Q9UJY1 (HSPB8_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

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 names

Name:	HSPB8
Synonyms:	CRYAC, E2IG1, HSP22
ORF Names:	PP1629

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	196 AA.
Sequence status	Complete.
Protein existence	Evidence 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	Distal hereditary motor neuronopathy 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 regeneration 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 process	Stress response
Cellular component	Cytoplasm Nucleus
Coding sequence diversity	Polymorphism
Disease	Charcot-Marie-Tooth disease Disease mutation Neurodegeneration Neuropathy
Molecular function	Chaperone
PTM	Phosphoprotein
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	cell death Inferred from electronic annotation. Source: UniProtKB-KW response to stress Inferred from electronic annotation. Source: UniProtKB-KW
Cellular_component	cytoplasm Inferred from direct assay Ref.15. Source: UniProtKB nucleus Inferred from direct assay Ref.15. Source: UniProtKB
Complete GO annotation...

Binary interactions

With	Entry	#Exp.	IntAct	Notes
itself		6	EBI-739074,EBI-739074
CRYAB	P02511	2	EBI-739074,EBI-739060
HSPB1	P04792	3	EBI-739074,EBI-352682
HSPB2	Q16082	3	EBI-739074,EBI-739395
HSPB6	O14558	2	EBI-739074,EBI-739095
HSPB7	Q9UBY9	5	EBI-739074,EBI-739361

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 196	196	Heat shock protein beta-8		PRO_0000125945
Amino acid modifications
	Modified residue	24	1	Phosphoserine Ref.13 Ref.14
	Modified residue	63	1	Phosphothreonine; by PKC; in vitro Ref.11
Natural variations
	Natural variant	67	1	G → S in a glioblastoma multiforme sample; somatic mutation. Ref.20		VAR_042244
	Natural variant	78	1	R → M. Ref.20 Corresponds to variant rs55826713 [ dbSNP | Ensembl ].		VAR_042245
	Natural variant	141	1	K → E in HMN2A; strengthen interaction with HSPB1. Ref.18		VAR_018504
	Natural variant	141	1	K → N in HMN2A and CMT2L; strengthen interaction with HSPB1. Ref.18 Ref.19		VAR_018505
Experimental info
	Sequence conflict	51	1	W → C in AAD55359. Ref.3

Sequences

	Sequence		Length	Mass (Da)
	Q9UJY1 [UniParc]. Last modified May 1, 2000. Version 1. Checksum: B76058CED52292CB	FASTA	196	21,604
	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

References

	« Hide 'large scale' referencesShow '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. , 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. , 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. , 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. , 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, 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, MASS SPECTROMETRY. 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, MASS SPECTROMETRY. 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. , 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. , 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. , 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.

Web resources

Inherited peripheral neuropathies mutation db

GeneReviews

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.
IPI	IPI00007264.
RefSeq	NP_055180.1. NM_014365.2.
UniGene	Hs.400095.
3D structure databases
ProteinModelPortal	Q9UJY1.
ModBase	Search...
Protein-protein interaction databases
IntAct	Q9UJY1. 10 interactions.
MINT	MINT-1456822.
STRING	9606.ENSP00000281938.
PTM databases
PhosphoSite	Q9UJY1.
Polymorphism databases
DMDM	13431576.
Proteomic databases
PaxDb	Q9UJY1.
PRIDE	Q9UJY1.
Protocols and materials databases
DNASU	26353.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000281938; ENSP00000281938; ENSG00000152137.
GeneID	26353.
KEGG	hsa:26353.
UCSC	uc001txb.3. human.
Organism-specific databases
CTD	26353.
GeneCards	GC12P119616.
HGNC	HGNC:30171. HSPB8.
HPA	HPA015876.
MIM	158590. phenotype. 608014. gene. 608673. phenotype.
neXtProt	NX_Q9UJY1.
Orphanet	99945. Autosomal dominant Charcot-Marie-Tooth disease type 2L. 139525. Distal hereditary motor neuropathy type 2.
PharmGKB	PA134900173.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG271659.
HOGENOM	HOG000233955.
HOVERGEN	HBG054766.
InParanoid	Q9UJY1.
KO	K08879.
OMA	QTPPYYL.
OrthoDB	EOG4KKZ43.
PhylomeDB	Q9UJY1.
Gene expression databases
Bgee	Q9UJY1.
CleanEx	HS_HSPB8.
Genevestigator	Q9UJY1.
GermOnline	ENSG00000152137. Homo sapiens.
Family and domain databases
InterPro	IPR002068. a-crystallin/Hsp20_dom. IPR001436. Alpha-crystallin/HSP. IPR008978. HSP20-like_chaperone. [Graphical view]
Pfam	PF00011. HSP20. 1 hit. [Graphical view]
PIRSF	PIRSF036514. Sm_HSP_B1. 1 hit.
PRINTS	PR00299. ACRYSTALLIN.
SUPFAM	SSF49764. HSP20_chap. 1 hit.
PROSITE	PS01031. HSP20. 1 hit. [Graphical view]
ProtoNet	Search...
Other
ChiTaRS	HSPB8. human.
GenomeRNAi	26353.
NextBio	48689.
SOURCE	Search...

Entry information

Entry name

HSPB8_HUMAN

Accession

Primary (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:	May 1, 2013
This is version 123 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any 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.