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UniProtKB/Swiss-Prot entry P07315


[Entry info] [Name and origin] [References] [Comments] [Cross-references] [Keywords] [Features] [Sequence] [Tools]

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Entry information
Entry name CRGC_HUMAN
Primary accession number P07315
Secondary accession numbers None
Integrated into Swiss-Prot on April 1, 1988
Sequence was last modified on January 23, 2007 (Sequence version 2)
Annotations were last modified on    June 10, 2008 (Entry version 90)
Name and origin of the protein
Protein name Gamma-crystallin C
Synonyms Gamma-C-crystallin
Gamma-crystallin 2-1
Gamma-crystallin 3
Gene name
Name: CRYGC
Synonyms: CRYG3
From
Homo sapiens (Human) [TaxID: 9606] 
Taxonomy Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo.
Protein existence 1: Evidence at protein level;
References
[1]
NUCLEOTIDE SEQUENCE [GENOMIC DNA].
DOI=10.1016/0378-1119(85)90218-5; PubMed=4065573 [NCBI, ExPASy, EBI, Israel, Japan]
den Dunnen J.T., Moormann R.J.M., Cremers F.P.M., Schoenmakers J.G.G.;
"Two human gamma-crystallin genes are linked and riddled with Alu-repeats.";
Gene 38:197-204(1985).
[2]
NUCLEOTIDE SEQUENCE [GENOMIC DNA].
PubMed=4033658 [NCBI, ExPASy, EBI, Israel, Japan]
Meakin S.O., Breitman M.L., Tsui L.-C.;
"Structural and evolutionary relationships among five members of the human gamma-crystallin gene family.";
Mol. Cell. Biol. 5:1408-1414(1985).
[3]
NUCLEOTIDE SEQUENCE [GENOMIC DNA].
DOI=10.1016/0378-1119(89)90223-0; PubMed=2777080 [NCBI, ExPASy, EBI, Israel, Japan]
den Dunnen J.T., van Neck J.W., Cremers F.P.M., Lubsen N.H., Schoenmakers J.G.G.;
"Nucleotide sequence of the rat gamma-crystallin gene region and comparison with an orthologous human region.";
Gene 78:201-213(1989).
[4]
NUCLEOTIDE SEQUENCE [MRNA].
TISSUE=Lens;
Petrash J.M., Mathur S., Manoharan M., Andley U.P.;
"Cloning and expression of human lens crystallins.";
Invest. Ophthalmol. Vis. Sci. 36:S882-S882(1995).
[5]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
DOI=10.1101/gr.2596504; PubMed=15489334 [NCBI, ExPASy, EBI, Israel, Japan]
The MGC Project Team;
"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).";
Genome Res. 14:2121-2127(2004).
[6]
PROTEIN SEQUENCE OF 2-26.
DOI=10.1074/jbc.272.4.2268; PubMed=8999933 [NCBI, ExPASy, EBI, Israel, Japan]
Lampi K.J., Ma Z., Shih M., Shearer T.R., Smith J.B., Smith D.L., David L.L.;
"Sequence analysis of betaA3, betaB3, and betaA4 crystallins completes the identification of the major proteins in young human lens.";
J. Biol. Chem. 272:2268-2275(1997).
[7]
PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT TYR-63 AND TYR-66, SUSCEPTIBILITY TO OXIDATION, AND MASS SPECTROMETRY.
DOI=10.1073/pnas.122231399; PubMed=12060738 [NCBI, ExPASy, EBI, Israel, Japan]
MacCoss M.J., McDonald W.H., Saraf A., Sadygov R., Clark J.M., Tasto J.J., Gould K.L., Wolters D., Washburn M., Weiss A., Clark J.I., Yates J.R. III;
"Shotgun identification of protein modifications from protein complexes and lens tissue.";
Proc. Natl. Acad. Sci. U.S.A. 99:7900-7905(2002).
[8]
METHYLATION AT CYS-23, AND MASS SPECTROMETRY.
DOI=10.1110/ps.0305403; PubMed=12876325 [NCBI, ExPASy, EBI, Israel, Japan]
Lapko V.N., Smith D.L., Smith J.B.;
"Methylation and carbamylation of human gamma-crystallins.";
Protein Sci. 12:1762-1774(2003).
[9]
3D-STRUCTURE MODELING.
DOI=10.1016/S0006-291X(02)02895-4; PubMed=12507494 [NCBI, ExPASy, EBI, Israel, Japan]
Salim A., Zaidi Z.H.;
"Homology models of human gamma-crystallins: structural study of the extensive charge network in gamma-crystallins.";
Biochem. Biophys. Res. Commun. 300:624-630(2003).
[10]
VARIANT CCL PRO-5.
DOI=10.1086/302619; PubMed=10521291 [NCBI, ExPASy, EBI, Israel, Japan]
Heon E., Priston M., Schorderet D.F., Billingsley G.D., Girard P.O., Lubsen N., Munier F.L.;
"The gamma-crystallins and human cataracts: a puzzle made clearer.";
