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HSPB1 Gene

protein-coding   GIFtS: 71
GCID: GC07P075931

Heat Shock 27kDa Protein 1

(Previous name: heat shock 27kD protein 1)
  See HSPB1-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)
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Aliases
Heat Shock 27kDa Protein 11 2     HSP 272 3
HSP272 3 5     CMT2F2 5
Heat Shock 27kD Protein 11 2     HMN2B2 5
Estrogen-Regulated 24 KDa Protein2 3     HEL-S-1022
Heat Shock 27 KDa Protein2 3     HS.760672
Stress-Responsive Protein 272 3     Hsp252
28 KDa Heat Shock Protein2 3     Epididymis Secretory Protein Li 1022
HSP282 3     Heat Shock Protein Beta-12
SRP272 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, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 charcot-marie-tooth disease type 2f, and neuropathy, distal hereditary motor, type iib. GO annotations related to this gene include protein kinase C binding and identical protein 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000007.13  NC_018918.2  NT_007933.16  
Regulatory elements:
   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 Chromatin IP Primers for HSPB1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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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
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: 

  • Phosphorylated in MCF-7 cells on exposure to protein kinase C activators and heat shock1
  • 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 rearrangement1
  • Ubiquitination2 at Lys198
  • Modification sites at PhosphoSitePlus

  • See HSPB1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_001531.1  
    ENSEMBL proteins: 
     ENSP00000248553   ENSP00000414357   ENSP00000405285  
    Reactome Protein details: P04792

    HSPB1 Human Recombinant Protein Products:

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    OriGene Purified Protein for HSPB1
    OriGene Protein Over-expression Lysate for HSPB1
    OriGene MassSpec for HSPB1
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    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

     
    Search eBioscience for Proteins for HSPB1 

     
    antibodies-online proteins for HSPB1 (36 products) 

     
    antibodies-online peptides for HSPB1

    HSPB1 Antibody Products:

    EMD Millipore Mono- and Polyclonal Antibodies for the study of HSPB1
    R&D Systems Antibodies for HSPB1 (HSP27)
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    OriGene Antibodies for HSPB1
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    Novus Biologicals HSPB1 Antibodies
    Abcam antibodies for HSPB1
    Cloud-Clone Corp. Antibodies for HSPB1
    ThermoFisher Antibody for HSPB1
    antibodies-online antibodies for HSPB1 (481 products) 

    HSPB1 Assay Products:

    Browse Kits and Assays available from EMD Millipore
    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
    eBioscience ELISAs for HSPB1:  
                        Human HSP27 Platinum ELISA 96 tests
    antibodies-online kits for HSPB1 (27 products) 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    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


    Find genes that share domains with HSPB1           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    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): Selected molecular function terms (see all 7):    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
         
    Find genes that share ontologies with HSPB1           About GenesLikeMe


    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 

         2 MGI mutant phenotypes (inferred from 3 alleles(MGI details for Hspb1):
     no phenotypic analysis  normal 

    Find genes that share phenotypes with HSPB1           About GenesLikeMe

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

       genOway: Develop your customized and physiologically relevant rodent model for HSPB1

    miRNA
    Products:
        
    Block miRNA regulation of human, mouse, rat HSPB1 using miScript Target Protectors
    2 qRT-PCR Assays for microRNAs that regulate HSPB1:
    hsa-miR-539 hsa-miR-580
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for HSPB1
    Predesigned siRNA for gene silencing in human, mouse, rat HSPB1

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for HSPB1

    Clone
    Products:
         
    OriGene clones in human, mouse for HSPB1 (see all 6)
    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)
    Sino Biological Human cDNA Clone for HSPB1
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for HSPB1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat HSPB1
    Addgene plasmids for HSPB1 

    Cell Line
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    Browse ESI BIO Cell Lines and PureStem Progenitors for HSPB1 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HSPB1


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    HSPB1_HUMAN, P04792: 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
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytoskeleton5
    nucleus5
    cytosol4
    plasma membrane3
    extracellular1
    mitochondrion1
    peroxisome1

    Gene Ontology (GO): Selected cellular component terms (see all 12):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000502proteasome complex ISS--
    GO:0005615extracellular space IDA--
    GO:0005622intracellular ----
    GO:0005634nucleus IDA19464326
    GO:0005737cytoplasm TAS16130169

    Find genes that share ontologies with HSPB1           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to 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 QIAGEN, 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 Apr 2014 via Entrez Gene).
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    SuperPaths for HSPB1 About   (see all 22)  
    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
    3Immune response Fc epsilon RI pathway
    VEGF signaling pathway0.39
    VEGF - VEGF R2 Signaling Pathways0.35
    4CDK-mediated phosphorylation and removal of Cdc6
    Destabilization of mRNA by AUF1 (hnRNP D0)0.88
    Regulation of mRNA Stability by Proteins that Bind AU-rich Elements0.62
    5VEGF Pathway
    VEGF Pathway0.66


    Find genes that share SuperPaths with HSPB1           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

