LOCUS       NM_001379270            2926 bp    mRNA    linear   PRI 12-OCT-2024
DEFINITION  Homo sapiens cyclic nucleotide gated channel subunit alpha 1
            (CNGA1), transcript variant 4, mRNA.
ACCESSION   NM_001379270 NM_001375386 XM_017007712
VERSION     NM_001379270.1
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2926)
  AUTHORS   Barret,D.C.A., Schertler,G.F.X., Kaupp,U.B. and Marino,J.
  TITLE     Structural basis of the partially open central gate in the human
            CNGA1/CNGB1 channel explained by additional density for calmodulin
            in cryo-EM map
  JOURNAL   J Struct Biol 214 (1), 107828 (2022)
   PUBMED   34971760
  REMARK    GeneRIF: Structural basis of the partially open central gate in the
            human CNGA1/CNGB1 channel explained by additional density for
            calmodulin in cryo-EM map.
REFERENCE   2  (bases 1 to 2926)
  AUTHORS   Xue,J., Han,Y., Zeng,W. and Jiang,Y.
  TITLE     Structural mechanisms of assembly, permeation, gating, and
            pharmacology of native human rod CNG channel
  JOURNAL   Neuron 110 (1), 86-95 (2022)
   PUBMED   34699778
REFERENCE   3  (bases 1 to 2926)
  AUTHORS   Zhang,Y., Grant,R.A., Shivakumar,M.K., Zaleski,M., Sofoluke,N.,
            Slotkin,J.R., Williams,M.S. and Lee,M.T.M.
  TITLE     Genome-wide Association Analysis Across 16,956 Patients Identifies
            a Novel Genetic Association Between BMP6, NIPAL1, CNGA1 and
            Spondylosis
  JOURNAL   Spine (Phila Pa 1976) 46 (11), E625-E631 (2021)
   PUBMED   33332786
  REMARK    GeneRIF: Genome-wide Association Analysis Across 16,956 Patients
            Identifies a Novel Genetic Association Between BMP6, NIPAL1, CNGA1
            and Spondylosis.
REFERENCE   4  (bases 1 to 2926)
  AUTHORS   Saito,K., Gotoh,N., Kang,I., Shimada,T., Usui,T. and Terao,C.
  TITLE     A case of retinitis pigmentosa homozygous for a rare CNGA1 causal
            variant
  JOURNAL   Sci Rep 11 (1), 4681 (2021)
   PUBMED   33633220
  REMARK    GeneRIF: A case of retinitis pigmentosa homozygous for a rare CNGA1
            causal variant.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 2926)
  AUTHORS   Wang,L., Zou,T., Lin,Y., Li,L., Zhang,P., Gong,B., Hao,J. and
            Zhang,H.
  TITLE     Identification of a novel homozygous variant in the CNGA1 gene in a
            Chinese family with autosomal recessive retinitis pigmentosa
  JOURNAL   Mol Med Rep 22 (3), 2516-2520 (2020)
   PUBMED   32705276
  REMARK    GeneRIF: Identification of a novel homozygous variant in the CNGA1
            gene in a Chinese family with autosomal recessive retinitis
            pigmentosa.
REFERENCE   6  (bases 1 to 2926)
  AUTHORS   Dryja,T.P., Finn,J.T., Peng,Y.W., McGee,T.L., Berson,E.L. and
            Yau,K.W.
  TITLE     Mutations in the gene encoding the alpha subunit of the rod
            cGMP-gated channel in autosomal recessive retinitis pigmentosa
  JOURNAL   Proc Natl Acad Sci U S A 92 (22), 10177-10181 (1995)
   PUBMED   7479749
REFERENCE   7  (bases 1 to 2926)
  AUTHORS   Fahim,A.T., Daiger,S.P. and Weleber,R.G.
  TITLE     Nonsyndromic Retinitis Pigmentosa Overview
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301590
REFERENCE   8  (bases 1 to 2926)
  AUTHORS   Dhallan,R.S., Macke,J.P., Eddy,R.L., Shows,T.B., Reed,R.R.,
            Yau,K.W. and Nathans,J.
  TITLE     Human rod photoreceptor cGMP-gated channel: amino acid sequence,
            gene structure, and functional expression
  JOURNAL   J Neurosci 12 (8), 3248-3256 (1992)
   PUBMED   1379636
REFERENCE   9  (bases 1 to 2926)
  AUTHORS   Pittler,S.J., Lee,A.K., Altherr,M.R., Howard,T.A., Seldin,M.F.,
            Hurwitz,R.L., Wasmuth,J.J. and Baehr,W.
