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P53673 (CRBA4_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 137. 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:
Beta-crystallin A4
Alternative name(s):
Beta-A4 crystallin
Gene names
Name:CRYBA4
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length196 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

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.

Domain

Has a two-domain beta-structure, folded into four very similar Greek key motifs.

Involvement in disease

Cataract 23 (CTRCT23) [MIM:610425]: 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. CTRCT23 is a zonular cataract. Zonular or lamellar cataracts are opacities, broad or narrow, usually consisting of powdery white dots affecting only certain layers or zones between the cortex and nucleus of an otherwise clear lens. The opacity may be so dense as to render the entire central region of the lens completely opaque, or so translucent that vision is hardly if at all impeded. Zonular cataracts generally do not involve the embryonic nucleus, though sometimes they involve the fetal nucleus. Usually sharply separated from a clear cortex outside them, they may have projections from their outer edges known as riders or spokes.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.6

Sequence similarities

Belongs to the beta/gamma-crystallin family.

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

Mass spectrometry

Molecular mass is 22285±3 Da from positions 2 - 196. Determined by ESI. Ref.1

Sequence caution

The sequence CAG30310.1 differs from that shown. Reason: Erroneous initiation.

Ontologies

Keywords
   Coding sequence diversityPolymorphism
   DiseaseCataract
Disease mutation
   DomainRepeat
   Molecular functionEye lens protein
   PTMAcetylation
Oxidation
   Technical term3D-structure
Complete proteome
Direct protein sequencing
Reference proteome
Gene Ontology (GO)
   Biological_processcamera-type eye development

Inferred from mutant phenotype Ref.6. Source: UniProtKB

visual perception

Inferred from mutant phenotype Ref.6. Source: UniProtKB

   Molecular_functionstructural constituent of eye lens

Inferred from electronic annotation. Source: UniProtKB-KW

Complete GO annotation...

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Initiator methionine11Removed Ref.1
Chain2 – 196195Beta-crystallin A4
PRO_0000057545

Regions

Domain12 – 5140Beta/gamma crystallin 'Greek key' 1
Domain52 – 9847Beta/gamma crystallin 'Greek key' 2
Domain105 – 14642Beta/gamma crystallin 'Greek key' 3
Domain147 – 19549Beta/gamma crystallin 'Greek key' 4
Region2 – 1110N-terminal arm
Region99 – 1046Connecting peptide

Sites

Site1491Susceptible to oxidation

Amino acid modifications

Modified residue21N-acetylthreonine Ref.1

Natural variations

Natural variant361V → M.
Corresponds to variant rs35520672 [ dbSNP | Ensembl ].
VAR_033824
Natural variant691L → P in CTRCT23; the patient has cataract and bilateral microphthalmia; the mutation is predicted to disrupt the beta-sheet structure of the protein. Ref.6
VAR_029528
Natural variant841T → M.
Corresponds to variant rs4277 [ dbSNP | Ensembl ].
VAR_014903
Natural variant941F → S in CTRCT23; modeling suggests that this substitution would significantly reduce the intrinsic stability of the crystalline monomer. Ref.6
VAR_029529

Secondary structure

....................................... 196
Helix Strand Turn

Details...

Sequences

Sequence LengthMass (Da)Tools
P53673 [UniParc].

Last modified January 23, 2007. Version 3.
Checksum: 104EC68E3CDE5740

FASTA19622,374
        10         20         30         40         50         60 
MTLQCTKSAG PWKMVVWDED GFQGRRHEFT AECPSVLELG FETVRSLKVL SGAWVGFEHA 

        70         80         90        100        110        120 
GFQGQQYILE RGEYPSWDAW GGNTAYPAER LTSFRPAACA NHRDSRLTIF EQENFLGKKG 

       130        140        150        160        170        180 
ELSDDYPSLQ AMGWEGNEVG SFHVHSGAWV CSQFPGYRGF QYVLECDHHS GDYKHFREWG 

