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

Gene ID: 1258, updated on 2-Oct-2018

Summary

Official Symbol
CNGB1provided by HGNC
Official Full Name
cyclic nucleotide gated channel beta 1provided by HGNC
Primary source
HGNC:HGNC:2151
See related
Ensembl:ENSG00000070729 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; GARP2; 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. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2013]
Expression
Low expression observed in reference dataset See more
Orthologs

Genomic context

See CNGB1 in Genome Data Viewer
Location:
16q21
Exon count:
36
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 16 NC_000016.10 (57882340..57971116, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (57916244..58005020, complement)

Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene kinesin family member C3 Neighboring gene uncharacterized LOC388282 Neighboring gene RNA, U6 small nuclear 20, pseudogene Neighboring gene testis, prostate and placenta expressed Neighboring gene zinc finger protein 319 Neighboring gene U6 snRNA biogenesis phosphodiesterase 1

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Pathways from BioSystems

  • Activation of the phototransduction cascade, organism-specific biosystem (from REACTOME)
    Activation of the phototransduction cascade, organism-specific biosystemThe photoreceptor cascade starts with light isomerization of 11-cis-retinal (11cRAL) of rhodopsin (RHO) to all-trans-retinal (atRAL), inducing a conformational change in RHO to the active, metarhodop...
  • Cargo trafficking to the periciliary membrane, organism-specific biosystem (from REACTOME)
    Cargo trafficking to the periciliary membrane, organism-specific biosystemProteomic studies suggest that the cilium is home to approximately a thousand proteins, and has a unique protein and lipid make up relative to the bulk cytoplasm and plasma membrane (Pazour et al, 20...
  • Cilium Assembly, organism-specific biosystem (from REACTOME)
    Cilium Assembly, organism-specific biosystemCilia are membrane covered organelles that extend from the surface of eukaryotic cells. Cilia may be motile, such as respiratory cilia) or non-motile (such as the primary cilium) and are distinguishe...
  • Inactivation, recovery and regulation of the phototransduction cascade, organism-specific biosystem (from REACTOME)
    Inactivation, recovery and regulation of the phototransduction cascade, organism-specific biosystemTo terminate the single photon response and restore the system to its basal state, the three activated intermediates in phototransduction, rhodopsin (MII), transducin alpha subunit with GTP bound (GN...
  • 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...
  • Organelle biogenesis and maintenance, organism-specific biosystem (from REACTOME)
    Organelle biogenesis and maintenance, organism-specific biosystemThis module describes the biogenesis of organelles. Organelles are subcellular structures of distinctive morphology and function. The organelles of human cells include: mitochondria, endoplasmic reti...
  • 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...
  • Signal Transduction, organism-specific biosystem (from REACTOME)
    Signal Transduction, organism-specific biosystemSignal transduction is a process in which extracellular signals elicit changes in cell state and activity. Transmembrane receptors sense changes in the cellular environment by binding ligands, such a...
  • The phototransduction cascade, organism-specific biosystem (from REACTOME)
    The phototransduction cascade, organism-specific biosystemThe visual pigment (rhodopsin in rods) consists of an 11-cis-retinal (11cRAL) chromophore covalently attached to a GPCR opsin family member via a Schiff base linkage. Upon photon absorption, 11cRAL i...
  • Visual phototransduction, organism-specific biosystem (from REACTOME)
    Visual phototransduction, organism-specific biosystemVisual phototransduction is the process by which photon absorption by visual pigment molecules in photoreceptor cells is converted to an electrical cellular response. The events in this process are p...
  • VxPx cargo-targeting to cilium, organism-specific biosystem (from REACTOME)
    VxPx cargo-targeting to cilium, organism-specific biosystemA number of membrane proteins destined for the ciliary membrane are recognized by ARF4 in the trans-Golgi network, initiating the formation of a ciliary targeting complex that directs the passage of ...
  • cAMP signaling pathway, organism-specific biosystem (from KEGG)
    cAMP signaling pathway, organism-specific biosystemcAMP is one of the most common and universal second messengers, and its formation is promoted by adenylyl cyclase (AC) activation after ligation of G protein-coupled receptors (GPCRs) by ligands incl...
  • cAMP signaling pathway, conserved biosystem (from KEGG)
    cAMP signaling pathway, conserved biosystemcAMP is one of the most common and universal second messengers, and its formation is promoted by adenylyl cyclase (AC) activation after ligation of G protein-coupled receptors (GPCRs) by ligands incl...
  • cGMP signaling, organism-specific biosystem (from KEGG)
    cGMP signaling, organism-specific biosystemFunctional set; Cellular processes; Cell signaling
  • cGMP signaling, conserved biosystem (from KEGG)
    cGMP signaling, conserved biosystemFunctional set; Cellular processes; Cell signaling
  • cGMP-PKG signaling pathway, organism-specific biosystem (from KEGG)
    cGMP-PKG signaling pathway, organism-specific biosystemCyclic GMP (cGMP) is the intracellular second messenger that mediates the action of nitric oxide (NO) and natriuretic peptides (NPs), regulating a broad array of physiologic processes. The elevated i...
  • cGMP-PKG signaling pathway, conserved biosystem (from KEGG)
    cGMP-PKG signaling pathway, conserved biosystemCyclic GMP (cGMP) is the intracellular second messenger that mediates the action of nitric oxide (NO) and natriuretic peptides (NPs), regulating a broad array of physiologic processes. The elevated i...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
cAMP binding IEA
Inferred from Electronic Annotation
more info
 
