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Entry version 221 (13 Feb 2019)
Sequence version 2 (01 Jan 1990)
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Protein

Alpha-crystallin B chain

Gene

CRYAB

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

May contribute to the transparency and refractive index of the lens. Has chaperone-like activity, preventing aggregation of various proteins under a wide range of stress conditions.

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection describes interesting single amino acid sites on the sequence that are not defined in any other subsection. This subsection can be displayed in different sections (‘Function’, ‘PTM / Processing’, ‘Pathology and Biotech’) according to its content.<p><a href='/help/site' target='_top'>More...</a></p>Sitei48Susceptible to oxidation1
Sitei60Susceptible to oxidation1
Sitei68Susceptible to oxidation1
<p>This subsection of the ‘Function’ section indicates at which position the protein binds a given metal ion. The nature of the metal is indicated in the ‘Description’ field.<p><a href='/help/metal' target='_top'>More...</a></p>Metal bindingi83Zinc 1By similarity1
Metal bindingi104Zinc 2Curated1
Metal bindingi106Zinc 2By similarity1
Metal bindingi111Zinc 1Curated1
Metal bindingi119Zinc 1Curated1

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionChaperone, Eye lens protein
LigandMetal-binding, Zinc

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

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Reactomei
R-HSA-3371571 HSF1-dependent transactivation

SIGNOR Signaling Network Open Resource

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SIGNORi
P02511

Protein family/group databases

MoonDB Database of extreme multifunctional and moonlighting proteins

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MoonDBi
P02511 Curated

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Alpha-crystallin B chain
Alternative name(s):
Alpha(B)-crystallin
Heat shock protein beta-5
Short name:
HspB5
Renal carcinoma antigen NY-REN-27
Rosenthal fiber component
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:CRYAB
Synonyms:CRYA2, HSPB5
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 11

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...
EuPathDBi
HostDB:ENSG00000109846.7

Human Gene Nomenclature Database

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HGNCi
HGNC:2389 CRYAB

Online Mendelian Inheritance in Man (OMIM)

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MIMi
123590 gene

neXtProt; the human protein knowledge platform

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neXtProti
NX_P02511

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>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 & Seán O’Donoghue; Source: COMPARTMENTS

Keywords - Cellular componenti

Cytoplasm, Nucleus

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Myopathy, myofibrillar, 2 (MFM2)4 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of myofibrillar myopathy, a group of chronic neuromuscular disorders characterized at ultrastructural level by disintegration of the sarcomeric Z disk and myofibrils, and replacement of the normal myofibrillar markings by small dense granules, or larger hyaline masses, or amorphous material. MFM2 is characterized by weakness of the proximal and distal limb muscles, weakness of the neck, velopharynx and trunk muscles, hypertrophic cardiomyopathy, and cataract in a subset of patients.
See also OMIM:608810
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_069528109D → H in MFM2. 1 PublicationCorresponds to variant dbSNP:rs387907339EnsemblClinVar.1
Natural variantiVAR_007899120R → G in MFM2; decreased interactions with wild-type CRYAA and CRYAB but increased interactions with wild-type CRYBB2 and CRYGC; cytoplasmic aggregation. 3 PublicationsCorresponds to variant dbSNP:rs104894201EnsemblClinVar.1
Cataract 16, multiple types (CTRCT16)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. CTRCT16 includes posterior polar cataract, among others. Posterior polar cataract is a subcapsular opacity, usually disk-shaped, located at the back of the lens.
See also OMIM:613763
CRYAB mutations may be involved in restrictive cardiomyopathy (RCM), a rare non-ischemic myocardial disease. RCM is characterized by restrictive ventricular-filling physiology in the presence of normal or reduced diastolic and/or systolic volumes (of 1 or both ventricles), biatrial enlargement, and normal ventricular wall thickness.1 Publication
Myopathy, myofibrillar, fatal infantile hypertonic, alpha-B crystallin-related (MFMFIH-CRYAB)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of myofibrillar myopathy, a group of chronic neuromuscular disorders characterized at ultrastructural level by disintegration of the sarcomeric Z disk and myofibrils, and replacement of the normal myofibrillar markings by small dense granules, or larger hyaline masses, or amorphous material. MFMFIH-CRYAB has onset in the first weeks of life after a normal neonatal period. Affected infants show rapidly progressive muscular rigidity of the trunk and limbs associated with increasing respiratory difficulty resulting in death before age 3 years.
See also OMIM:613869
Cardiomyopathy, dilated 1II (CMD1II)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death.
See also OMIM:615184
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_070035154G → S in CMD1II. 1 PublicationCorresponds to variant dbSNP:rs150516929EnsemblClinVar.1
Natural variantiVAR_070036157R → H in CMD1II. 1 PublicationCorresponds to variant dbSNP:rs141638421EnsemblClinVar.1

