(data stored in ACNUC17706 zone)

HOGENOM: HS4_PE1122

ID   HS4_PE1122                           STANDARD;      PRT;   759 AA.
AC   HS4_PE1122; P29973; A8K7K6; Q16279; Q16485;
DT   00-JAN-0000 (Rel. 1, Created)
DT   00-JAN-0000 (Rel. 2, Last sequence update)
DT   00-JAN-0000 (Rel. 3, Last annotation update)
DE   RecName: Full=cGMP-gated cation channel alpha-1;AltName: Full=Cyclic
DE   nucleotide-gated cation channel 1;AltName: Full=Cyclic nucleotide-gated
DE   channel alpha-1; Short=CNG channel alpha-1; Short=CNG-1;
DE   Short=CNG1;AltName: Full=Cyclic nucleotide-gated channel,
DE   photoreceptor;AltName: Full=Rod photoreceptor cGMP-gated channel subunit
DE   alpha; (HS4.PE1122).
GN   Name=CNGA1; Synonyms=CNCG, CNCG1;
OS   HOMO SAPIENS.
OC   Eukaryota; Metazoa; Eumetazoa; Bilateria; Coelomata; Deuterostomia;
OC   Chordata; Craniata; Vertebrata; Gnathostomata; Teleostomi; Euteleostomi;
OC   Sarcopterygii; Tetrapoda; Amniota; Mammalia; Theria; Eutheria;
OC   Euarchontoglires; Primates; Haplorrhini; Simiiformes; Catarrhini;
OC   Hominoidea; Hominidae; Homininae; Homo.
OX   NCBI_TaxID=9606;
RN   [0]
RP   -.;
RG   -.;
RL   -.;
CC   -!- SEQ. DATA ORIGIN: Translated from the HOGENOM CDS HS4.PE1122.
CC       Homo sapiens chromosome 4 GRCh37  sequence 1..191044276 annotated by
CC       Ensembl
CC   -!- ANNOTATIONS ORIGIN:CNGA1_HUMAN
CC   -!- FUNCTION: Visual signal transduction is mediated by a G-protein
CC       coupled cascade using cGMP as second messenger. This protein can
CC       be activated by cyclic GMP which leads to an opening of the cation
CC       channel and thereby causing a depolarization of rod
CC       photoreceptors.
CC   -!- SUBUNIT: Homotetramer or higher oligomer. Forms heterooligomeric
CC       complex with CNG4.
CC   -!- SUBCELLULAR LOCATION: Membrane; Multi-pass membrane protein.
CC   -!- TISSUE SPECIFICITY: Rod cells in the retina.
CC   -!- DISEASE: Defects in CNGA1 are the cause of retinitis pigmentosa
CC       type 49 (RP49) [MIM:613756]. RP leads to degeneration of retinal
CC       photoreceptor cells. Patients typically have night vision
CC       blindness and loss of midperipheral visual field. As their
CC       condition progresses, they lose their far peripheral visual field
CC       and eventually central vision as well.
CC   -!- SIMILARITY: Belongs to the cyclic nucleotide-gated cation channel
CC       (TC 1.A.1.5) family. CNGA1 subfamily.
CC   -!- SIMILARITY: Contains 1 cyclic nucleotide-binding domain.
CC   -!- CAUTION: It is uncertain whether Met-1 or Met-5 is the initiator.
CC   -!- SEQUENCE CAUTION:
CC       Sequence=AAB22778.1; Type=Erroneous initiation;
CC   -!- WEB RESOURCE: Name=Mutations of the CNGA1 gene; Note=Retina
CC       International's Scientific Newsletter;
CC       URL="http://www.retina-international.com/sci-news/cnga1mut.htm";
CC   -!- WEB RESOURCE: Name=GeneReviews;
CC       URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/CNGA1";
CC   -!- GENE_FAMILY: HOG000007898 [ FAMILY / ALN / TREE ]
DR   HOGENOM:Homo_sapiens;ENSG00000198515;ENST00000402813;ENSP00000384264.
DR   EMBL; AC096749; - ;
DR   EMBL; AC107068; - ;
DR   EMBL; AK292021; - ;
DR   EMBL; CH471069; - ;
DR   EMBL; M84741; - ;
DR   EMBL; S42457; - ;
DR   EMBL; S76062; - ;
DR   EMBL; X64802; - ;
DR   UniProtKB/Swiss-Prot; P29973; A8K7K6; Q16279; Q16485; -.
DR   EMBL; M84741; AAA52010.1; -; mRNA.
DR   EMBL; S42457; AAB22778.1; ALT_INIT; mRNA.
DR   EMBL; AK292021; BAF84710.1; -; mRNA.
DR   EMBL; AC107068; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR   EMBL; S76062; AAD14206.1; -; Genomic_DNA.
