796.1.
AK316054 mRNA. Translation: BAH14425.1.
AC107464 Genomic DNA. No translation available.
BC000249 mRNA. Translation: AAH00249.1.
X90587
, X90588, X90589, X90590 Genomic DNA. Translation: CAA62215.1.
CCDSiCCDS33932.1. [P35913-1]
CCDS46993.1. [P35913-3]
CCDS54703.1. [P35913-2]
PIRiA42828.
RefSeqiNP_000274.2. NM_000283.3.
NP_001138763.1. NM_001145291.1.
NP_001138764.1. NM_001145292.1.
UniGeneiHs.623810.
Hs.654544.

3D structure databases

ProteinModelPortaliP35913.
SMRiP35913. Positions 52-446, 484-813.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi111184. 1 interaction.
STRINGi9606.ENSP00000420295.

Chemistry

ChEMBLiCHEMBL2363066.
DrugBankiDB00201. Caffeine.

PTM databases

PhosphoSiteiP35913.

Polymorphism and mutation databases

BioMutaiPDE6B.
DMDMi226693550.

Proteomic databases

PaxDbiP35913.
PRIDEiP35913.

Protocols and materials databases

DNASUi5158.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000255622; ENSP00000255622; ENSG00000133256. [P35913-2]
ENST00000429163; ENSP00000406334; ENSG00000133256. [P35913-3]
ENST00000496514; ENSP00000420295; ENSG00000133256. [P35913-1]
GeneIDi5158.
KEGGihsa:5158.
UCSCiuc003gao.4. human. [P35913-2]
uc003gap.3. human. [P35913-1]

Organism-specific databases

CTDi5158.
GeneCardsiGC04P000609.
GeneReviewsiPDE6B.
H-InvDBHIX0031458.
HIX0031649.
HGNCiHGNC:8786. PDE6B.
MIMi163500. phenotype.
180072. gene.
613801. phenotype.
neXtProtiNX_P35913.
Orphaneti215. Congenital stationary night blindness.
791. Retinitis pigmentosa.
PharmGKBiPA33134.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiNOG242608.
GeneTreeiENSGT00760000119066.
HOGENOMiHOG000007069.
HOVERGENiHBG053539.
KOiK13756.
OMAiGVVKKFQ.
OrthoDBiEOG7BGHK1.
PhylomeDBiP35913.
TreeFamiTF316499.

Enzyme and pathway databases

ReactomeiREACT_163919. Inactivation, recovery and regulation of the phototransduction cascade.
REACT_163932. Activation of the phototransduction cascade.
REACT_263982. Ca2+ pathway.

Miscellaneous databases

ChiTaRSiPDE6B. human.
GeneWikiiPDE6B.
GenomeRNAii5158.
NextBioi19954.
PROiP35913.
SOURCEiSearch...

Gene expression databases

BgeeiP35913.
CleanExiHS_PDE6B.
ExpressionAtlasiP35913. baseline.
GenevestigatoriP35913.

