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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

HSPB1 Gene

protein-coding GIFtS: 70
GCID: GC07P075931

heat shock 27kDa protein 1

(Previous name: heat shock 27kD protein 1 )

Explore 142 diseases affiliated with
HSPB1 via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Heat Shock 27kDa Protein 1¹ ²		28 KDa Heat Shock Protein² ³
HSP27¹ ² ³ ⁵		SRP27² ³
HSP28¹ ² ³		HSP 27² ³
Hsp25¹ ²		CMT2F² ⁵
Heat Shock 27kD Protein 1¹ ²		HMN2B² ⁵
Estrogen-Regulated 24 KDa Protein² ³		HS.76067²
Heat Shock 27 KDa Protein² ³		Heat Shock Protein Beta-1²
Stress-Responsive Protein 27² 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:

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)

UniProtKB/Swiss-Prot: HSPB1_HUMAN, P04792

Function: Involved in stress resistance and actin organization

Gene Wiki entry for HSPB1 (Hsp27)

(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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000007.13 NC_018918.1 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 ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
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

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

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_P04792

HSPB1 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins: NP_001531.1

ENSEMBL proteins:

ENSP00000248553 ENSP00000414357 ENSP00000405285

Reactome Protein details: P04792
Human Recombinant Protein Products:

	EMD Millipore Purified and/or Recombinant HSPB1 Protein
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	Novus Biologicals HSPB1 Proteins Novus Biologicals HSPB1 Lysates
	Browse Sino Biological Recombinant Proteins
	ProSpec Recombinant Protein for HSPB1
	Uscn Proteins for HSPB1

Gene Ontology (GO): 5/13 cellular component terms (GO ID links to tree view) (see all 13): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0000502	proteasome complex	ISS	--
GO:0005622	intracellular	--	--
GO:0005625	soluble fraction	--	--
GO:0005626	insoluble fraction	--	--
GO:0005634	nucleus	IDA	19464326

HSPB1 for ontologies About GeneDecksing

HSPB1 Antibody Products:

	EMD Millipore Mono- and Polyclonal Antibodies for the study of HSPB1
	R&D Systems Antibodies for HSPB1 (HSP27)
	Cell Signaling Technology (CST) Antibodies for HSPB1 (HSP27)
	OriGene Antibodies (see all 13): HSPB1 OriGene Custom Antibody Services for HSPB1
	GenScript Superior Antibodies for HSPB1
	Novus Biologicals HSPB1 Antibodies
	Abcam antibodies for HSPB1
	Uscn Antibodies for HSPB1
	ThermoFisher Antibody for HSPB1

Assay Products for HSPB1:

	EMD Millipore Kits and Assays for the Analysis of HSPB1
	OriGene Custom Immunoassay Development Browse OriGene Fluorogenic Cell Assay Kits
	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
	Uscn ELISAs and CLIAs for HSPB1

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

HSPB1 for domains About GeneDecksing

3 InterPro domains/families:

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 family: IPB002068 Heat shock protein Hsp20

UniProtKB/Swiss-Prot: HSPB1_HUMAN, P04792

Similarity: Belongs to the small heat shock protein (HSP20) family

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
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, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Function Summary:

UniProtKB/Swiss-Prot: 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

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		hsa-miR-539 hsa-miR-580
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Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
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Gene Editing
Products:

DNA2.0 Custom Protein Engineering Service for HSPB1

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

In Situ Assay
Products:

Search Advanced Cell Diagnostics for RNAscope RNA in situ hybridization assays for HSPB1

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

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005080	protein kinase C binding	ISS	--
GO:0005515	protein binding	IPI	--
GO:0008426	protein kinase C inhibitor activity	ISS	--
GO:0019901	protein kinase binding	IPI	8774846
GO:0043130	ubiquitin binding	ISS	--

