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P07316

- CRGB_HUMAN

UniProt

P07316 - CRGB_HUMAN

Protein

Gamma-crystallin B

Gene

CRYGB

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
    Sitei69 – 691Susceptible to oxidation
    Sitei70 – 701Susceptible to oxidation

    GO - Molecular functioni

    1. structural constituent of eye lens Source: UniProtKB

    GO - Biological processi

    1. lens fiber cell morphogenesis Source: Ensembl
    2. visual perception Source: UniProtKB

    Keywords - Molecular functioni

    Eye lens protein

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Gamma-crystallin B
    Alternative name(s):
    Gamma-B-crystallin
    Gamma-crystallin 1-2
    Gene namesi
    Name:CRYGB
    Synonyms:CRYG2
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 2

    Organism-specific databases

    HGNCiHGNC:2409. CRYGB.

    Subcellular locationi

    GO - Cellular componenti

    1. cytoplasm Source: Ensembl
    2. nucleus Source: Ensembl

    Pathology & Biotechi

    Involvement in diseasei

    Cataract 39, multiple types (CTRCT39) [MIM:615188]: 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. In general, the more posteriorly located and dense an opacity, the greater the impact on visual function. CTRCT39 includes lamellar, anterior polar, and complete cataracts.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.

    Keywords - Diseasei

    Cataract

    Organism-specific databases

    MIMi615188. phenotype.
    Orphaneti98988. Anterior polar cataract.
    98994. Total congenital cataract.
    98995. Zonular cataract.
    PharmGKBiPA26916.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Initiator methioninei1 – 11RemovedBy similarity
    Chaini2 – 175174Gamma-crystallin BPRO_0000057586Add
    BLAST

    Keywords - PTMi

    Oxidation

    Proteomic databases

    PaxDbiP07316.
    PeptideAtlasiP07316.
    PRIDEiP07316.

    PTM databases

    PhosphoSiteiP07316.

    Expressioni

    Gene expression databases

    BgeeiP07316.
    CleanExiHS_CRYGB.
    GenevestigatoriP07316.

    Interactioni

    Subunit structurei

    Monomer.By similarity

    Protein-protein interaction databases

    STRINGi9606.ENSP00000260988.

    Structurei

    Secondary structure

    1
    175
    Legend: HelixTurnBeta strand
    Show more details
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Beta strandi3 – 97
    Turni10 – 123
    Beta strandi13 – 219
    Turni27 – 293
    Beta strandi34 – 4815
    Turni49 – 513
    Beta strandi52 – 587
    Beta strandi60 – 656
    Helixi66 – 694
    Beta strandi72 – 743
    Beta strandi78 – 825
    Beta strandi90 – 967
    Turni97 – 993
    Beta strandi100 – 1089
    Helixi113 – 1175
    Beta strandi124 – 1307
    Beta strandi132 – 1376
    Turni138 – 1403
    Beta strandi141 – 1477
    Beta strandi149 – 1524
    Helixi155 – 1584
    Beta strandi161 – 1644
    Beta strandi167 – 1704

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    EntryMethodResolution (Å)ChainPositionsPDBsum
    1LEUmodel-A1-175[»]
    1MYVmodel-A1-175[»]
    1MYXmodel-A1-175[»]
    1MYYmodel-A1-175[»]
    1MZ1model-A1-175[»]
    1MZ2model-A1-175[»]
    1MZ3model-A1-175[»]
    2JDFX-ray1.70A2-175[»]
    2JDGX-ray2.00A2-175[»]
    ProteinModelPortaliP07316.
    SMRiP07316. Positions 2-175.
    ModBaseiSearch...
    MobiDBiSearch...

    Miscellaneous databases

    EvolutionaryTraceiP07316.

    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
    Domaini89 – 12941Beta/gamma crystallin 'Greek key' 3PROSITE-ProRule annotationAdd
    BLAST
    Domaini130 – 17243Beta/gamma crystallin 'Greek key' 4PROSITE-ProRule annotationAdd
    BLAST

    Region

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Regioni84 – 885Connecting 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

    eggNOGiNOG309484.
    HOGENOMiHOG000234389.
    HOVERGENiHBG003364.
    InParanoidiP07316.
    OMAiFRGQMSE.
    OrthoDBiEOG70CR7Z.
    PhylomeDBiP07316.

    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.

    P07316-1 [UniParc]FASTAAdd to Basket

    « Hide

    MGKITFYEDR AFQGRSYECT TDCPNLQPYF SRCNSIRVES GCWMIYERPN    50
    YQGHQYFLRR GEYPDYQQWM GLSDSIRSCC LIPPHSGAYR MKIYDRDELR 100
    GQMSELTDDC ISVQDRFHLT EIHSLNVLEG SWILYEMPNY RGRQYLLRPG 150
    EYRRFLDWGA PNAKVGSLRR VMDLY 175
    Length:175
    Mass (Da):20,908
    Last modified:November 2, 2010 - v3
    Checksum:iE0B605353FC62AFC
    GO

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti73 – 731S → I.1 Publication
    VAR_021140
    Natural varianti90 – 901R → T.
    Corresponds to variant rs2241980 [ dbSNP | Ensembl ].
    VAR_029517
    Natural varianti111 – 1111I → L.5 Publications
    Corresponds to variant rs796287 [ dbSNP | Ensembl ].
    VAR_021141

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    M11971, M11970 Genomic DNA. Translation: AAA52113.1.
    M19364 Genomic DNA. Translation: AAA52109.1.
    AC016697 Genomic DNA. Translation: AAX93219.1.
    BC074944 mRNA. Translation: AAH74944.1.
    BC074945 mRNA. Translation: AAH74945.1.
    BC117384 mRNA. Translation: AAI17385.1.
    BC117388 mRNA. Translation: AAI17389.1.
    CCDSiCCDS2380.1.
    PIRiA24520. CYHUG1.
    RefSeqiNP_005201.2. NM_005210.3.
    UniGeneiHs.248102.

