HSPB8

HSPB8
Identifiers
AliasesHSPB8, CMT2L, DHMN2, E2IG1, H11, HMN2, HMN2A, HSP22, heat shock protein family B (small) member 8
External IDsOMIM: 608014; MGI: 2135756; HomoloGene: 8654; GeneCards: HSPB8; OMA:HSPB8 - orthologs
Gene location (Human)
Chromosome 12 (human)
Chr.Chromosome 12 (human)[1]
Chromosome 12 (human)
Genomic location for HSPB8
Genomic location for HSPB8
Band12q24.23Start119,171,555 bp[1]
End119,224,855 bp[1]
Gene location (Mouse)
Chromosome 5 (mouse)
Chr.Chromosome 5 (mouse)[2]
Chromosome 5 (mouse)
Genomic location for HSPB8
Genomic location for HSPB8
Band5 F|5 56.41 cMStart116,546,550 bp[2]
End116,560,923 bp[2]
RNA expression pattern
Bgee
HumanMouse (ortholog)
Top expressed in
  • Skeletal muscle tissue of rectus abdominis

  • gastric mucosa

  • gastrocnemius muscle

  • muscle of thigh

  • left ventricle

  • right auricle

  • right ventricle

  • glutes

  • body of tongue

  • apex of heart
Top expressed in
  • gastrula

  • muscle of thigh

  • facial motor nucleus

  • right ventricle

  • decidua

  • gastrocnemius muscle

  • lip

  • triceps brachii muscle

  • ankle

  • myocardium of ventricle
More reference expression data
BioGPS
More reference expression data
Gene ontology
Molecular function
  • protein kinase activity
  • protein binding
  • identical protein binding
  • protein homodimerization activity
Cellular component
  • cytoplasm
  • intracellular anatomical structure
  • nucleus
  • nucleoplasm
  • cytosol
  • chaperone complex
Biological process
  • regulation of cellular response to heat
  • biological process
  • protein phosphorylation
  • Unfolded Protein Response
  • positive regulation of aggrephagy
Sources:Amigo / QuickGO
Orthologs
SpeciesHumanMouse
Entrez

26353

80888

Ensembl

ENSG00000152137

ENSMUSG00000041548

UniProt

Q9UJY1

Q9JK92

RefSeq (mRNA)

NM_014365

NM_030704

RefSeq (protein)

NP_055180

NP_109629.1

Location (UCSC)Chr 12: 119.17 – 119.22 MbChr 5: 116.55 – 116.56 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Heat shock protein beta-8 is a protein that in humans is encoded by the HSPB8 gene.[5][6][7]

Interactions

HSPB8 has been shown to interact with:


Clinical importance

Mutations in this gene have been associated with an autosomal dominant rimmed vacuolar myopathy[11] The clinical features of this condition are distal and proximal myopathy. MRI show severe relatively symmetric multifocal fatty degenerative changes within the muscles. Muscle biopsy shows rimmed vacuoles, muscle fiber atrophy and endomysial fibrosis.

