CRYGS_HUMAN
ID CRYGS_HUMAN Reviewed; 178 AA.
AC P22914; B2RAF8;
DT 01-AUG-1991, integrated into UniProtKB/Swiss-Prot.
DT 23-JAN-2007, sequence version 4.
DT 03-AUG-2022, entry version 197.
DE RecName: Full=Gamma-crystallin S;
DE AltName: Full=Beta-crystallin S;
DE AltName: Full=Gamma-S-crystallin;
GN Name=CRYGS; Synonyms=CRYG8;
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 [LARGE SCALE MRNA].
RC TISSUE=Thymus;
RX PubMed=14702039; DOI=10.1038/ng1285;
RA Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
RA Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
RA Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
RA Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
RA Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H.,
RA Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M.,
RA Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K.,
RA Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T.,
RA Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M.,
RA Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S.,
RA Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H.,
RA Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K.,
RA Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N.,
RA Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
RA Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
RA Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
RA Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
RA Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y.,
RA Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K.,
RA Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T.,
RA Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T.,
RA Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y.,
RA Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H.,
RA Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y.,
RA Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H.,
RA Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O.,
RA Isogai T., Sugano S.;
RT "Complete sequencing and characterization of 21,243 full-length human
RT cDNAs.";
RL Nat. Genet. 36:40-45(2004).
RN [2]
RP PRELIMINARY PROTEIN SEQUENCE OF 2-178, CLEAVAGE OF INITIATOR METHIONINE,
RP AND ACETYLATION AT SER-2.
RC TISSUE=Lens;
RX PubMed=1445197; DOI=10.1042/bj2870375;
RA Zarina S., Abbasi A., Zaidi Z.H.;
RT "Primary structure of beta s-crystallin from human lens.";
RL Biochem. J. 287:375-381(1992).
RN [3]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA].
RX PubMed=10837510;
RA Wistow G., Sardarian L., Gan W., Wyatt M.K.;
RT "The human gene for gammaS-crystallin: alternative transcripts and
RT expressed sequences from the first intron.";
RL Mol. Vis. 6:79-84(2000).
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M.,
RA Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J.,
RA Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S.,
RA Turner R., Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H.,
RA Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K.,
RA Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D.,
RA Hunkapiller M.W., Myers E.W., Venter J.C.;
RL Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases.
RN [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Blood vessel;
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [6]
RP NUCLEOTIDE SEQUENCE [MRNA] OF 20-107, AND SEQUENCE REVISION.
RC TISSUE=Lens;
RX PubMed=7733876; DOI=10.1042/bj3070407;
RA Smith J.B., Yang Z., Lin P., Zaidi Z.H., Abbasi A., Russell P.;
RT "The complete sequence of human lens gamma s-crystallin.";
RL Biochem. J. 307:407-410(1995).
RN [7]
RP PROTEIN SEQUENCE OF 8-14, AND MASS SPECTROMETRY.
RX PubMed=8999933; DOI=10.1074/jbc.272.4.2268;
RA Lampi K.J., Ma Z., Shih M., Shearer T.R., Smith J.B., Smith D.L.,
RA David L.L.;
RT "Sequence analysis of betaA3, betaB3, and betaA4 crystallins completes the
RT identification of the major proteins in young human lens.";
RL J. Biol. Chem. 272:2268-2275(1997).
RN [8]
RP X-RAY CRYSTALLOGRAPHY (2.4 ANGSTROMS) OF 92-178.
RX PubMed=11706012; DOI=10.1074/jbc.m110083200;
RA Purkiss A.G., Bateman O.A., Goodfellow J.M., Lubsen N.H., Slingsby C.;
RT "The X-ray crystal structure of human gamma S-crystallin C-terminal
RT domain.";
RL J. Biol. Chem. 277:4199-4205(2002).
RN [9]
RP VARIANT CTRCT20 VAL-18.
RX PubMed=16141006; DOI=10.1136/jmg.2004.028274;
RA Sun H., Ma Z., Li Y., Liu B., Li Z., Ding X., Gao Y., Ma W., Tang X.,
RA Li X., Shen Y.;
RT "Gamma-S crystallin gene (CRYGS) mutation causes dominant progressive
RT cortical cataract in humans.";
RL J. Med. Genet. 42:706-710(2005).
RN [10]
RP VARIANT CTRCT20 CYS-39.
RX PubMed=18587492;
RA Devi R.R., Yao W., Vijayalakshmi P., Sergeev Y.V., Sundaresan P.,
RA Hejtmancik J.F.;
RT "Crystallin gene mutations in Indian families with inherited pediatric
RT cataract.";
RL Mol. Vis. 14:1157-1170(2008).
