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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

HSPB1 Gene

protein-coding   GIFtS: 71
GCID: GC07P075931

Heat Shock 27kDa Protein 1

(Previous name: heat shock 27kD protein 1)
Microbiology & Infectious Diseases Congress
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Heat Shock 27kDa Protein 11 2     SRP272 3
HSP272 3 5     HSP 272 3
Heat Shock 27kD Protein 11 2     CMT2F2 5
Estrogen-Regulated 24 KDa Protein2 3     HMN2B2 5
Heat Shock 27 KDa Protein2 3     HS.760672
Stress-Responsive Protein 272 3     Hsp252
28 KDa Heat Shock Protein2 3     Heat Shock Protein Beta-12
HSP282 3     HspB13

External Ids:    HGNC: 52461   Entrez Gene: 33152   Ensembl: ENSG000001062117   OMIM: 6021955   UniProtKB: P047923   

Export aliases for HSPB1 gene to outside databases

Previous GC identifers: GC07P074467 GC07P075530 GC07P075544 GC07P075576 GC07P075769 GC07P071018


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for HSPB1 Gene:
The protein encoded by this gene is induced by environmental stress and developmental changes. The encoded protein
is involved in stress resistance and actin organization and translocates from the cytoplasm to the nucleus upon
stress induction. Defects in this gene are a cause of Charcot-Marie-Tooth disease type 2F (CMT2F) and distal
hereditary motor neuropathy (dHMN). (provided by RefSeq, Oct 2008)

GeneCards Summary for HSPB1 Gene: 
HSPB1 (heat shock 27kDa protein 1) is a protein-coding gene. Diseases associated with HSPB1 include distal hereditary motor neuronopathy, type iib, and charcot-marie-tooth disease type 2f, and among its related super-pathways are MAPK signaling pathway and Apoptosis and survival FAS signaling cascades. GO annotations related to this gene include ubiquitin binding and protein kinase binding. An important paralog of this gene is CRYAA.

UniProtKB/Swiss-Prot: HSPB1_HUMAN, P04792
Function: Involved in stress resistance and actin organization

Gene Wiki entry for HSPB1 (Hsp27) Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000007.13  NC_018918.2  NT_007933.15  NT_079595.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the HSPB1 gene promoter:
         STAT1   MyoD   STAT1beta   HNF-4alpha1   c-Ets-1   STAT1alpha   NRF-2   HOXA5   AP-2alpha   AP-2alphaA   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): HSPB1 promoter sequence
   Search SABiosciences Chromatin IP Primers for HSPB1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat HSPB1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 7q11.23   Ensembl cytogenetic band:  7q11.23   HGNC cytogenetic band: 7q11.23

HSPB1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
HSPB1 gene location

GeneLoc information about chromosome 7         GeneLoc Exon Structure

GeneLoc location for GC07P075931:  view genomic region     (about GC identifiers)

Start:
75,931,861 bp from pter      End:
75,933,614 bp from pter
Size:
1,754 bases      Orientation:
plus strand

1 alternative location:
Chr7+,CRA_TCAG 75,264,939-75,266,678     

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: HSPB1_HUMAN, P04792 (See protein sequence)
Recommended Name: Heat shock protein beta-1  
Size: 205 amino acids; 22783 Da
Subunit: Interacts with TGFB1I1 (By similarity). Associates with alpha- and beta-tubulin, microtubules and CRYAB.
Interacts with HSPB8 and HSPBAP1
Subcellular location: Cytoplasm. Nucleus. Cytoplasm, cytoskeleton, spindle. Note=Cytoplasmic in interphase cells.
Colocalizes with mitotic spindles in mitotic cells. Translocates to the nucleus during heat shock and resides in
sub-nuclear structures known as SC35 speckles or nuclear splicing speckles
Sequence caution: Sequence=AAA62175.1; Type=Frameshift; Positions=194; Sequence=AAB20722.1; Type=Frameshift;
Positions=194; Sequence=CAA34498.1; Type=Frameshift; Positions=194;
2 PDB 3D structures from and Proteopedia for HSPB1:
3Q9P (3D)        3Q9Q (3D)    
Secondary accessions: B2R4N8 Q6FI47 Q96C20 Q96EI7 Q9UC31 Q9UC34 Q9UC35 Q9UC36