Keywords - Diseasei

Cardiomyopathy, Cataract, Disease mutation, Myofibrillar myopathy

Organism-specific databases

DisGeNET

More...
DisGeNETi
1410

GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

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GeneReviewsi
CRYAB

MalaCards human disease database

More...
MalaCardsi
CRYAB
MIMi608810 phenotype
613763 phenotype
613869 phenotype
615184 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000109846

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...
Orphaneti
399058 Alpha-B crystallin-related late-onset myopathy
441452 Early-onset lamellar cataract
98991 Early-onset nuclear cataract
98993 Early-onset posterior polar cataract
154 Familial isolated dilated cardiomyopathy
280553 Fatal infantile hypertonic myofibrillar myopathy

The Pharmacogenetics and Pharmacogenomics Knowledge Base

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PharmGKBi
PA26907

Chemistry databases

ChEMBL database of bioactive drug-like small molecules

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ChEMBLi
CHEMBL3621022

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

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BioMutai
CRYAB

Domain mapping of disease mutations (DMDM)

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DMDMi
117385

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00001259071 – 175Alpha-crystallin B chainAdd BLAST175

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei1N-acetylmethionine2 Publications1
Modified residuei19Phosphoserine1 Publication1
Modified residuei45Phosphoserine2 Publications1
Modified residuei59PhosphoserineCombined sources2 Publications1
Modified residuei92N6-acetyllysine; partial2 Publications1
Modified residuei166N6-acetyllysine1 Publication1
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section specifies the position and type of each covalently attached glycan group (mono-, di-, or polysaccharide).<p><a href='/help/carbohyd' target='_top'>More...</a></p>Glycosylationi170O-linked (GlcNAc) threonineBy similarity1

Keywords - PTMi

Acetylation, Glycoprotein, Oxidation, Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

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EPDi
P02511

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
P02511

PaxDb, a database of protein abundance averages across all three domains of life

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PaxDbi
P02511

PeptideAtlas

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PeptideAtlasi
P02511

PRoteomics IDEntifications database

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PRIDEi
P02511

ProteomicsDB human proteome resource

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ProteomicsDBi
51527

2D gel databases

REPRODUCTION-2DPAGE

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REPRODUCTION-2DPAGEi
IPI00021369

Two-dimensional polyacrylamide gel electrophoresis database from the Geneva University Hospital

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SWISS-2DPAGEi
P02511

University College Dublin 2-DE Proteome Database

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UCD-2DPAGEi
P02511

PTM databases

GlyConnect protein glycosylation platform

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GlyConnecti
33

iPTMnet integrated resource for PTMs in systems biology context

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iPTMneti
P02511

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

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PhosphoSitePlusi
P02511

UniCarbKB; an annotated and curated database of glycan structures

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UniCarbKBi
P02511

Miscellaneous databases

CutDB - Proteolytic event database

More...
PMAP-CutDBi
P02511

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the ‘Expression’ section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified ‘at protein level’. <br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Lens as well as other tissues (PubMed:838078, PubMed:2387586). Expressed in myocardial tissue (PubMed:28493373).3 Publications

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000109846 Expressed in 232 organ(s), highest expression level in heart left ventricle

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
P02511 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
P02511 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
CAB002053
CAB040560
HPA057100

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Heteropolymer composed of three CRYAA and one CRYAB subunits (PubMed:20836128). Aggregates with homologous proteins, including the small heat shock protein HSPB1, to form large heteromeric complexes (PubMed:10751411). Inter-subunit bridging via zinc ions enhances stability, which is crucial as there is no protein turn over in the lens (PubMed:22890888). Interacts with HSPBAP1 and TTN/titin (PubMed:14676215). Interacts with TMEM109 (PubMed:23542032). Interacts with DES; binds rapidly during early stages of DES filament assembly and a reduced binding seen in the later stages (PubMed:28470624).6 Publications

