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1.A.1.5.12
Cyclic nucleotide-gated cation channel α3 (CNGA3 or CNG3); photoreceptor cGMP-gated channel α-subunit. Also possibly expressed in inner ear cell cells where it binds to an intracellular C-terminal domain of EMILIN1 (Selvakumar et al., 2012).  Elastic network model analysis of the CNGA3 channel supports a modular model of allosteric gating, according to which protein domains are quasi-independent: they can move independently but are coupled to each other allosterically (Gofman et al. 2014).

Accession Number:Q16281
Protein Name:Cyclic nucleotide-gated cation channel alpha-3
Length:694
Molecular Weight:78838.00
Species:Homo sapiens (Human) [9606]
Number of TMSs:4
Location1 / Topology2 / Orientation3: Membrane1 / Multi-pass membrane protein2
Substrate cations

Cross database links:

Genevestigator: Q16281
eggNOG: NOG300025
HEGENOM: HOG000007898
Entrez Gene ID: 1261   
Pfam: PF00027    PF00520   
KEGG: hsa:1261   

Gene Ontology

GO:0016021 C:integral to membrane
GO:0030553 F:cGMP binding
GO:0015276 F:ligand-gated ion channel activity
GO:0007165 P:signal transduction
GO:0007601 P:visual perception

References (13)

[1] “Cloning, chromosomal localization and functional expression of the gene encoding the alpha-subunit of the cGMP-gated channel in human cone photoreceptors.”  Wissinger B.et.al.   9517456
[2] “Generation and annotation of the DNA sequences of human chromosomes 2 and 4.”  Hillier L.W.et.al.   15815621
[3] “The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).”  The MGC Project Teamet.al.   15489334
[4] “Expression of cyclic nucleotide-gated cation channels in non-sensory tissues and cells.”  Distler M.et.al.   7532814
[5] “Genetic basis of total colourblindness among the Pingelapese islanders.”  Sundin O.H.et.al.   10888875
[6] “Subunit configuration of heteromeric cone cyclic nucleotide-gated channels.”  Peng C.et.al.   15134637
[7] “Total colourblindness is caused by mutations in the gene encoding the alpha-subunit of the cone photoreceptor cGMP-gated cation channel.”  Kohl S.et.al.   9662398
[8] “CNGA3 mutations in hereditary cone photoreceptor disorders.”  Wissinger B.et.al.   11536077
[9] “Achromatopsia caused by novel mutations in both CNGA3 and CNGB3.”  Johnson S.et.al.   14757870
[10] “Functional consequences of progressive cone dystrophy-associated mutations in the human cone photoreceptor cyclic nucleotide-gated channel CNGA3 subunit.”  Liu C.et.al.   15743887
[11] “Cone cGMP-gated channel mutations and clinical findings in patients with achromatopsia, macular degeneration, and other hereditary cone diseases.”  Nishiguchi K.M.et.al.   15712225
[12] “Mutations in CNGA3 impair trafficking or function of cone cyclic nucleotide-gated channels, resulting in achromatopsia.”  Reuter P.et.al.   18521937
[13] “Whole-exome sequencing identifies ALMS1, IQCB1, CNGA3, and MYO7A mutations in patients with leber congenital amaurosis.”  Wang X.et.al.   21901789
Structure:
3SWY     

External Searches:

  • Search: DB with
  • BLAST ExPASy (Swiss Institute of Bioinformatics (SIB) BLAST)
  • CDD Search (Conserved Domain Database)
  • Search COGs (Clusters of Orthologous Groups of proteins)
  • 2° Structure (Network Protein Sequence Analysis)

Analyze:

Predict TMSs (Predict number of transmembrane segments)
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FASTA formatted sequence
1:	MAKINTQYSH PSRTHLKVKT SDRDLNRAEN GLSRAHSSSE ETSSVLQPGI AMETRGLADS 
61:	GQGSFTGQGI ARLSRLIFLL RRWAARHVHH QDQGPDSFPD RFRGAELKEV SSQESNAQAN 
121:	VGSQEPADRG RSAWPLAKCN TNTSNNTEEE KKTKKKDAIV VDPSSNLYYR WLTAIALPVF 
181:	YNWYLLICRA CFDELQSEYL MLWLVLDYSA DVLYVLDVLV RARTGFLEQG LMVSDTNRLW 
241:	QHYKTTTQFK LDVLSLVPTD LAYLKVGTNY PEVRFNRLLK FSRLFEFFDR TETRTNYPNM 
301:	FRIGNLVLYI LIIIHWNACI YFAISKFIGF GTDSWVYPNI SIPEHGRLSR KYIYSLYWST 
361:	LTLTTIGETP PPVKDEEYLF VVVDFLVGVL IFATIVGNVG SMISNMNASR AEFQAKIDSI 
421:	KQYMQFRKVT KDLETRVIRW FDYLWANKKT VDEKEVLKSL PDKLKAEIAI NVHLDTLKKV 
481:	RIFQDCEAGL LVELVLKLRP TVFSPGDYIC KKGDIGKEMY IINEGKLAVV ADDGVTQFVV 
541:	LSDGSYFGEI SILNIKGSKS GNRRTANIRS IGYSDLFCLS KDDLMEALTE YPEAKKALEE 
601:	KGRQILMKDN LIDEELARAG ADPKDLEEKV EQLGSSLDTL QTRFARLLAE YNATQMKMKQ 
661:	RLSQLESQVK GGGDKPLADG EVPGDATKTE DKQQ