       190 
SHAPTFQVQS IRRIQQ 

« Hide

References

« Hide 'large scale' references
[1]"Sequence analysis of betaA3, betaB3, and betaA4 crystallins completes the identification of the major proteins in young human lens."
Lampi K.J., Ma Z., Shih M., Shearer T.R., Smith J.B., Smith D.L., David L.L.
J. Biol. Chem. 272:2268-2275(1997) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA], PROTEIN SEQUENCE OF 14-25; 159-174 AND 178-192, CLEAVAGE OF INITIATOR METHIONINE, ACETYLATION AT THR-2, MASS SPECTROMETRY.
[2]"A genome annotation-driven approach to cloning the human ORFeome."
Collins J.E., Wright C.L., Edwards C.A., Davis M.P., Grinham J.A., Cole C.G., Goward M.E., Aguado B., Mallya M., Mokrab Y., Huckle E.J., Beare D.M., Dunham I.
Genome Biol. 5:R84.1-R84.11(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
[3]"The DNA sequence of human chromosome 22."
Dunham I., Hunt A.R., Collins J.E., Bruskiewich R., Beare D.M., Clamp M., Smink L.J., Ainscough R., Almeida J.P., Babbage A.K., Bagguley C., Bailey J., Barlow K.F., Bates K.N., Beasley O.P., Bird C.P., Blakey S.E., Bridgeman A.M. expand/collapse author list , Buck D., Burgess J., Burrill W.D., Burton J., Carder C., Carter N.P., Chen Y., Clark G., Clegg S.M., Cobley V.E., Cole C.G., Collier R.E., Connor R., Conroy D., Corby N.R., Coville G.J., Cox A.V., Davis J., Dawson E., Dhami P.D., Dockree C., Dodsworth S.J., Durbin R.M., Ellington A.G., Evans K.L., Fey J.M., Fleming K., French L., Garner A.A., Gilbert J.G.R., Goward M.E., Grafham D.V., Griffiths M.N.D., Hall C., Hall R.E., Hall-Tamlyn G., Heathcott R.W., Ho S., Holmes S., Hunt S.E., Jones M.C., Kershaw J., Kimberley A.M., King A., Laird G.K., Langford C.F., Leversha M.A., Lloyd C., Lloyd D.M., Martyn I.D., Mashreghi-Mohammadi M., Matthews L.H., Mccann O.T., Mcclay J., Mclaren S., McMurray A.A., Milne S.A., Mortimore B.J., Odell C.N., Pavitt R., Pearce A.V., Pearson D., Phillimore B.J.C.T., Phillips S.H., Plumb R.W., Ramsay H., Ramsey Y., Rogers L., Ross M.T., Scott C.E., Sehra H.K., Skuce C.D., Smalley S., Smith M.L., Soderlund C., Spragon L., Steward C.A., Sulston J.E., Swann R.M., Vaudin M., Wall M., Wallis J.M., Whiteley M.N., Willey D.L., Williams L., Williams S.A., Williamson H., Wilmer T.E., Wilming L., Wright C.L., Hubbard T., Bentley D.R., Beck S., Rogers J., Shimizu N., Minoshima S., Kawasaki K., Sasaki T., Asakawa S., Kudoh J., Shintani A., Shibuya K., Yoshizaki Y., Aoki N., Mitsuyama S., Roe B.A., Chen F., Chu L., Crabtree J., Deschamps S., Do A., Do T., Dorman A., Fang F., Fu Y., Hu P., Hua A., Kenton S., Lai H., Lao H.I., Lewis J., Lewis S., Lin S.-P., Loh P., Malaj E., Nguyen T., Pan H., Phan S., Qi S., Qian Y., Ray L., Ren Q., Shaull S., Sloan D., Song L., Wang Q., Wang Y., Wang Z., White J., Willingham D., Wu H., Yao Z., Zhan M., Zhang G., Chissoe S., Murray J., Miller N., Minx P., Fulton R., Johnson D., Bemis G., Bentley D., Bradshaw H., Bourne S., Cordes M., Du Z., Fulton L., Goela D., Graves T., Hawkins J., Hinds K., Kemp K., Latreille P., Layman D., Ozersky P., Rohlfing T., Scheet P., Walker C., Wamsley A., Wohldmann P., Pepin K., Nelson J., Korf I., Bedell J.A., Hillier L.W., Mardis E., Waterston R., Wilson R., Emanuel B.S., Shaikh T., Kurahashi H., Saitta S., Budarf M.L., McDermid H.E., Johnson A., Wong A.C.C., Morrow B.E., Edelmann L., Kim U.J., Shizuya H., Simon M.I., Dumanski J.P., Peyrard M., Kedra D., Seroussi E., Fransson I., Tapia I., Bruder C.E., O'Brien K.P., Wilkinson P., Bodenteich A., Hartman K., Hu X., Khan A.S., Lane L., Tilahun Y., Wright H.
Nature 402:489-495(1999) [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].
[5]"Regional fine mapping of the beta crystallin genes on chromosome 22 excludes these genes as physically linked markers for neurofibromatosis type 2."
Bijlsma E.K., Delattre O., Juyn J.A., Melot T., Westerveld A., Dumanski J.P., Thomas G., Hulsebos T.J.M.
Genes Chromosomes Cancer 8:112-118(1993) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 150-194.
[6]"CRYBA4, a novel human cataract gene, is also involved in microphthalmia."
Billingsley G., Santhiya S.T., Paterson A.D., Ogata K., Wodak S., Hosseini S.M., Manisastry S.M., Vijayalakshmi P., Gopinath P.M., Graw J., Heon E.
Am. J. Hum. Genet. 79:702-709(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS CTRCT23 PRO-69 AND SER-94.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
U59057 mRNA. Translation: AAC50970.1.
CR456424 mRNA. Translation: CAG30310.1. Different initiation.
Z95115 Genomic DNA. Translation: CAI17980.2.
BC069404 mRNA. Translation: AAH69404.1.
BC096171 mRNA. Translation: AAH96171.1.
BC096172 mRNA. Translation: AAH96172.1.
BC096173 mRNA. Translation: AAH96173.1.
BC096174 mRNA. Translation: AAH96174.1.
S67583 Genomic DNA. Translation: AAD13994.1.
CCDSCCDS13841.1.
PIRI54083.
RefSeqNP_001877.1. NM_001886.2.
UniGeneHs.57690.

