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Q9UJY1 (HSPB8_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 136. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Interactions·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended 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 names
Name:HSPB8
Synonyms:CRYAC, E2IG1, HSP22
ORF Names:PP1629
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length196 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

Displays temperature-dependent chaperone activity.

Subunit structure

Monomer. Interacts with HSPB1. Interacts with DNAJB6. Ref.2 Ref.17

Subcellular location

Cytoplasm. Nucleus. Note: Translocates to nuclear foci during heat shock. Ref.15

Tissue specificity

Predominantly expressed in skeletal muscle and heart. Ref.12

Induction

By 17-beta-estradiol.

Involvement in disease

Neuronopathy, distal hereditary motor, 2A (HMN2A) [MIM:158590]: A 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.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.18

Charcot-Marie-Tooth disease 2L (CMT2L) [MIM:608673]: An 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.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.19

Sequence similarities

Belongs to the small heat shock protein (HSP20) family.

Caution

Was reported (Ref.3) to have a protein kinase activity and to act as a Mn2+-dependent serine-threonine-specific protein kinase.

Ontologies

Keywords
   Biological processStress response
   Cellular componentCytoplasm
Nucleus
   Coding sequence diversityPolymorphism
   DiseaseCharcot-Marie-Tooth disease
Disease mutation
Neurodegeneration
Neuropathy
   Molecular functionChaperone
   PTMPhosphoprotein
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processcell death

Inferred from electronic annotation. Source: UniProtKB-KW

response to stress

Inferred from electronic annotation. Source: UniProtKB-KW

   Cellular_componentcytoplasm

Inferred from direct assay Ref.15. Source: UniProtKB

intracellular

Inferred from direct assay. Source: LIFEdb

nucleus

Inferred from direct assay Ref.15. Source: UniProtKB

   Molecular_functionidentical protein binding

Inferred from physical interaction PubMed 14594798. Source: IntAct

protein binding

Inferred from physical interaction Ref.17. Source: UniProtKB

Complete GO annotation...

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 196196Heat shock protein beta-8
PRO_0000125945

Amino acid modifications

Modified residue241Phosphoserine Ref.13 Ref.14
Modified residue631Phosphothreonine; by PKC; in vitro Ref.11

Natural variations

Natural variant671G → S in a glioblastoma multiforme sample; somatic mutation. Ref.20
VAR_042244
Natural variant781R → M. Ref.20
Corresponds to variant rs55826713 [ dbSNP | Ensembl ].
VAR_042245
Natural variant1411K → E in HMN2A; strengthen interaction with HSPB1. Ref.18
VAR_018504
Natural variant1411K → N in HMN2A and CMT2L; strengthen interaction with HSPB1. Ref.18 Ref.19
VAR_018505

Experimental info

Sequence conflict511W → C in AAD55359. Ref.3

Sequences

Sequence LengthMass (Da)Tools
Q9UJY1 [UniParc].

Last modified May 1, 2000. Version 1.
Checksum: B76058CED52292CB

FASTA19621,604
        10         20         30         40         50         60 
MADGQMPFSC HYPSRLRRDP FRDSPLSSRL LDDGFGMDPF PDDLTASWPD WALPRLSSAW 

        70         80         90        100        110        120 
PGTLRSGMVP RGPTATARFG VPAEGRTPPP FPGEPWKVCV NVHSFKPEEL MVKTKDGYVE 

       130        140        150        160        170        180 
VSGKHEEKQQ EGGIVSKNFT KKIQLPAEVD PVTVFASLSP EGLLIIEAPQ VPPYSTFGES 