Explore the universe of human proteins at neXtProt for HSPB1: NX_P04792

Explore proteomics data for HSPB1 at MOPED 

Post-translational modifications:

  • UniProtKB: Phosphorylated in MCF-7 cells on exposure to protein kinase C activators and heat shock
  • UniProtKB: Phosphorylation by MAPKAPK2 and MAPKAPK3 in response to stress leads to dissociate HSP27/HSPB1 from large small
    heat-shock protein (sHsps) oligomers and impair its chaperone activity and ability to protect against oxidative
    stress effectively. Phosphorylation by MAPKAPK5 in response to PKA stimulation induces F-actin rearrangement
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P04792

  • HSPB1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    HSPB1 Protein Expression
    REFSEQ proteins: NP_001531.1  
    ENSEMBL proteins: 
     ENSP00000248553   ENSP00000414357   ENSP00000405285  
    Reactome Protein details: P04792
    Human Recombinant Protein Products for HSPB1: 
    EMD Millipore Purified and/or Recombinant HSPB1 Protein
    R&D Systems Recombinant & Natural Proteins for HSPB1 (HSP27)
    Browse recombinant and purified proteins available from Enzo Life Sciences
    OriGene Purified Protein for HSPB1
    OriGene Protein Over-expression Lysate for HSPB1
    OriGene MassSpec for HSPB1 
    OriGene Custom Protein Services for HSPB1
    GenScript Custom Purified and Recombinant Proteins Services for HSPB1
    Novus Biologicals HSPB1 Proteins
    Novus Biologicals HSPB1 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    ProSpec Recombinant Protein for HSPB1
    Cloud-Clone Corp. Proteins for HSPB1 

    Gene Ontology (GO): 5/11 cellular component terms (GO ID links to tree view) (see all 11):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000502proteasome complex ISS--
    GO:0005622intracellular ----
    GO:0005634nucleus IDA19464326
    GO:0005737cytoplasm TAS16130169
    GO:0005819spindle IEA--

    HSPB1 for ontologies           About GeneDecksing



    HSPB1 Antibody Products: 
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    GenScript Superior Antibodies for HSPB1
    Novus Biologicals HSPB1 Antibodies
    Abcam antibodies for HSPB1
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    ThermoFisher Antibody for HSPB1
    LSBio Antibodies in human, mouse, rat for HSPB1 

    Assay Products for HSPB1: 
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    OriGene Custom Assay Services for HSPB1
    R&D Systems ELISAs for HSPB1 (HSP27)         (see all)
    GenScript Custom Assay Services for HSPB1
    Cell Signaling Technology (CST) Sandwich ELISA Kits for HSPB1 (HSP27)
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for HSPB1 
    Cloud-Clone Corp. CLIAs for HSPB1


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    HSPB: Heat shock proteins / HSPB

    3 InterPro protein domains:
     IPR002068 a-crystallin/Hsp20_dom
     IPR008978 HSP20-like_chaperone
     IPR001436 Alpha-crystallin/HSP

    Graphical View of Domain Structure for InterPro Entry P04792

    ProtoNet protein and cluster: P04792

    1 Blocks protein domain: IPB002068 Heat shock protein Hsp20

    UniProtKB/Swiss-Prot: HSPB1_HUMAN, P04792
    Similarity: Belongs to the small heat shock protein (HSP20) family


    HSPB1 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: HSPB1_HUMAN, P04792
    Function: Involved in stress resistance and actin organization
    Induction: Expressed in response to environmental stresses such as heat shock, or estrogen stimulation in MCF-7
    cells. Up-regulated in response to enterovirus 71 (EV71) infection (at protein level)

         Genatlas biochemistry entry for HSPB1:
    heat shock protein 1,estrogen receptor related

         Gene Ontology (GO): 5/6 molecular function terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005080protein kinase C binding ISS--
    GO:0005515protein binding IPI11003656
    GO:0008426protein kinase C inhibitor activity ISS--
    GO:0019901protein kinase binding IPI8774846
    GO:0042802identical protein binding IPI11003656
         
