Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Protein

Heat shock protein beta-8

Gene

HSPB8

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

Functioni

Displays temperature-dependent chaperone activity.

Caution

Was reported to have a protein kinase activity and to act as a Mn2+-dependent serine-threonine-specific protein kinase.1 Publication

GO - Molecular functioni

  • identical protein binding Source: IntAct

GO - Biological processi

Keywordsi

Molecular functionChaperone
Biological processStress response

Enzyme and pathway databases

ReactomeiR-HSA-3371571 HSF1-dependent transactivation
SIGNORiQ9UJY1

Names & Taxonomyi

Protein namesi
Recommended name:
Heat shock protein beta-8
Short name:
HspB8
Alternative name(s):
Alpha-crystallin C chain
E2-induced gene 1 protein
Protein kinase H11
Small stress protein-like protein HSP22
Gene namesi
Name:HSPB8
Synonyms:CRYAC, E2IG1, HSP22
ORF Names:PP1629
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 12

Organism-specific databases

EuPathDBiHostDB:ENSG00000152137.6
HGNCiHGNC:30171 HSPB8
MIMi608014 gene
neXtProtiNX_Q9UJY1

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

Keywords - Cellular componenti

Cytoplasm, Nucleus

Pathology & Biotechi

Involvement in diseasei

Neuronopathy, distal hereditary motor, 2A (HMN2A)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA neuromuscular disorder. Distal hereditary motor neuronopathies constitute a heterogeneous group of neuromuscular disorders caused by selective degeneration of motor neurons in the anterior horn of the spinal cord, without sensory deficit in the posterior horn. The overall clinical picture consists of a classical distal muscular atrophy syndrome in the legs without clinical sensory loss. The disease starts with weakness and wasting of distal muscles of the anterior tibial and peroneal compartments of the legs. Later on, weakness and atrophy may expand to the proximal muscles of the lower limbs and/or to the distal upper limbs.
See also OMIM:158590
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07813390P → L in HMN2A; no effect on cytoskeleton architecture; no effect on cytoplasmic location; no effect on interaction with BAG3. 1 Publication1
Natural variantiVAR_078134138N → T in HMN2A; no effect on cytoskeleton architecture; no effect on cytoplasmic location; no effect on interaction with BAG3. 1 Publication1
Natural variantiVAR_018504141K → E in HMN2A; strengthen interaction with HSPB1. 1 PublicationCorresponds to variant dbSNP:rs104894351EnsemblClinVar.1
Natural variantiVAR_078135141K → M in HMN2A; no effect on cytoskeleton architecture; no effect on cytoplasmic location; increased interaction with BAG3. 1 Publication1
Natural variantiVAR_018505141K → N in HMN2A; strengthen interaction with HSPB1; no effect on cytoskeleton architecture; no effect on cytoplasmic location; increased interaction with BAG3. 3 PublicationsCorresponds to variant dbSNP:rs104894345EnsemblClinVar.1
Charcot-Marie-Tooth disease 2L (CMT2L)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn axonal form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies (CMT2). Neuropathies of the CMT2 group are characterized by signs of axonal degeneration in the absence of obvious myelin alterations, normal or slightly reduced nerve conduction velocities, and progressive distal muscle weakness and atrophy.
See also OMIM:608673

Keywords - Diseasei

Charcot-Marie-Tooth disease, Disease mutation, Neurodegeneration, Neuropathy

Organism-specific databases

DisGeNETi26353
GeneReviewsiHSPB8
MalaCardsiHSPB8
MIMi158590 phenotype
608673 phenotype
OpenTargetsiENSG00000152137
Orphaneti99945 Autosomal dominant Charcot-Marie-Tooth disease type 2L
476093 Autosomal dominant distal axonal motor neuropathy-myofibrillar myopathy syndrome
139525 Distal hereditary motor neuropathy type 2
PharmGKBiPA134900173

Polymorphism and mutation databases

BioMutaiHSPB8
DMDMi13431576

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00001259451 – 196Heat shock protein beta-8Add BLAST196

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei24PhosphoserineCombined sources1
Modified residuei57PhosphoserineBy similarity1
Modified residuei63Phosphothreonine; by PKC; in vitro1 Publication1
Modified residuei71Asymmetric dimethylarginineBy similarity1
Modified residuei78Asymmetric dimethylarginineBy similarity1

Keywords - PTMi

Methylation, Phosphoprotein

Proteomic databases

EPDiQ9UJY1
MaxQBiQ9UJY1
PaxDbiQ9UJY1
PeptideAtlasiQ9UJY1
PRIDEiQ9UJY1
ProteomicsDBi84690

PTM databases

iPTMnetiQ9UJY1
PhosphoSitePlusiQ9UJY1

Expressioni

Tissue specificityi

Predominantly expressed in skeletal muscle and heart.1 Publication

Inductioni

By 17-beta-estradiol.

