ID GBT1_HUMAN STANDARD; PRT; 349 AA. AC P11488; DT 01-OCT-1989 (Rel. 12, Created) DT 01-OCT-1994 (Rel. 30, Last sequence update) DT 01-OCT-2000 (Rel. 40, Last annotation update) DE GUANINE NUCLEOTIDE-BINDING PROTEIN G(T), ALPHA-1 SUBUNIT (TRANSDUCIN DE ALPHA-1 CHAIN). GN GNAT1. OS Homo sapiens (Human). OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; OC Mammalia; Eutheria; Primates; Catarrhini; Hominidae; Homo. OX NCBI_TaxID=9606; RN [1] RP SEQUENCE FROM N.A. RX MEDLINE=92310988; PubMed=1614872; RA Fong S.-L.; RT "Characterization of the human rod transducin alpha-subunit gene."; RL Nucleic Acids Res. 20:2865-2870(1992). RN [2] RP SEQUENCE FROM N.A. RC TISSUE=RETINA; RX MEDLINE=90380379; PubMed=2534964; RA Lerea C.L., Bunt-Milam A.H., Hurley J.B.; RT "Alpha transducin is present in blue-, green-, and red-sensitive cone RT photoreceptors in the human retina."; RL Neuron 3:367-376(1989). RN [3] RP SEQUENCE FROM N.A. RC TISSUE=EYE; RX MEDLINE=89315237; PubMed=2748346; RA van Dop C., Medynski D.C., Apone L.M.; RT "Nucleotide sequence for a cDNA encoding the alpha subunit of retinal RT transducin (GNAT1) isolated from the human eye."; RL Nucleic Acids Res. 17:4887-4887(1989). RN [4] RP SEQUENCE FROM N.A. RA Nelson J., Gillam B.; RL Submitted (MAY-1997) to the EMBL/GenBank/DDBJ databases. RN [5] RP VARIANT CSNB3 ASP-37. RA Dryja T.P., Hahn L.B., Reboul T., Arnaud B.; RT "Missense mutation in the gene encoding the alpha subunit of rod RT transducin in the Nougaret form of congenital stationary night RT blindness."; RL Nat. Genet. 13:358-365(1996). CC -!- FUNCTION: GUANINE NUCLEOTIDE-BINDING PROTEINS (G PROTEINS) ARE CC INVOLVED AS MODULATORS OR TRANSDUCERS IN VARIOUS TRANSMEMBRANE CC SIGNALING SYSTEMS. CC -!- FUNCTION: TRANSDUCIN IS AN AMPLIFIER AND ONE OF THE TRANSDUCERS OF CC A VISUAL IMPULSE THAT PERFORMS THE COUPLING BETWEEN RHODOPSIN AND CC CGMP-PHOSPHODIESTERASE. CC -!- SUBUNIT: G PROTEINS ARE COMPOSED OF 3 UNITS (ALPHA, BETA & GAMMA). CC THE ALPHA CHAIN CONTAINS THE GUANINE NUCLEOTIDE BINDING SITE. CC -!- TISSUE SPECIFICITY: ROD. CC -!- DISEASE: DEFECTS IN GNAT1 ARE A CAUSE OF CONGENITAL STATIONARY CC NIGHT BLINDNESS (CSNB3). CC -!- SIMILARITY: BELONGS TO THE G-ALPHA FAMILY. SUBFAMILY 1 CC (G(I/O/T/Z)). CC -!- DATABASE: NAME=Mutations of the GNAT1 gene; CC NOTE=Retina International's Scientific Newsletter; CC WWW="http://www.irpa.org/sci-news/gntmut.htm". CC -------------------------------------------------------------------------- CC This SWISS-PROT entry is copyright. It is produced through a collaboration CC between the Swiss Institute of Bioinformatics and the EMBL outstation - CC the European Bioinformatics Institute. There are no restrictions on its CC use by non-profit institutions as long as its content is in no way CC modified and this statement is not removed. Usage by and for commercial CC entities requires a license agreement (See http://www.isb-sib.ch/announce/ CC or send an email to license@isb-sib.ch). CC -------------------------------------------------------------------------- DR EMBL; X15088; CAA33196.1; -. DR EMBL; X63749; -; NOT_ANNOTATED_CDS. DR EMBL; AC002077; AAB54048.1; -. DR PIR; S22953; RGHUT1. DR HSSP; P04695; 1TND. DR MIM; 139330; -. DR MIM; 163500; -. DR INTERPRO; IPR001019; -. DR INTERPRO; IPR001408; -. DR PFAM; PF00503; G-alpha; 1. DR PRINTS; PR00318; GPROTEINA. DR PRINTS; PR00441; GPROTEINAI. KW GTP-binding; Transducer; Vision; Multigene family; ADP-ribosylation; KW Myristate; Disease mutation. FT INIT_MET 0 0 BY SIMILARITY. FT LIPID 1 1 MYRISTATE (BY SIMILARITY). FT NP_BIND 35 42 GTP (BY SIMILARITY). FT NP_BIND 195 198 GTP (BY SIMILARITY). FT NP_BIND 264 267 GTP (BY SIMILARITY). FT MOD_RES 173 173 ADP-RIBOSYL[1] (BY ACTION OF CTX). FT MOD_RES 346 346 ADP-RIBOSYL[1] (BY ACTION OF IAP). FT VARIANT 37 37 G -> D (IN CSNB3; IN THE NOUGARET FT FAMILY DESCENDANTS). FT /FTID=VAR_009279. FT CONFLICT 203 203 R -> P (IN REF. 2 AND 3). FT CONFLICT 223 223 S -> T (IN REF. 2 AND 3). FT CONFLICT 273 273 I -> V (IN REF. 3). FT CONFLICT 330 330 V -> C (IN REF. 3). SQ SEQUENCE 349 AA; 39909 MW; B6B426B2CB4D67A9 CRC64; GAGASAEEKH SRELEKKLKE DAEKDARTVK LLLLGAGESG KSTIVKQMKI IHQDGYSLEE CLEFIAIIYG NTLQSILAIV RAMTTLNIQY GDSARQDDAR KLMHMADTIE EGTMPKEMSD IIQRLWKDSG IQACFERASE YQLNDSAGYY LSDLERLVTP GYVPTEQDVL RSRVKTTGII ETQFSFKDLN FRMFDVGGQR SERKKWIHCF EGVTCIIFIA ALSAYDMVLV EDDEVNRMHE SLHLFNSICN HRYFATTSIV LFLNKKDVFF EKIKKAHLSI CFPDYDGPNT YEDAGNYIKV QFLELNMRRD VKEIYSHMTC ATDTQNVKFV FDAVTDIIIK ENLKDCGLF //