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   29-MAY-2024, entry version 184.
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; Mammalia;
OC   Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC   Homo.
OX   NCBI_TaxID=9606;
RN   [1]
RP   NUCLEOTIDE SEQUENCE [GENOMIC DNA], AND VARIANT LEU-148.
RX   PubMed=3670288; DOI=10.1128/mcb.7.8.2671-2679.1987;
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., Minx P.,
RA   Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C.,
RA   Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L.,
RA   Du H., Sun H., Bradshaw-Cordum H., Ali J., Carter J., Cordes M., Harris A.,
RA   Isak A., van Brunt A., Nguyen C., Du F., Courtney L., Kalicki J.,
RA   Ozersky P., Abbott S., Armstrong J., Belter E.A., Caruso L., Cedroni M.,
RA   Cotton M., Davidson T., Desai A., Elliott G., Erb T., Fronick C., Gaige T.,
RA   Haakenson W., Haglund K., Holmes A., Harkins R., Kim K., Kruchowski S.S.,
RA   Strong C.M., 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., Swearengen-Shahid S.,
RA   Snider J., Strong J.T., Thompson J., Yoakum M., Leonard S., Pearman C.,
RA   Trani L., Radionenko M., Waligorski J.E., Wang C., Rock S.M.,
RA   Tin-Wollam A.-M., Maupin R., Latreille P., Wendl M.C., Yang S.-P., Pohl C.,
RA   Wallis J.W., Spieth J., Bieri T.A., Berkowicz N., Nelson J.O., Osborne J.,
RA   Ding L., Meyer R., Sabo A., Shotland Y., Sinha P., Wohldmann P.E.,
RA   Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Jones T.A., She X.,
RA   Ciccarelli F.D., Izaurralde E., Taylor J., Schmutz J., Myers R.M.,
RA   Cox D.R., Huang X., 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., Waterston R.H.,
RA   Wilson R.K.;
RT   "Generation and annotation of the DNA sequences of human chromosomes 2 and
RT   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 dominant
RT   congenital cataracts.";
RL   J. Med. Genet. 39:352-358(2002).
RN   [6]
RP   VARIANT HIS-80.
RX   PubMed=28839118; DOI=10.1534/g3.117.300109;
RA   Javadiyan S., Craig J.E., Souzeau E., Sharma S., Lower K.M., Mackey D.A.,
RA   Staffieri S.E., Elder J.E., Taranath D., Straga T., Black J., Pater J.,
RA   Casey T., Hewitt A.W., Burdon K.P.;
RT   "High-Throughput Genetic Screening of 51 Pediatric Cataract Genes
RT   Identifies Causative Mutations in Inherited Pediatric Cataract in South
RT   Eastern Australia.";
RL   G3 (Bethesda) 7:3257-3268(2017).
RN   [7]
RP   VARIANT CYS-40.
RX   PubMed=33243271; DOI=10.1186/s13023-020-01613-3;
RA   Berry V., Ionides A., Pontikos N., Georgiou M., Yu J., Ocaka L.A.,
RA   Moore A.T., Quinlan R.A., Michaelides M.;
RT   "The genetic landscape of crystallins in congenital cataract.";
RL   Orphanet J. Rare Dis. 15:333-333(2020).
CC   -!- FUNCTION: Crystallins are the dominant structural components of the
CC       vertebrate eye lens.
CC   -!- SUBUNIT: Monomer. {ECO:0000250}.
CC   -!- DOMAIN: Has a two-domain beta-structure, folded into four very similar
CC       Greek key motifs.
CC   -!- SIMILARITY: Belongs to the beta/gamma-crystallin family. {ECO:0000305}.
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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   AlphaFoldDB; P11844; -.
DR   SMR; P11844; -.
DR   BioGRID; 107808; 5.
DR   STRING; 9606.ENSP00000302105; -.
DR   BioMuta; CRYGA; -.
DR   DMDM; 148887193; -.
DR   MassIVE; P11844; -.
DR   PaxDb; 9606-ENSP00000302105; -.
DR   PeptideAtlas; P11844; -.
DR   ProteomicsDB; 52808; -.
DR   Antibodypedia; 54429; 24 antibodies from 12 providers.
DR   DNASU; 1418; -.
DR   Ensembl; ENST00000304502.5; ENSP00000302105.4; ENSG00000168582.5.
DR   GeneID; 1418; -.
DR   KEGG; hsa:1418; -.
DR   MANE-Select; ENST00000304502.5; ENSP00000302105.4; NM_014617.4; NP_055432.2.
