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P07316 (CRGB_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 131. 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·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Gamma-crystallin B
Alternative name(s):
Gamma-B-crystallin
Gamma-crystallin 1-2
Gene names
Name:CRYGB
Synonyms:CRYG2
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length175 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 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. Ref.5

Sequence similarities

Belongs to the beta/gamma-crystallin family.

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

Ontologies

Keywords
   Coding sequence diversityPolymorphism
   DiseaseCataract
   DomainRepeat
   Molecular functionEye lens protein
   PTMOxidation
   Technical term3D-structure
Complete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processlens fiber cell morphogenesis

Inferred from electronic annotation. Source: Ensembl

visual perception

Non-traceable author statement Ref.6. Source: UniProtKB

   Cellular_componentcytoplasm

Inferred from electronic annotation. Source: Ensembl

nucleus

Inferred from electronic annotation. Source: Ensembl

   Molecular_functionstructural constituent of eye lens

Non-traceable author statement Ref.6. Source: UniProtKB

Complete GO annotation...

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Initiator methionine11Removed By similarity
Chain2 – 175174Gamma-crystallin B
PRO_0000057586

Regions

Domain2 – 4039Beta/gamma crystallin 'Greek key' 1
Domain41 – 8343Beta/gamma crystallin 'Greek key' 2
Domain89 – 12941Beta/gamma crystallin 'Greek key' 3
Domain130 – 17243Beta/gamma crystallin 'Greek key' 4
Region84 – 885Connecting peptide

Sites

Site691Susceptible to oxidation
Site701Susceptible to oxidation

Natural variations

Natural variant731S → I. Ref.9
VAR_021140
Natural variant901R → T.
Corresponds to variant rs2241980 [ dbSNP | Ensembl ].
VAR_029517
Natural variant1111I → L. Ref.1 Ref.2 Ref.4 Ref.9 Ref.10
Corresponds to variant rs796287 [ dbSNP | Ensembl ].
VAR_021141

Secondary structure

...................................... 175
Helix Strand Turn

Details...

Sequences

Sequence LengthMass (Da)Tools
P07316 [UniParc].

Last modified November 2, 2010. Version 3.
Checksum: E0B605353FC62AFC

FASTA17520,908
        10         20         30         40         50         60 
MGKITFYEDR AFQGRSYECT TDCPNLQPYF SRCNSIRVES GCWMIYERPN YQGHQYFLRR 

        70         80         90        100        110        120 
GEYPDYQQWM GLSDSIRSCC LIPPHSGAYR MKIYDRDELR GQMSELTDDC ISVQDRFHLT 

       130        140        150        160        170 
EIHSLNVLEG SWILYEMPNY RGRQYLLRPG EYRRFLDWGA PNAKVGSLRR VMDLY 

« 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], 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. 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].
[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.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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.
CCDSCCDS2380.1.
PIRCYHUG1. A24520.
RefSeqNP_005201.2. NM_005210.3.
UniGeneHs.248102.

3D structure databases

PDBe
RCSB-PDB
PDBj
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[»]
ProteinModelPortalP07316.
SMRP07316. Positions 2-175.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

STRING9606.ENSP00000260988.

PTM databases

PhosphoSiteP07316.

Polymorphism databases

DMDM311033463.

Proteomic databases

PaxDbP07316.
PeptideAtlasP07316.
PRIDEP07316.

Protocols and materials databases

DNASU1419.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000260988; ENSP00000260988; ENSG00000182187.
GeneID1419.
KEGGhsa:1419.
UCSCuc002vcp.4. human.

Organism-specific databases

CTD1419.
GeneCardsGC02M209007.
H-InvDBHIX0029984.
HGNCHGNC:2409. CRYGB.
MIM123670. gene.
615188. phenotype.
neXtProtNX_P07316.
Orphanet98988. Anterior polar cataract.
98994. Total congenital cataract.
98995. Zonular cataract.
PharmGKBPA26916.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG309484.
HOGENOMHOG000234389.
HOVERGENHBG003364.
InParanoidP07316.
OMAFRGQMSE.
OrthoDBEOG70CR7Z.
PhylomeDBP07316.

Gene expression databases

BgeeP07316.
CleanExHS_CRYGB.
GenevestigatorP07316.

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

EvolutionaryTraceP07316.
GeneWikiCRYGB.
GenomeRNAi1419.
NextBio5803.
PROP07316.
SOURCESearch...

Entry information

Entry nameCRGB_HUMAN
AccessionPrimary (citable) accession number: P07316
Secondary accession number(s): Q17RB5, Q53ST2
Entry history
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 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