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Q14028

- CNGB1_HUMAN

UniProt

Q14028 - CNGB1_HUMAN

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Protein

Cyclic nucleotide-gated cation channel beta-1

Gene

CNGB1

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

Functioni

Subunit of cyclic nucleotide-gated (CNG) channels, nonselective cation channels, which play important roles in both visual and olfactory signal transduction. When associated with CNGA1, it is involved in the regulation of ion flow into the rod photoreceptor outer segment (ROS), in response to light-induced alteration of the levels of intracellular cGMP.
Isoform GARP2 is a high affinity rod photoreceptor phosphodiesterase (PDE6)-binding protein that modulates its catalytic properties: it is a regulator of spontaneous activation of rod PDE6, thereby serving to lower rod photoreceptor 'dark noise' and allowing these sensory cells to operate at the single photon detection limit.

Sites

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Binding sitei1030 – 10301cAMPSequence Analysis
Binding sitei1042 – 10421cAMPSequence Analysis

Regions

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Nucleotide bindingi970 – 1109140cAMPBy similarityAdd
BLAST

GO - Molecular functioni

  1. cAMP binding Source: UniProtKB-KW
  2. cGMP binding Source: UniProt
  3. intracellular cAMP activated cation channel activity Source: Ensembl
  4. intracellular cGMP activated cation channel activity Source: UniProt
  5. ligand-gated ion channel activity Source: ProtInc
  6. voltage-gated potassium channel activity Source: RefGenome

GO - Biological processi

  1. cation transport Source: UniProt
  2. cytosolic calcium ion homeostasis Source: Ensembl
  3. detection of light stimulus involved in visual perception Source: UniProt
  4. phototransduction, visible light Source: Reactome
  5. potassium ion transmembrane transport Source: RefGenome
  6. protein heterotetramerization Source: Ensembl
  7. regulation of membrane potential Source: RefGenome
  8. regulation of rhodopsin mediated signaling pathway Source: Reactome
  9. retina homeostasis Source: UniProt
  10. rhodopsin mediated signaling pathway Source: Reactome
  11. sensory perception of smell Source: UniProtKB-KW
  12. transport Source: ProtInc
  13. visual perception Source: ProtInc
Complete GO annotation...

Keywords - Molecular functioni

Ion channel, Ligand-gated ion channel

Keywords - Biological processi

Ion transport, Olfaction, Sensory transduction, Transport, Vision

Keywords - Ligandi

cAMP, cAMP-binding, Nucleotide-binding

Enzyme and pathway databases

ReactomeiREACT_163919. Inactivation, recovery and regulation of the phototransduction cascade.
REACT_163932. Activation of the phototransduction cascade.

Protein family/group databases

TCDBi1.A.1.5.3. the voltage-gated ion channel (vic) superfamily.

Names & Taxonomyi

Protein namesi
Recommended name:
Cyclic nucleotide-gated cation channel beta-1
Alternative name(s):
Cyclic nucleotide-gated cation channel 4
Short name:
CNG channel 4
Short name:
CNG-4
Short name:
CNG4
Cyclic nucleotide-gated cation channel gamma
Cyclic nucleotide-gated cation channel modulatory subunit
Cyclic nucleotide-gated channel beta-1
Short name:
CNG channel beta-1
Glutamic acid-rich protein
Short name:
GARP
Gene namesi
Name:CNGB1
Synonyms:CNCG2, CNCG3L, CNCG4, RCNC2
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 16

Organism-specific databases

HGNCiHGNC:2151. CNGB1.

Subcellular locationi

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini343 – 656314CytoplasmicSequence AnalysisAdd
BLAST
Transmembranei657 – 67519Helical; Name=H1Sequence AnalysisAdd
BLAST
Topological domaini676 – 68914ExtracellularSequence AnalysisAdd
BLAST
Transmembranei690 – 70819Helical; Name=H2Sequence AnalysisAdd
BLAST
Topological domaini709 – 73325CytoplasmicSequence AnalysisAdd
BLAST
Transmembranei734 – 75320Helical; Name=H3Sequence AnalysisAdd
BLAST
Topological domaini754 – 79037ExtracellularSequence AnalysisAdd
BLAST
Transmembranei791 – 81323Helical; Name=H4Sequence AnalysisAdd
BLAST
Topological domaini814 – 85744CytoplasmicSequence AnalysisAdd
BLAST
Transmembranei858 – 87720Helical; Name=H5Sequence AnalysisAdd
BLAST
Topological domaini878 – 96184ExtracellularSequence AnalysisAdd
BLAST
Transmembranei962 – 98221Helical; Name=H6Sequence AnalysisAdd
BLAST
Topological domaini983 – 1251269CytoplasmicSequence AnalysisAdd
BLAST

GO - Cellular componenti

  1. integral component of plasma membrane Source: RefGenome
  2. intracellular cyclic nucleotide activated cation channel complex Source: Ensembl
  3. plasma membrane Source: Reactome
  4. terminal bouton Source: Ensembl
  5. transmembrane transporter complex Source: UniProt
Complete GO annotation...