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction_section%27">Interaction</a> section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="http://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated on a monthly basis. Each binary interaction is displayed on a separate line.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
107800, 115 interactors

CORUM comprehensive resource of mammalian protein complexes

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CORUMi
P02511

Database of interacting proteins

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DIPi
DIP-35017N

Protein interaction database and analysis system

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IntActi
P02511, 27 interactors

Molecular INTeraction database

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MINTi
P02511

STRING: functional protein association networks

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STRINGi
9606.ENSP00000227251

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

Secondary structure

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

3D structure databases

Select the link destinations:

Protein Data Bank Europe

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PDBei

Protein Data Bank RCSB

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RCSB PDBi

Protein Data Bank Japan

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PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2KLRNMR-A/B1-175[»]
2N0KNMR-A/B64-152[»]
2WJ7X-ray2.63A/B/C/D/E67-157[»]
2Y1YX-ray2.00A71-157[»]
2Y1ZX-ray2.50A/B67-157[»]
2Y22X-ray3.70A/B/C/D/E/F67-157[»]
2YGDelectron microscopy9.40A/B/C/D/E/F/G/H/I/J/K/L/M/N/O/P/Q/R/S/T/U/V/W/X1-175[»]
3J07Other-A/B/C/D/E/F/G/H/I/J/K/L/M/N/O/P/Q/R/S/T/U/V/W/X1-175[»]
3L1GX-ray3.32A68-162[»]
3SGMX-ray1.70A/B/C/D90-100[»]
3SGNX-ray2.81A/B90-100[»]
3SGOX-ray2.56A90-100[»]
3SGPX-ray1.40A/B/C/D90-100[»]
3SGRX-ray2.17A/B/C/D/E/F90-100[»]
3SGSX-ray1.70A95-100[»]
4M5SX-ray1.37A68-153[»]
B156-164[»]
4M5TX-ray2.00A/C/E/G68-153[»]
B/D/F/H156-164[»]
5VVVX-ray2.80B/D38-50[»]
6BP9NMR-A/B64-152[»]

Database of protein disorder

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DisProti
DP00445

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

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ProteinModelPortali
P02511

SWISS-MODEL Repository - a database of annotated 3D protein structure models

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SMRi
P02511

Database of comparative protein structure models

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ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
Search...

Miscellaneous databases

Relative evolutionary importance of amino acids within a protein sequence

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EvolutionaryTracei
P02511

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family_and_domains_section">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini56 – 164sHSPPROSITE-ProRule annotationAdd BLAST109

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the small heat shock protein (HSP20) family.PROSITE-ProRule annotation

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

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eggNOGi
KOG3591 Eukaryota
ENOG410YERS LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00940000157434

The HOVERGEN Database of Homologous Vertebrate Genes

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HOVERGENi
HBG054766

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
P02511

KEGG Orthology (KO)

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KOi
K09542

Identification of Orthologs from Complete Genome Data

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OMAi
ITAPMKK

Database of Orthologous Groups

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OrthoDBi
1187096at2759

Database for complete collections of gene phylogenies

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PhylomeDBi
P02511

TreeFam database of animal gene trees

More...
TreeFami
TF105049

Family and domain databases

Conserved Domains Database

More...
CDDi
cd06498 ACD_alphaB-crystallin_HspB5, 1 hit

Gene3D Structural and Functional Annotation of Protein Families

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Gene3Di
2.60.40.790, 1 hit

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR002068 A-crystallin/Hsp20_dom
IPR037882 ACD_alphaB-crystallin
IPR001436 Alpha-crystallin/HSP
IPR003090 Alpha-crystallin_N
IPR031107 HSP20
IPR008978 HSP20-like_chaperone

The PANTHER Classification System

More...
PANTHERi
PTHR11527 PTHR11527, 1 hit

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF00525 Crystallin, 1 hit
PF00011 HSP20, 1 hit

