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P07315

- CRGC_HUMAN

UniProt

P07315 - CRGC_HUMAN

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Protein

Gamma-crystallin C

Gene

CRYGC

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli

Functioni

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

GO - Molecular functioni

  1. structural constituent of eye lens Source: UniProtKB

GO - Biological processi

  1. camera-type eye development Source: Ensembl
  2. visual perception Source: UniProtKB
Complete GO annotation...

Keywords - Molecular functioni

Eye lens protein

Names & Taxonomyi

Protein namesi
Recommended name:
Gamma-crystallin C
Alternative name(s):
Gamma-C-crystallin
Gamma-crystallin 2-1
Gamma-crystallin 3
Gene namesi
Name:CRYGC
Synonyms:CRYG3
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 2

Organism-specific databases

HGNCiHGNC:2410. CRYGC.

Subcellular locationi

GO - Cellular componenti

  1. cytoplasm Source: UniProtKB
  2. nucleus Source: UniProtKB
Complete GO annotation...

Pathology & Biotechi

Involvement in diseasei

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.5 Publications
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti5 – 51T → P in CTRCT2; affects protein-protein interactions. 1 Publication
VAR_021142
Natural varianti129 – 1291G → C in CTRCT2. 1 Publication
VAR_067212
Natural varianti169 – 1691R → W in CTRCT2; congenital lamellar cataract. 1 Publication
VAR_021144

Keywords - Diseasei

Cataract, Disease mutation

Organism-specific databases

MIMi604307. phenotype.
Orphaneti1377. Cataract-microcornea syndrome.
98986. Coppock-like cataract.
98984. Pulverulent cataract.
98995. Zonular cataract.
PharmGKBiPA26917.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Initiator methioninei1 – 11Removed1 Publication
Chaini2 – 174173Gamma-crystallin CPRO_0000057587Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei23 – 231S-methylcysteine1 Publication

Keywords - PTMi

Methylation

Proteomic databases

PaxDbiP07315.
PeptideAtlasiP07315.
PRIDEiP07315.

PTM databases

PhosphoSiteiP07315.

Expressioni

Gene expression databases

BgeeiP07315.
CleanExiHS_CRYGC.
GenevestigatoriP07315.

Interactioni

Subunit structurei

Monomer.By similarity

Binary interactionsi

WithEntry#Exp.IntActNotes
CRYAAP024893EBI-6875941,EBI-6875961
CRYABP025113EBI-6875941,EBI-739060

Protein-protein interaction databases

BioGridi107810. 9 interactions.
IntActiP07315. 3 interactions.
MINTiMINT-221050.
STRINGi9606.ENSP00000282141.

Structurei

Secondary structure

1
174
Legend: HelixTurnBeta strand
Show more details
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Beta strandi2 – 87
Helixi9 – 113
Beta strandi12 – 209
Turni26 – 283
Beta strandi33 – 4715
Turni48 – 503
Beta strandi51 – 577
Beta strandi59 – 657
Helixi66 – 683
Beta strandi71 – 733
Beta strandi77 – 815
Beta strandi88 – 947
Turni95 – 973
Beta strandi98 – 1014
Helixi111 – 1155
Beta strandi122 – 1287
Beta strandi130 – 1356
Turni136 – 1383
Beta strandi139 – 1457
Beta strandi147 – 1504
Helixi153 – 1564
Beta strandi165 – 1684

3D structure databases

Select the link destinations:
PDBe
RCSB PDB
PDBj
Links Updated
EntryMethodResolution (Å)ChainPositionsPDBsum
1LFEmodel-A1-174[»]
ProteinModelPortaliP07315.
SMRiP07315. Positions 2-174.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini2 – 4039Beta/gamma crystallin 'Greek key' 1PROSITE-ProRule annotationAdd
BLAST
Domaini41 – 8343Beta/gamma crystallin 'Greek key' 2PROSITE-ProRule annotationAdd
BLAST
Domaini88 – 12841Beta/gamma crystallin 'Greek key' 3PROSITE-ProRule annotationAdd
BLAST
Domaini129 – 17143Beta/gamma crystallin 'Greek key' 4PROSITE-ProRule annotationAdd
BLAST

Region

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Regioni84 – 874Connecting peptide

Domaini

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

Sequence similaritiesi

Belongs to the beta/gamma-crystallin family.Curated
Contains 4 beta/gamma crystallin 'Greek key' domains.PROSITE-ProRule annotation

Keywords - Domaini

Repeat

Phylogenomic databases

eggNOGiNOG321245.
GeneTreeiENSGT00760000118812.
HOGENOMiHOG000234389.
HOVERGENiHBG003364.
InParanoidiP07315.
OMAiCMERAVR.
OrthoDBiEOG70CR7Z.
PhylomeDBiP07315.