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

    4 Downloadable PowerPoint Slides of GeneGlobe 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

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


    1 Reactome Pathway for HSPB1
        AUF1 (hnRNP D0) destabilizes mRNA


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

        Pathway & Disease-focused RT2 Profiler 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

    Interactions:

        GeneGlobe Interaction Network for HSPB1

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

    Selected Interacting proteins for HSPB1 (P047921, 2, 3 ENSP000002485534) via UniProtKB, MINT, STRING, and/or I2D (see all 1014)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    TP53P046371, 2, 3, ENSP000002693054EBI-352682,EBI-366083 MINT-4302652 MINT-65132 I2D: score=5 STRING: ENSP00000269305
    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 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 23):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001895retina homeostasis IEP--
    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

    Find genes that share ontologies with HSPB1           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for HSPB1

    Selected 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)



    Find genes that share compounds with HSPB1           About GenesLikeMe



    (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,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    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)

    miRNA
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    hsa-miR-539 hsa-miR-580
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
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    Clone
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    GenScript: all cDNA clones in your preferred vector: HSPB1 (NM_001540)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for HSPB1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat HSPB1
    Addgene plasmids for HSPB1 
    Primer
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    OriGene qPCR primer pairs and template standards for HSPB1
    OriGene qSTAR qPCR primer pairs in human, mouse for HSPB1
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat HSPB1
      QuantiTect SYBR Green Assays in human, mouse, rat HSPB1
      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 

    Selected 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 

    Selected AceView cDNA sequences (see all 2126):

    BM757401 BF340205 BM423486 AA310085 BE302647 BU734636 CD676345 BM846132 
    CA435488 F35603 F35262 BM834047 BQ932518 BQ777693 BM838285 BX444208 
    AI418952 BM783483 BM919872 BQ778227 BM787855 BM840712 BU955961 BQ613789 

    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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

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    HSPB1 expression in normal human tissues (normalized intensities)
    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
     selected tissues (see all 22) fully expand
     
     Kidney (Urinary System)    fully expand to see all 3 entries
             Juxtaglomerular Cells Afferent Arteriole
             Renal Collecting Duct System
     
     Ovary (Reproductive System)    fully expand to see all 2 entries
             Ovarian Mesenchymal Stroma Cells Ovary Interstitium
             Oviduct
     
     Pancreas (Endocrine System)
             Duct Cells Pancreatic Ducts
     
     Epithelial Cells
             Duct Cells Pancreatic Ducts
     
     Smooth Muscle (Muscoskeletal System)
             Juxtaglomerular Cells Afferent Arteriole
    HSPB1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    HSPB1 Protein Expression

    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

        Pathway & Disease-focused RT2 Profiler 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)
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    This gene was present in the common ancestor of chordates.

    Orthologs for HSPB1 gene from Selected species (see all 12)    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 


    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)
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    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

    Find genes that share paralogs with HSPB1           About GenesLikeMe


    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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for HSPB1 (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

    Site Specific Mutation Identification with PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    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 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. 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

  • 16 diseases for HSPB1:    
    About MalaCards
    charcot-marie-tooth disease type 2f    neuropathy, distal hereditary motor, type iib    distal hereditary motor neuronopathy, type iib    distal hereditary motor neuropathy
    charcot-marie-tooth disease type 2    neuronopathy, distal hereditary motor, type iid    thrombocythemia 3    autosomal dominant charcot-marie-tooth disease type 2
    spinocerebellar ataxia type 3    alexander disease    spinocerebellar ataxia type 7    tooth disease
    charcot-marie-tooth disease    charcot-marie-tooth neuropathy type 2    neuropathy    amyotrophic lateral sclerosis

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

    Find genes that share disorders with HSPB1           About GenesLikeMe

    Selected 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)
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    PubMed articles for HSPB1 gene, integrated from 10 sources (see all 996):
    (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. (Nucleic Acids Res. 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. (Biochem. Biophys. Res. Commun. 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. (Proc. Natl. Acad. Sci. U.S.A. 1991)
    4. Functional promoter -1271G&gt;C variant of HSPB1 predicts lung cancer risk and survival. (PubMed id 20231684)1, 4, 9 Guo H....Wu T. (J. Clin. Oncol. 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. (Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2005)
    6. Small heat shock proteins are molecular chaperones. (PubMed id 8093612)1, 2, 9 Jakob U.... Buchner J. (J. Biol. Chem. 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. (J. Biol. Chem. 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. (FEBS Lett. 1992)
    9. Examination of association with candidate genes for diabetic nephropathy in a Mexican American population. (PubMed id 20299368)1, 4 Kim S....Adler S.G. (Clin J Am Soc Nephrol 2010)
    10. HSPB7 is a SC35 speckle resident small heat shock protein. (PubMed id 19464326)1, 2 Vos M.J.... Kampinga H.H. (Biochim. Biophys. Acta 2009)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     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)
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    Entrez Gene: 3315 HGNC: 5246 AceView: HSPB1 Ensembl:ENSG00000106211 euGenes: HUgn3315
    ECgene: HSPB1 Kegg: 3315 H-InvDB: HSPB1

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    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/books/NBK1116/?term=HSPB1[genesymbol]
    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.)
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    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



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