Keywords - Cellular componenti

Membrane

Pathology & Biotechi

Involvement in diseasei

Retinitis pigmentosa 45 (RP45) [MIM:613767]: 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.1 Publication
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti993 – 9931G → V in RP45. 1 Publication
VAR_060491

Mutagenesis

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Mutagenesisi568 – 5681L → E: Loss of calcium/calmodulin modulation. 1 Publication

Keywords - Diseasei

Disease mutation, Retinitis pigmentosa

Organism-specific databases

MIMi613767. phenotype.
Orphaneti791. Retinitis pigmentosa.
PharmGKBiPA26662.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 12511251Cyclic nucleotide-gated cation channel beta-1PRO_0000219323Add
BLAST

Proteomic databases

PaxDbiQ14028.
PRIDEiQ14028.

PTM databases

PhosphoSiteiQ14028.

Expressioni

Gene expression databases

BgeeiQ14028.
CleanExiHS_CNGB1.
ExpressionAtlasiQ14028. baseline.
GenevestigatoriQ14028.

Organism-specific databases

HPAiHPA039159.

Interactioni

Subunit structurei

Tetramer formed of three CNGA1 and one CNGB1 modulatory subunits.By similarity

Binary interactionsi

WithEntry#Exp.IntActNotes
GRB14Q5ICW42EBI-7959609,EBI-7639273From a different organism.

Protein-protein interaction databases

BioGridi107658. 3 interactions.
IntActiQ14028. 2 interactions.
MINTiMINT-4853474.
STRINGi9606.ENSP00000251102.

Structurei

3D structure databases

ProteinModelPortaliQ14028.
SMRiQ14028. Positions 793-891, 893-1070.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Motif

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Motifi568 – 57811IQ-likeAdd
BLAST

Compositional bias

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Compositional biasi23 – 6341Glu-richAdd
BLAST
Compositional biasi171 – 25282Pro-richAdd
BLAST
Compositional biasi351 – 37121Poly-GluAdd
BLAST

Sequence similaritiesi

Contains 1 cyclic nucleotide-binding domain.PROSITE-ProRule annotation

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiNOG289446.
GeneTreeiENSGT00760000118772.
HOGENOMiHOG000231425.
HOVERGENiHBG051038.
InParanoidiQ14028.
KOiK04952.
OMAiDTDADSC.
PhylomeDBiQ14028.
TreeFamiTF318250.

Family and domain databases

Gene3Di2.60.120.10. 1 hit.
InterProiIPR018490. cNMP-bd-like.
IPR018488. cNMP-bd_CS.
IPR000595. cNMP-bd_dom.
IPR014710. RmlC-like_jellyroll.
[Graphical view]
PfamiPF00027. cNMP_binding. 1 hit.
[Graphical view]
SMARTiSM00100. cNMP. 1 hit.
[Graphical view]
SUPFAMiSSF51206. SSF51206. 1 hit.
PROSITEiPS00888. CNMP_BINDING_1. 1 hit.
PS00889. CNMP_BINDING_2. 1 hit.
PS50042. CNMP_BINDING_3. 1 hit.
[Graphical view]

Sequences (4)i

Sequence statusi: Complete.

This entry describes 4 isoformsi produced by alternative splicing. Align

Note: There is no evidence for an ortholog to bovine GARP1 in the human genome.