Am. J. Hum. Genet. 65:1261-1267(1999).
[11]
ERRATUM.
Heon E., Priston M., Schorderet D.F., Billingsley G.D., Girard P.O., Lubsen N., Munier F.L.;
Am. J. Hum. Genet. 66:753-753(2000).
[12]
INVOLVEMENT IN VARIABLE ZONULAR PULVERULENT CATARACT.
DOI=10.1007/s004390050021; PubMed=10914683 [NCBI, ExPASy, EBI, Israel, Japan]
Ren Z., Li A., Shastry B.S., Padma T., Ayyagari R., Scott M.H., Parks M.M., Kaiser-Kupfer M.I., Hejtmancik J.F.;
"A 5-base insertion in the gammaC-crystallin gene is associated with autosomal dominant variable zonular pulverulent cataract.";
Hum. Genet. 106:531-537(2000).
[13]
VARIANT CATARACT TRP-169, AND VARIANT HIS-48.
DOI=10.1136/jmg.39.5.352; PubMed=12011157 [NCBI, ExPASy, EBI, Israel, Japan]
Santhiya S.T., Shyam Manohar M., Rawlley D., Vijayalakshmi P., Namperumalsamy P., Gopinath P.M., Loester J., Graw J.;
"Novel mutations in the gamma-crystallin genes cause autosomal dominant congenital cataracts.";
J. Med. Genet. 39:352-358(2002).
[14]
CHARACTERIZATION OF VARIANT CCL PRO-5.
DOI=10.1167/iovs.02-0950; PubMed=12601044 [NCBI, ExPASy, EBI, Israel, Japan]
Fu L., Liang J.J.-N.;
"Alteration of protein-protein interactions of congenital cataract crystallin mutants.";
Invest. Ophthalmol. Vis. Sci. 44:1155-1159(2003).
Comments
  • FUNCTION: Crystallins are the dominant structural components of the vertebrate eye lens.
  • SUBUNIT: Monomer (By similarity).
  • DOMAIN: Has a two-domain beta-structure, folded into four very similar Greek key motifs.
  • MASS SPECTROMETRY: Mass=20747; Mass_error=0.2; Method=Electrospray; Range=2-174; Source=PubMed:12876325;.
  • DISEASE: Defects in CRYGC are a cause of autosomal dominant cataract [MIM:604219]. Cataract is an opacification of the eye lens that frequently results in visual impairment or blindness during infancy and early childhood.
  • DISEASE: Defects in CRYGC are the cause of variable zonular pulverulent cataract [MIM:123680].
  • DISEASE: Defects in CRYGC are a cause of Coppock-like cataract (CCL) [MIM:604307]. The Coppock cataract refers to a congenital pulverulent disk-like opacity involving the embryonal and fetal nucleus with many tiny white dots in the lamellar portion of the lens. It is usually bilateral and dominantly inherited.
  • DISEASE: Crystallins do not turn over as the lens ages, providing ample opportunity for post-translational modifications or oxidations. These modifications may change crystallin solubility properties and favor senile cataract.
  • SIMILARITY: Belongs to the beta/gamma-crystallin family.
  • SIMILARITY: Contains 4 beta/gamma crystallin 'Greek key' domains.
Copyright
Copyrighted by the UniProt Consortium, see http://www.uniprot.org/terms. Distributed under the Creative Commons Attribution-NoDerivs License.
Cross-references
Sequence databases
EMBL
M11973; AAA52114.1; -; Genomic_DNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
M11972; AAA52114.1; JOINED; Genomic_DNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
K03004; AAA52111.1; -; Genomic_DNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
K03003; AAA52111.1; JOINED; Genomic_DNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
M19364; AAA52110.1; -; Genomic_DNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
U66582; AAC50899.1; -; mRNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
BC074954; AAH74954.1; -; mRNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
BC074955; AAH74955.1; -; mRNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
PIR B24520; CYHUG2.
RefSeq NP_066269.1; -.
UniGene Hs.72910
3D structure databases
PDB
1LFE; Model; -; A=1-174.[ExPASy / RCSB / EBI]
PDBsum 1LFE; -.
SMR P07315; 2-174.
ModBase P07315.
PTM databases
PhosphoSite P07315; -.
Organism-specific databases
H-InvDB HIX0029985; -.
HGNC HGNC:2410; CRYGC.
GeneLynx CRYGC; Homo sapiens.
GenAtlas CRYGC.
MIM 123680; gene+phenotype. [NCBI / EBI]
604219; phenotype. [NCBI / EBI]