RN [11]
RP VARIANT CTRCT20 GLY-26.
RX PubMed=21866213;
RA Sun W., Xiao X., Li S., Guo X., Zhang Q.;
RT "Mutation analysis of 12 genes in Chinese families with congenital
RT cataracts.";
RL Mol. Vis. 17:2197-2206(2011).
RN [12]
RP VARIANT CTRCT20 10-PHE-TYR-11 DELINS LEU-ASN.
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).
CC -!- FUNCTION: Crystallins are the dominant structural components of the
CC vertebrate eye lens.
CC -!- SUBUNIT: Monomer.
CC -!- INTERACTION:
CC P22914; P02511: CRYAB; NbExp=2; IntAct=EBI-11308647, EBI-739060;
CC -!- DOMAIN: Has a two-domain beta-structure, folded into four very similar
CC Greek key motifs.
CC -!- MASS SPECTROMETRY: Mass=20918; Mass_error=0.3; Method=Electrospray;
CC Evidence={ECO:0000269|PubMed:8999933};
CC -!- DISEASE: Cataract 20, multiple types (CTRCT20) [MIM:116100]: An
CC opacification of the crystalline lens of the eye that frequently
CC results in visual impairment or blindness. Opacities vary in
CC morphology, are often confined to a portion of the lens, and may be
CC static or progressive. In general, the more posteriorly located and
CC dense an opacity, the greater the impact on visual function. CTRCT20
CC includes progressive polymorphic anterior, posterior, or peripheral
CC cortical. {ECO:0000269|PubMed:16141006, ECO:0000269|PubMed:18587492,
CC ECO:0000269|PubMed:21866213, ECO:0000269|PubMed:28839118}. Note=The
CC disease is caused by variants affecting the gene represented in this
CC entry.
CC -!- SIMILARITY: Belongs to the beta/gamma-crystallin family. {ECO:0000305}.
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DR EMBL; AK314172; BAG36855.1; -; mRNA.
DR EMBL; AF161703; AAD45901.1; -; mRNA.
DR EMBL; AF242198; AAF72490.1; -; Genomic_DNA.
DR EMBL; AF242197; AAF72490.1; JOINED; Genomic_DNA.
DR EMBL; CH471052; EAW78195.1; -; Genomic_DNA.
DR EMBL; BC069478; AAH69478.1; -; mRNA.
DR EMBL; BC070241; AAH70241.1; -; mRNA.
DR EMBL; L36869; AAA92870.1; -; mRNA.
DR CCDS; CCDS3275.1; -.
DR PIR; S29111; S29111.
DR PIR; S55269; S55269.
DR RefSeq; NP_060011.1; NM_017541.3.
DR PDB; 1HA4; X-ray; 2.40 A; A/B=92-178.
DR PDB; 2M3T; NMR; -; A=2-178.
DR PDB; 2M3U; NMR; -; A=2-178.
DR PDB; 6FD8; X-ray; 2.10 A; A/B=1-178.
DR PDB; 6IF9; NMR; -; A=1-178.
DR PDB; 7N36; X-ray; 2.00 A; A/B=2-178.
DR PDB; 7N37; X-ray; 1.30 A; A=2-178.
DR PDB; 7N38; X-ray; 1.22 A; A=2-178.
DR PDB; 7N39; X-ray; 1.56 A; A/B=2-178.
DR PDB; 7N3A; X-ray; 1.50 A; A=2-178.
DR PDB; 7N3B; X-ray; 2.09 A; A/B=2-178.
DR PDB; 7NJE; X-ray; 3.00 A; A/B=2-178.
DR PDBsum; 1HA4; -.
DR PDBsum; 2M3T; -.
DR PDBsum; 2M3U; -.
DR PDBsum; 6FD8; -.
DR PDBsum; 6IF9; -.
DR PDBsum; 7N36; -.
DR PDBsum; 7N37; -.
DR PDBsum; 7N38; -.
DR PDBsum; 7N39; -.
DR PDBsum; 7N3A; -.
DR PDBsum; 7N3B; -.
DR PDBsum; 7NJE; -.
DR AlphaFoldDB; P22914; -.
DR BMRB; P22914; -.
DR PCDDB; P22914; -.
DR SASBDB; P22914; -.
DR SMR; P22914; -.
DR BioGRID; 107814; 12.
DR DIP; DIP-60585N; -.
DR IntAct; P22914; 4.