Isoform RCNC2B (identifier: Q14028-1) [UniParc]FASTAAdd to Basket

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

« Hide

        10         20         30         40         50
MLGWVQRVLP QPPGTPRKTK MQEEEEVEPE PEMEAEVEPE PNPEEAETES
60 70 80 90 100
ESMPPEESFK EEEVAVADPS PQETKEAALT STISLRAQGA EISEMNSPSR
110 120 130 140 150
RVLTWLMKGV EKVIPQPVHS ITEDPAQILG HGSTGDTGCT DEPNEALEAQ
160 170 180 190 200
DTRPGLRLLL WLEQNLERVL PQPPKSSEVW RDEPAVATGA ASDPAPPGRP
210 220 230 240 250
QEMGPKLQAR ETPSLPTPIP LQPKEEPKEA PAPEPQPGSQ AQTSSLPPTR
260 270 280 290 300
DPARLVAWVL HRLEMALPQP VLHGKIGEQE PDSPGICDVQ TISILPGGQV
310 320 330 340 350
EPDLVLEEVE PPWEDAHQDV STSPQGTEVV PAYEEENKAV EKMPRELSRI
360 370 380 390 400
EEEKEDEEEE EEEEEEEEEE EVTEVLLDSC VVSQVGVGQS EEDGTRPQST
410 420 430 440 450
SDQKLWEEVG EEAKKEAEEK AKEEAEEVAE EEAEKEPQDW AETKEEPEAE
460 470 480 490 500
AEAASSGVPA TKQHPEVQVE DTDADSCPLM AEENPPSTVL PPPSPAKSDT
510 520 530 540 550
LIVPSSASGT HRKKLPSEDD EAEELKALSP AESPVVAWSD PTTPKDTDGQ
560 570 580 590 600
DRAASTASTN SAIINDRLQE LVKLFKERTE KVKEKLIDPD VTSDEESPKP
610 620 630 640 650
SPAKKAPEPA PDTKPAEAEP VEEEHYCDML CCKFKHRPWK KYQFPQSIDP
660 670 680 690 700
LTNLMYVLWL FFVVMAWNWN CWLIPVRWAF PYQTPDNIHH WLLMDYLCDL
710 720 730 740 750
IYFLDITVFQ TRLQFVRGGD IITDKKDMRN NYLKSRRFKM DLLSLLPLDF
760 770 780 790 800
LYLKVGVNPL LRLPRCLKYM AFFEFNSRLE SILSKAYVYR VIRTTAYLLY
810 820 830 840 850
SLHLNSCLYY WASAYQGLGS THWVYDGVGN SYIRCYYFAV KTLITIGGLP
860 870 880 890 900
DPKTLFEIVF QLLNYFTGVF AFSVMIGQMR DVVGAATAGQ TYYRSCMDST
910 920 930 940 950
VKYMNFYKIP KSVQNRVKTW YEYTWHSQGM LDESELMVQL PDKMRLDLAI
960 970 980 990 1000
DVNYNIVSKV ALFQGCDRQM IFDMLKRLRS VVYLPNDYVC KKGEIGREMY
1010 1020 1030 1040 1050
IIQAGQVQVL GGPDGKSVLV TLKAGSVFGE ISLLAVGGGN RRTANVVAHG
1060 1070 1080 1090 1100
FTNLFILDKK DLNEILVHYP ESQKLLRKKA RRMLRSNNKP KEEKSVLILP
1110 1120 1130 1140 1150
PRAGTPKLFN AALAMTGKMG GKGAKGGKLA HLRARLKELA ALEAAAKQQE
1160 1170 1180 1190 1200
LVEQAKSSQD VKGEEGSAAP DQHTHPKEAA TDPPAPRTPP EPPGSPPSSP
1210 1220 1230 1240 1250
PPASLGRPEG EEEGPAEPEE HSVRICMSPG PEPGEQILSV KMPEEREEKA

E
Length:1,251
Mass (Da):139,678
Last modified:September 1, 2009 - v2
Checksum:i7A45CB399EB2B20C
GO
Isoform RCNC2A (identifier: Q14028-2) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-628: Missing.

Show »
Length:623
Mass (Da):70,901
Checksum:i19FD335A37A9BD8A
GO
Isoform GARP2 (identifier: Q14028-3) [UniParc]FASTAAdd to Basket

Also known as: GARP

The sequence of this isoform differs from the canonical sequence as follows:
     292-299: ISILPGGQ → RVMGAGGL
     300-1251: Missing.

Note: In the rod cells, the CNGB1 locus encodes the cyclic nucleotide-gated cation channel beta-1 subunit and several glutamic-acid-rich proteins (GARPs).

Show »
Length:299
Mass (Da):32,531
Checksum:i1B07296CA8ECB655
GO
Isoform 4 (identifier: Q14028-4) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     189-194: Missing.