       190 
SFNNELPQDS QEVTCT 

« Hide

References

« Hide 'large scale' references
[1]"Effects of estrogen on global gene expression: identification of novel targets of estrogen action."
Charpentier A.H., Bednarek A.K., Daniel R.L., Hawkins K.A., Laflin K.J., Gaddis S., MacLeod M.C., Aldaz C.M.
Cancer Res. 60:5977-5983(2000) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA].
[2]"HSP22, a new member of the small heat shock protein superfamily, interacts with mimic of phosphorylated HSP27 (3DHSP27)."
Benndorf R., Sun X., Gilmont R.R., Biederman K.J., Molloy M.P., Goodmurphy C.W., Cheng H., Andrews P.C., Welsh M.J.
J. Biol. Chem. 276:26753-26761(2001) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA], INTERACTION WITH HSPB1.
[3]"A novel human gene similar to the protein kinase (PK) coding domain of the large subunit of herpes simplex virus type 2 ribonucleotide reductase (ICP10) codes for a serine-threonine PK and is expressed in melanoma cells."
Smith C.C., Yu Y.X., Kulka M., Aurelian L.
J. Biol. Chem. 275:25690-25699(2000) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA].
Tissue: Melanoma.
[4]"Towards a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs."
Wiemann S., Weil B., Wellenreuther R., Gassenhuber J., Glassl S., Ansorge W., Boecher M., Bloecker H., Bauersachs S., Blum H., Lauber J., Duesterhoeft A., Beyer A., Koehrer K., Strack N., Mewes H.-W., Ottenwaelder B., Obermaier B. expand/collapse author list , Tampe J., Heubner D., Wambutt R., Korn B., Klein M., Poustka A.
Genome Res. 11:422-435(2001) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
Tissue: Uterus.
[5]"Large-scale cDNA transfection screening for genes related to cancer development and progression."
Wan D., Gong Y., Qin W., Zhang P., Li J., Wei L., Zhou X., Li H., Qiu X., Zhong F., He L., Yu J., Yao G., Jiang H., Qian L., Yu Y., Shu H., Chen X. expand/collapse author list , Xu H., Guo M., Pan Z., Chen Y., Ge C., Yang S., Gu J.
Proc. Natl. Acad. Sci. U.S.A. 101:15724-15729(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
[6]"Cloning of human full-length CDSs in BD Creator(TM) system donor vector."
Kalnine N., Chen X., Rolfs A., Halleck A., Hines L., Eisenstein S., Koundinya M., Raphael J., Moreira D., Kelley T., LaBaer J., Lin Y., Phelan M., Farmer A.
Submitted (MAY-2003) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
[7]"Cloning of human full open reading frames in Gateway(TM) system entry vector (pDONR201)."
Ebert L., Schick M., Neubert P., Schatten R., Henze S., Korn B.
Submitted (JUN-2004) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
[8]"Complete sequencing and characterization of 21,243 full-length human cDNAs."
Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. expand/collapse author list , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
Tissue: Thalamus.
[9]Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. expand/collapse author list , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C.
Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[10]"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].
Tissue: Uterus.
[11]"Phosphopeptide derivatization signatures to identify serine and threonine phosphorylated peptides by mass spectrometry."
Molloy M.P., Andrews P.C.
Anal. Chem. 73:5387-5394(2001) [PubMed] [Europe PMC] [Abstract]
Cited for: PHOSPHORYLATION AT THR-63, IDENTIFICATION BY MASS SPECTROMETRY.
[12]"Characterization of two novel human small heat shock proteins: protein kinase-related HspB8 and testis-specific HspB9."
Kappe G., Verschuure P., Philipsen R.L.A., Staalduinen A.A., Van de Boogaart P., Boelens W.C., de Jong W.W.
Biochim. Biophys. Acta 1520:1-6(2001) [PubMed] [Europe PMC] [Abstract]
Cited for: TISSUE SPECIFICITY.
[13]"Combining protein-based IMAC, peptide-based IMAC, and MudPIT for efficient phosphoproteomic analysis."
Cantin G.T., Yi W., Lu B., Park S.K., Xu T., Lee J.-D., Yates J.R. III
J. Proteome Res. 7:1346-1351(2008) [PubMed] [Europe PMC] [Abstract]
Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-24, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
Tissue: Cervix carcinoma.
[14]"A quantitative atlas of mitotic phosphorylation."
Dephoure N., Zhou C., Villen J., Beausoleil S.A., Bakalarski C.E., Elledge S.J., Gygi S.P.
Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008) [PubMed] [Europe PMC] [Abstract]
Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-24, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
Tissue: Cervix carcinoma.
[15]"HSPB7 is a SC35 speckle resident small heat shock protein."
Vos M.J., Kanon B., Kampinga H.H.
Biochim. Biophys. Acta 1793:1343-1353(2009) [PubMed] [Europe PMC] [Abstract]
Cited for: SUBCELLULAR LOCATION.
[16]"Initial characterization of the human central proteome."
Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J.
BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract]
Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
[17]"Mutations affecting the cytoplasmic functions of the co-chaperone DNAJB6 cause limb-girdle muscular dystrophy."
Sarparanta J., Jonson P.H., Golzio C., Sandell S., Luque H., Screen M., McDonald K., Stajich J.M., Mahjneh I., Vihola A., Raheem O., Penttila S., Lehtinen S., Huovinen S., Palmio J., Tasca G., Ricci E., Hackman P. expand/collapse author list , Hauser M., Katsanis N., Udd B.
Nat. Genet. 44:450-455(2012) [PubMed] [Europe PMC] [Abstract]
Cited for: INTERACTION WITH DNAJB6.
[18]"Hot-spot residue in small heat-shock protein 22 causes distal motor neuropathy."
Irobi J., Van Impe K., Seeman P., Jordanova A., Dierick I., Verpoorten N., Michalik A., De Vriendt E., Jacobs A., Van Gerwen V., Vennekens K., Mazanec R., Tournev I., Hilton-Jones D., Talbot K., Kremensky I., Van Den Bosch L., Robberecht W. expand/collapse author list , Van Vandekerckhove J., Broeckhoven C., Gettemans J., De Jonghe P., Timmerman V.
Nat. Genet. 36:597-601(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS HMN2A GLU-141 AND ASN-141.
[19]"Small heat-shock protein 22 mutated in autosomal dominant Charcot-Marie-Tooth disease type 2L."
Tang B.-S., Zhao G.-H., Luo W., Xia K., Cai F., Pan Q., Zhang R.-X., Zhang F.F., Liu X.-M., Chen B., Zhang C., Shen L., Jiang H., Long Z.G., Dai H.-P.
Hum. Genet. 116:222-224(2005) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT CMT2L ASN-141.
[20]"Patterns of somatic mutation in human cancer genomes."
Greenman C., Stephens P., Smith R., Dalgliesh G.L., Hunter C., Bignell G., Davies H., Teague J., Butler A., Stevens C., Edkins S., O'Meara S., Vastrik I., Schmidt E.E., Avis T., Barthorpe S., Bhamra G., Buck G. expand/collapse author list , Choudhury B., Clements J., Cole J., Dicks E., Forbes S., Gray K., Halliday K., Harrison R., Hills K., Hinton J., Jenkinson A., Jones D., Menzies A., Mironenko T., Perry J., Raine K., Richardson D., Shepherd R., Small A., Tofts C., Varian J., Webb T., West S., Widaa S., Yates A., Cahill D.P., Louis D.N., Goldstraw P., Nicholson A.G., Brasseur F., Looijenga L., Weber B.L., Chiew Y.-E., DeFazio A., Greaves M.F., Green A.R., Campbell P., Birney E., Easton D.F., Chenevix-Trench G., Tan M.-H., Khoo S.K., Teh B.T., Yuen S.T., Leung S.Y., Wooster R., Futreal P.A., Stratton M.R.
Nature 446:153-158(2007) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS [LARGE SCALE ANALYSIS] SER-67 AND MET-78.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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.
CCDSCCDS9189.1.
RefSeqNP_055180.1. NM_014365.2.
UniGeneHs.400095.

