Format

Send to:

Choose Destination

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

Gene ID: 1259, updated on 12-Aug-2018

Summary

Official Symbol
CNGA1provided by HGNC
Official Full Name
cyclic nucleotide gated channel alpha 1provided by HGNC
Primary source
HGNC:HGNC:2148
See related
Ensembl:ENSG00000198515 MIM:123825; Vega:OTTHUMG00000160668
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. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2008]
Expression
Broad expression in liver (RPKM 2.5), small intestine (RPKM 1.6) and 17 other tissues See more
Orthologs

Genomic context

See CNGA1 in Genome Data Viewer
Location:
4p12
Exon count:
13
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 4 NC_000004.12 (47935015..48016718, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (47937994..48018646, 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 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...
  • 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...
  • 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...
  • Visual signal transduction: Rods, organism-specific biosystem (from Pathway Interaction Database)
    Visual signal transduction: Rods, organism-specific biosystem
    Visual signal transduction: Rods
  • 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
cGMP binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cGMP binding IEA
Inferred from Electronic Annotation
more info
 
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 cyclic nucleotide activated cation channel activity IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
potassium ion transmembrane transport IEA
Inferred from Electronic Annotation
more info
 
regulation of rhodopsin mediated signaling pathway TAS
Traceable Author Statement
more info
 
rhodopsin mediated signaling pathway TAS
Traceable Author Statement
more info
 
visual perception IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
integral component of plasma membrane TAS
Traceable Author Statement
more info
PubMed 
photoreceptor outer segment membrane IEA
Inferred from Electronic Annotation
more info
 
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 cation channel 1
cyclic nucleotide-gated channel, photoreceptor
interleukin-1 homologue
rod photoreceptor cGMP-gated channel subunit alpha

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_009193.1 RefSeqGene

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

mRNA and Protein(s)

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

    See identical proteins and their annotated locations for NP_000078.2

    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.
    Source sequence(s)
    AK292021, S42457, W93472
    Consensus CDS
    CCDS43226.1
    UniProtKB/Swiss-Prot
    P29973
    UniProtKB/TrEMBL
    A0A024R9X3
    Related
    ENSP00000389881.2, OTTHUMP00000223314, ENST00000420489.6, OTTHUMT00000372071
    Conserved Domains (4) summary
    COG0664
    Location:473604
    Crp; cAMP-binding domain of CRP or a regulatory subunit of cAMP-dependent protein kinases [Signal transduction mechanisms]
    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:187407
    Ion_trans; Ion transport protein
    pfam16526
    Location:595665
    CLZ; C-terminal leucine zipper domain of cyclic nucleotide-gated channels
  2. NM_001142564.1NP_001136036.1  cGMP-gated cation channel alpha-1 isoform 1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AC107068, AK292021, S42457, W93472
    Consensus CDS
    CCDS47050.1
    UniProtKB/Swiss-Prot
    P29973
    Related
    ENSP00000384264.3, OTTHUMP00000218675, ENST00000402813.7, OTTHUMT00000361627
    Conserved Domains (4) summary
    COG0664
    Location:542673
    Crp; cAMP-binding domain of CRP or a regulatory subunit of cAMP-dependent protein kinases [Signal transduction mechanisms]
    cd00038
    Location:548664
    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:256476
    Ion_trans; Ion transport protein
    pfam16526
    Location:664734
    CLZ; C-terminal leucine zipper domain of cyclic nucleotide-gated channels

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_000004.12 Reference GRCh38.p12 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 (4) summary
    COG0664
    Location:473604
    Crp; cAMP-binding domain of CRP or a regulatory subunit of cAMP-dependent protein kinases [Signal transduction mechanisms]
    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:187407
    Ion_trans; Ion transport protein
    pfam16526
    Location:595665
    CLZ; C-terminal leucine zipper domain of cyclic nucleotide-gated channels
  3. XM_017007712.1XP_016863201.1  cGMP-gated cation channel alpha-1 isoform X2

    UniProtKB/Swiss-Prot
    P29973
    UniProtKB/TrEMBL
    A0A024R9X3
    Related
    ENSP00000426862.1, OTTHUMP00000223313, ENST00000514170.5, OTTHUMT00000372070
    Conserved Domains (4) summary
    COG0664
    Location:473604
    Crp; cAMP-binding domain of CRP or a regulatory subunit of cAMP-dependent protein kinases [Signal transduction mechanisms]
    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:187407
    Ion_trans; Ion transport protein
    pfam16526
    Location:595665
    CLZ; C-terminal leucine zipper domain of cyclic nucleotide-gated channels
Support Center