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Q9NQW8 (CNGB3_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 116. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Cyclic nucleotide-gated cation channel beta-3
Alternative name(s):
Cone photoreceptor cGMP-gated channel subunit beta
Cyclic nucleotide-gated cation channel modulatory subunit
Cyclic nucleotide-gated channel beta-3
Short name=CNG channel beta-3
Gene names
Name:CNGB3
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length809 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

Visual signal transduction is mediated by a G-protein coupled cascade using cGMP as second messenger. This protein can be activated by cGMP which leads to an opening of the cation channel and thereby causing a depolarization of rod photoreceptors. Induced a flickering channel gating, weakened the outward rectification in the presence of extracellular calcium, increased sensitivity for L-cis diltiazem and enhanced the cAMP efficiency of the channel when coexpressed with CNGA3 By similarity. Essential for the generation of light-evoked electrical responses in the red-, green- and blue sensitive cones. Ref.3

Subunit structure

Tetramer formed of three CNGA3 and one CNGB3 modulatory subunits. Ref.3 Ref.4

Subcellular location

Membrane; Multi-pass membrane protein.

Tissue specificity

Expressed specifically in the retina. Ref.1

Involvement in disease

Stargardt disease 1 (STGD1) [MIM:248200]: A common hereditary macular degeneration. It is characterized by decreased central vision, atrophy of the macula and underlying retinal pigment epithelium, and frequent presence of prominent flecks in the posterior pole of the retina.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.8

Achromatopsia 3 (ACHM3) [MIM:262300]: An ocular stationary disorder due to the absence of functioning cone photoreceptors in the retina. It is characterized by total colorblindness, low visual acuity, photophobia and nystagmus. Achromatopsia type 3 patients manifest severe myopia.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.1 Ref.3 Ref.5 Ref.6 Ref.7 Ref.8

Sequence similarities

Belongs to the cyclic nucleotide-gated cation channel (TC 1.A.1.5) family. CNGB3 subfamily. [View classification]

Contains 1 cyclic nucleotide-binding domain.

Sequence caution

The sequence AAF80179.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.

Ontologies

Keywords
   Biological processIon transport
Sensory transduction
Transport
Vision
   Cellular componentMembrane
   Coding sequence diversityAlternative splicing
Polymorphism
   DiseaseDisease mutation
Stargardt disease
   DomainTransmembrane
Transmembrane helix
   LigandcGMP
cGMP-binding
Nucleotide-binding
   Molecular functionIon channel
Ligand-gated ion channel
   PTMGlycoprotein
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processcation transport

Inferred from direct assay PubMed 24164424. Source: UniProt

phototransduction, visible light

Inferred from Biological aspect of Ancestor. Source: RefGenome

potassium ion transmembrane transport

Inferred from Biological aspect of Ancestor. Source: RefGenome

regulation of membrane potential

Inferred from Biological aspect of Ancestor. Source: RefGenome

signal transduction

Non-traceable author statement Ref.3. Source: ProtInc

transport

Non-traceable author statement Ref.3. Source: ProtInc

visual perception

Traceable author statement Ref.3. Source: ProtInc

   Cellular_componentintegral component of plasma membrane

Inferred from Biological aspect of Ancestor. Source: RefGenome

photoreceptor outer segment

Inferred from electronic annotation. Source: Ensembl

transmembrane transporter complex

Inferred from direct assay PubMed 24164424. Source: UniProt

   Molecular_functioncGMP binding

Inferred from direct assay PubMed 24164424. Source: UniProt

intracellular cAMP activated cation channel activity

Inferred from Biological aspect of Ancestor. Source: RefGenome

intracellular cGMP activated cation channel activity

Inferred from direct assay PubMed 24164424. Source: UniProt

voltage-gated potassium channel activity

Inferred from Biological aspect of Ancestor. Source: RefGenome

Complete GO annotation...

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q9NQW8-1)

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: Q9NQW8-2)

The sequence of this isoform differs from the canonical sequence as follows:
     590-594: Missing.
Note: No experimental confirmation available.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 809809Cyclic nucleotide-gated cation channel beta-3
PRO_0000219320

Regions

Topological domain1 – 216216Cytoplasmic Potential
Transmembrane217 – 23721Helical; Name=H1; Potential
Topological domain238 – 25013Extracellular Potential
Transmembrane251 – 27121Helical; Name=H2; Potential
Topological domain272 – 30231Cytoplasmic Potential
Transmembrane303 – 32321Helical; Name=H3; Potential
Topological domain324 – 35936Extracellular Potential
Transmembrane360 – 38021Helical; Name=H4; Potential
Topological domain381 – 41737Cytoplasmic Potential
Transmembrane418 – 43821Helical; Name=H5; Potential
Topological domain439 – 50466Extracellular Potential
Transmembrane505 – 52521Helical; Name=H6; Potential
Topological domain526 – 809284Cytoplasmic Potential
Nucleotide binding532 – 676145cGMP By similarity

