CNGB1 cyclic nucleotide gated channel beta 1 [Homo sapiens (human)] - Gene

Summary

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Official Symbol: CNGB1provided by HGNC
Official Full Name: cyclic nucleotide gated channel beta 1provided by HGNC
Primary source: HGNC:2151
See related: Ensembl:ENSG00000070729; HPRD:07204; MIM:600724; Vega:OTTHUMG00000154810
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: CNG4; GAR1; GARP; RP45; CNCG2; CNCG4; RCNC2; RCNCb; CNCG3L; CNGB1B; RCNCbeta
Summary: In humans, the rod photoreceptor cGMP-gated cation channel helps regulate ion flow into the rod photoreceptor outer segment in response to light-induced alteration of the levels of intracellular cGMP. This channel consists of two subunits, alpha and beta, with the protein encoded by this gene representing the beta subunit. Defects in this gene are a cause of cause of retinitis pigmentosa type 45. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2010]

Genomic context

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Location :: 16q13

Sequence :: Chromosome: 16; NC_000016.9 (57916244..58005020, complement)

See CNGB1 in Epigenomics, MapViewer

Chromosome 16 - NC_000016.9 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Go to reference sequence details

Bibliography

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GeneRIFs: Gene References Into Functions What's a GeneRIF?

Deletion of the cyclic nucleotide gated channel CNGB1 alters response waveform but leaves light adaptation intact in a transgenic model.
Title: Channel modulation and the mechanism of light adaptation in mouse rods.
Observational study of genetic testing. (HuGE Navigator)
Title: Simultaneous mutation detection in 90 retinal disease genes in multiple patients using a custom-designed 300-kb retinal resequencing chip.
When expressed in a heterologous expression system the corresponding mutant full-length CNGB1a subunit was more susceptible to proteosomal degradation compared to the wild-type counterpart
Title: The retinitis pigmentosa mutation c.3444+1G>A in CNGB1 results in skipping of exon 32.
Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
Title: Human variation in alcohol response is influenced by variation in neuronal signaling genes.
we report targeting of cyclic nucleotide-gated channel(CNG) to rod outer segment required interaction with ankyrin-G; ankyrin-G localized to rod outer segments, coimmunoprecipitated with CNG channel & bound to C-terminal domain of channel beta1 subunit
Title: Ankyrin-G promotes cyclic nucleotide-gated channel transport to rod photoreceptor sensory cilia.

Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Retinitis pigmentosa (RP) is a group of inherited disorders in which abnormalities of the photoreceptors (rods and cones) or the retinal pigment epithelium (RPE) of the retina lead to progressive visual loss. Affected individuals first experience defective dark adaptation or "night blindness," followed by constriction of peripheral visual fields and, eventually, loss of central vision late in the course of the disease.

Diagnosis Testing

The diagnosis of RP relies on documentation of progressive loss in photoreceptor function by electroretinography (ERG) and visual field testing. Mutations in more than 50 different genes or loci are known to cause nonsyndromic RP. Molecular genetic testing is available on a clinical basis for many RP- related genes. For all other genes, molecular genetic testing is available on a research basis only.

Genetic Counseling

The mode of inheritance of RP is determined by family history and, in some instances, by molecular genetic testing. RP can be inherited in an autosomal dominant, autosomal recessive, or X-linked manner. Females with an X-linked RP mutation may be unaffected or may show clinical symptoms. Such affected females are usually (but not always) less severely affected than males of the same age. Some digenic and mitochondrial forms have also been described. Genetic counseling depends on an accurate diagnosis, determination of the mode of inheritance in each family, and results of molecular genetic testing.

References

PMID: 20301590

Interactions

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Products	Interactant	Other Gene	Source	Pubs	Description
Q14028	P78363	ABCA4	HPRD	PubMed
Q14028	Q9H307	PNN	HPRD	PubMed
Q14028	P23942	PRPH2	HPRD	PubMed
BioGRID:107658	BioGRID:106542	ABCA4	BioGRID	PubMed	Affinity Capture-Western
BioGRID:107658	BioGRID:199230	Dlg4	BioGRID	PubMed	Protein-peptide
BioGRID:107658	BioGRID:115544	SRRM1	BioGRID	PubMed	Affinity Capture-MS

Pathways from BioSystems

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Olfactory transduction, organism-specific biosystem (from KEGG)
Olfactory transduction, organism-specific biosystemWithin the compact cilia of the olfactory receptor neurons (ORNs) a cascade of enzymatic activity transduces the binding of an odorant molecule to a receptor into an electrical signal that can be tra...
Olfactory transduction, conserved biosystem (from KEGG)
Olfactory transduction, conserved biosystemWithin the compact cilia of the olfactory receptor neurons (ORNs) a cascade of enzymatic activity transduces the binding of an odorant molecule to a receptor into an electrical signal that can be tra...
Phototransduction, organism-specific biosystem (from KEGG)
Phototransduction, organism-specific biosystemPhototransduction is a biochemical process by which the photoreceptor cells generate electrical signals in response to captured photons. The vertebrate cascade starts with the absorption of photons b...
Phototransduction, conserved biosystem (from KEGG)
Phototransduction, conserved biosystemPhototransduction is a biochemical process by which the photoreceptor cells generate electrical signals in response to captured photons. The vertebrate cascade starts with the absorption of photons b...

