Skip Header

You are using a version of Internet Explorer that may not display all features of this website. Please upgrade to a modern browser.
Contribute Send feedback
Read comments (?) or add your own

P07315 (CRGC_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 142. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (6) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Interactions·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Gamma-crystallin C
Alternative name(s):
Gamma-C-crystallin
Gamma-crystallin 2-1
Gamma-crystallin 3
Gene names
Name:CRYGC
Synonyms:CRYG3
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length174 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is further processed into a mature form.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

Crystallins are the dominant structural components of the vertebrate eye lens.

Subunit structure

Monomer By similarity.

Domain

Has a two-domain beta-structure, folded into four very similar Greek key motifs.

Involvement in disease

Cataract 2, multiple types (CTRCT2) [MIM:604307]: An opacification of the crystalline lens of the eye that frequently results in visual impairment or blindness. Opacities vary in morphology, are often confined to a portion of the lens, and may be static or progressive. CTRCT2 includes Coppock-like cataract, among others. Coppock-like cataract is a congenital pulverulent disk-like opacity involving the embryonic nucleus with many tiny white dots in the lamellar portion of the lens. It is usually bilateral and dominantly inherited. In some cases, CTRCT2 is associated with microcornea without any other systemic anomaly or dysmorphism. Microcornea is defined by a corneal diameter inferior to 10 mm in both meridians in an otherwise normal eye.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.10 Ref.12 Ref.14 Ref.15 Ref.16 Ref.18

Sequence similarities

Belongs to the beta/gamma-crystallin family.

Contains 4 beta/gamma crystallin 'Greek key' domains.

Mass spectrometry

Molecular mass is 20747±0.2 Da from positions 2 - 174. Determined by ESI. Ref.9

Binary interactions

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Initiator methionine11Removed Ref.8
Chain2 – 174173Gamma-crystallin C
PRO_0000057587

Regions

Domain2 – 4039Beta/gamma crystallin 'Greek key' 1
Domain41 – 8343Beta/gamma crystallin 'Greek key' 2
Domain88 – 12841Beta/gamma crystallin 'Greek key' 3
Domain129 – 17143Beta/gamma crystallin 'Greek key' 4
Region84 – 874Connecting peptide

Sites

Site561Susceptible to oxidation
Site691Susceptible to oxidation
Site701Susceptible to oxidation
Site1311Susceptible to oxidation

Amino acid modifications

Modified residue231S-methylcysteine Ref.9

Natural variations

Natural variant51T → P in CTRCT2; affects protein-protein interactions. Ref.12 Ref.16
VAR_021142
Natural variant61F → L.
Corresponds to variant rs2242072 [ dbSNP | Ensembl ].
VAR_038432
Natural variant481R → H. Ref.15 Ref.17
Corresponds to variant rs61751949 [ dbSNP | Ensembl ].
VAR_021143
Natural variant1291G → C in CTRCT2. Ref.18
VAR_067212
Natural variant1691R → W in CTRCT2; congenital lamellar cataract. Ref.15
VAR_021144

Secondary structure

.................................... 174
Helix Strand Turn

Details...

Sequences

Sequence LengthMass (Da)Tools
P07315 [UniParc].