  TITLE     Primary structure and chromosomal localization of human and mouse
            rod photoreceptor cGMP-gated cation channel
  JOURNAL   J Biol Chem 267 (9), 6257-6262 (1992)
   PUBMED   1372902
REFERENCE   10 (bases 1 to 2926)
  AUTHORS   Arsenault,T.V., Sauder,D.N., Harley,C.B. and McKenzie,R.C.
  TITLE     Identification and characterization of a partial cDNA expressing
            interleukin-1-like activity in keratinocytes
  JOURNAL   Mol Immunol 29 (3), 431-438 (1992)
   PUBMED   1372959
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC096749.2 and AC107068.3.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Mar 28, 2020 this sequence version replaced NM_001375386.1.
            
            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.
            Multiple transcript variants have been found for this gene.
            [provided by RefSeq, Oct 2019].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR18074967.1394675.1,
                                           SRR14038192.2530564.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMN04284274 [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            CDS uses downstream in-frame AUG :: upstream AUG and CDS extension
                                                is not conserved
            MANE Ensembl match               :: ENST00000514170.7/
                                                ENSP00000426862.3
            RefSeq Select criteria           :: based on manual assertion,
                                                conservation, expression
            ##RefSeq-Attributes-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-199               AC096749.2         35475-35673         c
            200-299             AC096749.2         29786-29885         c
            300-407             AC096749.2         385-492             c
            408-528             AC107068.3         151379-151499       c
            529-645             AC107068.3         150149-150265       c
            646-708             AC107068.3         148629-148691       c
            709-750             AC107068.3         142167-142208       c
            751-858             AC107068.3         141977-142084       c
            859-966             AC107068.3         140837-140944       c
            967-1073            AC107068.3         139559-139665       c
            1074-2926           AC107068.3         134773-136625       c
FEATURES             Location/Qualifiers
     source          1..2926
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /map="4p12"
     gene            1..2926
                     /gene="CNGA1"
                     /gene_synonym="CNCG; CNCG1; CNG-1; CNG1; RCNC1; RCNCa;
                     RCNCalpha; RP49"
                     /note="cyclic nucleotide gated channel subunit alpha 1"
                     /db_xref="GeneID:1259"
                     /db_xref="HGNC:HGNC:2148"
                     /db_xref="MIM:123825"
     exon            1..199
                     /gene="CNGA1"
                     /gene_synonym="CNCG; CNCG1; CNG-1; CNG1; RCNC1; RCNCa;
                     RCNCalpha; RP49"
                     /inference="alignment:Splign:2.1.0"
     exon            200..299
                     /gene="CNGA1"
                     /gene_synonym="CNCG; CNCG1; CNG-1; CNG1; RCNC1; RCNCa;
                     RCNCalpha; RP49"
                     /inference="alignment:Splign:2.1.0"
     exon            300..407
                     /gene="CNGA1"
                     /gene_synonym="CNCG; CNCG1; CNG-1; CNG1; RCNC1; RCNCa;
                     RCNCalpha; RP49"
                     /inference="alignment:Splign:2.1.0"
     exon            408..528
                     /gene="CNGA1"
                     /gene_synonym="CNCG; CNCG1; CNG-1; CNG1; RCNC1; RCNCa;
                     RCNCalpha; RP49"
                     /inference="alignment:Splign:2.1.0"
     CDS             422..2482
                     /gene="CNGA1"
                     /gene_synonym="CNCG; CNCG1; CNG-1; CNG1; RCNC1; RCNCa;
