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Protein

Beta-crystallin B3

Gene

CRYBB3

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

GO - Biological processi

  • visual perception Source: ProtInc

Keywordsi

Molecular functionEye lens protein

Enzyme and pathway databases

SIGNORiP26998

Names & Taxonomyi

Protein namesi
Recommended name:
Beta-crystallin B3
Alternative name(s):
Beta-B3 crystallin
Cleaved into the following chain:
Gene namesi
Name:CRYBB3
Synonyms:CRYB3
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 22

Organism-specific databases

EuPathDBiHostDB:ENSG00000100053.9
HGNCiHGNC:2400 CRYBB3
MIMi123630 gene
neXtProtiNX_P26998

Pathology & Biotechi

Involvement in diseasei

Cataract 22, multiple types (CTRCT22)2 Publications
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. CTRCT22 includes nuclear cataract among others. Nuclear cataracts affect the central nucleus of the eye, and are often not highly visually significant. The density of the opacities varies greatly from fine dots to a dense, white and chalk-like, central cataract. The condition is usually bilateral. Nuclear cataracts are often combined with opacified cortical fibers encircling the nuclear opacity, which are referred to as cortical riders.
See also OMIM:609741
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_025280165G → R in CTRCT22. 1 PublicationCorresponds to variant dbSNP:rs74315490EnsemblClinVar.1
Natural variantiVAR_070031194V → E in CTRCT22. 1 PublicationCorresponds to variant dbSNP:rs587777601EnsemblClinVar.1

Keywords - Diseasei

Cataract, Disease mutation

Organism-specific databases

DisGeNETi1417
MalaCardsiCRYBB3
MIMi609741 phenotype
OpenTargetsiENSG00000100053
Orphaneti98988 Early-onset anterior polar cataract
98991 Early-onset nuclear cataract
PharmGKBiPA26914

Polymorphism and mutation databases

DMDMi311033476

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000575601 – 211Beta-crystallin B3Add BLAST211
Initiator methionineiRemoved; alternateBy similarity
ChainiPRO_00004217742 – 211Beta-crystallin B3, N-terminally processedAdd BLAST210

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei1N-acetylmethionine1 Publication1
Modified residuei2N-acetylalanine; in Beta-crystallin B3, N-terminally processedBy similarity1

Keywords - PTMi

Acetylation

Proteomic databases

PaxDbiP26998
PeptideAtlasiP26998
PRIDEiP26998
ProteomicsDBi54372

PTM databases

iPTMnetiP26998
PhosphoSitePlusiP26998

Expressioni

Gene expression databases

BgeeiENSG00000100053 Expressed in 86 organ(s), highest expression level in right lobe of liver
CleanExiHS_CRYBB3
ExpressionAtlasiP26998 baseline and differential
GenevisibleiP26998 HS

Organism-specific databases

HPAiHPA055840

Interactioni

Subunit structurei

Homo/heterodimer, or complexes of higher-order. The structure of beta-crystallin oligomers seems to be stabilized through interactions between the N-terminal arms (By similarity).By similarity

Binary interactionsi

WithEntry#Exp.IntActNotes
CRYBA1P058135EBI-1965681,EBI-7043337

Protein-protein interaction databases

BioGridi107807, 4 interactors
IntActiP26998, 4 interactors
MINTiP26998
STRINGi9606.ENSP00000215855

Structurei

Secondary structure

1211
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

ProteinModelPortaliP26998
SMRiP26998
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini24 – 63Beta/gamma crystallin 'Greek key' 1PROSITE-ProRule annotationAdd BLAST40
Domaini64 – 108Beta/gamma crystallin 'Greek key' 2PROSITE-ProRule annotationAdd BLAST45
Domaini114 – 155Beta/gamma crystallin 'Greek key' 3PROSITE-ProRule annotationAdd BLAST42
Domaini156 – 198Beta/gamma crystallin 'Greek key' 4PROSITE-ProRule annotationAdd BLAST43

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni1 – 23N-terminal armAdd BLAST23
Regioni109 – 113Connecting peptide5
Regioni200 – 211C-terminal armAdd BLAST12

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

eggNOGiENOG410IJYD Eukaryota
ENOG410Y7P1 LUCA
GeneTreeiENSGT00760000118812
HOGENOMiHOG000234388
HOVERGENiHBG003364
InParanoidiP26998
OMAiEYPRWST
OrthoDBiEOG091G0JIZ
PhylomeDBiP26998
TreeFamiTF331401

Family and domain databases

InterProiView protein in InterPro
IPR001064 Beta/gamma_crystallin
IPR033115 CRYBB3
IPR011024 G_crystallin-like
PANTHERiPTHR11818:SF13 PTHR11818:SF13, 1 hit
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

Sequence (1+)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry has 1 described isoform and 1 potential isoform that is computationally mapped.Show allAlign All

P26998-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MAEQHGAPEQ AAAGKSHGDL GGSYKVILYE LENFQGKRCE LSAECPSLTD
60 70 80 90 100
SLLEKVGSIQ VESGPWLAFE SRAFRGEQFV LEKGDYPRWD AWSNSRDSDS
110 120 130 140 150
LLSLRPLNID SPHHKLHLFE NPAFSGRKME IVDDDVPSLW AHGFQDRVAS
160 170 180 190 200
VRAINGTWVG YEFPGYRGRQ YVFERGEYRH WNEWDASQPQ LQSVRRIRDQ
210
KWHKRGRFPS S
Length:211
Mass (Da):24,252
Last modified:November 2, 2010 - v4
Checksum:iE5ABA1165C7B45BA
GO