Gene expression databases

BgeeiENSG00000152137 Expressed in 222 organ(s), highest expression level in quadriceps femoris
CleanExiHS_HSPB8
ExpressionAtlasiQ9UJY1 baseline and differential
GenevisibleiQ9UJY1 HS

Organism-specific databases

HPAiHPA015876

Interactioni

Subunit structurei

Monomer. Interacts with HSPB1. Interacts with DNAJB6. Interacts with BAG3 (PubMed:28144995).3 Publications

Binary interactionsi

GO - Molecular functioni

Protein-protein interaction databases

BioGridi117689, 39 interactors
CORUMiQ9UJY1
ELMiQ9UJY1
IntActiQ9UJY1, 29 interactors
MINTiQ9UJY1
STRINGi9606.ENSP00000281938

Structurei

3D structure databases

ProteinModelPortaliQ9UJY1
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini74 – 185sHSPPROSITE-ProRule annotationAdd BLAST112

Sequence similaritiesi

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

Phylogenomic databases

eggNOGiKOG3591 Eukaryota
ENOG410YERS LUCA
GeneTreeiENSGT00760000119238
HOGENOMiHOG000233955
HOVERGENiHBG054766
InParanoidiQ9UJY1
KOiK08879
OMAiPWPDWAL
OrthoDBiEOG091G0USC
PhylomeDBiQ9UJY1
TreeFamiTF105049

Family and domain databases

Gene3Di2.60.40.790, 1 hit
InterProiView protein in InterPro
IPR002068 A-crystallin/Hsp20_dom
IPR001436 Alpha-crystallin/HSP
IPR031107 HSP20
IPR008978 HSP20-like_chaperone
PANTHERiPTHR11527 PTHR11527, 1 hit
PfamiView protein in Pfam
PF00011 HSP20, 1 hit
PRINTSiPR00299 ACRYSTALLIN
SUPFAMiSSF49764 SSF49764, 1 hit
PROSITEiView protein in PROSITE
PS01031 SHSP, 1 hit

Sequence (1+)i

Sequence statusi: Complete.

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

Q9UJY1-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MADGQMPFSC HYPSRLRRDP FRDSPLSSRL LDDGFGMDPF PDDLTASWPD
60 70 80 90 100
WALPRLSSAW PGTLRSGMVP RGPTATARFG VPAEGRTPPP FPGEPWKVCV
110 120 130 140 150
NVHSFKPEEL MVKTKDGYVE VSGKHEEKQQ EGGIVSKNFT KKIQLPAEVD
160 170 180 190
PVTVFASLSP EGLLIIEAPQ VPPYSTFGES SFNNELPQDS QEVTCT
Length:196
Mass (Da):21,604
Last modified:May 1, 2000 - v1
Checksum:iB76058CED52292CB
GO

Computationally mapped potential isoform sequencesi

There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
H0YG30H0YG30_HUMAN
Heat shock protein beta-8
HSPB8
152Annotation score:

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti51W → C in AAD55359 (PubMed:10833516).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_04224467G → S in a glioblastoma multiforme sample; somatic mutation. 1 Publication1
Natural variantiVAR_04224578R → M1 PublicationCorresponds to variant dbSNP:rs55826713EnsemblClinVar.1
Natural variantiVAR_07813390P → L in HMN2A; no effect on cytoskeleton architecture; no effect on cytoplasmic location; no effect on interaction with BAG3. 1 Publication1
Natural variantiVAR_078134138N → T in HMN2A; no effect on cytoskeleton architecture; no effect on cytoplasmic location; no effect on interaction with BAG3. 1 Publication1
Natural variantiVAR_018504141K → E in HMN2A; strengthen interaction with HSPB1. 1 PublicationCorresponds to variant dbSNP:rs104894351EnsemblClinVar.1
Natural variantiVAR_078135141K → M in HMN2A; no effect on cytoskeleton architecture; no effect on cytoplasmic location; increased interaction with BAG3. 1 Publication1
Natural variantiVAR_018505141K → N in HMN2A; strengthen interaction with HSPB1; no effect on cytoskeleton architecture; no effect on cytoplasmic location; increased interaction with BAG3. 3 PublicationsCorresponds to variant dbSNP:rs104894345EnsemblClinVar.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF191017 mRNA Translation: AAF09481.1
AF250138 mRNA Translation: AAF65562.1
AF133207 mRNA Translation: AAD55359.1
AL136936 mRNA Translation: CAB66870.1
AF217987 mRNA Translation: AAG17230.1
BT006876 mRNA Translation: AAP35522.1
CR533453 mRNA Translation: CAG38484.1
AK312501 mRNA Translation: BAG35403.1
CH471054 Genomic DNA Translation: EAW98144.1
BC002673 mRNA Translation: AAH02673.1
CCDSiCCDS9189.1
RefSeqiNP_055180.1, NM_014365.2
UniGeneiHs.400095