3D structure databases

PDBe
RCSB-PDB
PDBj
EntryMethodResolution (Å)ChainPositionsPDBsum
3LWKX-ray1.70A8-196[»]
ProteinModelPortalP53673.
SMRP53673. Positions 8-196.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

IntActP53673. 2 interactions.
MINTMINT-5161963.
STRING9606.ENSP00000346805.

PTM databases

PhosphoSiteP53673.

Polymorphism databases

DMDM2506318.

Proteomic databases

PaxDbP53673.
PRIDEP53673.

Protocols and materials databases

DNASU1413.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000354760; ENSP00000346805; ENSG00000196431.
GeneID1413.
KEGGhsa:1413.
UCSCuc003acz.4. human.

Organism-specific databases

CTD1413.
GeneCardsGC22P027017.
HGNCHGNC:2396. CRYBA4.
MIM123631. gene.
610425. phenotype.
neXtProtNX_P53673.
Orphanet1377. Cataract-microcornea syndrome.
2543. Microphthalmia - cataract.
98995. Zonular cataract.
PharmGKBPA26910.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG39249.
HOGENOMHOG000234388.
HOVERGENHBG003364.
InParanoidP53673.
OMAFHVHSGA.
OrthoDBEOG7K9K40.
PhylomeDBP53673.
TreeFamTF331401.

Gene expression databases

BgeeP53673.
CleanExHS_CRYBA4.
GenevestigatorP53673.

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

EvolutionaryTraceP53673.
GeneWikiCRYBA4.
GenomeRNAi1413.
NextBio5781.
PROP53673.
SOURCESearch...

Entry information

Entry nameCRBA4_HUMAN
AccessionPrimary (citable) accession number: P53673
Secondary accession number(s): Q4VB22, Q6ICE4
Entry history
Integrated into UniProtKB/Swiss-Prot: October 1, 1996
Last sequence update: January 23, 2007
Last modified: July 9, 2014
This is version 137 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 22

Human chromosome 22: entries, gene names and cross-references to MIM