Computationally mapped potential isoform sequencesi

There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
B1AHR5B1AHR5_HUMAN
Beta-crystallin B3
CRYBB3
113Annotation score:

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti130E → D in CAA33242 (PubMed:2499686).Curated1
Sequence conflicti173F → L in CAA33242 (PubMed:2499686).Curated1

Mass spectrometryi

Molecular mass is 24222±3 Da from positions 1 - 211. Determined by ESI. 1 Publication

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_025277105R → Q1 PublicationCorresponds to variant dbSNP:rs17670506EnsemblClinVar.1
Natural variantiVAR_025278113H → D3 PublicationsCorresponds to variant dbSNP:rs9608378EnsemblClinVar.1
Natural variantiVAR_025279159V → I. Corresponds to variant dbSNP:rs4455261EnsemblClinVar.1
Natural variantiVAR_025280165G → R in CTRCT22. 1 PublicationCorresponds to variant dbSNP:rs74315490EnsemblClinVar.1
Natural variantiVAR_070031194V → E in CTRCT22. 1 PublicationCorresponds to variant dbSNP:rs587777601EnsemblClinVar.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
CR456427 mRNA Translation: CAG30313.1
Z99916 Genomic DNA No translation available.
BC069479 mRNA Translation: AAH69479.2
BC102021 mRNA Translation: AAI02022.1
BC102022 mRNA Translation: AAI02023.1
BC107482 mRNA Translation: AAI07483.1
U71216 mRNA Translation: AAC50972.1
X15144, X15145, X15146 Genomic DNA Translation: CAA33242.2
CCDSiCCDS13830.1
PIRiS10089
RefSeqiNP_004067.1, NM_004076.4
UniGeneiHs.533022

Genome annotation databases

EnsembliENST00000215855; ENSP00000215855; ENSG00000100053
GeneIDi1417
KEGGihsa:1417
UCSCiuc003abo.3 human

Keywords - Coding sequence diversityi

Polymorphism

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
CR456427 mRNA Translation: CAG30313.1
Z99916 Genomic DNA No translation available.
BC069479 mRNA Translation: AAH69479.2
BC102021 mRNA Translation: AAI02022.1
BC102022 mRNA Translation: AAI02023.1
BC107482 mRNA Translation: AAI07483.1
U71216 mRNA Translation: AAC50972.1
X15144, X15145, X15146 Genomic DNA Translation: CAA33242.2
CCDSiCCDS13830.1
PIRiS10089
RefSeqiNP_004067.1, NM_004076.4
UniGeneiHs.533022

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
3QK3X-ray1.95A/B/C21-199[»]
ProteinModelPortaliP26998
SMRiP26998
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi107807, 4 interactors
IntActiP26998, 4 interactors
MINTiP26998
STRINGi9606.ENSP00000215855

PTM databases

iPTMnetiP26998
PhosphoSitePlusiP26998

Polymorphism and mutation databases

DMDMi311033476

Proteomic databases

PaxDbiP26998
PeptideAtlasiP26998
PRIDEiP26998
ProteomicsDBi54372

Protocols and materials databases

DNASUi1417
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000215855; ENSP00000215855; ENSG00000100053
GeneIDi1417
KEGGihsa:1417
UCSCiuc003abo.3 human

Organism-specific databases

CTDi1417
DisGeNETi1417
EuPathDBiHostDB:ENSG00000100053.9
GeneCardsiCRYBB3
H-InvDBiHIX0041179
HGNCiHGNC:2400 CRYBB3
HPAiHPA055840
MalaCardsiCRYBB3
MIMi123630 gene
609741 phenotype
neXtProtiNX_P26998
OpenTargetsiENSG00000100053
Orphaneti98988 Early-onset anterior polar cataract
98991 Early-onset nuclear cataract
PharmGKBiPA26914
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IJYD Eukaryota
ENOG410Y7P1 LUCA
GeneTreeiENSGT00760000118812
HOGENOMiHOG000234388
HOVERGENiHBG003364
InParanoidiP26998
OMAiEYPRWST
OrthoDBiEOG091G0JIZ
PhylomeDBiP26998
TreeFamiTF331401

Enzyme and pathway databases

SIGNORiP26998

Miscellaneous databases

GeneWikiiCRYBB3
GenomeRNAii1417
PROiPR:P26998
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000100053 Expressed in 86 organ(s), highest expression level in right lobe of liver
CleanExiHS_CRYBB3
ExpressionAtlasiP26998 baseline and differential
GenevisibleiP26998 HS

Family and domain databases

InterProiView protein in InterPro
IPR001064 Beta/gamma_crystallin
IPR033115 CRYBB3
IPR011024 G_crystallin-like
PANTHERiPTHR11818:SF13 PTHR11818:SF13, 1 hit
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 nameiCRBB3_HUMAN
AccessioniPrimary (citable) accession number: P26998
Secondary accession number(s): Q3B7S9
, Q3T1B7, Q6ISK6, Q92965, Q9UH09
Entry historyiIntegrated into UniProtKB/Swiss-Prot: August 1, 1992
Last sequence update: November 2, 2010
Last modified: November 7, 2018
This is version 172 of the entry and version 4 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 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. Human chromosome 22
    Human chromosome 22: entries, gene names and cross-references to MIM
  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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