3D structure databases

ProteinModelPortalQ9UJY1.
SMRQ9UJY1. Positions 6-170.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid117689. 13 interactions.
IntActQ9UJY1. 10 interactions.
MINTMINT-1456822.
STRING9606.ENSP00000281938.

PTM databases

PhosphoSiteQ9UJY1.

Polymorphism databases

DMDM13431576.

Proteomic databases

MaxQBQ9UJY1.
PaxDbQ9UJY1.
PRIDEQ9UJY1.

Protocols and materials databases

DNASU26353.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000281938; ENSP00000281938; ENSG00000152137.
GeneID26353.
KEGGhsa:26353.
UCSCuc001txb.3. human.

Organism-specific databases

CTD26353.
GeneCardsGC12P119616.
GeneReviewsHSPB8.
HGNCHGNC:30171. HSPB8.
HPAHPA015876.
MIM158590. phenotype.
608014. gene.
608673. phenotype.
neXtProtNX_Q9UJY1.
Orphanet99945. Autosomal dominant Charcot-Marie-Tooth disease type 2L.
139525. Distal hereditary motor neuropathy type 2.
PharmGKBPA134900173.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG271659.
HOGENOMHOG000233955.
HOVERGENHBG054766.
InParanoidQ9UJY1.
KOK08879.
OMAPFGESSF.
OrthoDBEOG7WHHBK.
PhylomeDBQ9UJY1.
TreeFamTF105049.

Gene expression databases

BgeeQ9UJY1.
CleanExHS_HSPB8.
GenevestigatorQ9UJY1.

Family and domain databases

Gene3D2.60.40.790. 1 hit.
InterProIPR002068. a-crystallin/Hsp20_dom.
IPR001436. Alpha-crystallin/HSP.
IPR008978. HSP20-like_chaperone.
[Graphical view]
PfamPF00011. HSP20. 1 hit.
[Graphical view]
PIRSFPIRSF036514. Sm_HSP_B1. 1 hit.
PRINTSPR00299. ACRYSTALLIN.
SUPFAMSSF49764. SSF49764. 1 hit.
PROSITEPS01031. HSP20. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

ChiTaRSHSPB8. human.
GeneWikiHSPB8.
GenomeRNAi26353.
NextBio48689.
PROQ9UJY1.
SOURCESearch...

Entry information

Entry nameHSPB8_HUMAN
AccessionPrimary (citable) accession number: Q9UJY1
Secondary accession number(s): B2R6A6, Q6FIH3, Q9UKS3
Entry history
Integrated into UniProtKB/Swiss-Prot: April 27, 2001
Last sequence update: May 1, 2000
Last modified: July 9, 2014
This is version 136 of the entry and version 1 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

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 12

Human chromosome 12: entries, gene names and cross-references to MIM