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CNGA1 cyclic nucleotide gated channel subunit alpha 1 [ Homo sapiens (human) ]

Gene ID: 1259, updated on 23-Nov-2021

Summary

Official Symbol
CNGA1provided by HGNC
Official Full Name
cyclic nucleotide gated channel subunit alpha 1provided by HGNC
Primary source
HGNC:HGNC:2148
See related
Ensembl:ENSG00000198515 MIM:123825
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
CNCG; CNG1; RP49; CNCG1; CNG-1; RCNC1; RCNCa; RCNCalpha
Summary
The protein encoded by this gene is involved in phototransduction. Along with another protein, the encoded protein forms a cGMP-gated cation channel in the plasma membrane, allowing depolarization of rod photoreceptors. This represents the last step in the phototransduction pathway. Defects in this gene are a cause of retinitis pigmentosa autosomal recessive (ARRP) disease. Multiple transcript variants have been found for this gene. [provided by RefSeq, Oct 2019]
Expression
Broad expression in liver (RPKM 2.5), small intestine (RPKM 1.6) and 17 other tissues See more
Orthologs
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Genomic context

See CNGA1 in Genome Data Viewer
Location:
4p12
Exon count:
13
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 4 NC_000004.12 (47935015..48016718, complement)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (47937994..48018698, complement)

Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene corin, serine peptidase Neighboring gene VISTA enhancer hs2414 Neighboring gene uncharacterized LOC101927179 Neighboring gene nuclear transcription factor, X-box binding like 1 Neighboring gene uncharacterized LOC101927157 Neighboring gene NIPA like domain containing 1 Neighboring gene RNA, U6 small nuclear 838, pseudogene Neighboring gene TXK tyrosine kinase

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 cGMP binding IBA
Inferred from Biological aspect of Ancestor
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 protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
involved_in cation transmembrane transport IEA
Inferred from Electronic Annotation
more info
 
involved_in response to stimulus IEA
Inferred from Electronic Annotation
more info
 
involved_in visual perception IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
located_in integral component of plasma membrane TAS
Traceable Author Statement
more info
PubMed 
located_in photoreceptor outer segment membrane IEA
Inferred from Electronic Annotation
more info
 
located_in plasma membrane TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
cGMP-gated cation channel alpha-1
Names
CNG channel alpha-1
cyclic nucleotide gated channel alpha 1
cyclic nucleotide-gated cation channel 1
cyclic nucleotide-gated channel, photoreceptor
interleukin-1 homologue
rod photoreceptor cGMP-gated channel subunit alpha

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_009193.1 RefSeqGene

    Range
    36412..81968
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_000087.5NP_000078.3  cGMP-gated cation channel alpha-1 isoform 2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (2) has a shorter N-terminus compared to isoform 1. Variants 2 and 3 both encode the same isoform (2).
    Source sequence(s)
    AC096749, AC107068
    Consensus CDS
    CCDS43226.1
    Related
    ENSP00000389881.3, ENST00000420489.7
    Conserved Domains (3) summary
    cd00038
    Location:475591
    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:161403
    Ion_trans; Ion transport protein
    pfam16526
    Location:591660
    CLZ; C-terminal leucine zipper domain of cyclic nucleotide-gated channels
  2. NM_001142564.2NP_001136036.2  cGMP-gated cation channel alpha-1 isoform 1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (1).
    Source sequence(s)
    AC096749, AC107068
    Consensus CDS
    CCDS47050.1
    Related
    ENSP00000384264.5, ENST00000402813.9
    Conserved Domains (3) summary
    cd00038
    Location:475591
    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:161403
    Ion_trans; Ion transport protein
    pfam16526
    Location:591660
    CLZ; C-terminal leucine zipper domain of cyclic nucleotide-gated channels
  3. NM_001379270.1NP_001366199.1  cGMP-gated cation channel alpha-1 isoform 2

    Status: REVIEWED

    Source sequence(s)
    AC096749, AC107068
    Related
    ENSP00000426862.3, ENST00000514170.7
    Conserved Domains (3) summary
    cd00038
    Location:475591
    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:161403
    Ion_trans; Ion transport protein
    pfam16526
    Location:591660
    CLZ; C-terminal leucine zipper domain of cyclic nucleotide-gated channels

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20211119

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000004.12 Reference GRCh38.p13 Primary Assembly

    Range
    47935015..48016718 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005248049.4XP_005248106.2  cGMP-gated cation channel alpha-1 isoform X1

  2. XM_011513623.2XP_011511925.1  cGMP-gated cation channel alpha-1 isoform X2

    See identical proteins and their annotated locations for XP_011511925.1

    UniProtKB/Swiss-Prot
    P29973
    UniProtKB/TrEMBL
    A0A024R9X3
    Conserved Domains (3) summary
    cd00038
    Location:479595
    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:165407
    Ion_trans; Ion transport protein
    pfam16526
    Location:595664
    CLZ; C-terminal leucine zipper domain of cyclic nucleotide-gated channels
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