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

Gene ID: 1258, updated on 6-Sep-2021

Summary

Official Symbol
CNGB1provided by HGNC
Official Full Name
cyclic nucleotide gated channel subunit beta 1provided by HGNC
Primary source
HGNC:HGNC:2151
See related
Ensembl:ENSG00000070729 MIM:600724
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
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Genomic context

See CNGB1 in Genome Data Viewer
Location:
16q21
Exon count:
36
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 16 NC_000016.10 (57882340..57971128, complement)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (57916244..58005032, 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 Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables cAMP binding IEA
Inferred from Electronic Annotation
more info
 
enables cGMP binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables cGMP binding IDA
Inferred from Direct Assay
more info
PubMed 
enables intracellular cAMP-activated cation channel activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables intracellular cGMP-activated cation channel activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables intracellular cGMP-activated cation channel activity IDA
Inferred from Direct Assay
more info
PubMed 
enables ligand-gated ion channel activity TAS
Traceable Author Statement
more info
PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables protein-containing complex binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
involved_in cation transmembrane transport IEA
Inferred from Electronic Annotation
more info
 
involved_in cation transport IDA
Inferred from Direct Assay
more info
PubMed 
involved_in detection of chemical stimulus involved in sensory perception of smell ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in detection of light stimulus involved in visual perception IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in ion channel modulating, G protein-coupled receptor signaling pathway ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in membrane depolarization ISS
Inferred from Sequence or Structural Similarity
more info
 
acts_upstream_of olfactory nerve maturation ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in photoreceptor cell maintenance IEA
Inferred from Electronic Annotation
more info
 
involved_in photoreceptor cell outer segment organization IEA
Inferred from Electronic Annotation
more info
 
involved_in phototransduction IEA
Inferred from Electronic Annotation
more info
 
involved_in positive regulation of gene expression IEA
Inferred from Electronic Annotation
more info
 
involved_in protein localization to organelle IEA
Inferred from Electronic Annotation
more info
 
involved_in regulation of cytosolic calcium ion concentration IEA
Inferred from Electronic Annotation
more info
 
involved_in response to odorant ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in retina homeostasis IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in visual perception TAS
Traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
located_in Golgi-associated vesicle membrane TAS
Traceable Author Statement
more info
 
located_in ciliary membrane TAS
Traceable Author Statement
more info
 
part_of intracellular cyclic nucleotide activated cation channel complex IEA
Inferred from Electronic Annotation
more info
 
located_in photoreceptor outer segment IEA
Inferred from Electronic Annotation
more info
 
located_in plasma membrane TAS
Traceable Author Statement
more info
 
located_in terminal bouton IEA
Inferred from Electronic Annotation
more info
 
part_of 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 channel beta 1
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)

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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

  1. NG_016351.1 RefSeqGene

    Range
    4989..93777
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001135639.2NP_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, ENST00000311183.8
    Conserved Domains (1) summary
    PRK14971
    Location:166254
    PRK14971; DNA polymerase III subunits gamma and tau; Provisional
  2. NM_001286130.2NP_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, ENST00000564448.5
    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_001297.5NP_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, ENST00000251102.13
    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 Updated Annotation Release 109.20210514

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000016.10 Reference GRCh38.p13 Primary Assembly

    Range
    57882340..57971128 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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