                     RCNCalpha; RP49"
                     /note="cGMP-gated cation channel alpha-1; CNG channel
                     alpha-1; cyclic nucleotide-gated channel, photoreceptor;
                     cyclic nucleotide-gated cation channel 1; rod
                     photoreceptor cGMP-gated channel subunit alpha;
                     interleukin-1 homologue; cyclic nucleotide gated channel
                     alpha 1; rod photoreceptor cGMP-gated cation channel
                     subunit alpha"
                     /codon_start=1
                     /product="cyclic nucleotide-gated channel alpha-1"
                     /protein_id="NP_001366199.1"
                     /db_xref="CCDS:CCDS43226.2"
                     /db_xref="GeneID:1259"
                     /db_xref="HGNC:HGNC:2148"
                     /db_xref="MIM:123825"
                     /translation="MKNNIINTQQSFVTMPNVIVPDIEKEIRRMENGACSSFSEDDDS
                     ASTSEESENENPHARGSFSYKSLRKGGPSQREQYLPGAIALFNVNNSSNKDQEPEEKK
                     KKKKEKKSKSDDKNENKNDPEKKKKKKDKEKKKKEEKSKDKKEEEKKEVVVIDPSGNT
                     YYNWLFCITLPVMYNWTMVIARACFDELQSDYLEYWLILDYVSDIVYLIDMFVRTRTG
                     YLEQGLLVKEELKLINKYKSNLQFKLDVLSLIPTDLLYFKLGWNYPEIRLNRLLRFSR
                     MFEFFQRTETRTNYPNIFRISNLVMYIVIIIHWNACVFYSISKAIGFGNDTWVYPDIN
                     DPEFGRLARKYVYSLYWSTLTLTTIGETPPPVRDSEYVFVVVDFLIGVLIFATIVGNI
                     GSMISNMNAARAEFQARIDAIKQYMHFRNVSKDMEKRVIKWFDYLWTNKKTVDEKEVL
                     KYLPDKLRAEIAINVHLDTLKKVRIFADCEAGLLVELVLKLQPQVYSPGDYICKKGDI
                     GREMYIIKEGKLAVVADDGVTQFVVLSDGSYFGEISILNIKGSKAGNRRTANIKSIGY
                     SDLFCLSKDDLMEALTEYPDAKTMLEEKGKQILMKDGLLDLNIANAGSDPKDLEEKVT
                     RMEGSVDLLQTRFARILAEYESMQQKLKQRLTKVEKFLKPLIDTEFSSIEGPGAESGP
                     IDST"
     exon            529..645
                     /gene="CNGA1"
                     /gene_synonym="CNCG; CNCG1; CNG-1; CNG1; RCNC1; RCNCa;
                     RCNCalpha; RP49"
                     /inference="alignment:Splign:2.1.0"
     exon            646..708
                     /gene="CNGA1"
                     /gene_synonym="CNCG; CNCG1; CNG-1; CNG1; RCNC1; RCNCa;
                     RCNCalpha; RP49"
                     /inference="alignment:Splign:2.1.0"
     exon            709..750
                     /gene="CNGA1"
                     /gene_synonym="CNCG; CNCG1; CNG-1; CNG1; RCNC1; RCNCa;
                     RCNCalpha; RP49"
                     /inference="alignment:Splign:2.1.0"
     exon            751..858
                     /gene="CNGA1"
                     /gene_synonym="CNCG; CNCG1; CNG-1; CNG1; RCNC1; RCNCa;
                     RCNCalpha; RP49"
                     /inference="alignment:Splign:2.1.0"
     exon            859..966
                     /gene="CNGA1"
                     /gene_synonym="CNCG; CNCG1; CNG-1; CNG1; RCNC1; RCNCa;
                     RCNCalpha; RP49"
                     /inference="alignment:Splign:2.1.0"
     exon            967..1073
                     /gene="CNGA1"
                     /gene_synonym="CNCG; CNCG1; CNG-1; CNG1; RCNC1; RCNCa;
                     RCNCalpha; RP49"
                     /inference="alignment:Splign:2.1.0"
     exon            1074..2926
                     /gene="CNGA1"
                     /gene_synonym="CNCG; CNCG1; CNG-1; CNG1; RCNC1; RCNCa;
                     RCNCalpha; RP49"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2903..2908
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CNGA1"
                     /gene_synonym="CNCG; CNCG1; CNG-1; CNG1; RCNC1; RCNCa;
                     RCNCalpha; RP49"
                     /note="hexamer: AATAAA"
     regulatory      2908..2913
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CNGA1"
                     /gene_synonym="CNCG; CNCG1; CNG-1; CNG1; RCNC1; RCNCa;
                     RCNCalpha; RP49"
                     /note="hexamer: AGTAAA"
     polyA_site      2923
                     /gene="CNGA1"
                     /gene_synonym="CNCG; CNCG1; CNG-1; CNG1; RCNC1; RCNCa;