604307; phenotype. [NCBI / EBI]
Orphanet 91492; Cataract, congenital, non-syndromic.
PharmGKB PA26917; -.
GeneCards P07315.
Gene expression databases
ArrayExpress P07315; -.
CleanEx HS_CRYGC; -.
GermOnline ENSG00000163254; Homo sapiens.
Ontologies
GO
GO:0005212; Molecular function: structural constituent of eye lens (non-traceable author statement from UniProtKB).
QuickGo view.
Family and domain databases
InterPro IPR001064; Crystallin.
Graphical view of domain structure.
Gene3D G3DSA:2.60.20.10; Crystallin; 2.
Pfam PF00030; Crystall; 2.
Pfam graphical view of domain structure.
PRINTS PR01367; BGCRYSTALLIN.
SMART SM00247; XTALbg; 2.
SMART graphical view of domain structure.
PROSITE PS50915; CRYSTALLIN_BETA_GAMMA; 4.
PROSITE graphical view of domain structure (profiles).
BLOCKS P07315.
Proteomic databases
PeptideAtlas P07315; -.
Genome annotation databases
Ensembl ENSG00000163254; Homo sapiens. [Contig view]
GeneID 1420; -.
KEGG hsa:1420; -.
Phylogenomic databases
HOGENOM P07315; -.
HOVERGEN P07315; -.
Other
SOURCE CRYGC; Homo sapiens.
ProtoNet P07315.
UniRef View cluster of proteins with at least 50% / 90% / 100% identity.
Keywords
3D-structure; Cataract; Direct protein sequencing; Disease mutation; Eye lens protein; Methylation; Oxidation; Phosphoprotein; Polymorphism; Repeat.
Features
SEVIEWER logo Feature table viewer FT aligner logo Feature aligner
KeyFrom   To Length Description FTId
INIT_MET   1     1        Removed. 
CHAIN   2   174  173     Gamma-crystallin C. PRO_0000057587
DOMAIN   2    40  39     Beta/gamma crystallin 'Greek key' 1. 
DOMAIN   41    83  43     Beta/gamma crystallin 'Greek key' 2. 
DOMAIN   88   128  41     Beta/gamma crystallin 'Greek key' 3. 
DOMAIN   129   171  43     Beta/gamma crystallin 'Greek key' 4. 
REGION   84    87  4     Connecting peptide. 
SITE   56    56  1     Susceptible to oxidation. 
SITE   69    69  1     Susceptible to oxidation. 
SITE   70    70  1     Susceptible to oxidation. 
SITE   131   131  1     Susceptible to oxidation. 
MOD_RES   23    23        S-methylcysteine. 
MOD_RES   63    63        Phosphotyrosine. 
MOD_RES   66    66        Phosphotyrosine. 
VARIANT   5     5  1     T -> P (in CCL; interactions between Pro-5 mutants themselves were unchanged versus wild-type CRYGC indicating that homogeneous interaction sites or domains differ from those used in heterogeneous interactions). VAR_021142 [3D]
VARIANT   6     6  1     F -> L (in dbSNP:rs2242072 [NCBI]). VAR_038432 [3D]
VARIANT   48    48  1     R -> H. VAR_021143 [3D]
VARIANT   169   169  1     R -> W (in cataract; congenital lamellar). VAR_021144 [3D]
STRAND   2     8  7      
HELIX   9    11  3      
STRAND   12    20  9      
TURN   26    28  3      
STRAND   33    47  15      
TURN   48    50  3      
STRAND   51    57  7      
STRAND   59    65  7      
HELIX   66    68  3      
STRAND   71    73  3      
STRAND   77    81  5      
STRAND   88    94  7      
TURN   95    97  3      
STRAND   98   101  4      
HELIX   111   115  5      
STRAND   122   128  7      
STRAND   130   135  6      
TURN   136   138  3      
STRAND   139   145  7      
STRAND   147   150  4      
HELIX   153   156  4      
STRAND   165   168  4      
Sequence information
Length: 174 AA [This is the length of the unprocessed precursor] Molecular weight: 20879 Da [This is the MW of the unprocessed precursor] CRC64: B01DC167171A7668 [This is a checksum on the sequence]
        10         20         30         40         50         60 
MGKITFYEDR AFQGRSYETT TDCPNLQPYF SRCNSIRVES GCWMLYERPN YQGQQYLLRR 

        70         80         90        100        110        120 
GEYPDYQQWM GLSDSIRSCC LIPQTVSHRL RLYEREDHKG LMMELSEDCP SIQDRFHLSE 

       130        140        150        160        170 
IRSLHVLEGC WVLYELPNYR GRQYLLRPQE YRRCQDWGAM DAKAGSLRRV VDLY 

P07315 in FASTA format

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