    HSPB1 for ontologies           About GeneDecksing


    Phenotypes:
         4 GenomeRNAi human phenotypes for HSPB1:
     Downregulation of NF-kappaB pa  Downregulation of NF-kappaB pa  Increased HPV18 LCR reporter a  Increased gamma-H2AX phosphory 

         1 MGI mutant phenotype (inferred from 2 alleles(MGI details for Hspb1):
     normal 

    HSPB1 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Hspb1tm1.1(KOMP)Vlcg for HSPB1

       inGenious Targeting Laboratory - Custom generated mouse model solutions for HSPB1 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for HSPB1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for HSPB1 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for HSPB1 

    miRNA
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    2 QIAGEN miScript miRNA Assays for microRNAs that regulate HSPB1:
    hsa-miR-539 hsa-miR-580
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
    Products:
        
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for HSPB1
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    Gene Editing
    Products:
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    Sirion Biotech Customized adenovirus for overexpression of HSPB1

    Clone
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    Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
    OriGene clones in human, mouse for HSPB1 (see all 7)
    OriGene ORF clones in mouse, rat for HSPB1
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: HSPB1 (NM_001540)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for HSPB1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat HSPB1
    Sirion Biotech Customized lentivirus for stable overexpression of HSPB1 
                         Customized lentivirus expression plasmids for stable overexpression of HSPB1 

    Cell Line
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    GenScript Custom overexpressing Cell Line Services for HSPB1
    Search LifeMap BioReagents cell lines for HSPB1
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HSPB1


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for HSPB1 About   (see all 24)                                                                                              See pathways by source

    SuperPathContained pathways About
    1MAPK signaling pathway
    MAPK signaling pathway0.50
    MAPK signaling pathway0.50
    2Apoptosis and survival Caspase cascade
    Apoptosis and survival FAS signaling cascades0.44
    FAS pathway and Stress induction of HSP regulation0.44
    3Development VEGF signaling via VEGFR2 - generic cascades
    Development VEGF signaling via VEGFR2 - generic cascades0.51
    VEGF - VEGF R2 Signaling Pathways 0.39
    4Metabolism of mRNA
    Metabolism of mRNA0.92
    Metabolism of RNA0.92
    5CDK-mediated phosphorylation and removal of Cdc6
    Destabilization of mRNA by AUF1 (hnRNP D0)0.87
    Regulation of mRNA Stability by Proteins that Bind AU-rich Elements0.63

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    2 EMD Millipore Pathways for HSPB1
        Apoptosis and survival FAS signaling cascades
    Transcription P53 signaling pathway

    2 R&D Systems Pathways for HSPB1
        Apoptosis Signaling Pathways
    VEGF - VEGF R2 Signaling Pathways

    4 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for HSPB1
        VEGF Pathway
    p38 Signaling
    Signaling Involved in Cardiac Hypertrophy
    MAPK Family Pathway

    1 Cell Signaling Technology (CST) Pathway for HSPB1
        MAP Kinase Signaling

    4 GeneGo (Thomson Reuters) Pathways for HSPB1
        Development VEGF signaling via VEGFR2 - generic cascades
    Transcription P53 signaling pathway
    Apoptosis and survival FAS signaling cascades
    Regulation of degradation of deltaF508 CFTR in CF

    5/9 BioSystems Pathways for HSPB1 (see all 9)
        MAPK signaling pathway
    p38 MAPK Signaling Pathway
    FAS pathway and Stress induction of HSP regulation
    IL-6 Signaling Pathway
    TNF-alpha/NF-kB Signaling Pathway

    5        Reactome Pathways for HSPB1
        Regulation of mRNA Stability by Proteins that Bind AU-rich Elements
    Destabilization of mRNA by AUF1 (hnRNP D0)
    Metabolism of RNA
    Metabolism of mRNA
    Gene Expression


    4         Kegg Pathways  (Kegg details for HSPB1):
        MAPK signaling pathway
    VEGF signaling pathway
    Amoebiasis
    Epstein-Barr virus infection