Last modified January 23, 2007. Version 2.
Checksum: B01DC167171A7668

FASTA17420,879
        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 

« Hide

References

« Hide 'large scale' references
[1]"Two human gamma-crystallin genes are linked and riddled with Alu-repeats."
den Dunnen J.T., Moormann R.J.M., Cremers F.P.M., Schoenmakers J.G.G.
Gene 38:197-204(1985) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
[2]"Structural and evolutionary relationships among five members of the human gamma-crystallin gene family."
Meakin S.O., Breitman M.L., Tsui L.-C.
Mol. Cell. Biol. 5:1408-1414(1985) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
[3]"Nucleotide sequence of the rat gamma-crystallin gene region and comparison with an orthologous human region."
den Dunnen J.T., van Neck J.W., Cremers F.P.M., Lubsen N.H., Schoenmakers J.G.G.
Gene 78:201-213(1989) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
[4]"Cloning and expression of human lens crystallins."
Petrash J.M., Mathur S., Manoharan M., Andley U.P.
Invest. Ophthalmol. Vis. Sci. 36:S882-S882(1995)
Cited for: NUCLEOTIDE SEQUENCE [MRNA].
Tissue: Lens.
[5]"Generation and annotation of the DNA sequences of human chromosomes 2 and 4."
Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P., Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C., Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L., Du H. expand/collapse author list , Sun H., Bradshaw-Cordum H., Ali J., Carter J., Cordes M., Harris A., Isak A., van Brunt A., Nguyen C., Du F., Courtney L., Kalicki J., Ozersky P., Abbott S., Armstrong J., Belter E.A., Caruso L., Cedroni M., Cotton M., Davidson T., Desai A., Elliott G., Erb T., Fronick C., Gaige T., Haakenson W., Haglund K., Holmes A., Harkins R., Kim K., Kruchowski S.S., Strong C.M., Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K., McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N., Swearengen-Shahid S., Snider J., Strong J.T., Thompson J., Yoakum M., Leonard S., Pearman C., Trani L., Radionenko M., Waligorski J.E., Wang C., Rock S.M., Tin-Wollam A.-M., Maupin R., Latreille P., Wendl M.C., Yang S.-P., Pohl C., Wallis J.W., Spieth J., Bieri T.A., Berkowicz N., Nelson J.O., Osborne J., Ding L., Meyer R., Sabo A., Shotland Y., Sinha P., Wohldmann P.E., Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Jones T.A., She X., Ciccarelli F.D., Izaurralde E., Taylor J., Schmutz J., Myers R.M., Cox D.R., Huang X., McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C., Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S., Miller W., Eichler E.E., Bork P., Suyama M., Torrents D., Waterston R.H., Wilson R.K.
Nature 434:724-731(2005) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[6]Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. expand/collapse author list , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C.
Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[7]"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
The MGC Project Team
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
[8]"Sequence analysis of betaA3, betaB3, and betaA4 crystallins completes the identification of the major proteins in young human lens."
Lampi K.J., Ma Z., Shih M., Shearer T.R., Smith J.B., Smith D.L., David L.L.
J. Biol. Chem. 272:2268-2275(1997) [PubMed] [Europe PMC] [Abstract]
Cited for: PROTEIN SEQUENCE OF 2-26.
[9]"Methylation and carbamylation of human gamma-crystallins."
Lapko V.N., Smith D.L., Smith J.B.
Protein Sci. 12:1762-1774(2003) [PubMed] [Europe PMC] [Abstract]
Cited for: METHYLATION AT CYS-23, MASS SPECTROMETRY.
[10]"A nonsense mutation of CRYGC associated with autosomal dominant congenital nuclear cataracts and microcornea in a Chinese pedigree."
Guo Y., Su D., Li Q., Yang Z., Ma Z., Ma X., Zhu S.
Mol. Vis. 18:1874-1880(2012) [PubMed] [Europe PMC] [Abstract]
Cited for: INVOLVEMENT IN CTRCT2.
[11]"Homology models of human gamma-crystallins: structural study of the extensive charge network in gamma-crystallins."
Salim A., Zaidi Z.H.
Biochem. Biophys. Res. Commun. 300:624-630(2003) [PubMed] [Europe PMC] [Abstract]
Cited for: 3D-STRUCTURE MODELING.
[12]"The gamma-crystallins and human cataracts: a puzzle made clearer."
Heon E., Priston M., Schorderet D.F., Billingsley G.D., Girard P.O., Lubsen N., Munier F.L.
Am. J. Hum. Genet. 65:1261-1267(1999) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT CTRCT2 PRO-5.
[13]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)
[14]"A 5-base insertion in the gammaC-crystallin gene is associated with autosomal dominant variable zonular pulverulent cataract."
Ren Z., Li A., Shastry B.S., Padma T., Ayyagari R., Scott M.H., Parks M.M., Kaiser-Kupfer M.I., Hejtmancik J.F.
Hum. Genet. 106:531-537(2000) [PubMed] [Europe PMC] [Abstract]
Cited for: INVOLVEMENT IN CTRCT2.
[15]"Novel mutations in the gamma-crystallin genes cause autosomal dominant congenital cataracts."
Santhiya S.T., Shyam Manohar M., Rawlley D., Vijayalakshmi P., Namperumalsamy P., Gopinath P.M., Loester J., Graw J.
J. Med. Genet. 39:352-358(2002) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT CTRCT2 TRP-169, VARIANT HIS-48.
[16]"Alteration of protein-protein interactions of congenital cataract crystallin mutants."
Fu L., Liang J.J.-N.
Invest. Ophthalmol. Vis. Sci. 44:1155-1159(2003) [PubMed] [Europe PMC] [Abstract]
Cited for: CHARACTERIZATION OF VARIANT CTRCT2 PRO-5.
[17]"Mutation screening and genotype phenotype correlation of alpha-crystallin, gamma-crystallin and GJA8 gene in congenital cataract."
Kumar M., Agarwal T., Khokhar S., Kumar M., Kaur P., Roy T.S., Dada R.
Mol. Vis. 17:693-707(2011) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT HIS-48.
[18]"A novel mutation impairing the tertiary structure and stability of gammaC-crystallin (CRYGC) leads to cataract formation in humans and zebrafish lens."
Li X.Q., Cai H.C., Zhou S.Y., Yang J.H., Xi Y.B., Gao X.B., Zhao W.J., Li P., Zhao G.Y., Tong Y., Bao F.C., Ma Y., Wang S., Yan Y.B., Lu C.L., Ma X.
Hum. Mutat. 33:391-401(2012) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT CTRCT2 CYS-129.
+Additional computationally mapped references.