Sites

Binding site5921cGMP By similarity
Binding site6041cGMP By similarity

Amino acid modifications

Glycosylation4681N-linked (GlcNAc...) Potential

Natural variations

Alternative sequence590 – 5945Missing in isoform 2.
VSP_009742
Natural variant251R → H. Ref.8
VAR_047606
Natural variant271N → S. Ref.8
Corresponds to variant rs35807406 [ dbSNP | Ensembl ].
VAR_047607
Natural variant1071G → R in ACHM3; unknown pathological significance. Ref.8
Corresponds to variant rs146688972 [ dbSNP | Ensembl ].
VAR_047608
Natural variant1481K → E in ACHM3. Ref.5
VAR_047609
Natural variant1561S → F in ACHM3. Ref.7
VAR_047610
Natural variant1991E → K in ACHM3; unknown pathological significance. Ref.8
Corresponds to variant rs114305748 [ dbSNP | Ensembl ].
VAR_047611
Natural variant2031R → Q in ACHM3; unknown pathological significance. Ref.8
Corresponds to variant rs16916632 [ dbSNP | Ensembl ].
VAR_025524
Natural variant2341C → W. Ref.1
Corresponds to variant rs6471482 [ dbSNP | Ensembl ].
VAR_018109
Natural variant2981T → P. Ref.1 Ref.8
Corresponds to variant rs4961206 [ dbSNP | Ensembl ].
VAR_018110
Natural variant3071I → V. Ref.6 Ref.8
Corresponds to variant rs13265557 [ dbSNP | Ensembl ].
VAR_024418
Natural variant3091P → L in ACHM3. Ref.7
VAR_047612
Natural variant4031R → Q in macular degeneration. Ref.8
Corresponds to variant rs147876778 [ dbSNP | Ensembl ].
VAR_047613
Natural variant4351S → F in ACHM3. Ref.1 Ref.3 Ref.7
VAR_018111
Natural variant4661M → T in ACHM3; unknown pathological significance. Ref.8
Corresponds to variant rs35010099 [ dbSNP | Ensembl ].
VAR_047614
Natural variant4691Y → D in STGD1. Ref.8
Corresponds to variant rs35365413 [ dbSNP | Ensembl ].
VAR_047615
Natural variant4941D → N in ACHM3; unknown pathological significance. Ref.8
VAR_047616
Natural variant5131D → Y in ACHM3; unknown pathological significance. Ref.8
VAR_047617
Natural variant5251F → N in ACHM3; requires 2 nucleotide substitutions. Ref.6
VAR_047618
Natural variant5581G → C in ACHM3. Ref.8
VAR_047619
Natural variant5951L → F in ACHM3. Ref.8
VAR_047620
Natural variant6721T → P in ACHM3; unknown pathological significance. Ref.8
VAR_047621
Natural variant720 – 7267Missing in ACHM3.
VAR_047622
Natural variant7501P → S.
Corresponds to variant rs3735971 [ dbSNP | Ensembl ].
VAR_025525
Natural variant7551E → G. Ref.1 Ref.8
Corresponds to variant rs3735972 [ dbSNP | Ensembl ].
VAR_018112

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified November 2, 2010. Version 2.
Checksum: D16EE71A6149BDB5

FASTA80992,167
        10         20         30         40         50         60 
MFKSLTKVNK VKPIGENNEN EQSSRRNEEG SHPSNQSQQT TAQEENKGEE KSLKTKSTPV 

        70         80         90        100        110        120 
TSEEPHTNIQ DKLSKKNSSG DLTTNPDPQN AAEPTGTVPE QKEMDPGKEG PNSPQNKPPA 

       130        140        150        160        170        180 
APVINEYADA QLHNLVKRMR QRTALYKKKL VEGDLSSPEA SPQTAKPTAV PPVKESDDKP 

       190        200        210        220        230        240 
TEHYYRLLWF KVKKMPLTEY LKRIKLPNSI DSYTDRLYLL WLLLVTLAYN WNCCFIPLRL 

       250        260        270        280        290        300 
VFPYQTADNI HYWLIADIIC DIIYLYDMLF IQPRLQFVRG GDIIVDSNEL RKHYRTSTKF 

       310        320        330        340        350        360 
QLDVASIIPF DICYLFFGFN PMFRANRMLK YTSFFEFNHH LESIMDKAYI YRVIRTTGYL 

       370        380        390        400        410        420 
LFILHINACV YYWASNYEGI GTTRWVYDGE GNEYLRCYYW AVRTLITIGG LPEPQTLFEI 