    Genome annotation databases

    EnsembliENST00000260988; ENSP00000260988; ENSG00000182187.
    GeneIDi1419.
    KEGGihsa:1419.
    UCSCiuc002vcp.4. human.

    Polymorphism databases

    DMDMi311033463.

    Keywords - Coding sequence diversityi

    Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    M11971 , M11970 Genomic DNA. Translation: AAA52113.1 .
    M19364 Genomic DNA. Translation: AAA52109.1 .
    AC016697 Genomic DNA. Translation: AAX93219.1 .
    BC074944 mRNA. Translation: AAH74944.1 .
    BC074945 mRNA. Translation: AAH74945.1 .
    BC117384 mRNA. Translation: AAI17385.1 .
    BC117388 mRNA. Translation: AAI17389.1 .
    CCDSi CCDS2380.1.
    PIRi A24520. CYHUG1.
    RefSeqi NP_005201.2. NM_005210.3.
    UniGenei Hs.248102.

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    Entry Method Resolution (Å) Chain Positions PDBsum
    1LEU model - A 1-175 [» ]
    1MYV model - A 1-175 [» ]
    1MYX model - A 1-175 [» ]
    1MYY model - A 1-175 [» ]
    1MZ1 model - A 1-175 [» ]
    1MZ2 model - A 1-175 [» ]
    1MZ3 model - A 1-175 [» ]
    2JDF X-ray 1.70 A 2-175 [» ]
    2JDG X-ray 2.00 A 2-175 [» ]
    ProteinModelPortali P07316.
    SMRi P07316. Positions 2-175.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    STRINGi 9606.ENSP00000260988.

    PTM databases

    PhosphoSitei P07316.

    Polymorphism databases

    DMDMi 311033463.

    Proteomic databases

    PaxDbi P07316.
    PeptideAtlasi P07316.
    PRIDEi P07316.

    Protocols and materials databases

    DNASUi 1419.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000260988 ; ENSP00000260988 ; ENSG00000182187 .
    GeneIDi 1419.
    KEGGi hsa:1419.
    UCSCi uc002vcp.4. human.

    Organism-specific databases

    CTDi 1419.
    GeneCardsi GC02M209007.
    H-InvDB HIX0029984.
    HGNCi HGNC:2409. CRYGB.
    MIMi 123670. gene.
    615188. phenotype.
    neXtProti NX_P07316.
    Orphaneti 98988. Anterior polar cataract.
    98994. Total congenital cataract.
    98995. Zonular cataract.
    PharmGKBi PA26916.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG309484.
    HOGENOMi HOG000234389.
    HOVERGENi HBG003364.
    InParanoidi P07316.
    OMAi FRGQMSE.
    OrthoDBi EOG70CR7Z.
    PhylomeDBi P07316.

    Miscellaneous databases

    EvolutionaryTracei P07316.
    GeneWikii CRYGB.
    GenomeRNAii 1419.
    NextBioi 5803.
    PROi P07316.
    SOURCEi Search...

    Gene expression databases

    Bgeei P07316.
    CleanExi HS_CRYGB.
    Genevestigatori P07316.

    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], VARIANT LEU-111.
    2. "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], VARIANT LEU-111.
    3. "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].
    4. "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], VARIANT LEU-111.
      Tissue: Testis.
    5. "Novel crystallin gamma B mutations in a Kuwaiti family with autosomal dominant congenital cataracts reveal genetic and clinical heterogeneity."
      Al Fadhli S., Abdelmoaty S., Al-Hajeri A., Behbehani A., Alkuraya F.
      Mol. Vis. 18:2931-2936(2012) [PubMed] [Europe PMC] [Abstract]
      Cited for: INVOLVEMENT IN CTRCT39.
    6. "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.
    7. "Prediction of possible sites for posttranslational modifications in human gamma crystallins: effect of glycation on the structure of human gamma-B-crystallin as analyzed by molecular modeling."
      Salim A., Bano A., Zaidi Z.H.
      Proteins 53:162-173(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: 3D-STRUCTURE MODELING.
    8. "Affilin-novel binding molecules based on human gamma-B-crystallin, an all beta-sheet protein."
      Ebersbach H., Fiedler E., Scheuermann T., Fiedler M., Stubbs M.T., Reimann C., Proetzel G., Rudolph R., Fiedler U.
      J. Mol. Biol. 372:172-185(2007) [PubMed] [Europe PMC] [Abstract]
      Cited for: X-RAY CRYSTALLOGRAPHY (1.7 ANGSTROMS) OF 2-174.
    9. "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: VARIANTS ILE-73 AND LEU-111.
    10. "Gamma-D crystallin gene (CRYGD) mutation causes autosomal dominant congenital cerulean cataracts."
      Nandrot E., Slingsby C., Basak A., Cherif-Chefchaouni M., Benazzouz B., Hajaji Y., Boutayeb S., Gribouval O., Arbogast L., Berraho A., Abitbol M., Hilal L.
      J. Med. Genet. 40:262-267(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT LEU-111.

    Entry informationi

    Entry nameiCRGB_HUMAN
    AccessioniPrimary (citable) accession number: P07316
    Secondary accession number(s): Q17RB5, Q53ST2
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: April 1, 1988
    Last sequence update: November 2, 2010
    Last modified: October 1, 2014
    This is version 132 of the entry and version 3 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, 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