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P07316

- CRGB_HUMAN

UniProt

P07316 - CRGB_HUMAN

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Protein

Gamma-crystallin B

Gene
CRYGB, CRYG2
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.

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
Complete GO annotation...

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
Complete GO annotation...

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.
Note: The disease is caused by mutations affecting the gene represented in this entry.1 Publication

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 – 11Removed By 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.

Miscellaneous databases

EvolutionaryTraceiP07316.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini2 – 4039Beta/gamma crystallin 'Greek key' 1Add
BLAST
Domaini41 – 8343Beta/gamma crystallin 'Greek key' 2Add
BLAST
Domaini89 – 12941Beta/gamma crystallin 'Greek key' 3Add
BLAST
Domaini130 – 17243Beta/gamma crystallin 'Greek key' 4Add
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

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

« 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], 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: July 9, 2014
This is version 131 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

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