DR   IPI; IPI00218428; -.
DR   PIR; A42161; A42161.
DR   RefSeq; NP_000078.2; NM_000087.3.
DR   RefSeq; NP_001136036.1; NM_001142564.1.
DR   UniGene; Hs.1323; -.
DR   ProteinModelPortal; P29973; -.
DR   SMR; P29973; 349-397, 404-605.
DR   STRING; P29973; -.
DR   TCDB; 1.A.1.5.3; voltage-gated ion channel (VIC) superfamily.
DR   PhosphoSite; P29973; -.
DR   PRIDE; P29973; -.
DR   Ensembl; ENST00000358519; ENSP00000351320; ENSG00000198515.
DR   Ensembl; ENST00000402813; ENSP00000384264; ENSG00000198515.
DR   GeneID; 1259; -.
DR   KEGG; hsa:1259; -.
DR   UCSC; uc003gxt.2; human.
DR   CTD; 1259; -.
DR   GeneCards; GC04M047257; -.
DR   H-InvDB; HIX0031590; -.
DR   HGNC; HGNC:2148; CNGA1.
DR   MIM; 123825; gene.
DR   MIM; 613756; phenotype.
DR   neXtProt; NX_P29973; -.
DR   Orphanet; 791; Retinitis pigmentosa.
DR   PharmGKB; PA26658; -.
DR   eggNOG; prNOG08997; -.
DR   InParanoid; P29973; -.
DR   Pathway_Interaction_DB; rhodopsin_pathway; Visual signal transduction: Rods.
DR   NextBio; 5093; -.
DR   ArrayExpress; P29973; -.
DR   Bgee; P29973; -.
DR   CleanEx; HS_CNGA1; -.
DR   Genevestigator; P29973; -.
DR   GermOnline; ENSG00000198515; Homo sapiens.
DR   GO; GO:0005887; C:integral to plasma membrane; TAS:ProtInc.
DR   GO; GO:0030553; F:cGMP binding; IEA:UniProtKB-KW.
DR   GO; GO:0005216; F:ion channel activity; IEA:UniProtKB-KW.
DR   GO; GO:0050896; P:response to stimulus; IEA:UniProtKB-KW.
DR   GO; GO:0007601; P:visual perception; TAS:ProtInc.
DR   InterPro; IPR018490; cNMP-bd-like.
DR   InterPro; IPR018488; cNMP-bd_CS.
DR   InterPro; IPR000595; cNMP-bd_dom.
DR   InterPro; IPR005821; Ion_trans.
DR   InterPro; IPR014710; RmlC-like_jellyroll.
DR   Gene3D; G3DSA:2.60.120.10; RmlC-like_jellyroll; 1.
DR   Pfam; PF00027; cNMP_binding; 1.
DR   Pfam; PF00520; Ion_trans; 1.
DR   SMART; SM00100; cNMP; 1.
DR   SUPFAM; SSF51206; cNMP_binding; 1.
DR   PROSITE; PS00888; CNMP_BINDING_1; 1.
DR   PROSITE; PS00889; CNMP_BINDING_2; 1.
DR   PROSITE; PS50042; CNMP_BINDING_3; 1.
DR   HOGENOMDNA; HS4.PE1122; -.
KW   ENSG000001985151755old_1320000031; ENSP000003842647901old_1320000031;
KW   D6R978_HUMAN; D6RCF1_HUMAN; Q08124_HUMAN; Q4W5E3_HUMAN; AC096749;
KW   AK292021; CH471069; M84741; S42457; S76062; X64802;
KW   cGMP; cGMP-binding; Complete proteome; Disease mutation; Glycoprotein;
KW   Ion transport; Ionic channel; Ligand-gated ion channel; Membrane;
KW   Nucleotide-binding; Polymorphism; Reference proteome;
KW   Retinitis pigmentosa; Sensory transduction; Transmembrane;
KW   Transmembrane helix; Transport; Vision.
SQ   SEQUENCE   759 AA;  UNKNOWN MW;  UNKNOWN CRC64;
     MESRSSPRLE CSGAISAHCS LHLPDSSDFQ LIFVFLVEMG FHHVGQAGLE LLISSDLPTS
     ASQSAGITDM KLSMKNNIIN TQQSFVTMPN VIVPDIEKEI RRMENGACSS FSEDDDSAST
     SEESENENPH ARGSFSYKSL RKGGPSQREQ YLPGAIALFN VNNSSNKDQE PEEKKKKKKE
     KKSKSDDKNE NKNDPEKKKK KKDKEKKKKE EKSKDKKEEE KKEVVVIDPS GNTYYNWLFC
     ITLPVMYNWT MVIARACFDE LQSDYLEYWL ILDYVSDIVY LIDMFVRTRT GYLEQGLLVK
     EELKLINKYK SNLQFKLDVL SLIPTDLLYF KLGWNYPEIR LNRLLRFSRM FEFFQRTETR
     TNYPNIFRIS NLVMYIVIII HWNACVFYSI SKAIGFGNDT WVYPDINDPE FGRLARKYVY
     SLYWSTLTLT TIGETPPPVR DSEYVFVVVD FLIGVLIFAT IVGNIGSMIS NMNAARAEFQ
     ARIDAIKQYM HFRNVSKDME KRVIKWFDYL WTNKKTVDEK EVLKYLPDKL RAEIAINVHL
     DTLKKVRIFA DCEAGLLVEL VLKLQPQVYS PGDYICKKGD IGREMYIIKE GKLAVVADDG
     VTQFVVLSDG SYFGEISILN IKGSKAGNRR TANIKSIGYS DLFCLSKDDL MEALTEYPDA
     KTMLEEKGKQ ILMKDGLLDL NIANAGSDPK DLEEKVTRME GSVDLLQTRF ARILAEYESM
     QQKLKQRLTK VEKFLKPLID TEFSSIEGPG AESGPIDST
//

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