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P35913

- PDE6B_HUMAN

UniProt

P35913 - PDE6B_HUMAN

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Protein
Rod cGMP-specific 3',5'-cyclic phosphodiesterase subunit beta
Gene
PDE6B, PDEB
Organism
Homo sapiens (Human)
Status
Reviewed - 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

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 donor By similarity
Metal bindingi561 – 5611Divalent metal cation 1 By similarity
Metal bindingi597 – 5971Divalent metal cation 1 By similarity
Metal bindingi598 – 5981Divalent metal cation 1 By similarity
Metal bindingi598 – 5981Divalent metal cation 2 By similarity
Metal bindingi718 – 7181Divalent metal cation 1 By similarity

GO - Molecular functioni

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

GO - Biological processi

  1. GMP metabolic process Source: BHF-UCL
  2. cytosolic calcium ion homeostasis 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_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
Complete GO annotation...

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.
Note: The disease is caused by mutations affecting the gene represented in this entry.7 Publications
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.
Note: The disease is caused by mutations affecting the gene represented in this entry.1 Publication
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 – 11Removed By similarity
Chaini2 – 851850Rod cGMP-specific 3',5'-cyclic phosphodiesterase subunit beta
PRO_0000023348Add
BLAST
Propeptidei852 – 8543Removed in mature form By similarity
PRO_0000023349

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei2 – 21N-acetylserine By similarity
Lipidationi851 – 8511S-geranylgeranyl cysteine By 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.

Family & Domainsi

Domains and Repeats

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

Sequence similaritiesi

Contains 2 GAF domains.

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

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.
VSP_044919Add
BLAST
Alternative sequencei835 – 8351Missing in isoform 2.
VSP_036884

Sequence conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti33 – 353AAA → GRG in CAA44569. 1 Publication
Sequence conflicti33 – 353AAA → GRG in CAA46932. 1 Publication
Sequence conflicti33 – 353AAA → GRG in AAB22690. 1 Publication
Sequence conflicti315 – 3151K → Q in CAA44569. 1 Publication
Sequence conflicti320 – 3201V → L in CAA44569. 1 Publication
Sequence conflicti360 – 3601A → R in CAA44569. 1 Publication
Sequence conflicti698 – 6981Y → I in CAA44569. 1 Publication

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]
ENST00000429163; ENSP00000406334; ENSG00000133256. [P35913-3]
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...

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 ]
ENST00000429163 ; ENSP00000406334 ; ENSG00000133256 . [P35913-3 ]
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

« 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: September 3, 2014
This is version 153 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

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