PIRSF; a whole-protein classification database

More...
PIRSFi
PIRSF036514 Sm_HSP_B1, 1 hit

Protein Motif fingerprint database; a protein domain database

More...
PRINTSi
PR00299 ACRYSTALLIN

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF49764 SSF49764, 1 hit

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS01031 SHSP, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>.<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequence (1+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry has 1 described isoform and 8 potential isoforms that are computationally mapped.Show allAlign All

P02511-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MDIAIHHPWI RRPFFPFHSP SRLFDQFFGE HLLESDLFPT STSLSPFYLR
60 70 80 90 100
PPSFLRAPSW FDTGLSEMRL EKDRFSVNLD VKHFSPEELK VKVLGDVIEV
110 120 130 140 150
HGKHEERQDE HGFISREFHR KYRIPADVDP LTITSSLSSD GVLTVNGPRK
160 170
QVSGPERTIP ITREEKPAVT AAPKK
Length:175
Mass (Da):20,159
Last modified:January 1, 1990 - v2
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:iAE08BED46B7849CB
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 8 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
E9PR44E9PR44_HUMAN
Alpha-crystallin B chain
CRYAB
174Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
E9PJL7E9PJL7_HUMAN
Alpha-crystallin B chain
CRYAB
129Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
E9PRA8E9PRA8_HUMAN
Alpha-crystallin B chain
CRYAB
155Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A024R3B9A0A024R3B9_HUMAN
Alpha-crystallin B chain
CRYAB hCG_1730741
108Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
H0YCW8H0YCW8_HUMAN
Alpha-crystallin B chain
CRYAB
106Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
E9PNH7E9PNH7_HUMAN
Alpha-crystallin B chain
CRYAB
106Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
E9PS12E9PS12_HUMAN
Alpha-crystallin B chain
CRYAB
77Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
E9PRS4E9PRS4_HUMAN
Alpha-crystallin B chain
CRYAB
68Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti165E → K in AAC19161 (Ref. 4) Curated1
Sequence conflicti175K → KKMPFLELHFLKQESFPTSE in AAC19161 (Ref. 4) Curated1

<p>This subsection of the ‘Sequence’ section reports information derived from mass spectrometry experiments done on the entire protein or on biologically active derived peptide(s).<p><a href='/help/mass_spectrometry' target='_top'>More...</a></p>Mass spectrometryi

Molecular mass is 20201 Da from positions 1 - 175. Determined by ESI. 2 Publications
Molecular mass is 20281 Da from positions 1 - 175. Determined by ESI. With 1 phosphate group.2 Publications
Molecular mass is 20360 Da from positions 1 - 175. Determined by ESI. With 2 phosphate groups.1 Publication
Molecular mass is 20199 Da from positions 1 - 175. Determined by ESI. 2 Publications
Molecular mass is 20278 Da from positions 1 - 175. Determined by ESI. With 1 phosphate group.2 Publications

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_01460741S → Y. Corresponds to variant dbSNP:rs2234703Ensembl.1
Natural variantiVAR_01460851P → L. Corresponds to variant dbSNP:rs2234704EnsemblClinVar.1
Natural variantiVAR_079841109D → G Probable disease-associated mutation found in patients with restrictive cardiomyopathy; reduces CRYAB and DES localization at the Z-bands and the intercalated disk in the myocardium; cytoplasmic aggregations of CRYAB and DES. 1 PublicationCorresponds to variant dbSNP:rs1114167341Ensembl.1
Natural variantiVAR_069528109D → H in MFM2. 1 PublicationCorresponds to variant dbSNP:rs387907339EnsemblClinVar.1
Natural variantiVAR_007899120R → G in MFM2; decreased interactions with wild-type CRYAA and CRYAB but increased interactions with wild-type CRYBB2 and CRYGC; cytoplasmic aggregation. 3 PublicationsCorresponds to variant dbSNP:rs104894201EnsemblClinVar.1
Natural variantiVAR_070035154G → S in CMD1II. 1 PublicationCorresponds to variant dbSNP:rs150516929EnsemblClinVar.1
Natural variantiVAR_070036157R → H in CMD1II. 1 PublicationCorresponds to variant dbSNP:rs141638421EnsemblClinVar.1

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
Links Updated
M28638 Genomic DNA Translation: AAA52104.1
S45630 mRNA Translation: AAB23453.1
AF007162 mRNA Translation: AAC19161.1
AK314029 mRNA Translation: BAG36739.1
BT006770 mRNA Translation: AAP35416.1
EF444955 Genomic DNA Translation: ACA05949.1
CH471065 Genomic DNA Translation: EAW67162.1
BC007008 mRNA Translation: AAH07008.1
M24906 mRNA Translation: AAA60267.1

