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P35913

- PDE6B_HUMAN

UniProt

P35913 - PDE6B_HUMAN

Protein

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

Gene

PDE6B

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 154 (01 Oct 2014)
      Sequence version 2 (14 Apr 2009)
      Previous versions | rss
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    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

    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.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

    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_172761. 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: Chromosome 4

    Organism-specific databases

    HGNCiHGNC:8786. PDE6B.

    Subcellular locationi

    GO - Cellular componenti

    1. photoreceptor disc membrane Source: Reactome
    2. plasma membrane Source: Reactome

    Keywords - Cellular componenti

    Membrane

    Pathology & Biotechi

    Involvement in diseasei

    Retinitis pigmentosa 40 (RP40) [MIM:613801]: A 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.7 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    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) [MIM:163500]: A non-progressive retinal disorder characterized by impaired night vision, often associated with nystagmus and myopia.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    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.

    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

    ArrayExpressiP35913.
    BgeeiP35913.
    CleanExiHS_PDE6B.
    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, 453-816.
    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.
    HOGENOMiHOG000007069.
    HOVERGENiHBG053539.
    InParanoidiP35913.
    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. Align

    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

    MSLSEEQARS FLDQNPDFAR QYFGKKLSPE NVAAACEDGC PPDCDSLRDL    50
    CQVEESTALL ELVQDMQESI NMERVVFKVL RRLCTLLQAD RCSLFMYRQR 100
    NGVAELATRL FSVQPDSVLE DCLVPPDSEI VFPLDIGVVG HVAQTKKMVN 150
    VEDVAECPHF SSFADELTDY KTKNMLATPI MNGKDVVAVI MAVNKLNGPF 200
    FTSEDEDVFL KYLNFATLYL KIYHLSYLHN CETRRGQVLL WSANKVFEEL 250
    TDIERQFHKA FYTVRAYLNC ERYSVGLLDM TKEKEFFDVW SVLMGESQPY 300
    SGPRTPDGRE IVFYKVIDYV LHGKEEIKVI PTPSADHWAL ASGLPSYVAE 350
    SGFICNIMNA SADEMFKFQE GALDDSGWLI KNVLSMPIVN KKEEIVGVAT 400
    FYNRKDGKPF DEQDEVLMES LTQFLGWSVM NTDTYDKMNK LENRKDIAQD 450
    MVLYHVKCDR DEIQLILPTR ARLGKEPADC DEDELGEILK EELPGPTTFD 500
    IYEFHFSDLE CTELDLVKCG IQMYYELGVV RKFQIPQEVL VRFLFSISKG 550
    YRRITYHNWR HGFNVAQTMF TLLMTGKLKS YYTDLEAFAM VTAGLCHDID 600
    HRGTNNLYQM KSQNPLAKLH GSSILERHHL EFGKFLLSEE TLNIYQNLNR 650
    RQHEHVIHLM DIAIIATDLA LYFKKRAMFQ KIVDESKNYQ DKKSWVEYLS 700
    LETTRKEIVM AMMMTACDLS AITKPWEVQS KVALLVAAEF WEQGDLERTV 750
    LDQQPIPMMD RNKAAELPKL QVGFIDFVCT FVYKEFSRFH EEILPMFDRL 800
    QNNRKEWKAL ADEYEAKVKA LEEKEEEERV AAKKVGTEIC NGGPAPKSST 850
    CCIL 854
    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:
         2-279: Missing.

    Note: No experimental confirmation available.

    Show »
    Length:576
    Mass (Da):66,626
    Checksum:i4E0DA87B19325155
    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 sequencei2 – 279278Missing in isoform 3. 1 PublicationVSP_044919Add
    BLAST
    Alternative sequencei835 – 8351Missing in isoform 2. 2 PublicationsVSP_036884

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    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]
    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]
    ENST00000496514; ENSP00000420295; ENSG00000133256. [P35913-1]
    GeneIDi5158.
    KEGGihsa:5158.
    UCSCiuc003gao.4. human. [P35913-2]
    uc003gap.3. human. [P35913-1]

    Polymorphism databases

    DMDMi226693550.

    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:
    EMBL
    GenBank
    DDBJ
    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 .
    CCDSi CCDS33932.1. [P35913-1 ]
    CCDS54703.1. [P35913-2 ]
    PIRi A42828.
    RefSeqi NP_000274.2. NM_000283.3.
    NP_001138763.1. NM_001145291.1.
    NP_001138764.1. NM_001145292.1.
    UniGenei Hs.623810.
    Hs.654544.

    3D structure databases

    ProteinModelPortali P35913.
    SMRi P35913. Positions 52-446, 453-816.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 111184. 1 interaction.
    STRINGi 9606.ENSP00000420295.

    Chemistry

    BindingDBi P35913.
    ChEMBLi CHEMBL2363066.

    PTM databases

    PhosphoSitei P35913.

    Polymorphism databases

    DMDMi 226693550.

    Proteomic databases

    PaxDbi P35913.
    PRIDEi P35913.

    Protocols and materials databases

    DNASUi 5158.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000255622 ; ENSP00000255622 ; ENSG00000133256 . [P35913-2 ]
    ENST00000496514 ; ENSP00000420295 ; ENSG00000133256 . [P35913-1 ]
    GeneIDi 5158.
    KEGGi hsa:5158.
    UCSCi uc003gao.4. human. [P35913-2 ]
    uc003gap.3. human. [P35913-1 ]

    Organism-specific databases

    CTDi 5158.
    GeneCardsi GC04P000609.
    GeneReviewsi PDE6B.
    H-InvDB HIX0031458.
    HIX0031649.
    HGNCi HGNC:8786. PDE6B.
    MIMi 163500. phenotype.
    180072. gene.
    613801. phenotype.
    neXtProti NX_P35913.
    Orphaneti 215. Congenital stationary night blindness.
    791. Retinitis pigmentosa.
    PharmGKBi PA33134.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG242608.
    HOGENOMi HOG000007069.
    HOVERGENi HBG053539.
    InParanoidi P35913.
    KOi K13756.
    OMAi GVVKKFQ.
    OrthoDBi EOG7BGHK1.
    PhylomeDBi P35913.
    TreeFami TF316499.

    Enzyme and pathway databases

    Reactomei REACT_163919. Inactivation, recovery and regulation of the phototransduction cascade.
    REACT_163932. Activation of the phototransduction cascade.
    REACT_172761. Ca2+ pathway.

    Miscellaneous databases

    ChiTaRSi PDE6B. human.
    GeneWikii PDE6B.
    GenomeRNAii 5158.
    NextBioi 19954.
    PROi P35913.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi P35913.
    Bgeei P35913.
    CleanExi HS_PDE6B.
    Genevestigatori P35913.

    Family and domain databases

    Gene3Di 1.10.1300.10. 1 hit.
    3.30.450.40. 3 hits.
    InterProi IPR003018. GAF.
    IPR029016. GAF_dom_like.
    IPR003607. HD/PDEase_dom.
    IPR023088. PDEase.
    IPR002073. PDEase_catalytic_dom.
    IPR023174. PDEase_CS.
    [Graphical view ]
    Pfami PF01590. GAF. 2 hits.
    PF00233. PDEase_I. 1 hit.
    [Graphical view ]
    PRINTSi PR00387. PDIESTERASE1.
    SMARTi SM00065. GAF. 2 hits.
    SM00471. HDc. 1 hit.
    [Graphical view ]
    SUPFAMi SSF55781. SSF55781. 3 hits.
    PROSITEi PS00126. PDEASE_I. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    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: October 1, 2014
    This is version 154 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