HSPB1 for ontologies About GeneDecksing

4 GenomeRNAi human phenotypes for HSPB1:

Downregulation of NF-kappaB pa

Increased HPV18 LCR reporter a

Increased gamma-H2AX phosphory

Animal Models:
1 MGI mutant phenotype (inferred from 1 allele) (MGI details for Hspb1):

normal

HSPB1 for phenotypes About GeneDecksing

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways - 5/24 super-pathways (see all 24) About this table

See pathways by source

Super-pathway

contained gene-specific pathways

Apoptosis and survival_Caspase cascade

	Apoptosis and survival_FAS signaling cascades	0.44			FAS pathway and Stress induction of HSP regulation	0.33
	Apoptosis and survival FAS signaling cascades	0.44

Transcription_P53 signaling pathway

Transcription_P53 signaling pathway

1.00

Transcription P53 signaling pathway

0.98

Metabolism of mRNA

Metabolism of mRNA

1.00

Metabolism of RNA

0.92

MAPK signaling pathway

MAPK signaling pathway

1.00

MAPK signaling pathway

0.50

Ubiquitinated Orc1 is degraded by the proteasome

Destabilization of mRNA by AUF1 (hnRNP D0)

0.87

Regulation of mRNA Stability by Proteins that Bind AU-rich Elements

0.55

Pathway sources
See GeneCards unified pathways
Show all pathways

2 EMD Millipore Pathways for HSPB1

	Apoptosis and survival FAS signaling cascades
	Transcription P53 signaling pathway

1 R&D Systems Pathway for HSPB1

Apoptosis 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)

	FAS pathway and Stress induction of HSP regulation
	p38 MAPK Signaling Pathway
	MAPK signaling pathway
	IL-3 Signaling Pathway
	IL-6 Signaling Pathway

5/6 Reactome Pathways for HSPB1 (see all 6)

	Regulation of mRNA Stability by Proteins that Bind AU-rich Elements
	Ubiquitination of AUF1 (hnRNP D0)
	Destabilization of mRNA by AUF1 (hnRNP D0)
	Metabolism of RNA
	Metabolism of mRNA

3 Kegg Pathways (Kegg details for HSPB1):

	MAPK signaling pathway
	VEGF signaling pathway
	Amoebiasis

HSPB1 for pathways About GeneDecksing

Interactions:

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for HSPB1

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

5/910 Interacting proteins for HSPB1 (P04792^{1, 2, 3} ENSP00000248553⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 910)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
TP53	P04637²^,³, ENSP00000269305⁴	MINT-4302652 MINT-65132 I2D: score=5 STRING: ENSP00000269305
PSMC6	P62333²^,³, ENSP00000401802⁴	MINT-7945693 MINT-7947479 I2D: score=1 STRING: ENSP00000401802
UCHL5	Q9Y5K5²^,³, ENSP00000356425⁴	MINT-7945693 MINT-7947479 I2D: score=1 STRING: ENSP00000356425
PPA1	Q15181²^,³, ENSP00000362329⁴	MINT-65133 I2D: score=4 STRING: ENSP00000362329
MAPKAPK2	P49137¹^,³, ENSP00000356070⁴	EBI-352682,EBI-993299 I2D: score=3 STRING: ENSP00000356070

About this table

Gene Ontology (GO): 5/22 biological process terms (GO ID links to tree view) (see all 22): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0001525	angiogenesis	--	--
GO:0006446	regulation of translational initiation	TAS	10859165
GO:0006469	negative regulation of protein kinase activity	ISS	--
GO:0006928	cellular component movement	TAS	16130169
GO:0006986	response to unfolded protein	NAS	1560006

HSPB1 for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, 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 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 235 Homo sapiens; Mar 10 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,
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, 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: BM907768

3 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000248553(uc003uew.3) ENST00000447574 ENST00000429938(uc010ldj.2)

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		hsa-miR-539 hsa-miR-580
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Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
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		QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat HSPB1
		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat HSPB1

Additional cDNA 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

24/42 DOTS entries (see all 42):