References

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000152137 – Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000041548 – Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ Smith CC, Yu YX, Kulka M, Aurelian L (Sep 2000). "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". J Biol Chem. 275 (33): 25690–9. doi:10.1074/jbc.M002140200. PMID 10833516.
  6. ^ Charpentier AH, Bednarek AK, Daniel RL, Hawkins KA, Laflin KJ, Gaddis S, MacLeod MC, Aldaz CM (Nov 2000). "Effects of estrogen on global gene expression: identification of novel targets of estrogen action". Cancer Res. 60 (21): 5977–83. PMID 11085516.
  7. ^ "Entrez Gene: HSPB8 Heat shock 22kDa protein 8".
  8. ^ a b Sun X, Fontaine JM, Rest JS, Shelden EA, Welsh MJ, Benndorf R (Jan 2004). "Interaction of human HSP22 (HSPB8) with other small heat shock proteins". J. Biol. Chem. 279 (4): 2394–402. doi:10.1074/jbc.M311324200. PMID 14594798.
  9. ^ Benndorf R, Sun X, Gilmont RR, Biederman KJ, Molloy MP, Goodmurphy CW, Cheng H, Andrews PC, Welsh MJ (Jul 2001). "HSP22, a new member of the small heat shock protein superfamily, interacts with mimic of phosphorylated HSP27 ((3D)HSP27)". J. Biol. Chem. 276 (29): 26753–61. doi:10.1074/jbc.M103001200. PMID 11342557.
  10. ^ 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, Van Broeckhoven C, Gettemans J, De Jonghe P, Timmerman V (Jun 2004). "Hot-spot residue in small heat-shock protein 22 causes distal motor neuropathy". Nat. Genet. 36 (6): 597–601. doi:10.1038/ng1328. PMID 15122253.
  11. ^ Al-Tahan S, Weiss L, Yu H, Tang S, Saporta M, Vihola A, Mozaffar T, Udd B, Kimonis V (2019) New family with HSPB8-associated autosomal dominant rimmed vacuolar myopathy. Neurol Genet 5(4):e349

