P35913 (PDE6B_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Rod cGMP-specific 3',5'-cyclic phosphodiesterase subunit beta
Short name=GMP-PDE beta
EC=3.1.4.35

Gene names

Name:	PDE6B
Synonyms:	PDEB

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	854 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is further processed into a mature form.
Protein existence	Evidence at protein level

General annotation (Comments)

Function	This protein participates in processes of transmission and amplification of the visual signal. Necessary for the formation of a functional phosphodiesterase holoenzyme.
Catalytic activity	Guanosine 3',5'-cyclic phosphate + H2O = guanosine 5'-phosphate.
Cofactor	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.
Subunit structure	Oligomer composed of two catalytic chains (alpha and beta), an inhibitory chain (gamma) and the delta chain.
Subcellular location	Membrane; Lipid-anchor.
Involvement in disease	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. Ref.12 Ref.13 Ref.14 Ref.15 Ref.16 Ref.17 Ref.18 Congenital stationary night blindness, 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. Ref.9
Sequence similarities	Belongs to the cyclic nucleotide phosphodiesterase family. Contains 2 GAF domains.

Ontologies

Keywords
Biological process	Sensory transduction Vision
Cellular component	Membrane
Coding sequence diversity	Alternative splicing Polymorphism
Disease	Congenital stationary night blindness Disease mutation Retinitis pigmentosa
Domain	Repeat
Ligand	Metal-binding cGMP
Molecular function	Hydrolase
PTM	Acetylation Lipoprotein Prenylation
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	GMP metabolic process Inferred from mutant phenotype PubMed 19946729. Source: BHF-UCL blood coagulation Traceable author statement. Source: Reactome cytosolic calcium ion homeostasis Inferred from mutant phenotype PubMed 19946729. Source: BHF-UCL phototransduction, visible light Traceable author statement Ref.12. Source: ProtInc retina development in camera-type eye Inferred from electronic annotation. Source: Compara visual perception Traceable author statement Ref.12. Source: ProtInc
Cellular_component	cytosol Traceable author statement. Source: Reactome membrane Inferred from electronic annotation. Source: UniProtKB-SubCell
Molecular_function	3',5'-cyclic-GMP phosphodiesterase activity Inferred from mutant phenotype PubMed 19946729. Source: BHF-UCL metal ion binding Inferred from electronic annotation. Source: UniProtKB-KW
Complete GO annotation...

Alternative products

This entry describes 3 isoforms produced by alternative splicing. [Align] [Select]

Isoform 1 (identifier: P35913-1)

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.

Isoform 2 (identifier: P35913-2)

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

Isoform 3 (identifier: P35913-3)

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

Note: No experimental confirmation available.