DR STRING; 9606.ENSP00000376287; -.
DR iPTMnet; P22914; -.
DR PhosphoSitePlus; P22914; -.
DR BioMuta; CRYGS; -.
DR DMDM; 4033688; -.
DR MassIVE; P22914; -.
DR PaxDb; P22914; -.
DR PeptideAtlas; P22914; -.
DR PRIDE; P22914; -.
DR ProteomicsDB; 54050; -.
DR Antibodypedia; 33848; 206 antibodies from 23 providers.
DR DNASU; 1427; -.
DR Ensembl; ENST00000307944.6; ENSP00000312099.5; ENSG00000213139.8.
DR Ensembl; ENST00000392499.6; ENSP00000376287.2; ENSG00000213139.8.
DR GeneID; 1427; -.
DR KEGG; hsa:1427; -.
DR MANE-Select; ENST00000307944.6; ENSP00000312099.5; NM_017541.4; NP_060011.1.
DR UCSC; uc003fqe.4; human.
DR CTD; 1427; -.
DR DisGeNET; 1427; -.
DR GeneCards; CRYGS; -.
DR HGNC; HGNC:2417; CRYGS.
DR HPA; ENSG00000213139; Tissue enhanced (brain).
DR MalaCards; CRYGS; -.
DR MIM; 116100; phenotype.
DR MIM; 123730; gene.
DR neXtProt; NX_P22914; -.
DR OpenTargets; ENSG00000213139; -.
DR Orphanet; 441452; Early-onset lamellar cataract.
DR Orphanet; 98985; Early-onset sutural cataract.
DR PharmGKB; PA26922; -.
DR VEuPathDB; HostDB:ENSG00000213139; -.
DR eggNOG; ENOG502QQAM; Eukaryota.
DR GeneTree; ENSGT00940000160342; -.
DR HOGENOM; CLU_081883_1_1_1; -.
DR InParanoid; P22914; -.
DR OMA; PVEWGAV; -.
DR OrthoDB; 1225331at2759; -.
DR PhylomeDB; P22914; -.
DR PathwayCommons; P22914; -.
DR SignaLink; P22914; -.
DR SIGNOR; P22914; -.
DR BioGRID-ORCS; 1427; 12 hits in 1081 CRISPR screens.
DR EvolutionaryTrace; P22914; -.
DR GeneWiki; CRYGS; -.
DR GenomeRNAi; 1427; -.
DR Pharos; P22914; Tbio.
DR PRO; PR:P22914; -.
DR Proteomes; UP000005640; Chromosome 3.
DR RNAct; P22914; protein.
DR Bgee; ENSG00000213139; Expressed in anterior segment of eyeball and 111 other tissues.
DR ExpressionAtlas; P22914; baseline and differential.
DR Genevisible; P22914; 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:0002009; P:morphogenesis of an epithelium; IEA:Ensembl.
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 1: Evidence at protein level;
KW 3D-structure; Acetylation; Cataract; Direct protein sequencing;
KW Disease variant; Eye lens protein; Reference proteome; Repeat.
FT INIT_MET 1
FT /note="Removed"
FT /evidence="ECO:0000269|PubMed:1445197"
FT CHAIN 2..178
FT /note="Gamma-crystallin S"
FT /id="PRO_0000057565"
FT DOMAIN 6..44
FT /note="Beta/gamma crystallin 'Greek key' 1"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00028"
FT DOMAIN 45..87
FT /note="Beta/gamma crystallin 'Greek key' 2"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00028"
FT DOMAIN 94..134
FT /note="Beta/gamma crystallin 'Greek key' 3"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00028"
FT DOMAIN 135..177
FT /note="Beta/gamma crystallin 'Greek key' 4"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00028"
FT REGION 2..5
FT /note="N-terminal arm"
FT REGION 88..93
FT /note="Connecting peptide"
FT MOD_RES 2
FT /note="N-acetylserine"
FT /evidence="ECO:0000269|PubMed:1445197"
FT VARIANT 10..11
FT /note="FY -> LN (in CTRCT20; unknown pathological