The Consensus CDS (CCDS) project

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CCDSi
CCDS8351.1

Protein sequence database of the Protein Information Resource

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PIRi
A35332 CYHUAB

NCBI Reference Sequences

More...
RefSeqi
NP_001276736.1, NM_001289807.1
NP_001276737.1, NM_001289808.1
NP_001876.1, NM_001885.2
XP_011540910.1, XM_011542608.1

UniGene gene-oriented nucleotide sequence clusters

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UniGenei
Hs.53454
Hs.703770

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000227251; ENSP00000227251; ENSG00000109846
ENST00000526180; ENSP00000436051; ENSG00000109846
ENST00000527950; ENSP00000437149; ENSG00000109846
ENST00000531198; ENSP00000434247; ENSG00000109846
ENST00000533475; ENSP00000433560; ENSG00000109846
ENST00000616970; ENSP00000483554; ENSG00000109846

Database of genes from NCBI RefSeq genomes

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GeneIDi
1410

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:1410

Keywords - Coding sequence diversityi

Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

<p>This subsection of the <a href="http://www.uniprot.org/manual/cross_references_section">Cross-references</a> section provides links to various web resources that are relevant for a specific protein.<p><a href='/help/web_resource' target='_top'>More...</a></p>Web resourcesi

Atlas of Genetics and Cytogenetics in Oncology and Haematology

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
M28638 Genomic DNA Translation: AAA52104.1
S45630 mRNA Translation: AAB23453.1
AF007162 mRNA Translation: AAC19161.1
AK314029 mRNA Translation: BAG36739.1
BT006770 mRNA Translation: AAP35416.1
EF444955 Genomic DNA Translation: ACA05949.1
CH471065 Genomic DNA Translation: EAW67162.1
BC007008 mRNA Translation: AAH07008.1
M24906 mRNA Translation: AAA60267.1
CCDSiCCDS8351.1
PIRiA35332 CYHUAB
RefSeqiNP_001276736.1, NM_001289807.1
NP_001276737.1, NM_001289808.1
NP_001876.1, NM_001885.2
XP_011540910.1, XM_011542608.1
UniGeneiHs.53454
Hs.703770

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2KLRNMR-A/B1-175[»]
2N0KNMR-A/B64-152[»]
2WJ7X-ray2.63A/B/C/D/E67-157[»]
2Y1YX-ray2.00A71-157[»]
2Y1ZX-ray2.50A/B67-157[»]
2Y22X-ray3.70A/B/C/D/E/F67-157[»]
2YGDelectron microscopy9.40A/B/C/D/E/F/G/H/I/J/K/L/M/N/O/P/Q/R/S/T/U/V/W/X1-175[»]
3J07Other-A/B/C/D/E/F/G/H/I/J/K/L/M/N/O/P/Q/R/S/T/U/V/W/X1-175[»]
3L1GX-ray3.32A68-162[»]
3SGMX-ray1.70A/B/C/D90-100[»]
3SGNX-ray2.81A/B90-100[»]
3SGOX-ray2.56A90-100[»]
3SGPX-ray1.40A/B/C/D90-100[»]
3SGRX-ray2.17A/B/C/D/E/F90-100[»]
3SGSX-ray1.70A95-100[»]
4M5SX-ray1.37A68-153[»]
B156-164[»]
4M5TX-ray2.00A/C/E/G68-153[»]
B/D/F/H156-164[»]
5VVVX-ray2.80B/D38-50[»]
6BP9NMR-A/B64-152[»]
DisProtiDP00445
ProteinModelPortaliP02511
SMRiP02511
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi107800, 115 interactors
CORUMiP02511
DIPiDIP-35017N
IntActiP02511, 27 interactors
MINTiP02511
STRINGi9606.ENSP00000227251