    HSPB1 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for HSPB1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    5/957 Interacting proteins for HSPB1 (P047921, 2, 3 ENSP000002485534) via UniProtKB, MINT, STRING, and/or I2D (see all 957)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ENSG00000206206Q9UER71, 3EBI-352682,EBI-77321 I2D: score=2 
    ENSG00000206279Q9UER71, 3EBI-352682,EBI-77321 I2D: score=2 
    ENSG00000227046Q9UER71, 3EBI-352682,EBI-77321 I2D: score=2 
    ENSG00000231617Q9UER71, 3EBI-352682,EBI-77321 I2D: score=2 
    TP53P046372, 3, ENSP000002693054MINT-4302652 MINT-65132 I2D: score=5 STRING: ENSP00000269305
    About this table

    Gene Ontology (GO): 5/20 biological process terms (GO ID links to tree view) (see all 20):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006446regulation of translational initiation TAS10859165
    GO:0006469negative regulation of protein kinase activity ISS--
    GO:0006928cellular component movement TAS16130169
    GO:0006986response to unfolded protein NAS1560006
    GO:0007243intracellular protein kinase cascade IMP18440775

    HSPB1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    HSPB1 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for HSPB1

    10/122 Novoseek inferred chemical compound relationships for HSPB1 gene (see all 122)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    sb 203580 76.1 51 12801507 (3), 18440775 (3), 11909638 (3), 12694807 (2) (see all 31)
    pd 169316 71.9 7 12694807 (1), 12943527 (1), 16407847 (1), 12801507 (1) (see all 6)
    sodium arsenite 68.1 18 12460802 (2), 11497330 (2), 7737136 (1), 7541446 (1) (see all 11)
    arsenite 52 35 16114012 (5), 8836877 (4), 16840785 (3), 11746514 (3) (see all 12)
    17-(allylamino)-17-demethoxygeldanamycin 51.3 6 19383903 (3), 17173546 (2)
    pd 98,059 48.1 17 11909638 (3), 11483406 (2), 10572244 (2), 11034403 (2) (see all 11)
    sp 600125 46.1 8 12943527 (3), 15062846 (2), 18407296 (1), 16876988 (1) (see all 5)
    n-tosyl-l-phenylalanine chloromethyl ketone 45.5 1 11063135 (1)
    anisomycin 45.2 6 15878347 (1), 11525238 (1), 17767420 (1), 14729728 (1)
    geldanamycin 44.2 10 14633716 (2), 18852129 (1), 16950627 (1), 17108135 (1) (see all 5)

    Search CenterWatch for drugs/clinical trials and news about HSPB1

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for HSPB1 gene: 
    NM_001540.3  

    Unigene Cluster for HSPB1:

    Heat shock 27kDa protein 1
    Hs.520973  [show with all ESTs]
    Unigene Representative Sequence: BM454532
    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000248553(uc003uew.3) ENST00000447574 ENST00000429938(uc010ldj.2)

    Congresses - knowledge worth sharing:  
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

    miRNA
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    DNA2.0 Custom Codon Optimized Gene Synthesis Service for HSPB1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat HSPB1
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      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat HSPB1

    Additional mRNA sequence: 

    AB020027.1 AF086135.1 AK296890.1 AK311446.1 AK311894.1 AL050380.1 BC000510.2 BC012292.1 
    BC012768.2 BC014920.1 BC073768.1 BT019888.1 CR407614.1 CR536489.1 S74571.1 U90906.1 
    X16477.1 X54079.1 

    24/41 DOTS entries (see all 41):

    DT.91648006  DT.97869739  DT.101986742  DT.95186317  DT.100738944  DT.100886895  DT.100886894  DT.95365380 
    DT.100886884  DT.80100707  DT.91870325  DT.100886876  DT.95365364  DT.100886881  DT.86996824  DT.100886873 
    DT.100886879  DT.100886891  DT.100886892  DT.121077547  DT.87009731  DT.95365341  DT.100660034  DT.100886874 

    24/2126 AceView cDNA sequences (see all 2126):