FT significance)"
FT /evidence="ECO:0000269|PubMed:28839118"
FT /id="VAR_084793"
FT VARIANT 18
FT /note="G -> V (in CTRCT20; dbSNP:rs104893736)"
FT /evidence="ECO:0000269|PubMed:16141006"
FT /id="VAR_069797"
FT VARIANT 26
FT /note="D -> G (in CTRCT20; unknown pathological
FT significance; dbSNP:rs143507827)"
FT /evidence="ECO:0000269|PubMed:21866213"
FT /id="VAR_084794"
FT VARIANT 39
FT /note="S -> C (in CTRCT20; unknown pathological
FT significance; dbSNP:rs1184398243)"
FT /evidence="ECO:0000269|PubMed:18587492"
FT /id="VAR_084795"
FT CONFLICT 4
FT /note="T -> A (in Ref. 2; AA sequence)"
FT /evidence="ECO:0000305"
FT CONFLICT 20
FT /note="R -> H (in Ref. 2; AA sequence)"
FT /evidence="ECO:0000305"
FT CONFLICT 23
FT /note="C -> S (in Ref. 2; AA sequence)"
FT /evidence="ECO:0000305"
FT CONFLICT 29
FT /note="D -> E (in Ref. 2; AA sequence)"
FT /evidence="ECO:0000305"
FT CONFLICT 32
FT /note="T -> M (in Ref. 2; AA sequence)"
FT /evidence="ECO:0000305"
FT CONFLICT 41
FT /note="K -> R (in Ref. 2; AA sequence)"
FT /evidence="ECO:0000305"
FT CONFLICT 52
FT /note="R -> T (in Ref. 2; AA sequence)"
FT /evidence="ECO:0000305"
FT CONFLICT 105
FT /note="S -> N (in Ref. 2; AA sequence)"
FT /evidence="ECO:0000305"
FT CONFLICT 109
FT /note="Y -> R (in Ref. 2; AA sequence)"
FT /evidence="ECO:0000305"
FT CONFLICT 114
FT /note="D -> N (in Ref. 2; AA sequence)"
FT /evidence="ECO:0000305"
FT STRAND 8..13
FT /evidence="ECO:0007829|PDB:6FD8"
FT TURN 14..16
FT /evidence="ECO:0007829|PDB:6FD8"
FT STRAND 17..25
FT /evidence="ECO:0007829|PDB:6FD8"
FT TURN 31..33
FT /evidence="ECO:0007829|PDB:6FD8"
FT STRAND 38..42
FT /evidence="ECO:0007829|PDB:6FD8"
FT STRAND 43..45
FT /evidence="ECO:0007829|PDB:2M3T"
FT STRAND 47..52
FT /evidence="ECO:0007829|PDB:6FD8"
FT TURN 53..55
FT /evidence="ECO:0007829|PDB:6FD8"
FT STRAND 56..62
FT /evidence="ECO:0007829|PDB:6FD8"
FT STRAND 64..69
FT /evidence="ECO:0007829|PDB:6FD8"
FT HELIX 70..73
FT /evidence="ECO:0007829|PDB:6FD8"
FT STRAND 76..78
FT /evidence="ECO:0007829|PDB:6FD8"
FT STRAND 82..85
FT /evidence="ECO:0007829|PDB:6FD8"
FT STRAND 91..93
FT /evidence="ECO:0007829|PDB:6IF9"
FT STRAND 95..101
FT /evidence="ECO:0007829|PDB:6FD8"
FT TURN 102..104
FT /evidence="ECO:0007829|PDB:6FD8"
FT STRAND 105..113
FT /evidence="ECO:0007829|PDB:6FD8"
FT HELIX 118..122
FT /evidence="ECO:0007829|PDB:6FD8"
FT STRAND 129..135
FT /evidence="ECO:0007829|PDB:6FD8"
FT STRAND 137..143
FT /evidence="ECO:0007829|PDB:6FD8"
FT STRAND 147..152
FT /evidence="ECO:0007829|PDB:6FD8"
FT STRAND 154..159
FT /evidence="ECO:0007829|PDB:6FD8"
FT HELIX 160..162
FT /evidence="ECO:0007829|PDB:6FD8"
FT STRAND 166..169
FT /evidence="ECO:0007829|PDB:1HA4"
FT STRAND 172..175
FT /evidence="ECO:0007829|PDB:6FD8"
SQ SEQUENCE 178 AA; 21007 MW; 29C46720A80EF6C2 CRC64;
MSKTGTKITF YEDKNFQGRR YDCDCDCADF HTYLSRCNSI KVEGGTWAVY ERPNFAGYMY
ILPQGEYPEY QRWMGLNDRL SSCRAVHLPS GGQYKIQIFE KGDFSGQMYE TTEDCPSIME
QFHMREIHSC KVLEGVWIFY ELPNYRGRQY LLDKKEYRKP IDWGAASPAV QSFRRIVE
