ID CRGA_HUMAN Reviewed; 174 AA. AC P11844; Q53ST5; DT 01-OCT-1989, integrated into UniProtKB/Swiss-Prot. DT 29-MAY-2007, sequence version 3. DT 11-NOV-2015, entry version 138. DE RecName: Full=Gamma-crystallin A; DE AltName: Full=Gamma-A-crystallin; DE AltName: Full=Gamma-crystallin 5; GN Name=CRYGA; Synonyms=CRYG1; OS Homo sapiens (Human). OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; OC Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; OC Catarrhini; Hominidae; Homo. OX NCBI_TaxID=9606; RN [1] RP NUCLEOTIDE SEQUENCE [GENOMIC DNA], AND VARIANT LEU-148. RX PubMed=3670288; RA Meakin S.O., Du R.P., Tsui L.-C., Breitman M.L.; RT "Gamma-crystallins of the human eye lens: expression analysis of five RT members of the gene family."; RL Mol. Cell. Biol. 7:2671-2679(1987). RN [2] RP NUCLEOTIDE SEQUENCE [MRNA]. RC TISSUE=Lens; RA Wistow G.; RT "Human gammaA-crystallin."; RL Submitted (FEB-2007) to the EMBL/GenBank/DDBJ databases. RN [3] RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. RX PubMed=15815621; DOI=10.1038/nature03466; RA Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., RA Minx P., Wagner-McPherson C., Layman D., Wylie K., Sekhon M., RA Becker M.C., Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., RA Kremitzki C., Oddy L., Du H., Sun H., Bradshaw-Cordum H., Ali J., RA Carter J., Cordes M., Harris A., Isak A., van Brunt A., Nguyen C., RA Du F., Courtney L., Kalicki J., Ozersky P., Abbott S., Armstrong J., RA Belter E.A., Caruso L., Cedroni M., Cotton M., Davidson T., Desai A., RA Elliott G., Erb T., Fronick C., Gaige T., Haakenson W., Haglund K., RA Holmes A., Harkins R., Kim K., Kruchowski S.S., Strong C.M., RA Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K., RA McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C., RA Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N., RA Swearengen-Shahid S., Snider J., Strong J.T., Thompson J., Yoakum M., RA Leonard S., Pearman C., Trani L., Radionenko M., Waligorski J.E., RA Wang C., Rock S.M., Tin-Wollam A.-M., Maupin R., Latreille P., RA Wendl M.C., Yang S.-P., Pohl C., Wallis J.W., Spieth J., Bieri T.A., RA Berkowicz N., Nelson J.O., Osborne J., Ding L., Meyer R., Sabo A., RA Shotland Y., Sinha P., Wohldmann P.E., Cook L.L., Hickenbotham M.T., RA Eldred J., Williams D., Jones T.A., She X., Ciccarelli F.D., RA Izaurralde E., Taylor J., Schmutz J., Myers R.M., Cox D.R., Huang X., RA McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C., RA Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S., RA Miller W., Eichler E.E., Bork P., Suyama M., Torrents D., RA Waterston R.H., Wilson R.K.; RT "Generation and annotation of the DNA sequences of human chromosomes 2 RT and 4."; RL Nature 434:724-731(2005). RN [4] RP 3D-STRUCTURE MODELING. RX PubMed=12507494; DOI=10.1016/S0006-291X(02)02895-4; RA Salim A., Zaidi Z.H.; RT "Homology models of human gamma-crystallins: structural study of the RT extensive charge network in gamma-crystallins."; RL Biochem. Biophys. Res. Commun. 300:624-630(2003). RN [5] RP VARIANT LEU-148. RX PubMed=12011157; DOI=10.1136/jmg.39.5.352; RA Santhiya S.T., Shyam Manohar M., Rawlley D., Vijayalakshmi P., RA Namperumalsamy P., Gopinath P.M., Loester J., Graw J.; RT "Novel mutations in the gamma-crystallin genes cause autosomal RT dominant congenital cataracts."; RL J. Med. Genet. 39:352-358(2002). CC -!- FUNCTION: Crystallins are the dominant structural components of CC the vertebrate eye lens. CC -!