DR   UCSC; uc002vcq.5; human.
DR   AGR; HGNC:2408; -.
DR   CTD; 1418; -.
DR   DisGeNET; 1418; -.
DR   GeneCards; CRYGA; -.
DR   HGNC; HGNC:2408; CRYGA.
DR   HPA; ENSG00000168582; Not detected.
DR   MIM; 123660; gene.
DR   neXtProt; NX_P11844; -.
DR   OpenTargets; ENSG00000168582; -.
DR   PharmGKB; PA26915; -.
DR   VEuPathDB; HostDB:ENSG00000168582; -.
DR   eggNOG; ENOG502RXJY; Eukaryota.
DR   GeneTree; ENSGT00940000156190; -.
DR   HOGENOM; CLU_081883_1_1_1; -.
DR   InParanoid; P11844; -.
DR   OMA; HEIHSLH; -.
DR   OrthoDB; 3998747at2759; -.
DR   PhylomeDB; P11844; -.
DR   PathwayCommons; P11844; -.
DR   SignaLink; P11844; -.
DR   BioGRID-ORCS; 1418; 11 hits in 1147 CRISPR screens.
DR   GeneWiki; CRYGA; -.
DR   GenomeRNAi; 1418; -.
DR   Pharos; P11844; Tdark.
DR   PRO; PR:P11844; -.
DR   Proteomes; UP000005640; Chromosome 2.
DR   RNAct; P11844; Protein.
DR   Bgee; ENSG00000168582; Expressed in male germ line stem cell (sensu Vertebrata) in testis and 27 other cell types or tissues.
DR   ExpressionAtlas; P11844; baseline and differential.
DR   GO; GO:0005212; F:structural constituent of eye lens; IBA:GO_Central.
DR   GO; GO:0002088; P:lens development in camera-type eye; IBA:GO_Central.
DR   GO; GO:0007601; P:visual perception; IBA:GO_Central.
DR   Gene3D; 2.60.20.10; Crystallins; 2.
DR   InterPro; IPR001064; Beta/gamma_crystallin.
DR   InterPro; IPR011024; G_crystallin-like.
DR   PANTHER; PTHR11818; BETA/GAMMA CRYSTALLIN; 1.
DR   PANTHER; PTHR11818:SF132; GAMMA-CRYSTALLIN A; 1.
DR   Pfam; PF00030; Crystall; 2.
DR   PRINTS; PR01367; BGCRYSTALLIN.
DR   SMART; SM00247; XTALbg; 2.
DR   SUPFAM; SSF49695; gamma-Crystallin-like; 1.
DR   PROSITE; PS50915; CRYSTALLIN_BETA_GAMMA; 4.
PE   2: Evidence at transcript level;
KW   Eye lens protein; Reference proteome; Repeat.
FT   CHAIN           1..174
FT                   /note="Gamma-crystallin A"
FT                   /id="PRO_0000057585"
FT   DOMAIN          2..40
FT                   /note="Beta/gamma crystallin 'Greek key' 1"
FT                   /evidence="ECO:0000255|PROSITE-ProRule:PRU00028"
FT   DOMAIN          41..83
FT                   /note="Beta/gamma crystallin 'Greek key' 2"
FT                   /evidence="ECO:0000255|PROSITE-ProRule:PRU00028"
FT   DOMAIN          88..128
FT                   /note="Beta/gamma crystallin 'Greek key' 3"
FT                   /evidence="ECO:0000255|PROSITE-ProRule:PRU00028"
FT   DOMAIN          129..171
FT                   /note="Beta/gamma crystallin 'Greek key' 4"
FT                   /evidence="ECO:0000255|PROSITE-ProRule:PRU00028"
FT   REGION          84..87
FT                   /note="Connecting peptide"
FT   VARIANT         40
FT                   /note="S -> C (found in a patient with congenital bilateral
FT                   cataract; uncertain significance; dbSNP:rs371745828)"
FT                   /evidence="ECO:0000269|PubMed:33243271"
FT                   /id="VAR_084796"
FT   VARIANT         80
FT                   /note="R -> H (found in a patient with congenital pediatric
FT                   onset cataracts; uncertain significance;
FT                   dbSNP:rs139353014)"
FT                   /evidence="ECO:0000269|PubMed:28839118"
FT                   /id="VAR_084797"
FT   VARIANT         148
FT                   /note="P -> L (in dbSNP:rs763049410)"
FT                   /evidence="ECO:0000269|PubMed:12011157,
FT                   ECO:0000269|PubMed:3670288"
FT                   /id="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
//