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|---|---|
| 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
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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
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| Structure: | |
External Searches:
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Analyze:
| Predict TMSs (Predict number of transmembrane segments) | ||||
| FASTA formatted sequence |
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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