Family and domain databases

InterProiIPR001064. Beta/gamma_crystallin.
IPR011024. G_crystallin-rel.
[Graphical view]
PfamiPF00030. Crystall. 2 hits.
[Graphical view]
PRINTSiPR01367. BGCRYSTALLIN.
SMARTiSM00247. XTALbg. 2 hits.
[Graphical view]
SUPFAMiSSF49695. SSF49695. 1 hit.
PROSITEiPS50915. CRYSTALLIN_BETA_GAMMA. 4 hits.
[Graphical view]

Sequencei

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

P07315-1 [UniParc]FASTAAdd to Basket

« Hide

        10         20         30         40         50
MGKITFYEDR AFQGRSYETT TDCPNLQPYF SRCNSIRVES GCWMLYERPN
60 70 80 90 100
YQGQQYLLRR GEYPDYQQWM GLSDSIRSCC LIPQTVSHRL RLYEREDHKG
110 120 130 140 150
LMMELSEDCP SIQDRFHLSE IRSLHVLEGC WVLYELPNYR GRQYLLRPQE
160 170
YRRCQDWGAM DAKAGSLRRV VDLY
Length:174
Mass (Da):20,879
Last modified:January 23, 2007 - v2
Checksum:iB01DC167171A7668
GO

Mass spectrometryi

Molecular mass is 20747±0.2 Da from positions 2 - 174. Determined by ESI. 1 Publication

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti5 – 51T → P in CTRCT2; affects protein-protein interactions. 1 Publication
VAR_021142
Natural varianti6 – 61F → L.
Corresponds to variant rs2242072 [ dbSNP | Ensembl ].
VAR_038432
Natural varianti48 – 481R → H.2 Publications
Corresponds to variant rs61751949 [ dbSNP | Ensembl ].
VAR_021143
Natural varianti129 – 1291G → C in CTRCT2. 1 Publication
VAR_067212
Natural varianti169 – 1691R → W in CTRCT2; congenital lamellar cataract. 1 Publication
VAR_021144

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
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.
CCDSiCCDS2379.1.
PIRiB24520. CYHUG2.
RefSeqiNP_066269.1. NM_020989.3.
UniGeneiHs.72910.

Genome annotation databases

EnsembliENST00000282141; ENSP00000282141; ENSG00000163254.
GeneIDi1420.
KEGGihsa:1420.
UCSCiuc002vco.4. human.

Polymorphism databases

DMDMi117464.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Web resourcesi

Eye disease Crystallin, gamma-C (CRYGC)

Leiden Open Variation Database (LOVD)

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
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 .
CCDSi CCDS2379.1.
PIRi B24520. CYHUG2.
RefSeqi NP_066269.1. NM_020989.3.
UniGenei Hs.72910.

3D structure databases

Select the link destinations:
PDBe
RCSB PDB
PDBj
Links Updated
Entry Method Resolution (Å) Chain Positions PDBsum
1LFE model - A 1-174 [» ]
ProteinModelPortali P07315.
SMRi P07315. Positions 2-174.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 107810. 9 interactions.
IntActi P07315. 3 interactions.
MINTi MINT-221050.
STRINGi 9606.ENSP00000282141.

PTM databases

PhosphoSitei P07315.

Polymorphism databases

DMDMi 117464.

Proteomic databases

PaxDbi P07315.
PeptideAtlasi P07315.
PRIDEi P07315.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000282141 ; ENSP00000282141 ; ENSG00000163254 .
GeneIDi 1420.
KEGGi hsa:1420.
UCSCi uc002vco.4. human.

Organism-specific databases

CTDi 1420.
GeneCardsi GC02M208992.
HGNCi HGNC:2410. CRYGC.
MIMi 123680. gene.
604307. phenotype.
neXtProti NX_P07315.
Orphaneti 1377. Cataract-microcornea syndrome.
98986. Coppock-like cataract.
98984. Pulverulent cataract.
98995. Zonular cataract.
PharmGKBi PA26917.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG321245.
GeneTreei ENSGT00760000118812.
HOGENOMi HOG000234389.
HOVERGENi HBG003364.
InParanoidi P07315.
OMAi CMERAVR.
OrthoDBi EOG70CR7Z.
PhylomeDBi P07315.

Miscellaneous databases

GeneWikii CRYGC.
GenomeRNAii 1420.
NextBioi 5807.
PROi P07315.
SOURCEi Search...

Gene expression databases

Bgeei P07315.
CleanExi HS_CRYGC.
Genevestigatori P07315.

Family and domain databases

InterProi IPR001064. Beta/gamma_crystallin.
IPR011024. G_crystallin-rel.
[Graphical view ]
Pfami PF00030. Crystall. 2 hits.
[Graphical view ]
PRINTSi PR01367. BGCRYSTALLIN.
SMARTi SM00247. XTALbg. 2 hits.
[Graphical view ]
SUPFAMi SSF49695. SSF49695. 1 hit.
PROSITEi PS50915. CRYSTALLIN_BETA_GAMMA. 4 hits.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  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.
    , 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. 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. 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.

Entry informationi

Entry nameiCRGC_HUMAN
AccessioniPrimary (citable) accession number: P07315
Secondary accession number(s): Q53R50
Entry historyi
Integrated into UniProtKB/Swiss-Prot: April 1, 1988
Last sequence update: January 23, 2007
Last modified: October 29, 2014
This is version 145 of the entry and version 2 of the sequence. [Complete history]
Entry statusiReviewed (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.

Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Direct protein sequencing, Reference proteome

Documents

  1. Human chromosome 2
    Human chromosome 2: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3