Web resources

Eye disease Crystallin, gamma-C (CRYGC)

Leiden Open Variation Database (LOVD)

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
M11973, M11972 Genomic DNA. Translation: AAA52114.1.
K03004, K03003 Genomic DNA. Translation: AAA52111.1.
M19364 Genomic DNA. Translation: AAA52110.1.
U66582 mRNA. Translation: AAC50899.1.
AC093698 Genomic DNA. Translation: AAY24042.1.
CH471063 Genomic DNA. Translation: EAW70433.1.
BC074954 mRNA. Translation: AAH74954.1.
BC074955 mRNA. Translation: AAH74955.1.
CCDSCCDS2379.1.
PIRCYHUG2. B24520.
RefSeqNP_066269.1. NM_020989.3.
UniGeneHs.72910.

3D structure databases

PDBe
RCSB-PDB
PDBj
EntryMethodResolution (Å)ChainPositionsPDBsum
1LFEmodel-A1-174[»]
ProteinModelPortalP07315.
SMRP07315. Positions 2-174.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid107810. 8 interactions.
IntActP07315. 3 interactions.
MINTMINT-221050.
STRING9606.ENSP00000282141.

PTM databases

PhosphoSiteP07315.

Polymorphism databases

DMDM117464.

Proteomic databases

PaxDbP07315.
PeptideAtlasP07315.
PRIDEP07315.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000282141; ENSP00000282141; ENSG00000163254.
GeneID1420.
KEGGhsa:1420.
UCSCuc002vco.4. human.

Organism-specific databases

CTD1420.
GeneCardsGC02M208992.
HGNCHGNC:2410. CRYGC.
MIM123680. gene.
604307. phenotype.
neXtProtNX_P07315.
Orphanet1377. Cataract-microcornea syndrome.
98986. Coppock-like cataract.
98984. Pulverulent cataract.
98995. Zonular cataract.
PharmGKBPA26917.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG321245.
HOGENOMHOG000234389.
HOVERGENHBG003364.
InParanoidP07315.
OMACMERAVR.
OrthoDBEOG70CR7Z.
PhylomeDBP07315.

Gene expression databases

BgeeP07315.
CleanExHS_CRYGC.
GenevestigatorP07315.

Family and domain databases

InterProIPR001064. Beta/gamma_crystallin.
IPR011024. G_crystallin-rel.
[Graphical view]
PfamPF00030. Crystall. 2 hits.
[Graphical view]
PRINTSPR01367. BGCRYSTALLIN.
SMARTSM00247. XTALbg. 2 hits.
[Graphical view]
SUPFAMSSF49695. SSF49695. 1 hit.
PROSITEPS50915. CRYSTALLIN_BETA_GAMMA. 4 hits.
[Graphical view]
ProtoNetSearch...

Other

GeneWikiCRYGC.
GenomeRNAi1420.
NextBio5807.
PROP07315.
SOURCESearch...

Entry information

Entry nameCRGC_HUMAN
AccessionPrimary (citable) accession number: P07315
Secondary accession number(s): Q53R50
Entry history
Integrated into UniProtKB/Swiss-Prot: April 1, 1988
Last sequence update: January 23, 2007
Last modified: July 9, 2014
This is version 142 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Relevant documents

SIMILARITY comments

Index of protein domains and families

PDB cross-references

Index of Protein Data Bank (PDB) cross-references

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 2

Human chromosome 2: entries, gene names and cross-references to MIM