       430        440        450        460        470        480 
VFQLLNFFSG VFVFSSLIGQ MRDVIGAATA NQNYFRACMD DTIAYMNNYS IPKLVQKRVR 

       490        500        510        520        530        540 
TWYEYTWDSQ RMLDESDLLK TLPTTVQLAL AIDVNFSIIS KVDLFKGCDT QMIYDMLLRL 

       550        560        570        580        590        600 
KSVLYLPGDF VCKKGEIGKE MYIIKHGEVQ VLGGPDGTKV LVTLKAGSVF GEISLLAAGG 

       610        620        630        640        650        660 
GNRRTANVVA HGFANLLTLD KKTLQEILVH YPDSERILMK KARVLLKQKA KTAEATPPRK 

       670        680        690        700        710        720 
DLALLFPPKE ETPKLFKTLL GGTGKASLAR LLKLKREQAA QKKENSEGGE EEGKENEDKQ 

       730        740        750        760        770        780 
KENEDKQKEN EDKGKENEDK DKGREPEEKP LDRPECTASP IAVEEEPHSV RRTVLPRGTS 

       790        800 
RQSLIISMAP SAEGGEEVLT IEVKEKAKQ 

« Hide

Isoform 2 [UniParc].

Checksum: 803A5D65F2CEBDE2
Show »

FASTA80491,633

References

« Hide 'large scale' references
[1]"Mutations in the CNGB3 gene encoding the beta-subunit of the cone photoreceptor cGMP-gated channel are responsible for achromatopsia (ACHM3) linked to chromosome 8Q21."
Kohl S., Baumann B., Broghammer M., Jaegle H., Sieving P., Kellner U., Spegal R., Anastasi M., Zrenner E., Sharpe L.T., Wissinger B.
Hum. Mol. Genet. 9:2107-2116(2000) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), TISSUE SPECIFICITY, VARIANT ACHM3 PHE-435, VARIANTS TRP-234; PRO-298 AND GLY-755.
[2]"DNA sequence and analysis of human chromosome 8."
Nusbaum C., Mikkelsen T.S., Zody M.C., Asakawa S., Taudien S., Garber M., Kodira C.D., Schueler M.G., Shimizu A., Whittaker C.A., Chang J.L., Cuomo C.A., Dewar K., FitzGerald M.G., Yang X., Allen N.R., Anderson S., Asakawa T. expand/collapse author list , Blechschmidt K., Bloom T., Borowsky M.L., Butler J., Cook A., Corum B., DeArellano K., DeCaprio D., Dooley K.T., Dorris L. III, Engels R., Gloeckner G., Hafez N., Hagopian D.S., Hall J.L., Ishikawa S.K., Jaffe D.B., Kamat A., Kudoh J., Lehmann R., Lokitsang T., Macdonald P., Major J.E., Matthews C.D., Mauceli E., Menzel U., Mihalev A.H., Minoshima S., Murayama Y., Naylor J.W., Nicol R., Nguyen C., O'Leary S.B., O'Neill K., Parker S.C.J., Polley A., Raymond C.K., Reichwald K., Rodriguez J., Sasaki T., Schilhabel M., Siddiqui R., Smith C.L., Sneddon T.P., Talamas J.A., Tenzin P., Topham K., Venkataraman V., Wen G., Yamazaki S., Young S.K., Zeng Q., Zimmer A.R., Rosenthal A., Birren B.W., Platzer M., Shimizu N., Lander E.S.
Nature 439:331-335(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[3]"Genetic basis of total colourblindness among the Pingelapese islanders."
Sundin O.H., Yang J.-M., Li Y., Zhu D., Hurd J.N., Mitchell T.N., Silva E.D., Maumenee I.H.
Nat. Genet. 25:289-293(2000) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 114-809 (ISOFORM 2), FUNCTION, SUBUNIT, VARIANT ACHM3 PHE-435.
Tissue: Retina.
[4]"Molecular mechanism for 3:1 subunit stoichiometry of rod cyclic nucleotide-gated ion channels."
Shuart N.G., Haitin Y., Camp S.S., Black K.D., Zagotta W.N.
Nat. Commun. 2:457-457(2011) [PubMed] [Europe PMC] [Abstract]
Cited for: SUBUNIT.
[5]"A frameshift insertion in the cone cyclic nucleotide gated cation channel causes complete achromatopsia in a consanguineous family from a rural isolate."
Rojas C.V., Maria L.S., Santos J.L., Cortes F., Alliende M.A.
Eur. J. Hum. Genet. 10:638-642(2002) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT ACHM3 GLU-148.
[6]"Achromatopsia caused by novel mutations in both CNGA3 and CNGB3."
Johnson S., Michaelides M., Aligianis I.A., Ainsworth J.R., Mollon J.D., Maher E.R., Moore A.T., Hunt D.M.
J. Med. Genet. 41:E20-E20(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS ACHM3 VAL-307 AND ASN-525.
[7]"CNGB3 mutations account for 50% of all cases with autosomal recessive achromatopsia."
Kohl S., Varsanyi B., Antunes G.A., Baumann B., Hoyng C.B., Jaegle H., Rosenberg T., Kellner U., Lorenz B., Salati R., Jurklies B., Farkas A., Andreasson S., Weleber R.G., Jacobson S.G., Rudolph G., Castellan C., Dollfus H. expand/collapse author list , Legius E., Anastasi M., Bitoun P., Lev D., Sieving P.A., Munier F.L., Zrenner E., Sharpe L.T., Cremers F.P.M., Wissinger B.
Eur. J. Hum. Genet. 13:302-308(2005) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS ACHM3 PHE-156; LEU-309; PHE-435 AND 720-GLN--LYS-726 DEL.
[8]"Cone cGMP-gated channel mutations and clinical findings in patients with achromatopsia, macular degeneration, and other hereditary cone diseases."
Nishiguchi K.M., Sandberg M.A., Gorji N., Berson E.L., Dryja T.P.
Hum. Mutat. 25:248-258(2005) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT MACULAR DEGENERATION GLN-403, VARIANT STGD1 ASP-469, VARIANTS ACHM3 ARG-107; LYS-199; GLN-203; THR-466; ASN-494; TYR-513; CYS-558; PHE-595 AND PRO-672, VARIANTS HIS-25; SER-27; PRO-298; VAL-307 AND GLY-755.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AF272900 mRNA. Translation: AAF86274.1.
AC013751 Genomic DNA. No translation available.
AC090572 Genomic DNA. No translation available.
AF228520 mRNA. Translation: AAF80179.1. Different initiation.
CCDSCCDS6244.1. [Q9NQW8-1]
RefSeqNP_061971.3. NM_019098.4. [Q9NQW8-1]
UniGeneHs.154433.