DT.91648006 DT.97869739 DT.101986742 DT.95186317 DT.100886895 DT.100738944 DT.100886894 DT.95365380

DT.100886884 DT.80100707 DT.91870325 DT.95365364 DT.100886876 DT.100886881 DT.87009731 DT.100886879

DT.86996824 DT.100886873 DT.100886882 DT.100886891 DT.100886892 DT.121077547 DT.91702605 DT.95365341

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

BQ441696 BU728443 BM761566 CD675553 BG752568 BM705945 BU728252 F28436

BQ048900 BQ923242 BM844308 CD674734 BE621368 BM825369 CR607252 BQ931855

BQ613789 X54079 BM464159 AW160938 CB139332 CR609210 CA393746 CB106798

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)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: CCCAAGCTAG

About this image

HSPB1 expression in embryonic tissues and stem cells

Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

3 LifeMap In Vivo Development Anatomical Compartments/Cells

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Eye

Inner Nuclear Layer

GABAergic Amacrine Cells

Amacrine, Retina

Kidney

Afferent Arteriole

Juxtaglomerular Cells

Kidney, Smooth Muscle

Kidney

Renal Collecting Duct System

Kidney

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

Stem Cell Differentiation: 2 LifeMap Cells

Name

Category

Sox17-GFP genetically modified stem cells (Embryonic Stem Cell)

Early Embryo, Inner Cell Mass

Definitive endoderm-like cells (A scalable, suspensi...)

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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		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat HSPB1

In Situ
Assay Products:

Search Advanced Cell Diagnostics for RNAscope RNA in situ hybridization assays for HSPB1

(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 4/17 species (see all 17) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
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	l(2)efl⁶ Hsp23⁶ (see all 9)	Heat shock protein 23 (see all 9)	32(a) 27(a) (see all 9)	many ↔ many many ↔ many (see all 9)	2R(19572174-19573063) 3L(9374982-9375865)

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 HSPB2-C11orf52² HSPB8² HSPB2² HSPB6² HSPB3²

5 SIMAP similar genes for HSPB1 using alignment to 3 protein entries: HSPB1_HUMAN (see all proteins):

HSPB3 CRYAA CRYAB HSPB8 HSPB2

HSPB1 for paralogs About GeneDecksing

2 Pseudogenes.org Pseudogenes for HSPB1
PGOHUM00000236206 PGOHUM00000241290

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, 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

SNP ID	Valid	Clinical significance	Chr 7 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs28937568^1,2	C	pathogenic	75266388(+)	`CCCCAC/TCCAAG`	2	T I	mis¹ ese³		1		NA	2
rs104894020^1,2	C	pathogenic	75266480(+)	`CCATCC/TCAGTC`	2	P S	mis¹		0	--	--	--	--
rs28937569^1,2	C	pathogenic	75266481(+)	`CATCCC/TAGTCA`	2	P L	mis¹ ese³		2		NA	4
rs10252296^1,2	C,F,H,	--	75263738(+)	`GTTACC/TATCAT`	1	--	us2k¹		10		NS EA NA WA	1106
rs2903814^1,2	C,F,H,	--	75263786(-)	`TTAGAT/GTCTTT`	1	--	us2k¹		7		NS EA NA WA	542
rs73140030^1,2		--	75263880(+)	`ACACCA/GGATTA`	1	--	us2k¹		0	--	--	--	--
rs117360942^1,2	C,F,	--	75263890(+)	`ACTAGA/GTTGCT`	1	--	us2k¹		1		NA	120
rs78344936^1,2	C,	--	75264499(+)	`CAAAGA/TGCTGA`	1	--	us2k¹		1		WA	2
rs200627007^1,2	C	--	75264685(+)	`TCCAAC/TCCTGC`	1	--	us2k¹		0	--	--	--	--
rs6963310^1,2	C,F,H,	--	75264740(+)	`TCTGTC/TCTCCT`	1	--	us2k¹		12		NS EA NA	890

