Hmdb loader
Survey
Identification
HMDB Protein ID HMDBP01124
Secondary Accession Numbers
  • 6418
Name cGMP-gated cation channel alpha-1
Synonyms
  1. CNG channel alpha-1
  2. CNG-1
  3. CNG1
  4. Cyclic nucleotide-gated cation channel 1
  5. Cyclic nucleotide-gated channel alpha-1
  6. Cyclic nucleotide-gated channel, photoreceptor
  7. Rod photoreceptor cGMP-gated channel subunit alpha
Gene Name CNGA1
Protein Type Enzyme
Biological Properties
General Function Involved in ion channel activity
Specific Function Visual signal transduction is mediated by a G-protein coupled cascade using cGMP as second messenger. This protein can be activated by cyclic GMP which leads to an opening of the cation channel and thereby causing a depolarization of rod photoreceptors
Pathways Not Available
Reactions Not Available
GO Classification
Component
membrane
cell part
Function
transmembrane transporter activity
substrate-specific transmembrane transporter activity
ion transmembrane transporter activity
transporter activity
ion channel activity
Process
establishment of localization
transport
transmembrane transport
ion transport
Cellular Location
  1. Membrane
  2. Multi-pass membrane protein
Gene Properties
Chromosome Location Chromosome:4
Locus 4p12
SNPs CNGA1
Gene Sequence
>2073 bp
ATGAAACTATCCATGAAGAACAATATTATCAATACACAGCAGTCTTTTGTAACCATGCCC
AATGTGATTGTACCAGATATTGAAAAGGAAATACGAAGGATGGAAAATGGAGCATGCAGC
TCCTTTTCTGAGGATGATGACAGTGCCTCTACATCTGAAGAATCAGAGAATGAAAACCCT
CATGCAAGGGGTTCCTTTAGTTATAAGTCACTCAGAAAGGGAGGACCATCACAGAGGGAG
CAGTACCTGCCTGGTGCCATTGCACTTTTTAATGTGAACAACAGCAGCAATAAGGACCAG
GAACCAGAAGAAAAAAAGAAAAAGAAAAAAGAAAAGAAGAGCAAGTCAGATGATAAAAAC
GAAAATAAAAACGACCCAGAGAAGAAAAAGAAGAAAAAGGACAAAGAGAAGAAAAAGAAA
GAGGAGAAAAGCAAAGATAAGAAAGAAGAGGAGAAGAAAGAAGTTGTGGTTATTGATCCC
TCGGGAAACACATATTACAACTGGCTGTTTTGCATCACATTACCTGTTATGTACAACTGG
ACAATGGTTATTGCCAGAGCATGTTTTGATGAACTTCAATCTGATTACCTAGAATATTGG
CTCATTTTGGATTACGTATCAGACATAGTCTATTTAATCGATATGTTTGTACGAACAAGG
ACAGGTTACCTAGAACAAGGACTGCTGGTAAAGGAAGAACTTAAACTCATAAATAAATAT
AAATCCAACTTGCAATTTAAACTTGATGTTCTGTCACTGATACCAACTGATTTGCTGTAT
TTTAAGTTAGGGTGGAACTATCCAGAAATTAGATTAAACAGGTTGTTACGGTTCTCTCGT
ATGTTTGAGTTCTTCCAGAGAACAGAAACAAGGACAAACTATCCAAACATCTTCAGGATT
TCCAACCTTGTTATGTATATCGTCATCATTATCCACTGGAATGCATGTGTGTTCTACTCT
ATTTCTAAAGCTATTGGATTTGGAAATGATACATGGGTCTACCCTGATATTAATGATCCT
GAATTTGGCCGTTTGGCTAGAAAATACGTATACAGCCTTTACTGGTCTACACTGACTTTG
ACTACCATTGGTGAAACACCCCCTCCCGTGAGGGATTCTGAGTATGTCTTTGTGGTGGTT