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Initiator methionine	1	1	Removed By similarity
	Chain	2 – 851	850	Rod cGMP-specific 3',5'-cyclic phosphodiesterase subunit beta		PRO_0000023348
	Propeptide	852 – 854	3	Removed in mature form By similarity		PRO_0000023349
Regions
	Domain	71 – 220	150	GAF 1
	Domain	252 – 429	178	GAF 2
Sites
	Active site	557	1	Proton donor By similarity
	Metal binding	561	1	Divalent metal cation 1 By similarity
	Metal binding	597	1	Divalent metal cation 1 By similarity
	Metal binding	598	1	Divalent metal cation 1 By similarity
	Metal binding	598	1	Divalent metal cation 2 By similarity
	Metal binding	718	1	Divalent metal cation 1 By similarity
Amino acid modifications
	Modified residue	2	1	N-acetylserine By similarity
	Lipidation	851	1	S-geranylgeranyl cysteine By similarity
Natural variations
	Alternative sequence	1 – 279	279	Missing in isoform 3.		VSP_044919
	Alternative sequence	835	1	Missing in isoform 2.		VSP_036884
	Natural variant	74	1	R → C in RP40; autosomal recessive.		VAR_009283
	Natural variant	100	1	R → H in RP40. Ref.18		VAR_068361
	Natural variant	166	1	E → K. Ref.14		VAR_009284
	Natural variant	212	1	Y → H. Ref.14		VAR_009285
	Natural variant	219	1	Y → H in RP40; autosomal recessive.		VAR_009286
	Natural variant	228	1	L → H in RP40; autosomal recessive and autosomal dominant. Ref.14		VAR_009287
	Natural variant	228	1	L → I.		VAR_009288
	Natural variant	258	1	H → N in CSNBAD2. Ref.9		VAR_009289
	Natural variant	320	1	V → I. Ref.2 Ref.3 Ref.5 Ref.6 Ref.8 Ref.11 Corresponds to variant rs10902758 [ dbSNP | Ensembl ].		VAR_054868
	Natural variant	527	1	L → P in RP40; autosomal recessive.		VAR_009290
	Natural variant	535	1	I → N in RP40; autosomal recessive. Ref.17		VAR_009291
	Natural variant	552	1	R → Q in RP40; autosomal recessive. Ref.16		VAR_009292
	Natural variant	557	1	H → Y in RP40; autosomal dominant. Ref.12		VAR_006050
	Natural variant	576	1	G → D in RP40; autosomal recessive. Ref.13		VAR_006051
	Natural variant	654	1	E → D. Ref.5 Ref.8 Corresponds to variant rs17849286 [ dbSNP | Ensembl ].		VAR_054869
	Natural variant	699	1	L → R in RP40; autosomal recessive. Ref.15		VAR_006052
	Natural variant	776	1	D → N in RP40. Ref.18		VAR_068362
	Natural variant	854	1	L → R in RP40; autosomal recessive.		VAR_009293
Experimental info
	Sequence conflict	33 – 35	3	AAA → GRG in CAA44569. Ref.1
	Sequence conflict	33 – 35	3	AAA → GRG in CAA46932. Ref.2
	Sequence conflict	33 – 35	3	AAA → GRG in AAB22690. Ref.3
	Sequence conflict	315	1	K → Q in CAA44569. Ref.1
	Sequence conflict	320	1	V → L in CAA44569. Ref.1
	Sequence conflict	360	1	A → R in CAA44569. Ref.1
	Sequence conflict	698	1	Y → I in CAA44569. Ref.1