Further reading

  • Hu Z, Chen L, Zhang J, Li T, Tang J, Xu N, Wang X (2007). "Structure, function, property, and role in neurologic diseases and other diseases of the sHsp22". J. Neurosci. Res. 85 (10): 2071–9. doi:10.1002/jnr.21231. PMID 17304582. S2CID 24954607.
  • Timmerman V, Raeymaekers P, Nelis E, De Jonghe P, Muylle L, Ceuterick C, Martin JJ, Van Broeckhoven C (1992). "Linkage analysis of distal hereditary motor neuropathy type II (distal HMN II) in a single pedigree". J. Neurol. Sci. 109 (1): 41–8. doi:10.1016/0022-510X(92)90091-X. PMID 1517763. S2CID 6407563.
  • Berciano J, Combarros O, Figols J, Calleja J, Cabello A, Silos I, Coria F (1986). "Hereditary motor and sensory neuropathy type II. Clinicopathological study of a family". Brain. 109 ( Pt 5) (5): 897–914. doi:10.1093/brain/109.5.897. PMID 3022865.
  • Jansen PH, Joosten EM, Jaspar HH, Vingerhoets HM (1986). "A rapidly progressive autosomal dominant scapulohumeral form of spinal muscular atrophy". Ann. Neurol. 20 (4): 538–40. doi:10.1002/ana.410200417. PMID 3789668. S2CID 1055931.
  • Meadows JC, Marsden CD (1969). "A distal form of chronic spinal muscular atrophy". Neurology. 19 (1): 53–8. doi:10.1212/wnl.19.1.53. PMID 5813127. S2CID 5258269.
  • D'Alessandro R, Montagna P, Govoni E, Pazzaglia P (1982). "Benign familial spinal muscular atrophy with hypertrophy of the calves". Arch. Neurol. 39 (10): 657–60. doi:10.1001/archneur.1982.00510220055013. PMID 7125978.
  • Groen RJ, Sie OG, van Weerden TW (1993). "Dominant inherited distal spinal muscular atrophy with atrophic and hypertrophic calves". J. Neurol. Sci. 114 (1): 81–4. doi:10.1016/0022-510X(93)90053-2. PMID 8433103. S2CID 42659924.
  • Timmerman V, De Jonghe P, Simokovic S, Löfgren A, Beuten J, Nelis E, Ceuterick C, Martin JJ, Van Broeckhoven C (1997). "Distal hereditary motor neuropathy type II (distal HMN II): mapping of a locus to chromosome 12q24". Hum. Mol. Genet. 5 (7): 1065–9. doi:10.1093/hmg/5.7.1065. PMID 8817349.
  • Irobi J, Tissir F, De Jonghe P, De Vriendt E, Van Broeckhoven C, Timmerman V, Beuten J (2000). "A clone contig of 12q24.3 encompassing the distal hereditary motor neuropathy type II gene". Genomics. 65 (1): 34–43. doi:10.1006/geno.2000.6149. PMID 10777663.
  • Aurelian L, Smith CC, Winchurch R, Kulka M, Gyotoku T, Zaccaro L, Chrest FJ, Burnett JW (2001). "A novel gene expressed in human keratinocytes with long-term in vitro growth potential is required for cell growth". J. Invest. Dermatol. 116 (2): 286–95. doi:10.1046/j.1523-1747.2001.00191.x. PMID 11180006.
  • Wiemann S, Weil B, Wellenreuther R, Gassenhuber J, Glassl S, Ansorge W, Böcher M, Blöcker H, Bauersachs S, Blum H, Lauber J, Düsterhöft A, Beyer A, Köhrer K, Strack N, Mewes HW, Ottenwälder B, Obermaier B, Tampe J, Heubner D, Wambutt R, Korn B, Klein M, Poustka A (2001). "Toward a Catalog of Human Genes and Proteins: Sequencing and Analysis of 500 Novel Complete Protein Coding Human cDNAs". Genome Res. 11 (3): 422–35. doi:10.1101/gr.GR1547R. PMC 311072. PMID 11230166.
  • Simpson JC, Wellenreuther R, Poustka A, Pepperkok R, Wiemann S (2001). "Systematic subcellular localization of novel proteins identified by large-scale cDNA sequencing". EMBO Rep. 1 (3): 287–92. doi:10.1093/embo-reports/kvd058. PMC 1083732. PMID 11256614.
  • Yu YX, Heller A, Liehr T, Smith CC, Aurelian L (2001). "Expression analysis and chromosome location of a novel gene (H11) associated with the growth of human melanoma cells". Int. J. Oncol. 18 (5): 905–11. doi:10.3892/ijo.18.5.905. PMID 11295034.
  • Benndorf R, Sun X, Gilmont RR, Biederman KJ, Molloy MP, Goodmurphy CW, Cheng H, Andrews PC, Welsh MJ (2001). "HSP22, a new member of the small heat shock protein superfamily, interacts with mimic of phosphorylated HSP27 ((3D)HSP27)". J. Biol. Chem. 276 (29): 26753–61. doi:10.1074/jbc.M103001200. PMID 11342557.
  • Kappé G, Verschuure P, Philipsen RL, Staalduinen AA, Van de Boogaart P, Boelens WC, De Jong WW (2001). "Characterization of two novel human small heat shock proteins: protein kinase-related HspB8 and testis-specific HspB9". Biochim. Biophys. Acta. 1520 (1): 1–6. doi:10.1016/s0167-4781(01)00237-8. PMID 11470154.
  • Suzuki H, Fukunishi Y, Kagawa I, Saito R, Oda H, Endo T, Kondo S, Bono H, Okazaki Y, Hayashizaki Y (2001). "Protein–Protein Interaction Panel Using Mouse Full-Length cDNAs". Genome Res. 11 (10): 1758–65. doi:10.1101/gr.180101. PMC 311163. PMID 11591653.
  • Molloy MP, Andrews PC (2002). "Phosphopeptide derivatization signatures to identify serine and threonine phosphorylated peptides by mass spectrometry". Anal. Chem. 73 (22): 5387–94. doi:10.1021/ac0104227. PMID 11816564.
  • Depre C, Hase M, Gaussin V, Zajac A, Wang L, Hittinger L, Ghaleh B, Yu X, Kudej RK, Wagner T, Sadoshima J, Vatner SF (2002). "H11 kinase is a novel mediator of myocardial hypertrophy in vivo". Circ. Res. 91 (11): 1007–14. doi:10.1161/01.RES.0000044380.54893.4B. PMID 12456486. S2CID 2833994.

External links

  • GeneReviews/NCBI/NIH/UW entry on Charcot-Marie-Tooth Neuropathy Type 2


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