CRGA_HUMAN
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 03-AUG-2022, entry version 174.
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; P11844; -.
DR PeptideAtlas; P11844; -.
DR PRIDE; P11844; -.
DR ProteomicsDB; 52808; -.
DR Antibodypedia; 54429; 18 antibodies from 11 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 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; TEDCPCI; -.
DR OrthoDB; 1220704at2759; -.
DR PhylomeDB; P11844; -.
DR PathwayCommons; P11844; -.
DR SignaLink; P11844; -.
DR BioGRID-ORCS; 1418; 10 hits in 1069 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 Brodmann (1909) area 9 and 31 other tissues.
DR ExpressionAtlas; P11844; baseline and differential.
DR Genevisible; P11844; HS.
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 InterPro; IPR001064; Beta/gamma_crystallin.
DR InterPro; IPR011024; G_crystallin-like.
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 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; unknown pathological significance;
FT 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; unknown pathological 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