Show »
Length:1,245
Mass (Da):139,179
Checksum:iE99F22376984493D
GO

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti128 – 1281I → V in AC010543. (PubMed:15616553)Curated
Sequence conflicti1148 – 11492QQ → HE in AAB63387. (PubMed:7590744)Curated
Sequence conflicti1148 – 11492QQ → HE in AAA65619. (PubMed:7682292)Curated
Sequence conflicti1148 – 11492QQ → HE in AAA65620. (PubMed:7682292)Curated
Sequence conflicti1207 – 12082RP → SC in AAB63387. (PubMed:7590744)Curated
Sequence conflicti1207 – 12082RP → SC in AAA65619. (PubMed:7682292)Curated
Sequence conflicti1207 – 12082RP → SC in AAA65620. (PubMed:7682292)Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti100 – 1001R → H.3 Publications
Corresponds to variant rs13336595 [ dbSNP | Ensembl ].
VAR_058691
Natural varianti479 – 4791L → I.
Corresponds to variant rs2303783 [ dbSNP | Ensembl ].
VAR_059225
Natural varianti535 – 5351V → A.
Corresponds to variant rs12927214 [ dbSNP | Ensembl ].
VAR_059226
Natural varianti731 – 7311N → K.
Corresponds to variant rs376270 [ dbSNP | Ensembl ].
VAR_059227
Natural varianti745 – 7451L → I.
Corresponds to variant rs10459809 [ dbSNP | Ensembl ].
VAR_059228
Natural varianti911 – 9111K → R.
Corresponds to variant rs2303785 [ dbSNP | Ensembl ].
VAR_059229
Natural varianti961 – 9611A → S.
Corresponds to variant rs16942445 [ dbSNP | Ensembl ].
VAR_059230
Natural varianti993 – 9931G → V in RP45. 1 Publication
VAR_060491

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 628628Missing in isoform RCNC2A. CuratedVSP_001110Add
BLAST
Alternative sequencei189 – 1946Missing in isoform 4. CuratedVSP_053421
Alternative sequencei292 – 2998ISILPGGQ → RVMGAGGL in isoform GARP2. 1 PublicationVSP_037921
Alternative sequencei300 – 1251952Missing in isoform GARP2. 1 PublicationVSP_037922Add
BLAST

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
L15296 Genomic DNA. Translation: AAA65620.1.
L15297 Genomic DNA. Translation: AAA65619.1.
U18945 mRNA. Translation: AAA91633.1.
U58837 mRNA. Translation: AAB63387.1.
AF042498 mRNA. Translation: AAC04830.1.
AC010543 Genomic DNA. No translation available.
CH471092 Genomic DNA. Translation: EAW82957.1.
CCDSiCCDS42169.1. [Q14028-1]
CCDS45495.1. [Q14028-3]
CCDS67042.1. [Q14028-4]
PIRiA57652.
S32538.
S69275.
RefSeqiNP_001129111.1. NM_001135639.1. [Q14028-3]
NP_001273059.1. NM_001286130.1. [Q14028-4]
NP_001288.3. NM_001297.4. [Q14028-1]
XP_006721197.1. XM_006721134.1. [Q14028-1]
UniGeneiHs.147062.

Genome annotation databases

EnsembliENST00000251102; ENSP00000251102; ENSG00000070729. [Q14028-1]
ENST00000311183; ENSP00000311670; ENSG00000070729. [Q14028-3]
ENST00000564448; ENSP00000454633; ENSG00000070729. [Q14028-4]
GeneIDi1258.
KEGGihsa:1258.
UCSCiuc002emt.2. human. [Q14028-1]
uc002emu.2. human. [Q14028-3]
uc010cdh.2. human.

Polymorphism databases

DMDMi257051004.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
L15296 Genomic DNA. Translation: AAA65620.1 .
L15297 Genomic DNA. Translation: AAA65619.1 .
U18945 mRNA. Translation: AAA91633.1 .
U58837 mRNA. Translation: AAB63387.1 .
AF042498 mRNA. Translation: AAC04830.1 .
AC010543 Genomic DNA. No translation available.
CH471092 Genomic DNA. Translation: EAW82957.1 .
CCDSi CCDS42169.1. [Q14028-1 ]
CCDS45495.1. [Q14028-3 ]
CCDS67042.1. [Q14028-4 ]
PIRi A57652.
S32538.
S69275.
RefSeqi NP_001129111.1. NM_001135639.1. [Q14028-3 ]
NP_001273059.1. NM_001286130.1. [Q14028-4 ]
NP_001288.3. NM_001297.4. [Q14028-1 ]
XP_006721197.1. XM_006721134.1. [Q14028-1 ]
UniGenei Hs.147062.