Chemistry databases

ChEMBLiCHEMBL3621022

Protein family/group databases

MoonDBiP02511 Curated

PTM databases

GlyConnecti33
iPTMnetiP02511
PhosphoSitePlusiP02511
UniCarbKBiP02511

Polymorphism and mutation databases

BioMutaiCRYAB
DMDMi117385

2D gel databases

REPRODUCTION-2DPAGEiIPI00021369
SWISS-2DPAGEiP02511
UCD-2DPAGEiP02511

Proteomic databases

EPDiP02511
jPOSTiP02511
PaxDbiP02511
PeptideAtlasiP02511
PRIDEiP02511
ProteomicsDBi51527

Protocols and materials databases

The DNASU plasmid repository

More...
DNASUi
1410
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000227251; ENSP00000227251; ENSG00000109846
ENST00000526180; ENSP00000436051; ENSG00000109846
ENST00000527950; ENSP00000437149; ENSG00000109846
ENST00000531198; ENSP00000434247; ENSG00000109846
ENST00000533475; ENSP00000433560; ENSG00000109846
ENST00000616970; ENSP00000483554; ENSG00000109846
GeneIDi1410
KEGGihsa:1410

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
1410
DisGeNETi1410
EuPathDBiHostDB:ENSG00000109846.7

GeneCards: human genes, protein and diseases

More...
GeneCardsi
CRYAB
GeneReviewsiCRYAB
HGNCiHGNC:2389 CRYAB
HPAiCAB002053
CAB040560
HPA057100
MalaCardsiCRYAB
MIMi123590 gene
608810 phenotype
613763 phenotype
613869 phenotype
615184 phenotype
neXtProtiNX_P02511
OpenTargetsiENSG00000109846
Orphaneti399058 Alpha-B crystallin-related late-onset myopathy
441452 Early-onset lamellar cataract
98991 Early-onset nuclear cataract
98993 Early-onset posterior polar cataract
154 Familial isolated dilated cardiomyopathy
280553 Fatal infantile hypertonic myofibrillar myopathy
PharmGKBiPA26907

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG3591 Eukaryota
ENOG410YERS LUCA
GeneTreeiENSGT00940000157434
HOVERGENiHBG054766
InParanoidiP02511
KOiK09542
OMAiITAPMKK
OrthoDBi1187096at2759
PhylomeDBiP02511
TreeFamiTF105049

Enzyme and pathway databases

ReactomeiR-HSA-3371571 HSF1-dependent transactivation
SIGNORiP02511

Miscellaneous databases

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...
ChiTaRSi
CRYAB human
EvolutionaryTraceiP02511

The Gene Wiki collection of pages on human genes and proteins

More...
GeneWikii
CRYAB

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...
GenomeRNAii
1410
PMAP-CutDBiP02511

Protein Ontology

More...
PROi
PR:P02511

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000109846 Expressed in 232 organ(s), highest expression level in heart left ventricle
ExpressionAtlasiP02511 baseline and differential
GenevisibleiP02511 HS

Family and domain databases

CDDicd06498 ACD_alphaB-crystallin_HspB5, 1 hit
Gene3Di2.60.40.790, 1 hit
InterProiView protein in InterPro
IPR002068 A-crystallin/Hsp20_dom
IPR037882 ACD_alphaB-crystallin
IPR001436 Alpha-crystallin/HSP
IPR003090 Alpha-crystallin_N
IPR031107 HSP20
IPR008978 HSP20-like_chaperone
PANTHERiPTHR11527 PTHR11527, 1 hit
PfamiView protein in Pfam
PF00525 Crystallin, 1 hit
PF00011 HSP20, 1 hit
PIRSFiPIRSF036514 Sm_HSP_B1, 1 hit
PRINTSiPR00299 ACRYSTALLIN
SUPFAMiSSF49764 SSF49764, 1 hit
PROSITEiView protein in PROSITE
PS01031 SHSP, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...
ProtoNeti
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiCRYAB_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: P02511
Secondary accession number(s): B0YIX0
, O43416, Q9UC37, Q9UC38, Q9UC39, Q9UC40, Q9UC41
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: July 21, 1986
Last sequence update: January 1, 1990
Last modified: February 13, 2019
This is version 221 of the entry and version 2 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>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.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Direct protein sequencing, Reference proteome

Documents

  1. Human chromosome 11
    Human chromosome 11: entries, gene names and cross-references to MIM
  2. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  3. SIMILARITY comments
    Index of protein domains and families
  4. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  5. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  6. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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