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified April 14, 2009. Version 2. Checksum: BB11A519BE88C9DF	FASTA	854	98,336
	10 20 30 40 50 60 MSLSEEQARS FLDQNPDFAR QYFGKKLSPE NVAAACEDGC PPDCDSLRDL CQVEESTALL 70 80 90 100 110 120 ELVQDMQESI NMERVVFKVL RRLCTLLQAD RCSLFMYRQR NGVAELATRL FSVQPDSVLE 130 140 150 160 170 180 DCLVPPDSEI VFPLDIGVVG HVAQTKKMVN VEDVAECPHF SSFADELTDY KTKNMLATPI 190 200 210 220 230 240 MNGKDVVAVI MAVNKLNGPF FTSEDEDVFL KYLNFATLYL KIYHLSYLHN CETRRGQVLL 250 260 270 280 290 300 WSANKVFEEL TDIERQFHKA FYTVRAYLNC ERYSVGLLDM TKEKEFFDVW SVLMGESQPY 310 320 330 340 350 360 SGPRTPDGRE IVFYKVIDYV LHGKEEIKVI PTPSADHWAL ASGLPSYVAE SGFICNIMNA 370 380 390 400 410 420 SADEMFKFQE GALDDSGWLI KNVLSMPIVN KKEEIVGVAT FYNRKDGKPF DEQDEVLMES 430 440 450 460 470 480 LTQFLGWSVM NTDTYDKMNK LENRKDIAQD MVLYHVKCDR DEIQLILPTR ARLGKEPADC 490 500 510 520 530 540 DEDELGEILK EELPGPTTFD IYEFHFSDLE CTELDLVKCG IQMYYELGVV RKFQIPQEVL 550 560 570 580 590 600 VRFLFSISKG YRRITYHNWR HGFNVAQTMF TLLMTGKLKS YYTDLEAFAM VTAGLCHDID 610 620 630 640 650 660 HRGTNNLYQM KSQNPLAKLH GSSILERHHL EFGKFLLSEE TLNIYQNLNR RQHEHVIHLM 670 680 690 700 710 720 DIAIIATDLA LYFKKRAMFQ KIVDESKNYQ DKKSWVEYLS LETTRKEIVM AMMMTACDLS 730 740 750 760 770 780 AITKPWEVQS KVALLVAAEF WEQGDLERTV LDQQPIPMMD RNKAAELPKL QVGFIDFVCT 790 800 810 820 830 840 FVYKEFSRFH EEILPMFDRL QNNRKEWKAL ADEYEAKVKA LEEKEEEERV AAKKVGTEIC 850 NGGPAPKSST CCIL
	Isoform 2 [UniParc]. Checksum: 1EE848D6E7BAB8BE	FASTA	853	98,237
	10 20 30 40 50 60 MSLSEEQARS FLDQNPDFAR QYFGKKLSPE NVAAACEDGC PPDCDSLRDL CQVEESTALL 70 80 90 100 110 120 ELVQDMQESI NMERVVFKVL RRLCTLLQAD RCSLFMYRQR NGVAELATRL FSVQPDSVLE 130 140 150 160 170 180 DCLVPPDSEI VFPLDIGVVG HVAQTKKMVN VEDVAECPHF SSFADELTDY KTKNMLATPI 190 200 210 220 230 240 MNGKDVVAVI MAVNKLNGPF FTSEDEDVFL KYLNFATLYL KIYHLSYLHN CETRRGQVLL 250 260 270 280 290 300 WSANKVFEEL TDIERQFHKA FYTVRAYLNC ERYSVGLLDM TKEKEFFDVW SVLMGESQPY 310 320 330 340 350 360 SGPRTPDGRE IVFYKVIDYV LHGKEEIKVI PTPSADHWAL ASGLPSYVAE SGFICNIMNA 370 380 390 400 410 420 SADEMFKFQE GALDDSGWLI KNVLSMPIVN KKEEIVGVAT FYNRKDGKPF DEQDEVLMES 430 440 450 460 470 480 LTQFLGWSVM NTDTYDKMNK LENRKDIAQD MVLYHVKCDR DEIQLILPTR ARLGKEPADC 490 500 510 520 530 540 DEDELGEILK EELPGPTTFD IYEFHFSDLE CTELDLVKCG IQMYYELGVV RKFQIPQEVL 550 560 570 580 590 600 VRFLFSISKG YRRITYHNWR HGFNVAQTMF TLLMTGKLKS YYTDLEAFAM VTAGLCHDID 610 620 630 640 650 660 HRGTNNLYQM KSQNPLAKLH GSSILERHHL EFGKFLLSEE TLNIYQNLNR RQHEHVIHLM 670 680 690 700 710 720 DIAIIATDLA LYFKKRAMFQ KIVDESKNYQ DKKSWVEYLS LETTRKEIVM AMMMTACDLS 730 740 750 760 770 780 AITKPWEVQS KVALLVAAEF WEQGDLERTV LDQQPIPMMD RNKAAELPKL QVGFIDFVCT 790 800 810 820 830 840 FVYKEFSRFH EEILPMFDRL QNNRKEWKAL ADEYEAKVKA LEEKEEEERV AAKKGTEICN 850 GGPAPKSSTC CIL
	Isoform 3 [UniParc]. Checksum: 9A1DDC1F0956A149	FASTA	575	66,494
	10 20 30 40 50 60 MTKEKEFFDV WSVLMGESQP YSGPRTPDGR EIVFYKVIDY VLHGKEEIKV IPTPSADHWA 70 80 90 100 110 120 LASGLPSYVA ESGFICNIMN ASADEMFKFQ EGALDDSGWL IKNVLSMPIV NKKEEIVGVA 130 140 150 160 170 180 TFYNRKDGKP FDEQDEVLME SLTQFLGWSV MNTDTYDKMN KLENRKDIAQ DMVLYHVKCD 190 200 210 220 230 240 RDEIQLILPT RARLGKEPAD CDEDELGEIL KEELPGPTTF DIYEFHFSDL ECTELDLVKC 250 260 270 280 290 300 GIQMYYELGV VRKFQIPQEV LVRFLFSISK GYRRITYHNW RHGFNVAQTM FTLLMTGKLK 310 320 330 340 350 360 SYYTDLEAFA MVTAGLCHDI DHRGTNNLYQ MKSQNPLAKL HGSSILERHH LEFGKFLLSE 370 380 390 400 410 420 ETLNIYQNLN RRQHEHVIHL MDIAIIATDL ALYFKKRAMF QKIVDESKNY QDKKSWVEYL 430 440 450 460 470 480 SLETTRKEIV MAMMMTACDL SAITKPWEVQ SKVALLVAAE FWEQGDLERT VLDQQPIPMM 490 500 510 520 530 540 DRNKAAELPK LQVGFIDFVC TFVYKEFSRF HEEILPMFDR LQNNRKEWKA LADEYEAKVK 550 560 570 ALEEKEEEER VAAKKVGTEI CNGGPAPKSS TCCIL