3D structure databases

ProteinModelPortali Q14028.
SMRi Q14028. Positions 793-891, 893-1070.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 107658. 3 interactions.
IntActi Q14028. 2 interactions.
MINTi MINT-4853474.
STRINGi 9606.ENSP00000251102.

Protein family/group databases

TCDBi 1.A.1.5.3. the voltage-gated ion channel (vic) superfamily.

PTM databases

PhosphoSitei Q14028.

Polymorphism databases

DMDMi 257051004.

Proteomic databases

PaxDbi Q14028.
PRIDEi Q14028.

Protocols and materials databases

DNASUi 1258.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000251102 ; ENSP00000251102 ; ENSG00000070729 . [Q14028-1 ]
ENST00000311183 ; ENSP00000311670 ; ENSG00000070729 . [Q14028-3 ]
ENST00000564448 ; ENSP00000454633 ; ENSG00000070729 . [Q14028-4 ]
GeneIDi 1258.
KEGGi hsa:1258.
UCSCi uc002emt.2. human. [Q14028-1 ]
uc002emu.2. human. [Q14028-3 ]
uc010cdh.2. human.

Organism-specific databases

CTDi 1258.
GeneCardsi GC16M057916.
GeneReviewsi CNGB1.
H-InvDB HIX0038536.
HGNCi HGNC:2151. CNGB1.
HPAi HPA039159.
MIMi 600724. gene.
613767. phenotype.
neXtProti NX_Q14028.
Orphaneti 791. Retinitis pigmentosa.
PharmGKBi PA26662.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG289446.
GeneTreei ENSGT00760000118772.
HOGENOMi HOG000231425.
HOVERGENi HBG051038.
InParanoidi Q14028.
KOi K04952.
OMAi DTDADSC.
PhylomeDBi Q14028.
TreeFami TF318250.

Enzyme and pathway databases

Reactomei REACT_163919. Inactivation, recovery and regulation of the phototransduction cascade.
REACT_163932. Activation of the phototransduction cascade.

Miscellaneous databases

GeneWikii CNGB1.
GenomeRNAii 1258.
NextBioi 35525694.
PROi Q14028.
SOURCEi Search...

Gene expression databases

Bgeei Q14028.
CleanExi HS_CNGB1.
ExpressionAtlasi Q14028. baseline.
Genevestigatori Q14028.