                     RCNCalpha; RP49"
                     /note="major polyA site"
     polyA_site      2926
                     /gene="CNGA1"
                     /gene_synonym="CNCG; CNCG1; CNG-1; CNG1; RCNC1; RCNCa;
                     RCNCalpha; RP49"
                     /note="major polyA site"
ORIGIN      
        1 agcgccagcc gagccctgct gcccggggct tgttgcgaat tctcagggcc cccgcaggcc
       61 tgggagcggc ctgtgataac tggtgtatct ggcaggagta gcagctgccc cttggcgcga
      121 ctgctggagc cgcgaactag agaaacacag acacgcctca tagagcaaca gcgtctctcg
      181 gagcgtggag cccgccaagc tcgagctgag ctttcgcttg ccgtccacca ctgcccacca
      241 ctgtcgtttg ctgccatcgc agacctgctg ctgacttcca tccctctgga tccggcaagg
      301 gcctggattt tgacaatgtc aagatttacc gtatatccct gtttgtttgg atacaccagt
      361 gacgtccact tctagaagac aaagttatat tacttaaaca accaaagata tgaaactatc
      421 catgaagaac aatattatca atacacagca gtcttttgta accatgccca atgtgattgt
      481 accagatatt gaaaaggaaa tacgaaggat ggaaaatgga gcatgcagct ccttttctga
      541 ggatgatgac agtgcctcta catctgaaga atcagagaat gaaaaccctc atgcaagggg
      601 ttcctttagt tataagtcac tcagaaaggg aggaccatca cagagggagc agtacctgcc
      661 tggtgccatt gcacttttta atgtgaacaa cagcagcaat aaggaccagg aaccagaaga
      721 aaaaaagaaa aagaaaaaag aaaagaagag caagtcagat gataaaaacg aaaataaaaa
      781 cgacccagag aagaaaaaga agaaaaagga caaagagaag aaaaagaaag aggagaaaag
      841 caaagataag aaagaagagg agaagaaaga agttgtggtt attgatccct cgggaaacac
      901 atattacaac tggctgtttt gcatcacatt acctgttatg tacaactgga caatggttat
      961 tgccagagca tgttttgatg aacttcaatc tgattaccta gaatattggc tcattttgga
     1021 ttacgtatca gacatagtct atttaatcga tatgtttgta cgaacaagga caggttacct
     1081 agaacaagga ctgctggtaa aggaagaact taaactcata aataaatata aatccaactt
     1141 gcaatttaaa cttgatgttc tgtcactgat accaactgat ttgctgtatt ttaagttagg
     1201 gtggaactat ccagaaatta gattaaacag gttgttacgg ttctctcgta tgtttgagtt
     1261 cttccagaga acagaaacaa ggacaaacta tccaaacatc ttcaggattt ccaaccttgt
     1321 tatgtatatc gtcatcatta tccactggaa tgcatgtgtg ttctactcta tttctaaagc
     1381 tattggattt ggaaatgata catgggtcta ccctgatatt aatgatcctg aatttggccg
     1441 tttggctaga aaatacgtat acagccttta ctggtctaca ctgactttga ctaccattgg
     1501 tgaaacaccc cctcccgtga gggattctga gtatgtcttt gtggtggttg atttcctaat
     1561 tggagtgtta atttttgcta ccatcgttgg taacataggt tctatgattt ccaacatgaa
     1621 tgcagccaga gcagaatttc aagcaagaat tgatgctatc aagcaatata tgcattttcg
     1681 aaatgtaagc aaagatatgg aaaagagggt tattaaatgg tttgactacc tgtggaccaa
     1741 caaaaaaaca gttgatgaga aagaagtctt aaagtatcta cctgataaac taagagcaga
     1801 aattgccatc aacgttcact tagacacatt aaaaaaggta cgcatttttg ctgattgtga
     1861 agctggtctg ttggtggagt tggtcttgaa attgcaaccc caagtctaca gtcctggaga
     1921 ttatatttgc aagaaagggg atatcggacg agagatgtac attatcaagg aaggcaaact
     1981 cgctgtggtg gcagatgatg gagtcactca gtttgtggta ttgagcgatg gcagctactt
     2041 cggtgagatc agcattctta acattaaagg gagcaaagct ggcaatcgaa gaacggccaa
     2101 tattaaaagt attggctact cagacctgtt ctgtctctca aaagatgacc tcatggaagc
     2161 tctaactgag tacccagatg ccaaaactat gctggaagag aaagggaagc agattttaat
     2221 gaaagatggt ctactggatc taaacattgc aaatgctggc agtgatccta aagatcttga
     2281 agagaaggtt actcgaatgg aggggtcagt agacctcctg caaaccaggt ttgcccgaat
     2341 cttggctgag tatgagtcca tgcagcagaa actgaaacaa agattaacca aggttgagaa
     2401 atttctgaaa ccgcttattg acacagaatt ttcaagtatt gagggacctg gagcggaaag
     2461 tgggcccatc gactctacat agaaccgaaa agctggtcat taacagggac atgcctcatg
     2521 atccttttga tcctatgact gacatcaact aaaatttaaa agaagaggaa gactcagttg
     2581 ggaaattttt ccatgaggaa aatgtgcttt ggtgcaaggt acaaggccca caccctctct
     2641 gagagatact atgattaaaa aagctttata tcttgggatt tttcacaact gataatgtgc
     2701 aaagatataa actgattaac ttgtcagtgt ctgtattttc tgattttttc acatacgctc
     2761 attttatgta atattcttca taaaaatgaa taagtagccc tcactttcat gccatttcca
     2821 ttgttgagtg aagcgtattt gaagtaactg agaattacca tgtacatcat atttgggata
     2881 acatttttaa aaattagact gcaataaagt aaaattaatt atgcaa
//