References

	« Hide 'large scale' referencesShow 'large scale' references »
[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]	"Next-generation genetic testing for retinitis pigmentosa." Neveling K., Collin R.W., Gilissen C., van Huet R.A., Visser L., Kwint M.P., Gijsen S.J., Zonneveld M.N., Wieskamp N., de Ligt J., Siemiatkowska A.M., Hoefsloot L.H., Buckley M.F., Kellner U., Branham K.E., den Hollander A.I., Hoischen A., Hoyng C. , Klevering B.J., van den Born L.I., Veltman J.A., Cremers F.P., Scheffer H. Hum. Mutat. 33:963-972(2012) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS RP40 HIS-100 AND ASN-776.
+	Additional computationally mapped references.

Web resources

Mutations of the PDE6A/B/G genes

Retina International's Scientific Newsletter

GeneReviews

Cross-references

Sequence databases
EMBL GenBank DDBJ	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.
IPI	IPI00784027. IPI00921912. IPI00922666.
PIR	A42828.
RefSeq	NP_000274.2. NM_000283.3. NP_001138763.1. NM_001145291.1. NP_001138764.1. NM_001145292.1.
UniGene	Hs.623810. Hs.654544.
3D structure databases
ProteinModelPortal	P35913.
ModBase	Search...
Protein-protein interaction databases
STRING	9606.ENSP00000420295.
PTM databases
PhosphoSite	P35913.
Polymorphism databases
DMDM	226693550.
Proteomic databases
PaxDb	P35913.
PRIDE	P35913.
Protocols and materials databases
DNASU	5158.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000255622; ENSP00000255622; ENSG00000133256. ENST00000429163; ENSP00000406334; ENSG00000133256. ENST00000496514; ENSP00000420295; ENSG00000133256.
GeneID	5158.
KEGG	hsa:5158.
UCSC	uc003gao.4. human. uc003gap.3. human.
Organism-specific databases
CTD	5158.
GeneCards	GC04P000609.
H-InvDB	HIX0031458. HIX0031649.
HGNC	HGNC:8786. PDE6B.
MIM	163500. phenotype. 180072. gene. 613801. phenotype.
neXtProt	NX_P35913.
Orphanet	215. Congenital stationary night blindness. 791. Retinitis pigmentosa.
PharmGKB	PA33134.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG242608.
HOGENOM	HOG000007069.
HOVERGEN	HBG053539.
InParanoid	P35913.
KO	K13756.
OMA	KSWVEYL.
OrthoDB	EOG44TP77.
Enzyme and pathway databases
Pathway_Interaction_DB	rhodopsin_pathway. Visual signal transduction: Rods.
Reactome	REACT_604. Hemostasis.
Gene expression databases
ArrayExpress	P35913.
Bgee	P35913.
CleanEx	HS_PDE6B.
Genevestigator	P35913.
GermOnline	ENSG00000133256. Homo sapiens.
Family and domain databases
Gene3D	1.10.1300.10. 1 hit.
InterPro	IPR003018. GAF. IPR003607. HD/PDEase_dom. IPR023088. PDEase. IPR002073. PDEase_catalytic_dom. IPR023174. PDEase_CS. [Graphical view]
Pfam	PF01590. GAF. 2 hits. PF00233. PDEase_I. 1 hit. [Graphical view]
PRINTS	PR00387. PDIESTERASE1.
SMART	SM00065. GAF. 2 hits. SM00471. HDc. 1 hit. [Graphical view]
PROSITE	PS00126. PDEASE_I. 1 hit. [Graphical view]
ProtoNet	Search...
Other
BindingDB	P35913.
ChEMBL	CHEMBL3659.
ChiTaRS	PDE6B. human.
GenomeRNAi	5158.
NextBio	19954.
SOURCE	Search...

Entry information

Entry name

PDE6B_HUMAN

Accession

Primary (citable) accession number: P35913
Secondary accession number(s): B7Z9T9 , E7ETT3, Q53XN5, Q9BWH5, Q9UD49

Entry history

Integrated into UniProtKB/Swiss-Prot:	June 1, 1994
Last sequence update:	April 14, 2009
Last modified:	May 1, 2013
This is version 138 of the entry and version 2 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any 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.