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Protein

Heat shock protein beta-8

Gene

HSPB8

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

Displays temperature-dependent chaperone activity.

GO - Molecular functioni

  • identical protein binding Source: IntAct

GO - Biological processi

Complete GO annotation...

Keywords - Molecular functioni

Chaperone

Keywords - Biological processi

Stress response

Enzyme and pathway databases

BioCyciZFISH:ENSG00000152137-MONOMER.
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

HGNCiHGNC:30171. HSPB8.

Subcellular locationi

GO - Cellular componenti

  • cytoplasm Source: UniProtKB
  • Golgi apparatus Source: HPA
  • intracellular Source: LIFEdb
  • nucleoplasm Source: HPA
  • nucleus Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Cytoplasm, Nucleus

Pathology & Biotechi

Involvement in diseasei

Neuronopathy, distal hereditary motor, 2A (HMN2A)1 Publication
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_018504141K → E in HMN2A; strengthen interaction with HSPB1. 1 PublicationCorresponds to variant rs104894351dbSNPEnsembl.1
Natural variantiVAR_018505141K → N in HMN2A and CMT2L; strengthen interaction with HSPB1. 2 PublicationsCorresponds to variant rs104894345dbSNPEnsembl.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. Nerve conduction velocities are normal or slightly reduced.
See also OMIM:608673
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_018505141K → N in HMN2A and CMT2L; strengthen interaction with HSPB1. 2 PublicationsCorresponds to variant rs104894345dbSNPEnsembl.1

Keywords - Diseasei

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

Organism-specific databases

DisGeNETi26353.
MalaCardsiHSPB8.
MIMi158590. phenotype.
608673. phenotype.
OpenTargetsiENSG00000152137.
Orphaneti99945. Autosomal dominant Charcot-Marie-Tooth disease type 2L.
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.

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.
CleanExiHS_HSPB8.
ExpressionAtlasiQ9UJY1. baseline and differential.
GenevisibleiQ9UJY1. HS.

Organism-specific databases

HPAiHPA015876.
HPA058473.

Interactioni

Subunit structurei

Monomer. Interacts with HSPB1. Interacts with DNAJB6.2 Publications

Binary interactionsi

WithEntry#Exp.IntActNotes
itself6EBI-739074,EBI-739074
BAG3O958178EBI-739074,EBI-747185
CRYABP025112EBI-739074,EBI-739060
DUSP12Q9UNI63EBI-739074,EBI-715161
HSPB1P047923EBI-739074,EBI-352682
HSPB2Q160823EBI-739074,EBI-739395
HSPB6O145582EBI-739074,EBI-739095
HSPB7Q9UBY910EBI-739074,EBI-739361
QRICH1Q2TAL85EBI-739074,EBI-2798044

GO - Molecular functioni

  • identical protein binding Source: IntAct

Protein-protein interaction databases

BioGridi117689. 35 interactors.
IntActiQ9UJY1. 21 interactors.
MINTiMINT-1456822.
STRINGi9606.ENSP00000281938.

Structurei

3D structure databases

ProteinModelPortaliQ9UJY1.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

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.
OMAiQTPPYYL.
OrthoDBiEOG091G0USC.
PhylomeDBiQ9UJY1.
TreeFamiTF105049.

Family and domain databases

Gene3Di2.60.40.790. 1 hit.
InterProiIPR002068. A-crystallin/Hsp20_dom.
IPR001436. Alpha-crystallin/HSP.
IPR031107. HSP20.
IPR008978. HSP20-like_chaperone.
[Graphical view]
PANTHERiPTHR11527. PTHR11527. 1 hit.
PfamiPF00011. HSP20. 1 hit.
[Graphical view]
PRINTSiPR00299. ACRYSTALLIN.
SUPFAMiSSF49764. SSF49764. 1 hit.
PROSITEiPS01031. HSP20. 1 hit.
[Graphical view]

Sequencei

Sequence statusi: Complete.

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

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 → M.1 PublicationCorresponds to variant rs55826713dbSNPEnsembl.1
Natural variantiVAR_018504141K → E in HMN2A; strengthen interaction with HSPB1. 1 PublicationCorresponds to variant rs104894351dbSNPEnsembl.1
Natural variantiVAR_018505141K → N in HMN2A and CMT2L; strengthen interaction with HSPB1. 2 PublicationsCorresponds to variant rs104894345dbSNPEnsembl.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

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. 35 interactors.
IntActiQ9UJY1. 21 interactors.
MINTiMINT-1456822.
STRINGi9606.ENSP00000281938.

PTM databases

iPTMnetiQ9UJY1.
PhosphoSitePlusiQ9UJY1.

Polymorphism and mutation databases

BioMutaiHSPB8.
DMDMi13431576.

Proteomic databases

EPDiQ9UJY1.
MaxQBiQ9UJY1.
PaxDbiQ9UJY1.
PeptideAtlasiQ9UJY1.
PRIDEiQ9UJY1.

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.
GeneCardsiHSPB8.
GeneReviewsiHSPB8.
HGNCiHGNC:30171. HSPB8.
HPAiHPA015876.
HPA058473.
MalaCardsiHSPB8.
MIMi158590. phenotype.
608014. gene.
608673. phenotype.
neXtProtiNX_Q9UJY1.
OpenTargetsiENSG00000152137.
Orphaneti99945. Autosomal dominant Charcot-Marie-Tooth disease type 2L.
139525. Distal hereditary motor neuropathy type 2.
PharmGKBiPA134900173.
GenAtlasiSearch...

Phylogenomic databases

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

Enzyme and pathway databases

BioCyciZFISH:ENSG00000152137-MONOMER.
ReactomeiR-HSA-3371571. HSF1-dependent transactivation.
SIGNORiQ9UJY1.

Miscellaneous databases

ChiTaRSiHSPB8. human.
GeneWikiiHSPB8.
GenomeRNAii26353.
PROiQ9UJY1.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000152137.
CleanExiHS_HSPB8.
ExpressionAtlasiQ9UJY1. baseline and differential.
GenevisibleiQ9UJY1. HS.

Family and domain databases

Gene3Di2.60.40.790. 1 hit.
InterProiIPR002068. A-crystallin/Hsp20_dom.
IPR001436. Alpha-crystallin/HSP.
IPR031107. HSP20.
IPR008978. HSP20-like_chaperone.
[Graphical view]
PANTHERiPTHR11527. PTHR11527. 1 hit.
PfamiPF00011. HSP20. 1 hit.
[Graphical view]
PRINTSiPR00299. ACRYSTALLIN.
SUPFAMiSSF49764. SSF49764. 1 hit.
PROSITEiPS01031. HSP20. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiHSPB8_HUMAN
AccessioniPrimary (citable) accession number: Q9UJY1
Secondary accession number(s): B2R6A6, Q6FIH3, Q9UKS3
Entry historyi
Integrated into UniProtKB/Swiss-Prot: April 27, 2001
Last sequence update: May 1, 2000
Last modified: November 30, 2016
This is version 161 of the entry and version 1 of the sequence. [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

Caution

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

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 12
    Human chromosome 12: entries, gene names and cross-references to MIM
  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. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.