Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Basket 0
(max 400 entries)x

Your basket is currently empty.

Select item(s) and click on "Add to basket" to create your own collection here
(400 entries max)

P07315

- CRGC_HUMAN

UniProt

P07315 - CRGC_HUMAN

Protein

Gamma-crystallin C

Gene

CRYGC

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

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

    Sites

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sitei56 – 561Susceptible to oxidation
    Sitei69 – 691Susceptible to oxidation
    Sitei70 – 701Susceptible to oxidation
    Sitei131 – 1311Susceptible to oxidation

    GO - Molecular functioni

    1. protein binding Source: UniProtKB
    2. structural constituent of eye lens Source: UniProtKB

    GO - Biological processi

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

    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

    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, Oxidation

    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. 8 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.
    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

    MGKITFYEDR AFQGRSYETT TDCPNLQPYF SRCNSIRVES GCWMLYERPN    50
    YQGQQYLLRR GEYPDYQQWM GLSDSIRSCC LIPQTVSHRL RLYEREDHKG 100
    LMMELSEDCP SIQDRFHLSE IRSLHVLEGC WVLYELPNYR GRQYLLRPQE 150
    YRRCQDWGAM DAKAGSLRRV VDLY 174
    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. 8 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.
    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

    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 1, 2014
    This is version 144 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