Family and domain databases

Gene3Di1.10.1300.10. 1 hit.
3.30.450.40. 3 hits.
InterProiIPR003018. GAF.
IPR029016. GAF_dom_like.
IPR003607. HD/PDEase_dom.
IPR023088. PDEase.
IPR002073. PDEase_catalytic_dom.
IPR023174. PDEase_CS.
[Graphical view]
PfamiPF01590. GAF. 2 hits.
PF00233. PDEase_I. 1 hit.
[Graphical view]
PRINTSiPR00387. PDIESTERASE1.
SMARTiSM00065. GAF. 2 hits.
SM00471. HDc. 1 hit.
[Graphical view]
SUPFAMiSSF55781. SSF55781. 3 hits.
PROSITEiPS00126. PDEASE_I. 1 hit.
[Graphical view]
ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  1. "Genomic organization and complete sequence of the human gene encoding the beta-subunit of the cGMP phosphodiesterase and its localisation to 4p16.3."
    Weber B., Riess O., Hutchinson G., Collins C., Lin B., Kowbel D., Andrew S., Schappert K.T., Hayden M.R.
    Nucleic Acids Res. 19:6263-6268(1991) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
  2. "Structural studies of cDNA and the gene for the beta-subunit of cGMP phosphodiesterase from human retina."
    Khramtsov N.V., Feshchenko E.A., Suslova V.A., Terpugov B.E., Rakitina T.V., Atabekova N.V., Shmukler B.E., Lipkin V.M.
    Bioorg. Khim. 18:1551-1554(1992) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), VARIANT ILE-320.
    Tissue: Retinal rod cell.
  3. "The human beta-subunit of rod photoreceptor cGMP phosphodiesterase: complete retinal cDNA sequence and evidence for expression in brain."
    Collins C., Hutchinson G., Kowbel D., Riess O., Weber B., Hayden M.R.
    Genomics 13:698-704(1992) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), VARIANT ILE-320.
    Tissue: Retina.
  4. "The human rod photoreceptor cGMP phosphodiesterase beta-subunit. Structural studies of its cDNA and gene."
    Khramtsov N.V., Feshchenko E.A., Suslova V.A., Shmukler B.E., Terpugov B.E., Rakitina T.V., Atabekova N.V., Lipkin V.M.
    FEBS Lett. 327:275-278(1993) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
    Tissue: Retina.
  5. "Cloning of human full-length CDSs in BD Creator(TM) system donor vector."
    Kalnine N., Chen X., Rolfs A., Halleck A., Hines L., Eisenstein S., Koundinya M., Raphael J., Moreira D., Kelley T., LaBaer J., Lin Y., Phelan M., Farmer A.
    Submitted (AUG-2003) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2), VARIANTS ILE-320 AND ASP-654.
  6. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
    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 T.-O., 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.
    Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3), VARIANT ILE-320.
    Tissue: Hippocampus.
  7. "Generation and annotation of the DNA sequences of human chromosomes 2 and 4."
    Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P., Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C., Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., 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 E.A., 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 S.S., Strong C.M., Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K., McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N., Swearengen-Shahid S., Snider J., Strong J.T., Thompson J., Yoakum M., Leonard S., Pearman C., Trani L., Radionenko M., Waligorski J.E., Wang C., Rock S.M., Tin-Wollam A.-M., Maupin R., Latreille P., Wendl M.C., Yang S.-P., Pohl C., Wallis J.W., Spieth J., Bieri T.A., Berkowicz N., Nelson J.O., Osborne J., Ding L., Meyer R., Sabo A., Shotland Y., Sinha P., Wohldmann P.E., Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Jones T.A., She X., Ciccarelli F.D., Izaurralde E., Taylor J., Schmutz J., Myers R.M., Cox D.R., Huang X., McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C., Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S., Miller W., Eichler E.E., Bork P., Suyama M., Torrents D., Waterston R.H., Wilson R.K.
    Nature 434:724-731(2005) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  8. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2), VARIANTS ILE-320 AND ASP-654.
    Tissue: Eye.
  9. "Heterozygous missense mutation in the rod cGMP phosphodiesterase beta-subunit gene in autosomal dominant stationary night blindness."
    Gal A., Orth U., Baehr W., Schwinger E., Rosenberg T.
    Nat. Genet. 7:64-68(1994) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 197-297, VARIANT CSNBAD2 ASN-258.
  10. Erratum
    Gal A., Orth U., Baehr W., Schwinger E., Rosenberg T.
    Nat. Genet. 7:551-551(1994) [PubMed] [Europe PMC] [Abstract]
  11. "Organization of the gene for the beta-subunit of human photoreceptor cyclic GMP phosphodiesterase."
    Suslova V.A., Suslov O.N., Kim E.E., Lipkin V.M.
    Bioorg. Khim. 22:256-263(1996) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 238-854, VARIANT ILE-320.
    Tissue: Retinal rod cell.
  12. "Recessive mutations in the gene encoding the beta-subunit of rod phosphodiesterase in patients with retinitis pigmentosa."
    McLaughlin M.E., Sandberg M.A., Berson E.L., Dryja T.P.
    Nat. Genet. 4:130-134(1993) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT RP40 TYR-557.
  13. "Mutations in the PDE6B gene in autosomal recessive retinitis pigmentosa."
    Danciger M., Blaney J., Gao Y.Q., Zhao D.Y., Heckenlively J.R., Jacobson S.G., Farber D.B.
    Genomics 30:1-7(1995) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT RP40 ASP-576.
  14. "Screening of the PDE6B gene in patients with autosomal dominant retinitis pigmentosa."
    Gao Y.Q., Danciger M., Zhao D.Y., Blaney J., Piriev N.I., Shih J., Jacobson S.G., Heckenlively J.H., Farber D.B.
    Exp. Eye Res. 62:149-154(1996) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT RP40 HIS-228, VARIANTS LYS-166 AND HIS-212.
  15. "A novel mutation in exon 17 of the beta-subunit of rod phosphodiesterase in two RP sisters of a consanguineous family."
    Valverde D., Solans T., Grinberg D., Balcells S., Vilageliu L., Bayes M., Chivelet P., Besmond C., Goossens M., Gonzalez-Duarte R., Baiget M.
    Hum. Genet. 97:35-38(1996) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT RP40 ARG-699.
  16. "Identification of a novel R552Q mutation in exon 13 of the beta-subunit of rod phosphodiesterase gene in a Spanish family with autosomal recessive retinitis pigmentosa."
    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.
    Hum. Mutat. 8:393-394(1996) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT RP40 GLN-552.
  17. "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."
    Saga M., Mashima Y., Akeo K., Kudoh J., Oguchi Y., Shimizu N.
    Curr. Eye Res. 17:332-335(1998) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT RP40 ASN-535.
  18. Cited for: VARIANTS RP40 HIS-100 AND ASN-776.

Entry informationi

Entry nameiPDE6B_HUMAN
AccessioniPrimary (citable) accession number: P35913
Secondary accession number(s): B7Z9T9
, E7ETT3, Q53XN5, Q9BWH5, Q9UD49
Entry historyi
Integrated into UniProtKB/Swiss-Prot: June 1, 1994
Last sequence update: April 14, 2009
Last modified: April 29, 2015
This is version 160 of the entry and version 2 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 4
    Human chromosome 4: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into Uniref entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.