GATTTCCTAATTGGAGTGTTAATTTTTGCTACCATCGTTGGTAACATAGGTTCTATGATT
TCCAACATGAATGCAGCCAGAGCAGAATTTCAAGCAAGAATTGATGCTATCAAGCAATAT
ATGCATTTTCGAAATGTAAGCAAAGATATGGAAAAGAGGGTTATTAAATGGTTTGACTAC
CTGTGGACCAACAAAAAAACAGTTGATGAGAAAGAAGTCTTAAAGTATCTACCTGATAAA
CTAAGAGCAGAAATTGCCATCAACGTTCACTTAGACACATTAAAAAAGGTACGCATTTTT
GCTGATTGTGAAGCTGGTCTGTTGGTGGAGTTGGTCTTGAAATTGCAACCCCAAGTCTAC
AGTCCTGGAGATTATATTTGCAAGAAAGGGGATATCGGACGAGAGATGTACATTATCAAG
GAAGGCAAACTCGCTGTGGTGGCAGATGATGGAGTCACTCAGTTTGTGGTATTGAGCGAT
GGCAGCTACTTCGGTGAGATCAGCATTCTTAACATTAAAGGGAGCAAAGCTGGCAATCGA
AGAACGGCCAATATTAAAAGTATTGGCTACTCAGACCTGTTCTGTCTCTCAAAAGATGAC
CTCATGGAAGCTCTAACTGAGTACCCAGATGCCAAAACTATGCTGGAAGAGAAAGGGAAG
CAGATTTTAATGAAAGATGGTCTACTGGATCTAAACATTGCAAATGCTGGCAGTGATCCT
AAAGATCTTGAAGAGAAGGTTACTCGAATGGAGGGGTCAGTAGACCTCCTGCAAACCAGG
TTTGCCCGAATCTTGGCTGAGTATGAGTCCATGCAGCAGAAACTGAAACAAAGATTAACC
AAGGTTGAGAAATTTCTGAAACCGCTTATTGACACAGAATTTTCAAGTATTGAGGGACCT
GGAGCGGAAAGTGGGCCCATCGACTCTACATAG
Protein Properties
Number of Residues 690
Molecular Weight 79584.8
Theoretical pI 7.98
Pfam Domain Function
Signals
  • None
Transmembrane Regions
  • 165-185
  • 199-217
  • 242-261
  • 300-322
  • 375-394
  • 479-499
Protein Sequence
>cGMP-gated cation channel alpha-1
MKLSMKNNIINTQQSFVTMPNVIVPDIEKEIRRMENGACSSFSEDDDSASTSEESENENP
HARGSFSYKSLRKGGPSQREQYLPGAIALFNVNNSSNKDQEPEEKKKKKKEKKSKSDDKN
ENKNDPEKKKKKKDKEKKKKEEKSKDKKEEEKKEVVVIDPSGNTYYNWLFCITLPVMYNW
TMVIARACFDELQSDYLEYWLILDYVSDIVYLIDMFVRTRTGYLEQGLLVKEELKLINKY
KSNLQFKLDVLSLIPTDLLYFKLGWNYPEIRLNRLLRFSRMFEFFQRTETRTNYPNIFRI
SNLVMYIVIIIHWNACVFYSISKAIGFGNDTWVYPDINDPEFGRLARKYVYSLYWSTLTL
TTIGETPPPVRDSEYVFVVVDFLIGVLIFATIVGNIGSMISNMNAARAEFQARIDAIKQY
MHFRNVSKDMEKRVIKWFDYLWTNKKTVDEKEVLKYLPDKLRAEIAINVHLDTLKKVRIF
ADCEAGLLVELVLKLQPQVYSPGDYICKKGDIGREMYIIKEGKLAVVADDGVTQFVVLSD
GSYFGEISILNIKGSKAGNRRTANIKSIGYSDLFCLSKDDLMEALTEYPDAKTMLEEKGK
QILMKDGLLDLNIANAGSDPKDLEEKVTRMEGSVDLLQTRFARILAEYESMQQKLKQRLT
KVEKFLKPLIDTEFSSIEGPGAESGPIDST
GenBank ID Protein 63990992
UniProtKB/Swiss-Prot ID P29973
UniProtKB/Swiss-Prot Entry Name CNGA1_HUMAN
PDB IDs Not Available
GenBank Gene ID AC107068
GeneCard ID CNGA1
GenAtlas ID CNGA1
HGNC ID HGNC:2148
References
General References