cGMP binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cGMP binding IDA
Inferred from Direct Assay
more info
PubMed 
intracellular cAMP-activated cation channel activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
intracellular cGMP-activated cation channel activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
intracellular cGMP-activated cation channel activity IDA
Inferred from Direct Assay
more info
PubMed 
ligand-gated ion channel activity TAS
Traceable Author Statement
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
cation transmembrane transport IEA
Inferred from Electronic Annotation
more info
 
cation transport IDA
Inferred from Direct Assay
more info
PubMed 
detection of light stimulus involved in visual perception IMP
Inferred from Mutant Phenotype
more info
PubMed 
photoreceptor cell maintenance IEA
Inferred from Electronic Annotation
more info
 
photoreceptor cell outer segment organization IEA
Inferred from Electronic Annotation
more info
 
protein heterotetramerization IEA
Inferred from Electronic Annotation
more info
 
protein localization to organelle IEA
Inferred from Electronic Annotation
more info
 
regulation of cytosolic calcium ion concentration IEA
Inferred from Electronic Annotation
more info
 
regulation of rhodopsin mediated signaling pathway TAS
Traceable Author Statement
more info
 
retina homeostasis IMP
Inferred from Mutant Phenotype
more info
PubMed 
rhodopsin mediated signaling pathway TAS
Traceable Author Statement
more info
 
sensory perception of smell IEA
Inferred from Electronic Annotation
more info
 
visual perception TAS
Traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
Golgi membrane TAS
Traceable Author Statement
more info
 
Golgi-associated vesicle membrane TAS
Traceable Author Statement
more info
 
ciliary membrane TAS
Traceable Author Statement
more info
 
intracellular cyclic nucleotide activated cation channel complex IEA
Inferred from Electronic Annotation
more info
 
photoreceptor outer segment IEA
Inferred from Electronic Annotation
more info
 
plasma membrane TAS
Traceable Author Statement
more info
 
terminal bouton IEA
Inferred from Electronic Annotation
more info
 
transmembrane transporter complex IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

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

NCBI Reference Sequences (RefSeq)

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

  1. NG_016351.1 RefSeqGene

    Range
    5001..93777
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001135639.1NP_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
    ENSP00000311670.4, OTTHUMP00000254324, ENST00000311183.8, OTTHUMT00000432078
    Conserved Domains (1) summary
    PRK14971
    Location:166254
    PRK14971; DNA polymerase III subunits gamma and tau; Provisional
  2. NM_001286130.1NP_001273059.1  cyclic nucleotide-gated cation channel beta-1 isoform c

    See identical proteins and their annotated locations for NP_001273059.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) uses an alternate in-frame splice junction at the 3' end of an exon compared to variant 1. The resulting isoform (c) has the same N- and C-termini but is shorter compared to isoform a.
    Source sequence(s)
    AC010543, AF042498, BM678849, U18945, U58837
    Consensus CDS
    CCDS67042.1
    UniProtKB/Swiss-Prot
    Q14028
    Related
    ENSP00000454633.1, OTTHUMP00000254345, ENST00000564448.5, OTTHUMT00000432160
    Conserved Domains (4) summary
    pfam05887
    Location:171251
    Trypan_PARP; Procyclic acidic repetitive protein (PARP)
    COG0664
    Location:9501087
    Crp; cAMP-binding domain of CRP or a regulatory subunit of cAMP-dependent protein kinases [Signal transduction mechanisms]
    cd00038
    Location:9561065
    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 ...
    pfam00520
    Location:668875
    Ion_trans; Ion transport protein
  3. NM_001297.4NP_001288.3  cyclic nucleotide-gated cation channel beta-1 isoform a

    See identical proteins and their annotated locations for NP_001288.3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (a).
    Source sequence(s)
    AC010543, BM678849, U18945, U58837
    Consensus CDS
    CCDS42169.1
    UniProtKB/Swiss-Prot
    Q14028
    Related
    ENSP00000251102.8, OTTHUMP00000206726, ENST00000251102.12, OTTHUMT00000337167
    Conserved Domains (4) summary
    pfam05887
    Location:171257
    Trypan_PARP; Procyclic acidic repetitive protein (PARP)
    COG0664
    Location:9561093
    Crp; cAMP-binding domain of CRP or a regulatory subunit of cAMP-dependent protein kinases [Signal transduction mechanisms]
    cd00038
    Location:9621071
    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 ...
    pfam00520
    Location:674881
    Ion_trans; Ion transport protein

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000016.10 Reference GRCh38.p12 Primary Assembly

    Range
    57882340..57971116 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011522870.2XP_011521172.1  cyclic nucleotide-gated cation channel beta-1 isoform X1

    Conserved Domains (3) summary
    COG0664
    Location:573710
    Crp; cAMP-binding domain of CRP or a regulatory subunit of cAMP-dependent protein kinases [Signal transduction mechanisms]
    cd00038
    Location:579688
    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 ...
    pfam00520
    Location:291498
    Ion_trans; Ion transport protein
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