    CR606208 F19424 CB108630 BM551275 BU727974 F26924 BM762153 BQ921034 
    BM746112 CR611496 AU129587 BP368555 AA295701 BM977447 N43786 CD388666 
    BM822025 BI488827 AL050380 AI797266 BE563363 CB123512 F30962 CR536489 

    GeneLoc Exon Structure

    3 Alternative Splicing Database (ASD) splice patterns (SP) for HSPB1    About this scheme

    ExUns: 1 ^ 2a · 2b ^ 3 ^ 4a · 4b · 4c
    SP1:        -     -                           
    SP2:                                          
    SP3:                                          


    ECgene alternative splicing isoforms for HSPB1

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    HSPB1 expression in normal human tissues (normalized intensities)      HSPB1 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CCCAAGCTAG
    HSPB1 Expression
    About this image


    HSPB1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/32 selected tissues (see all 32) fully expand
     
     Epithelium (Reproductive System)    fully expand to see all 5 entries
             vagina ; squamous epithelial cells   
     
     Kidney (Urinary System)    fully expand to see all 4 entries
             Juxtaglomerular Cells Afferent Arteriole
             Renal Collecting Duct System
             kidney ; cells in tubules   
     
     Colon (Gastrointestinal Tract)    fully expand to see all 3 entries
             colon ; peripheral nerve/ganglion   
     
     Uterus
             uterus, post-menopause ; glandular cells   
     
     Smooth Muscle (Muscoskeletal System)    fully expand to see all 2 entries
             Juxtaglomerular Cells Afferent Arteriole
             smooth muscle ; smooth muscle cells   

    See HSPB1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for HSPB1

    SOURCE GeneReport for Unigene cluster: Hs.520973

    UniProtKB/Swiss-Prot: HSPB1_HUMAN, P04792
    Tissue specificity: Detected in all tissues tested: skeletal muscle, heart, aorta, large intestine, small
    intestine, stomach, esophagus, bladder, adrenal gland, thyroid, pancreas, testis, adipose tissue, kidney, liver,
    spleen, cerebral cortex, blood serum and cerebrospinal fluid. Highest levels are found in the heart and in
    tissues composed of striated and smooth muscle

        SABiosciences Expression via Pathway-Focused PCR Arrays including HSPB1 (see all 9): 
              VEGF Signaling in human mouse rat
              Heat Shock Proteins & Chaperones in human mouse rat
              Neurotrophins & Receptors in human mouse rat
              PI3K-AKT Signaling Pathway in human mouse rat
              Apoptosis 384HT in human mouse rat

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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for HSPB1 gene from 6/13 species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Hspb11 , 5 heat shock protein 11, 5 84.07(n)1
    84.88(a)1
      5 (75.51 cM)5
    155071  NM_013560.21  NP_038588.21 
     1358879195 
    chicken
    (Gallus gallus)
    Aves HSPB11 heat shock 27kDa protein 1 74.47(n)
    69.15(a)
      396227  NM_205290.1  NP_990621.1 
    African clawed frog
    (Xenopus laevis)
    Amphibia CB199987.22   -- 74.29(n)    CB199987.2 
    zebrafish
    (Danio rerio)
    Actinopterygii idibd28212 idibd2821 77.23(n)   338191  CD595295.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Hsp236
    Hsp226
    (see all 8)
    Heat shock protein 22
    (see all 8)
    27(a)
    25(a)
    (see all 8)
    many ↔ many
    many ↔ many
    (see all 8)
    3L(9374982-9375865)
    3L(9366031-9368064)
    worm
    (Caenorhabditis elegans)
    Secernentea hsp-176
    hsp-16.496
    (see all 13)
    Heat shock protein Hsp-16.48/Hsp-16.49
    (see all 13)
    31(a)
    28(a)
    (see all 13)
    many ↔ many
    many ↔ many
    (see all 13)
    V(8384774-8385927)
    V(9089280-9089766)


    ENSEMBL Gene Tree for HSPB1 (if available)
    TreeFam Gene Tree for HSPB1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for HSPB1 gene
    CRYAA2  CRYAB2  HSPB22  HSPB82  HSPB2-C11orf522  HSPB62  HSPB32  
    4 SIMAP similar genes for HSPB1 using alignment to 3 protein entries:     HSPB1_HUMAN (see all proteins):
    HSPB3    CRYAA    CRYAB    HSPB8