3D structure databases

ProteinModelPortalQ9NQW8.
SMRQ9NQW8. Positions 465-636.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

STRING9606.ENSP00000316605.

PTM databases

PhosphoSiteQ9NQW8.

Polymorphism databases

DMDM311033366.

Proteomic databases

PaxDbQ9NQW8.
PRIDEQ9NQW8.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000320005; ENSP00000316605; ENSG00000170289. [Q9NQW8-1]
GeneID54714.
KEGGhsa:54714.
UCSCuc003ydx.3. human. [Q9NQW8-1]
uc010maj.3. human. [Q9NQW8-2]

Organism-specific databases

CTD54714.
GeneCardsGC08M087566.
GeneReviewsCNGB3.
H-InvDBHIX0034272.
HGNCHGNC:2153. CNGB3.
MIM248200. phenotype.
262300. phenotype.
605080. gene.
neXtProtNX_Q9NQW8.
Orphanet49382. Achromatopsia.
1871. Progressive cone dystrophy.
827. Stargardt disease.
PharmGKBPA26663.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG289446.
HOGENOMHOG000231425.
HOVERGENHBG051038.
InParanoidQ9NQW8.
KOK04953.
OMAKMPLTEY.
OrthoDBEOG744T8M.
PhylomeDBQ9NQW8.
TreeFamTF318250.

Gene expression databases

ArrayExpressQ9NQW8.
BgeeQ9NQW8.
CleanExHS_CNGB3.
GenevestigatorQ9NQW8.

Family and domain databases

Gene3D2.60.120.10. 1 hit.
InterProIPR018490. cNMP-bd-like.
IPR018488. cNMP-bd_CS.
IPR000595. cNMP-bd_dom.
IPR014710. RmlC-like_jellyroll.
[Graphical view]
PfamPF00027. cNMP_binding. 1 hit.
[Graphical view]
SMARTSM00100. cNMP. 1 hit.
[Graphical view]
SUPFAMSSF51206. SSF51206. 1 hit.
PROSITEPS00888. CNMP_BINDING_1. 1 hit.
PS00889. CNMP_BINDING_2. 1 hit.
PS50042. CNMP_BINDING_3. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GeneWikiCyclic_nucleotide_gated_channel_beta_3.
GenomeRNAi54714.
NextBio57273.
PROQ9NQW8.
SOURCESearch...

Entry information

Entry nameCNGB3_HUMAN
AccessionPrimary (citable) accession number: Q9NQW8
Secondary accession number(s): C9JA51, Q9NRE9
Entry history
Integrated into UniProtKB/Swiss-Prot: March 29, 2004
Last sequence update: November 2, 2010
Last modified: July 9, 2014
This is version 116 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 8

Human chromosome 8: entries, gene names and cross-references to MIM