Genome annotation databases

EnsembliENST00000281938; ENSP00000281938; ENSG00000152137
GeneIDi26353
KEGGihsa:26353
UCSCiuc001txb.4 human

Keywords - Coding sequence diversityi

Polymorphism

Similar proteinsi

Cross-referencesi

Web resourcesi

Inherited peripheral neuropathies mutation db

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF191017 mRNA Translation: AAF09481.1
AF250138 mRNA Translation: AAF65562.1
AF133207 mRNA Translation: AAD55359.1
AL136936 mRNA Translation: CAB66870.1
AF217987 mRNA Translation: AAG17230.1
BT006876 mRNA Translation: AAP35522.1
CR533453 mRNA Translation: CAG38484.1
AK312501 mRNA Translation: BAG35403.1
CH471054 Genomic DNA Translation: EAW98144.1
BC002673 mRNA Translation: AAH02673.1
CCDSiCCDS9189.1
RefSeqiNP_055180.1, NM_014365.2
UniGeneiHs.400095

3D structure databases

ProteinModelPortaliQ9UJY1
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi117689, 39 interactors
CORUMiQ9UJY1
ELMiQ9UJY1
IntActiQ9UJY1, 29 interactors
MINTiQ9UJY1
STRINGi9606.ENSP00000281938

PTM databases

iPTMnetiQ9UJY1
PhosphoSitePlusiQ9UJY1

Polymorphism and mutation databases

BioMutaiHSPB8
DMDMi13431576

Proteomic databases

EPDiQ9UJY1
MaxQBiQ9UJY1
PaxDbiQ9UJY1
PeptideAtlasiQ9UJY1
PRIDEiQ9UJY1
ProteomicsDBi84690

Protocols and materials databases

DNASUi26353
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000281938; ENSP00000281938; ENSG00000152137
GeneIDi26353
KEGGihsa:26353
UCSCiuc001txb.4 human

Organism-specific databases

CTDi26353
DisGeNETi26353
EuPathDBiHostDB:ENSG00000152137.6
GeneCardsiHSPB8
GeneReviewsiHSPB8
HGNCiHGNC:30171 HSPB8
HPAiHPA015876
MalaCardsiHSPB8
MIMi158590 phenotype
608014 gene
608673 phenotype
neXtProtiNX_Q9UJY1
OpenTargetsiENSG00000152137
Orphaneti99945 Autosomal dominant Charcot-Marie-Tooth disease type 2L
476093 Autosomal dominant distal axonal motor neuropathy-myofibrillar myopathy syndrome
139525 Distal hereditary motor neuropathy type 2
PharmGKBiPA134900173
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG3591 Eukaryota
ENOG410YERS LUCA
GeneTreeiENSGT00760000119238
HOGENOMiHOG000233955
HOVERGENiHBG054766
InParanoidiQ9UJY1
KOiK08879
OMAiPWPDWAL
OrthoDBiEOG091G0USC
PhylomeDBiQ9UJY1
TreeFamiTF105049

Enzyme and pathway databases

ReactomeiR-HSA-3371571 HSF1-dependent transactivation
SIGNORiQ9UJY1

Miscellaneous databases

ChiTaRSiHSPB8 human
GeneWikiiHSPB8
GenomeRNAii26353
PROiPR:Q9UJY1
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000152137 Expressed in 222 organ(s), highest expression level in quadriceps femoris
CleanExiHS_HSPB8
ExpressionAtlasiQ9UJY1 baseline and differential
GenevisibleiQ9UJY1 HS

Family and domain databases

Gene3Di2.60.40.790, 1 hit
InterProiView protein in InterPro
IPR002068 A-crystallin/Hsp20_dom
IPR001436 Alpha-crystallin/HSP
IPR031107 HSP20
IPR008978 HSP20-like_chaperone
PANTHERiPTHR11527 PTHR11527, 1 hit
PfamiView protein in Pfam
PF00011 HSP20, 1 hit
PRINTSiPR00299 ACRYSTALLIN
SUPFAMiSSF49764 SSF49764, 1 hit
PROSITEiView protein in PROSITE
PS01031 SHSP, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiHSPB8_HUMAN
AccessioniPrimary (citable) accession number: Q9UJY1
Secondary accession number(s): B2R6A6, Q6FIH3, Q9UKS3
Entry historyiIntegrated into UniProtKB/Swiss-Prot: April 27, 2001
Last sequence update: May 1, 2000
Last modified: November 7, 2018
This is version 175 of the entry and version 1 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

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 12
    Human chromosome 12: entries, gene names and cross-references to MIM
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

We'd like to inform you that we have updated our Privacy Notice to comply with Europe’s new General Data Protection Regulation (GDPR) that applies since 25 May 2018.

Do not show this banner again