    HSPB1 for paralogs           About GeneDecksing


    2 Pseudogenes.org Pseudogenes for HSPB1
    PGOHUM00000236206 PGOHUM00000241290


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/179 SNPs in HSPB1 are shown (see all 179)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 7 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0185084
    Charcot-Marie-Tooth disease 2F (CMT2F)4--see VAR_0185082 R W mis40--------
    VAR_0185094
    Neuronopathy, distal hereditary motor, 2B (HMN2B)4--see VAR_0185092 T I mis40--------
    VAR_0185064
    Neuronopathy, distal hereditary motor, 2B (HMN2B)4--see VAR_0185062 R W mis40--------
    VAR_0670854
    Charcot-Marie-Tooth disease 2F (CMT2F)4--see VAR_0670852 T A mis40--------
    VAR_0185104
    Neuronopathy, distal hereditary motor, 2B (HMN2B)4--see VAR_0185102 P L mis40--------
    VAR_0185074
    Neuronopathy, distal hereditary motor, 2B (HMN2B)4--see VAR_0185072 S F mis40--------
    rs290015711,2
    Cpathogenic179240548(+) AGGAGC/TGGCAG 2 R W mis10--------
    rs289396801,2
    Cpathogenic179240573(+) CATCTC/TCCGGT 2 S F mis10--------
    rs289396811,2
    Cpathogenic179240575(+) TCTCCC/TGGTGC 2 R W mis11Minor allele frequency- T:0.00NA 4394
    rs289375681,2
    Cpathogenic179240739(+) CCCCAC/TCCAAG 2 T I mis1 ese30--------

    HapMap Linkage Disequilibrium report for HSPB1 (75931861 - 75933614 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 8 variations for HSPB1:    About this table     
    Variant IDTypeSubtypePubMed ID
    dgv120n16CNV Deletion17901297
    esv2422494CNV Duplication17116639
    nsv5796CNV Insertion18451855
    nsv888387CNV Loss21882294
    nsv519194CNV Loss19592680
    nsv528969CNV Gain19592680
    essv14753CNV CNV17122850
    dgv2104e1CNV Complex17122850


    Human Gene Mutation Database (HGMD): HSPB1

    Locus Specific Mutation Databases (LSDB): HSPB1
    SABiosciences Cancer Mutation PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 602195   
    OMIM disorders: 608634  606595  
    UniProtKB/Swiss-Prot: HSPB1_HUMAN, P04792
  • Charcot-Marie-Tooth disease 2F (CMT2F) [MIM:606595]: A dominant 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. Onset
    of Charcot-Marie-Tooth disease type 2F is between 15 and 25 years with muscle weakness and atrophy usually
    beginning in feet and legs (peroneal distribution). Upper limb involvement occurs later. Note=The disease is
    caused by mutations affecting the gene represented in this entry
  • Neuronopathy, distal hereditary motor, 2B (HMN2B) [MIM:608634]: 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

  • 20/126 diseases for HSPB1 (see all 126):    About MalaCards
    distal hereditary motor neuronopathy, type iib    charcot-marie-tooth disease type 2f    distal hereditary motor neuropathy    autosomal dominant charcot-marie-tooth disease type 2
    anterior spinal artery syndrome    alexander disease    stress cardiomyopathy    spinocerebellar ataxia type 3
    spinocerebellar ataxia type 7    machado-joseph disease    retinal ischemia    charcot-marie-tooth neuropathy type 2
    tooth disease    charcot-marie-tooth disease    charcot-marie-tooth disease type 2    neuropathy
    oral leukoplakia    laryngeal carcinoma    gastric ulcer    endometrial stromal sarcoma

    3 diseases from the University of Copenhagen DISEASES database for HSPB1:
    Charcot-Marie-Tooth disease     Motor neuron disease     Axonal neuropathy

    HSPB1 for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:  
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

