InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Gene: CNGA1

Summary

InnateDB Gene

IDBG-17103.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

CNGA1

Gene Name

cyclic nucleotide gated channel alpha 1

Synonyms

CNCG; CNCG1; CNG-1; CNG1; RCNC1; RCNCa; RCNCalpha; RP49

Species

Homo sapiens

Ensembl Gene

ENSG00000198515

Encoded Proteins

IDBP-17105

cyclic nucleotide gated channel alpha 1

IDBP-294410

cyclic nucleotide gated channel alpha 1

IDBP-367229

cyclic nucleotide gated channel alpha 1

IDBP-475423

cyclic nucleotide gated channel alpha 1

IDBP-481512

cyclic nucleotide gated channel alpha 1

IDBP-478304

cyclic nucleotide gated channel alpha 1

IDBP-485321

cyclic nucleotide gated channel alpha 1

IDBP-585490

cyclic nucleotide gated channel alpha 1

Protein Structure

Useful resources

Stemformatics EHFPI ImmGen

Entrez Gene

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]

Gene Information

Type

Protein coding

Genomic Location

Chromosome 4:47935977-48016672

Strand

Reverse strand

Band

p12

Transcripts

ENST00000358519	ENSP00000351320
ENST00000402813	ENSP00000384264
ENST00000420489	ENSP00000389881
ENST00000514170	ENSP00000426862
ENST00000506118
ENST00000504722	ENSP00000423721
ENST00000514520	ENSP00000421110
ENST00000513178	ENSP00000423327
ENST00000544810	ENSP00000443401

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 2 experimentally validated interaction(s) in this database.

Experimentally validated
Total	2 [view]
Protein-Protein	2 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0005216	ion channel activity
GO:0005222	intracellular cAMP activated cation channel activity
GO:0005223	intracellular cGMP activated cation channel activity
GO:0005249	voltage-gated potassium channel activity
GO:0005515	protein binding
GO:0030553	cGMP binding

Biological Process

GO:0006810	transport
GO:0006811	ion transport
GO:0007601	visual perception
GO:0007603	phototransduction, visible light
GO:0016056	rhodopsin mediated signaling pathway
GO:0022400	regulation of rhodopsin mediated signaling pathway
GO:0042391	regulation of membrane potential
GO:0055085	transmembrane transport
GO:0071805	potassium ion transmembrane transport

Cellular Component

GO:0001750	photoreceptor outer segment
GO:0005886	plasma membrane
GO:0005887	integral component of plasma membrane
GO:0016020	membrane
GO:0042622	photoreceptor outer segment membrane

Orthologs

Species

Mus musculus

Bos taurus

Gene ID

Gene Order

ENSMUSG00000067220

View Gene Order

ENSBTAG00000002205

Not yet available

Pathways

NETPATH

REACTOME

REACT_163932

Activation of the phototransduction cascade pathway

REACT_111102

Signal Transduction pathway

REACT_160102

Diseases associated with visual transduction pathway

REACT_160125

Visual phototransduction pathway

REACT_163722

The phototransduction cascade pathway

REACT_163919

Inactivation, recovery and regulation of the phototransduction cascade pathway

REACT_116125

Disease pathway

KEGG

hsa04744

Phototransduction pathway

INOH

PID NCI

rhodopsin_pathway

Visual signal transduction: Rods

Cross-References

SwissProt

TrEMBL

UniProt Splice Variant

Entrez Gene

UniGene

Hs.1323 Hs.673717

RefSeq

NM_000087 NM_001142564 XM_005248049

HUGO

OMIM

CCDS

CCDS43226 CCDS47050

HPRD

00445

IMGT

EMBL

GenPept

RNA Seq Atlas