General gene information

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Markers

L17694 (e-PCR)
- UniSTS:14594

G63062 (e-PCR)
- UniSTS:140037

MARC_10217-10218:998404657:1 (e-PCR)
- UniSTS:267070

SHGC-32528 (e-PCR)
- UniSTS:19871

Genotypes

See CNGB1 SNP Geneview Report
See CNGB1 SNP Genotype Report
See CNGB1 SNP Variation Viewer Report

Homology

Homologs of the CNGB1 gene: The CNGB1 gene is conserved in chimpanzee, Rhesus monkey, cow, mouse, rat, chicken, and zebrafish.
Map Viewer (Mouse, Rat)
OrthoDB: The Hierarchical Catalog of Eukaryotic Orthologs

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
cAMP binding	IEA Inferred from Electronic Annotation more info
intracellular cAMP activated cation channel activity	NAS Non-traceable Author Statement more info
ligand-gated ion channel activity	TAS Traceable Author Statement more info	PubMed

Process	Evidence Code	Pubs
photoreceptor cell maintenance	IEA Inferred from Electronic Annotation more info
phototransduction	IEA Inferred from Electronic Annotation more info
protein localization to organelle	IEA Inferred from Electronic Annotation more info
sensory perception of smell	IEA Inferred from Electronic Annotation more info
transport	TAS Traceable Author Statement more info	PubMed
visual perception	TAS Traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
intracellular cyclic nucleotide activated cation channel complex	NAS Non-traceable Author Statement more info

General protein information

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Preferred Names: cyclic nucleotide-gated cation channel beta-1

Names: cyclic nucleotide-gated cation channel beta-1; CNG-4; CNG channel beta-1; glutamic acid-rich protein; glutamic-acid-rich protein; cyclic nucleotide-gated channel beta-1; cyclic nucleotide-gated cation channel 4; cyclic nucleotide-gated cation channel gamma; cyclic nucleotide-gated cation channel modulatory subunit

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_016351.1 RefSeqGene

Range

5001..93777

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001135639.1 → NP_001129111.1 cyclic nucleotide-gated cation channel beta-1 isoform b

Status: REVIEWED

Description

Transcript Variant: This variant (2) uses an alternate exon and lacks the 3' coding region, compared to variant 1. The resulting isoform (b), also known as GARP2, is much shorter and has a unique C-terminus, compared to isoform a.

Source sequence(s)

AC010543, BM672421, BQ638084, EL945866, U18945

Consensus CDS

CCDS45495.1

UniProtKB/Swiss-Prot

Q14028

Related

ENSP00000311670, OTTHUMP00000254324, ENST00000311183, OTTHUMT00000432078
NM_001297.4 → NP_001288.3 cyclic nucleotide-gated cation channel beta-1 isoform a

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (a).

Source sequence(s)

AC010543, BM678849, U18945, U58837

Consensus CDS

CCDS42169.1

UniProtKB/Swiss-Prot

Q14028

Conserved Domains (3) summary

cd00038
Location:962 – 1071
Blast Score: 214

CAP_ED; effector domain of the CAP family of transcription factors; members include CAP (or cAMP receptor protein (CRP)), which binds cAMP, FNR (fumarate and nitrate reduction), which uses an iron-sulfur cluster to sense oxygen) and CooA, a heme containing CO ...

COG0664
Location:956 – 1071
Blast Score: 140

Crp; cAMP-binding proteins - catabolite gene activator and regulatory subunit of cAMP-dependent protein kinases [Signal transduction mechanisms]

pfam00520
Location:694 – 879
Blast Score: 133

Ion_trans; Ion transport protein

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 104

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh37.p10 Primary Assembly

Genomic

NC_000016.9 Reference GRCh37.p10 Primary Assembly

Range

57916244..58005020, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000148.1 Alternate HuRef

Range

43783333..43871939, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.0

Genomic

NC_018927.1 Alternate CHM1_1.0

Range

58927647..59016391, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	ABBA01025285.1 (35008..39209)	None
genomic	ABBA01025286.1	None
genomic	ABBA01025287.1	None
genomic	AC010543.9 (45609..133959)	None
genomic	AMYH01007705.1 (24495..113239)	None
genomic	CH471092.1	EAW82957.1
		EAW82958.1
genomic	L15296.1	AAA65620.1
genomic	L15297.1	AAA65619.1
mRNA	AF042498.1	AAC04830.1
mRNA	BM672421.1	None
mRNA	BM678849.1	None
mRNA	BQ638084.1	None
mRNA	EL945866.1	None
mRNA	U18945.1	AAA91633.1
mRNA	U58837.1	AAB63387.1
other-genetic	BC140364.1	AAI40365.1
other-genetic	BC156722.1	AAI56723.1