    10/96 Novoseek inferred disease relationships for HSPB1 gene (see all 96)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    shock 91.9 686 19224398 (5), 16840785 (4), 1730670 (4), 12423255 (4) (see all 99)
    charcot-marie-tooth disease 62.4 8 17881652 (2), 20178975 (2), 18587268 (1), 16215937 (1) (see all 5)
    alexanders disease 55.4 5 8256860 (2), 8393618 (2), 7541446 (1)
    tumors 45.7 221 9179613 (6), 12820652 (6), 16234246 (5), 8590455 (5) (see all 99)
    breast cancer 44.8 103 15833836 (5), 8402609 (4), 19080259 (4), 9307847 (3) (see all 47)
    carcinoma squamous cell 39.1 36 11836604 (3), 9210326 (2), 14702179 (2), 17366788 (2) (see all 23)
    cancer 36.8 39 19214136 (3), 19436268 (2), 9815962 (2), 17106261 (2) (see all 24)
    ehrlich ascites tumor 35 4 1930221 (2), 8647651 (1), 9665826 (1)
    metastasis 34.3 36 16696328 (2), 9568646 (2), 11836604 (2), 19166925 (1) (see all 21)
    breast carcinoma 31.4 13 1988702 (4), 14715258 (2), 9568111 (1), 7579511 (1) (see all 7)

    GeneTests: HSPB1
    GeneReviews: HSPB1
    Genetic Association Database (GAD): HSPB1
    Human Genome Epidemiology (HuGE) Navigator: HSPB1 (4 documents)

    Export disorders for HSPB1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for HSPB1 gene, integrated from 9 sources (see all 979):
    (articles sorted by number of sources associating them with HSPB1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. cDNA sequence of a human heat shock protein HSP27. (PubMed id 2243808)1, 2, 3 Carper S.W.... Storm F.K. (1990)
    2. Small heat shock protein 27 (HSP27) associates with tubulin/microtubules in HeLa cells. (PubMed id 10777697)1, 2, 9 Hino M.... Hosoya H. (2000)
    3. The 29-kDa proteins phosphorylated in thrombin-activated human platelets are forms of the estrogen receptor-related 27-kDa heat shock protein. (PubMed id 1763035)1, 2, 9 Mendelsohn M.E.... O'Neill S. (1991)
    4. Functional promoter -1271G>C variant of HSPB1 pred icts lung cancer risk and survival. (PubMed id 20231684)1, 4, 9 Guo H....Wu T. (2010)
    5. [Mutation analysis of small heat shock protein 27 gene in Chinese patients with Charcot-Marie-Tooth disease] (PubMed id 16215937)1, 4, 9 Liu X.M....Jiang H. (2005)
    6. Small heat shock proteins are molecular chaperones. (PubMed id 8093612)1, 2, 9 Jakob U....Buchner J. (1993)
    7. Human HSP27 is phosphorylated at serines 78 and 82 by heat shock and mitogen-activated kinases that recognize the same amino acid motif as S6 kinase II. (PubMed id 1730670)1, 2, 9 Landry J....Anderson C.W. (1992)
    8. Identification of MAPKAP kinase 2 as a major enzyme responsible for the phosphorylation of the small mammalian heat shock proteins. (PubMed id 1332886)1, 2, 9 Stokoe D....Gaestel M. (1992)
    9. Examination of Association with Candidate Genes for D iabetic Nephropathy in a Mexican American Population. (PubMed id 20299368)1, 4 Kim S....Adler S.G. (2010)
    10. HSPB7 is a SC35 speckle resident small heat shock pro tein. (PubMed id 19464326)1, 2 Vos M.J....Kampinga H.H. (2009)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 3315 HGNC: 5246 AceView: HSPB1 Ensembl:ENSG00000106211 euGenes: HUgn3315
    ECgene: HSPB1 Kegg: 3315 H-InvDB: HSPB1

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for HSPB1 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for HSPB1 Genetics and Cytogenetics in Oncology and Haematology
    Inherited peripheral neuropathies mutation dbhttp://www.molgen.ua.ac.be/CMTMutations/
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/HSPB1
    NIEHS SNPshttp://egp.gs.washington.edu/data/hspb1/

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for HSPB1 gene:
    Search GeneIP for patents involving HSPB1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, Cell lines from GenScript, and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
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    About This Section

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