HapMap Linkage Disequilibrium report for HSPB1 (75931861 - 75933614 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 3 variations for HSPB1
3 CNVs: 3686 5241 22956
Human Gene Mutation Database (HGMD): HSPB1

Locus Specific Mutation Databases (LSDB): HSPB1

SABiosciences Cancer Mutation PCR Assays

Search QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing HSPB1

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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.)
About This Section

HSPB1 for disorders           About GeneDecksing

OMIM gene information: 602195
OMIM disorders: 608634  606595
UniProtKB/Swiss-Prot: HSPB1_HUMAN, P04792

Defects in HSPB1 are the cause of Charcot-Marie-Tooth disease type 2F (CMT2F) [MIM:606595]. CMT2F is a form of

Charcot-Marie-Tooth disease, the most common inherited disorder of the peripheral nervous system. Charcot-Marie-Tooth

disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary

peripheral demyelinating neuropathy or CMT1, and primary peripheral axonal neuropathy or 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. CMT2F onset is between 15 and 25 years with muscle weakness and atrophy

usually beginning in feet and legs (peroneal distribution). Upper limb involvement occurs later. CMT2F inheritance is

autosomal dominant

Defects in HSPB1 are a cause of distal hereditary motor neuronopathy type 2B (HMN2B) [MIM:608634]. Distal

hereditary motor neuronopathies constitute a heterogeneous group of neuromuscular disorders caused by selective

impairment 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

20/142 diseases for HSPB1 (see all 142): About MalaCards

charcot-marie-tooth disease charcot-marie-tooth disease type 2f charcot-marie-tooth disease type 2 distal hereditary motor neuropathy

charcot-marie-tooth neuropathy tooth disease charcot-marie-tooth neuropathy type 2 machado-joseph disease

neuropathy anterior spinal artery syndrome spinocerebellar ataxia type 7 non-small cell lung carcinoma

amyotrophic lateral sclerosis spinocerebellar ataxia type 3 spinocerebellar ataxia motor neuronopathy

alexander disease pemphigus vulgaris severe combined immunodeficiency lateral sclerosis

1 disease from the University of Copenhagen DISEASES database for HSPB1:

Anterior spinal artery syndrome

10/96 Novoseek 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

Charcot-Marie-Tooth Neuropathy Type 2

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 938):
(articles sorted by number of sources associating them with HSPB1)

Utopia: connect your pdf to the dynamic
world of online information

cDNA sequence of a human heat shock protein HSP27. (PubMed id 2243808)^{1, 2, 3} Carper S.W.... Storm F.K. (1990)
Small heat shock protein 27 (HSP27) associates with tubulin/microtubules in HeLa cells. (PubMed id 10777697)^{1, 2, 9} Hino M.... Hosoya H. (2000)
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)
[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)
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)
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)
HSPB7 is a SC35 speckle resident small heat shock pro tein. (PubMed id 19464326)^{1, 2} Vos M.J....Kampinga H.H. (2009)
Transcriptomic and proteomic analyses of rhabdomyosarcoma cells reveal differential cellular gene expression in response to enterovirus 71 infection. (PubMed id 16548883)^{1, 2} Leong W.F. and Chow V.T. (2006)
A probability-based approach for high-throughput protein phosphorylation analysis and site localization. (PubMed id 16964243)^{1, 2} Beausoleil S.A.... Gygi S.P. (2006)
Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PubMed id 17081983)^{1, 2} Olsen J.V....Mann M. (2006)

(in PubMed, OMIM, and NCBI Bookshelf)
About This Section

		AND	OR
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

Name	Description
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 db	http://www.molgen.ua.ac.be/CMTMutations/
GeneReviews	http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/HSPB1
NIEHS SNPs	http://egp.gs.washington.edu/data/hspb1/

Intellectual Property for HSPB1 gene
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Patent Information for HSPB1 gene:
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GeneCards and IP:
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heat shock 27kDa protein 1

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HSPB1 Gene

heat shock 27kDa protein 1

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