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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, CNCG2, CNCG3L, CNCG4, RCNC2
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.2 Publications
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.2 Publications

Sites

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Binding sitei1030 – 10301cAMP Reviewed prediction
Binding sitei1042 – 10421cAMP Reviewed prediction

Regions

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Nucleotide bindingi970 – 1109140cAMP By similarity
Add
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. protein binding Source: IntAct
  7. 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 – 656314Cytoplasmic Reviewed prediction
Add
BLAST
Transmembranei657 – 67519Helical; Name=H1; Reviewed prediction
Add
BLAST
Topological domaini676 – 68914Extracellular Reviewed prediction
Add
BLAST
Transmembranei690 – 70819Helical; Name=H2; Reviewed prediction
Add
BLAST
Topological domaini709 – 73325Cytoplasmic Reviewed prediction
Add
BLAST
Transmembranei734 – 75320Helical; Name=H3; Reviewed prediction
Add
BLAST
Topological domaini754 – 79037Extracellular Reviewed prediction
Add
BLAST
Transmembranei791 – 81323Helical; Name=H4; Reviewed prediction
Add
BLAST
Topological domaini814 – 85744Cytoplasmic Reviewed prediction
Add
BLAST
Transmembranei858 – 87720Helical; Name=H5; Reviewed prediction
Add
BLAST
Topological domaini878 – 96184Extracellular Reviewed prediction
Add
BLAST
Transmembranei962 – 98221Helical; Name=H6; Reviewed prediction
Add
BLAST
Topological domaini983 – 1251269Cytoplasmic Reviewed prediction
Add
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.
Note: The disease is caused by mutations affecting the gene represented in this entry.1 Publication
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-1
PRO_0000219323Add
BLAST

Proteomic databases

PaxDbiQ14028.
PRIDEiQ14028.

PTM databases

PhosphoSiteiQ14028.

Expressioni

Gene expression databases

ArrayExpressiQ14028.
BgeeiQ14028.
CleanExiHS_CNGB1.
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 793-882, 893-1070.

Family & Domainsi

Motif

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

Compositional bias

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

Sequence similaritiesi

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiNOG289446.
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

MLGWVQRVLP QPPGTPRKTK MQEEEEVEPE PEMEAEVEPE PNPEEAETES     50
ESMPPEESFK EEEVAVADPS PQETKEAALT STISLRAQGA EISEMNSPSR 100
RVLTWLMKGV EKVIPQPVHS ITEDPAQILG HGSTGDTGCT DEPNEALEAQ 150
DTRPGLRLLL WLEQNLERVL PQPPKSSEVW RDEPAVATGA ASDPAPPGRP 200
QEMGPKLQAR ETPSLPTPIP LQPKEEPKEA PAPEPQPGSQ AQTSSLPPTR 250
DPARLVAWVL HRLEMALPQP VLHGKIGEQE PDSPGICDVQ TISILPGGQV 300
EPDLVLEEVE PPWEDAHQDV STSPQGTEVV PAYEEENKAV EKMPRELSRI 350
EEEKEDEEEE EEEEEEEEEE EVTEVLLDSC VVSQVGVGQS EEDGTRPQST 400
SDQKLWEEVG EEAKKEAEEK AKEEAEEVAE EEAEKEPQDW AETKEEPEAE 450
AEAASSGVPA TKQHPEVQVE DTDADSCPLM AEENPPSTVL PPPSPAKSDT 500
LIVPSSASGT HRKKLPSEDD EAEELKALSP AESPVVAWSD PTTPKDTDGQ 550
DRAASTASTN SAIINDRLQE LVKLFKERTE KVKEKLIDPD VTSDEESPKP 600
SPAKKAPEPA PDTKPAEAEP VEEEHYCDML CCKFKHRPWK KYQFPQSIDP 650
LTNLMYVLWL FFVVMAWNWN CWLIPVRWAF PYQTPDNIHH WLLMDYLCDL 700
IYFLDITVFQ TRLQFVRGGD IITDKKDMRN NYLKSRRFKM DLLSLLPLDF 750
LYLKVGVNPL LRLPRCLKYM AFFEFNSRLE SILSKAYVYR VIRTTAYLLY 800
SLHLNSCLYY WASAYQGLGS THWVYDGVGN SYIRCYYFAV KTLITIGGLP 850
DPKTLFEIVF QLLNYFTGVF AFSVMIGQMR DVVGAATAGQ TYYRSCMDST 900
VKYMNFYKIP KSVQNRVKTW YEYTWHSQGM LDESELMVQL PDKMRLDLAI 950
DVNYNIVSKV ALFQGCDRQM IFDMLKRLRS VVYLPNDYVC KKGEIGREMY 1000
IIQAGQVQVL GGPDGKSVLV TLKAGSVFGE ISLLAVGGGN RRTANVVAHG 1050
FTNLFILDKK DLNEILVHYP ESQKLLRKKA RRMLRSNNKP KEEKSVLILP 1100
PRAGTPKLFN AALAMTGKMG GKGAKGGKLA HLRARLKELA ALEAAAKQQE 1150
LVEQAKSSQD VKGEEGSAAP DQHTHPKEAA TDPPAPRTPP EPPGSPPSSP 1200
PPASLGRPEG EEEGPAEPEE HSVRICMSPG PEPGEQILSV KMPEEREEKA 1250
E 1251
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

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.
VSP_001110Add
BLAST
Alternative sequencei189 – 1946Missing in isoform 4.
VSP_053421
Alternative sequencei292 – 2998ISILPGGQ → RVMGAGGL in isoform GARP2.
VSP_037921
Alternative sequencei300 – 1251952Missing in isoform GARP2.
VSP_037922Add
BLAST

Sequence conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti128 – 1281I → V in AC010543. 1 Publication
Sequence conflicti1148 – 11492QQ → HE in AAB63387. 1 Publication
Sequence conflicti1148 – 11492QQ → HE in AAA65619. 1 Publication
Sequence conflicti1148 – 11492QQ → HE in AAA65620. 1 Publication
Sequence conflicti1207 – 12082RP → SC in AAB63387. 1 Publication
Sequence conflicti1207 – 12082RP → SC in AAA65619. 1 Publication
Sequence conflicti1207 – 12082RP → SC in AAA65620. 1 Publication

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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:
EMBL
GenBank
DDBJ
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 793-882, 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 GC16M058001.
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.
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

ArrayExpressi Q14028.
Bgeei Q14028.
CleanExi HS_CNGB1.
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: September 3, 2014
This is version 130 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

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