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  2. Hillier LW, Graves TA, Fulton RS, Fulton LA, Pepin KH, Minx P, Wagner-McPherson C, Layman D, Wylie K, Sekhon M, Becker MC, Fewell GA, Delehaunty KD, Miner TL, Nash WE, Kremitzki C, Oddy L, Du H, Sun H, Bradshaw-Cordum H, Ali J, Carter J, Cordes M, Harris A, Isak A, van Brunt A, Nguyen C, Du F, Courtney L, Kalicki J, Ozersky P, Abbott S, Armstrong J, Belter EA, Caruso L, Cedroni M, Cotton M, Davidson T, Desai A, Elliott G, Erb T, Fronick C, Gaige T, Haakenson W, Haglund K, Holmes A, Harkins R, Kim K, Kruchowski SS, Strong CM, Grewal N, Goyea E, Hou S, Levy A, Martinka S, Mead K, McLellan MD, Meyer R, Randall-Maher J, Tomlinson C, Dauphin-Kohlberg S, Kozlowicz-Reilly A, Shah N, Swearengen-Shahid S, Snider J, Strong JT, Thompson J, Yoakum M, Leonard S, Pearman C, Trani L, Radionenko M, Waligorski JE, Wang C, Rock SM, Tin-Wollam AM, Maupin R, Latreille P, Wendl MC, Yang SP, Pohl C, Wallis JW, Spieth J, Bieri TA, Berkowicz N, Nelson JO, Osborne J, Ding L, Meyer R, Sabo A, Shotland Y, Sinha P, Wohldmann PE, Cook LL, Hickenbotham MT, Eldred J, Williams D, Jones TA, She X, Ciccarelli FD, Izaurralde E, Taylor J, Schmutz J, Myers RM, Cox DR, Huang X, McPherson JD, Mardis ER, Clifton SW, Warren WC, Chinwalla AT, Eddy SR, Marra MA, Ovcharenko I, Furey TS, Miller W, Eichler EE, Bork P, Suyama M, Torrents D, Waterston RH, Wilson RK: Generation and annotation of the DNA sequences of human chromosomes 2 and 4. Nature. 2005 Apr 7;434(7034):724-31. [PubMed:15815621 ]
  3. Distler M, Biel M, Flockerzi V, Hofmann F: Expression of cyclic nucleotide-gated cation channels in non-sensory tissues and cells. Neuropharmacology. 1994 Nov;33(11):1275-82. [PubMed:7532814 ]
  4. Pittler SJ, Lee AK, Altherr MR, Howard TA, Seldin MF, Hurwitz RL, Wasmuth JJ, Baehr W: Primary structure and chromosomal localization of human and mouse rod photoreceptor cGMP-gated cation channel. J Biol Chem. 1992 Mar 25;267(9):6257-62. [PubMed:1372902 ]
  5. Dhallan RS, Macke JP, Eddy RL, Shows TB, Reed RR, Yau KW, Nathans J: Human rod photoreceptor cGMP-gated channel: amino acid sequence, gene structure, and functional expression. J Neurosci. 1992 Aug;12(8):3248-56. [PubMed:1379636 ]
  6. Dryja TP, Finn JT, Peng YW, McGee TL, Berson EL, Yau KW: Mutations in the gene encoding the alpha subunit of the rod cGMP-gated channel in autosomal recessive retinitis pigmentosa. Proc Natl Acad Sci U S A. 1995 Oct 24;92(22):10177-81. [PubMed:7479749 ]
  7. Zhang Q, Zulfiqar F, Riazuddin SA, Xiao X, Ahmad Z, Riazuddin S, Hejtmancik JF: Autosomal recessive retinitis pigmentosa in a Pakistani family mapped to CNGA1 with identification of a novel mutation. Mol Vis. 2004 Nov 17;10:884-9. [PubMed:15570217 ]