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Protein

Gamma-crystallin B

Gene

CRYGB

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

Functioni

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

GO - Molecular functioni

  • structural constituent of eye lens Source: UniProtKB

GO - Biological processi

Keywordsi

Molecular functionEye 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
Proteomesi
  • UP000005640 Componenti: Chromosome 2

Organism-specific databases

EuPathDBiHostDB:ENSG00000182187.3
HGNCiHGNC:2409 CRYGB
MIMi123670 gene
neXtProtiNX_P07316

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Pathology & Biotechi

Involvement in diseasei

Cataract 39, multiple types (CTRCT39)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn 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.
See also OMIM:615188

Keywords - Diseasei

Cataract

Organism-specific databases

DisGeNETi1419
MalaCardsiCRYGB
MIMi615188 phenotype
OpenTargetsiENSG00000182187
Orphaneti98988 Early-onset anterior polar cataract
441452 Early-onset lamellar cataract
98994 Total early-onset cataract
PharmGKBiPA26916

Polymorphism and mutation databases

BioMutaiCRYGB
DMDMi311033463

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000575861 – 175Gamma-crystallin BAdd BLAST175

Proteomic databases

PaxDbiP07316
PeptideAtlasiP07316
PRIDEiP07316
ProteomicsDBi51986

PTM databases

iPTMnetiP07316
PhosphoSitePlusiP07316

Expressioni

Gene expression databases

BgeeiENSG00000182187 Expressed in 14 organ(s), highest expression level in substantia nigra
CleanExiHS_CRYGB
GenevisibleiP07316 HS

Interactioni

Subunit structurei

Monomer.By similarity

Protein-protein interaction databases

BioGridi107809, 1 interactor
STRINGi9606.ENSP00000260988

Structurei

Secondary structure

1175
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

ProteinModelPortaliP07316
SMRiP07316
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiP07316

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini2 – 40Beta/gamma crystallin 'Greek key' 1PROSITE-ProRule annotationAdd BLAST39
Domaini41 – 83Beta/gamma crystallin 'Greek key' 2PROSITE-ProRule annotationAdd BLAST43
Domaini89 – 129Beta/gamma crystallin 'Greek key' 3PROSITE-ProRule annotationAdd BLAST41
Domaini130 – 172Beta/gamma crystallin 'Greek key' 4PROSITE-ProRule annotationAdd BLAST43

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni84 – 88Connecting peptide5

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

Keywords - Domaini

Repeat

Phylogenomic databases

eggNOGiENOG410IWCR Eukaryota
ENOG411298R LUCA
GeneTreeiENSGT00760000118812
HOGENOMiHOG000234389
HOVERGENiHBG003364
InParanoidiP07316
OMAiQMSEITD
OrthoDBiEOG091G0L2P
PhylomeDBiP07316

Family and domain databases

InterProiView protein in InterPro
IPR001064 Beta/gamma_crystallin
IPR011024 G_crystallin-like
PfamiView protein in Pfam
PF00030 Crystall, 2 hits
PRINTSiPR01367 BGCRYSTALLIN
SMARTiView protein in SMART
SM00247 XTALbg, 2 hits
SUPFAMiSSF49695 SSF49695, 1 hit
PROSITEiView protein in PROSITE
PS50915 CRYSTALLIN_BETA_GAMMA, 4 hits

Sequencei

Sequence statusi: Complete.

P07316-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MGKITFYEDR AFQGRSYECT TDCPNLQPYF SRCNSIRVES GCWMIYERPN
60 70 80 90 100
YQGHQYFLRR GEYPDYQQWM GLSDSIRSCC LIPPHSGAYR MKIYDRDELR
110 120 130 140 150
GQMSELTDDC ISVQDRFHLT EIHSLNVLEG SWILYEMPNY RGRQYLLRPG
160 170
EYRRFLDWGA PNAKVGSLRR VMDLY
Length:175
Mass (Da):20,908
Last modified:November 2, 2010 - v3
Checksum:iE0B605353FC62AFC
GO

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_02114073S → I1 Publication1
Natural variantiVAR_02951790R → T. Corresponds to variant dbSNP:rs2241980Ensembl.1
Natural variantiVAR_021141111I → L5 PublicationsCorresponds to variant dbSNP:rs796287Ensembl.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
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.5 human

Keywords - Coding sequence diversityi

Polymorphism

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
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

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB 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
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi107809, 1 interactor
STRINGi9606.ENSP00000260988

PTM databases

iPTMnetiP07316
PhosphoSitePlusiP07316

Polymorphism and mutation databases

BioMutaiCRYGB
DMDMi311033463

Proteomic databases

PaxDbiP07316
PeptideAtlasiP07316
PRIDEiP07316
ProteomicsDBi51986

Protocols and materials databases

DNASUi1419
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000260988; ENSP00000260988; ENSG00000182187
GeneIDi1419
KEGGihsa:1419
UCSCiuc002vcp.5 human

Organism-specific databases

CTDi1419
DisGeNETi1419
EuPathDBiHostDB:ENSG00000182187.3
GeneCardsiCRYGB
H-InvDBiHIX0029984
HGNCiHGNC:2409 CRYGB
MalaCardsiCRYGB
MIMi123670 gene
615188 phenotype
neXtProtiNX_P07316
OpenTargetsiENSG00000182187
Orphaneti98988 Early-onset anterior polar cataract
441452 Early-onset lamellar cataract
98994 Total early-onset cataract
PharmGKBiPA26916
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IWCR Eukaryota
ENOG411298R LUCA
GeneTreeiENSGT00760000118812
HOGENOMiHOG000234389
HOVERGENiHBG003364
InParanoidiP07316
OMAiQMSEITD
OrthoDBiEOG091G0L2P
PhylomeDBiP07316

Miscellaneous databases

EvolutionaryTraceiP07316
GeneWikiiCRYGB
GenomeRNAii1419
PROiPR:P07316
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000182187 Expressed in 14 organ(s), highest expression level in substantia nigra
CleanExiHS_CRYGB
GenevisibleiP07316 HS

Family and domain databases

InterProiView protein in InterPro
IPR001064 Beta/gamma_crystallin
IPR011024 G_crystallin-like
PfamiView protein in Pfam
PF00030 Crystall, 2 hits
PRINTSiPR01367 BGCRYSTALLIN
SMARTiView protein in SMART
SM00247 XTALbg, 2 hits
SUPFAMiSSF49695 SSF49695, 1 hit
PROSITEiView protein in PROSITE
PS50915 CRYSTALLIN_BETA_GAMMA, 4 hits
ProtoNetiSearch...

Entry informationi

Entry nameiCRGB_HUMAN
AccessioniPrimary (citable) accession number: P07316
Secondary accession number(s): Q17RB5, Q53ST2
Entry historyiIntegrated into UniProtKB/Swiss-Prot: April 1, 1988
Last sequence update: November 2, 2010
Last modified: November 7, 2018
This is version 156 of the entry and version 3 of the sequence. See 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. SIMILARITY comments
    Index of protein domains and families
  2. Human chromosome 2
    Human chromosome 2: entries, gene names and cross-references to MIM
  3. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  6. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

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