Family and domain databases

Gene3Di 2.60.120.10. 1 hit.
InterProi IPR018490. cNMP-bd-like.
IPR018488. cNMP-bd_CS.
IPR000595. cNMP-bd_dom.
IPR014710. RmlC-like_jellyroll.
[Graphical view ]
Pfami PF00027. cNMP_binding. 1 hit.
[Graphical view ]
SMARTi SM00100. cNMP. 1 hit.
[Graphical view ]
SUPFAMi SSF51206. SSF51206. 1 hit.
PROSITEi PS00888. CNMP_BINDING_1. 1 hit.
PS00889. CNMP_BINDING_2. 1 hit.
PS50042. CNMP_BINDING_3. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "A new subunit of the cyclic nucleotide-gated cation channel in retinal rods."
    Chen T.-Y., Peng Y.-W., Dhallan R.S., Ahamed B., Reed R.R., Yau K.-W.
    Nature 362:764-767(1993) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] (ISOFORMS RCNC2A AND RCNC2B).
    Tissue: Retina.
  2. "cDNA, gene structure, and chromosomal localization of human GAR1 (CNCG3L), a homolog of the third subunit of bovine photoreceptor cGMP-gated channel."
    Ardell M.D., Makhija A.K., Oliveira L., Miniou P., Viegas-Pequignot E., Pittler S.J.
    Genomics 28:32-38(1995) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM GARP2), VARIANT HIS-100.
    Tissue: Retina.
  3. "The beta subunit of human rod photoreceptor cGMP-gated cation channel is generated from a complex transcription unit."
    Ardell M.D., Aragon I., Oliveira L., Porche G.E., Burke E., Pittler S.J.
    FEBS Lett. 389:213-218(1996) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM RCNC2B), VARIANT HIS-100.
    Tissue: Retina.
  4. "Identification of a domain on the beta-subunit of the rod cGMP-gated cation channel that mediates inhibition by calcium-calmodulin."
    Grunwald M.E., Yu W.P., Yu H.H., Yau K.W.
    J. Biol. Chem. 273:9148-9157(1998) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM RCNC2B), FUNCTION, VARIANT HIS-100.
    Tissue: Retina.
  5. "The sequence and analysis of duplication-rich human chromosome 16."
    Martin J., Han C., Gordon L.A., Terry A., Prabhakar S., She X., Xie G., Hellsten U., Chan Y.M., Altherr M., Couronne O., Aerts A., Bajorek E., Black S., Blumer H., Branscomb E., Brown N.C., Bruno W.J.
    , Buckingham J.M., Callen D.F., Campbell C.S., Campbell M.L., Campbell E.W., Caoile C., Challacombe J.F., Chasteen L.A., Chertkov O., Chi H.C., Christensen M., Clark L.M., Cohn J.D., Denys M., Detter J.C., Dickson M., Dimitrijevic-Bussod M., Escobar J., Fawcett J.J., Flowers D., Fotopulos D., Glavina T., Gomez M., Gonzales E., Goodstein D., Goodwin L.A., Grady D.L., Grigoriev I., Groza M., Hammon N., Hawkins T., Haydu L., Hildebrand C.E., Huang W., Israni S., Jett J., Jewett P.B., Kadner K., Kimball H., Kobayashi A., Krawczyk M.-C., Leyba T., Longmire J.L., Lopez F., Lou Y., Lowry S., Ludeman T., Manohar C.F., Mark G.A., McMurray K.L., Meincke L.J., Morgan J., Moyzis R.K., Mundt M.O., Munk A.C., Nandkeshwar R.D., Pitluck S., Pollard M., Predki P., Parson-Quintana B., Ramirez L., Rash S., Retterer J., Ricke D.O., Robinson D.L., Rodriguez A., Salamov A., Saunders E.H., Scott D., Shough T., Stallings R.L., Stalvey M., Sutherland R.D., Tapia R., Tesmer J.G., Thayer N., Thompson L.S., Tice H., Torney D.C., Tran-Gyamfi M., Tsai M., Ulanovsky L.E., Ustaszewska A., Vo N., White P.S., Williams A.L., Wills P.L., Wu J.-R., Wu K., Yang J., DeJong P., Bruce D., Doggett N.A., Deaven L., Schmutz J., Grimwood J., Richardson P., Rokhsar D.S., Eichler E.E., Gilna P., Lucas S.M., Myers R.M., Rubin E.M., Pennacchio L.A.
    Nature 432:988-994(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  6. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  7. "Genomic organization of the human rod photoreceptor cGMP-gated cation channel beta-subunit gene."
    Ardell M.D., Bedsole D.L., Schoborg R.V., Pittler S.J.
    Gene 245:311-318(2000) [PubMed] [Europe PMC] [Abstract]
    Cited for: ALTERNATIVE SPLICING.
  8. "Calmodulin permanently associates with rat olfactory CNG channels under native conditions."
    Bradley J., Boenigk W., Yau K.-W., Frings S.
    Nat. Neurosci. 7:705-710(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: MUTAGENESIS OF LEU-568.
  9. "The glutamic acid-rich protein-2 (GARP2) is a high affinity rod photoreceptor phosphodiesterase (PDE6)-binding protein that modulates its catalytic properties."
    Pentia D.C., Hosier S., Cote R.H.
    J. Biol. Chem. 281:5500-5505(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: ALTERNATIVE SPLICING (ISOFORM GARP2), FUNCTION.
  10. Cited for: CHARACTERIZATION OF THE GARPS PROTEINS.
  11. Cote R.H.
    Unpublished observations (MAY-2009)
    Cited for: ALTERNATIVE SPLICING (ISOFORM GARP2).
  12. "Segregation of a mutation in CNGB1 encoding the beta-subunit of the rod cGMP-gated channel in a family with autosomal recessive retinitis pigmentosa."
    Bareil C., Hamel C.P., Delague V., Arnaud B., Demaille J., Claustres M.
    Hum. Genet. 108:328-334(2001) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT RP45 VAL-993.

Entry informationi

Entry nameiCNGB1_HUMAN
AccessioniPrimary (citable) accession number: Q14028
Secondary accession number(s): H3BN09
, O43636, Q13059, Q14029, Q9UMG2
Entry historyi
Integrated into UniProtKB/Swiss-Prot: November 1, 1997
Last sequence update: September 1, 2009
Last modified: November 26, 2014
This is version 133 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 16
    Human chromosome 16: 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