- SUBUNIT: Monomer. {ECO:0000250}. CC -!- DOMAIN: Has a two-domain beta-structure, folded into four very CC similar Greek key motifs. CC -!- SIMILARITY: Belongs to the beta/gamma-crystallin family. CC {ECO:0000305}. CC -!- SIMILARITY: Contains 4 beta/gamma crystallin 'Greek key' domains. CC {ECO:0000255|PROSITE-ProRule:PRU00028}. CC --------------------------------------------------------------------------- CC Copyrighted by the UniProt Consortium, see https://www.uniprot.org/terms CC Distributed under the Creative Commons Attribution (CC BY 4.0) License CC --------------------------------------------------------------------------- DR EMBL; M17316; AAA52108.1; -; Genomic_DNA. DR EMBL; M17315; AAA52108.1; JOINED; Genomic_DNA. DR EMBL; EF426311; ABO14696.1; -; mRNA. DR EMBL; AC016697; AAX93220.1; -; Genomic_DNA. DR CCDS; CCDS33367.1; -. DR PIR; A26912; A26912. DR RefSeq; NP_055432.2; NM_014617.3. DR UniGene; Hs.122566; -. DR PDB; 1LER; Model; -; A=1-174. DR PDBsum; 1LER; -. DR ProteinModelPortal; P11844; -. DR SMR; P11844; 2-174. DR BioGrid; 107808; 1. DR STRING; 9606.ENSP00000302105; -. DR PhosphoSite; P11844; -. DR BioMuta; CRYGA; -. DR DMDM; 148887193; -. DR PaxDb; P11844; -. DR PRIDE; P11844; -. DR Ensembl; ENST00000304502; ENSP00000302105; ENSG00000168582. DR GeneID; 1418; -. DR KEGG; hsa:1418; -. DR UCSC; uc002vcq.4; human. DR CTD; 1418; -. DR GeneCards; CRYGA; -. DR HGNC; HGNC:2408; CRYGA. DR MIM; 123660; gene. DR neXtProt; NX_P11844; -. DR PharmGKB; PA26915; -. DR eggNOG; ENOG410IWCR; Eukaryota. DR eggNOG; ENOG411298R; LUCA. DR GeneTree; ENSGT00760000118812; -. DR HOGENOM; HOG000234389; -. DR HOVERGEN; HBG003364; -. DR InParanoid; P11844; -. DR OMA; SCRAIPY; -. DR OrthoDB; EOG70CR7Z; -. DR PhylomeDB; P11844; -. DR GeneWiki; CRYGA; -. DR GenomeRNAi; 1418; -. DR NextBio; 5799; -. DR PRO; PR:P11844; -. DR Proteomes; UP000005640; Chromosome 2. DR Bgee; P11844; -. DR CleanEx; HS_CRYGA; -. DR Genevisible; P11844; HS. DR GO; GO:0005212; F:structural constituent of eye lens; NAS:UniProtKB. DR GO; GO:0002088; P:lens development in camera-type eye; IEA:Ensembl. DR GO; GO:0007601; P:visual perception; NAS:UniProtKB. DR InterPro; IPR001064; Beta/gamma_crystallin. DR InterPro; IPR011024; G_crystallin-rel. DR Pfam; PF00030; Crystall; 2. DR PRINTS; PR01367; BGCRYSTALLIN. DR SMART; SM00247; XTALbg; 2. DR SUPFAM; SSF49695; SSF49695; 1. DR PROSITE; PS50915; CRYSTALLIN_BETA_GAMMA; 4. PE 2: Evidence at transcript level; KW 3D-structure; Complete proteome; Eye lens protein; Polymorphism; KW Reference proteome; Repeat. FT INIT_MET 1 1 Removed. {ECO:0000250|UniProtKB:P02527}. FT CHAIN 2 174 Gamma-crystallin A. FT /FTId=PRO_0000057585. FT DOMAIN 2 40 Beta/gamma crystallin 'Greek key' 1. FT {ECO:0000255|PROSITE-ProRule:PRU00028}. FT DOMAIN 41 83 Beta/gamma crystallin 'Greek key' 2. FT {ECO:0000255|PROSITE-ProRule:PRU00028}. FT DOMAIN 88 128 Beta/gamma crystallin 'Greek key' 3. FT {ECO:0000255|PROSITE-ProRule:PRU00028}. FT DOMAIN 129 171 Beta/gamma crystallin 'Greek key' 4. FT {ECO:0000255|PROSITE-ProRule:PRU00028}. FT REGION 84 87 Connecting peptide. FT VARIANT 148 148 P -> L. {ECO:0000269|PubMed:12011157, FT ECO:0000269|PubMed:3670288}. FT /FTId=VAR_021139. SQ SEQUENCE 174 AA; 20877 MW; 99889A7641728090 CRC64; MGKITFYEDR DFQGRCYNCI SDCPNLRVYF SRCNSIRVDS GCWMLYERPN YQGHQYFLRR GKYPDYQHWM GLSDSVQSCR IIPHTSSHKL RLYERDDYRG LMSELTDDCA CVPELFRLPE IYSLHVLEGC WVLYEMPNYR GRQYLLRPGD YRRYHDWGGA DAKVGSLRRV TDLY //