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FLASH GENE

Symbol

DNAJB6

contributors: mct - updated : 04-12-2017

HGNC name	DnaJ (Hsp40) homolog, subfamily B, member 6
HGNC id	14888

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	LGMD1D limb-girdle muscular dystrophy 1D
Location	7q36.3      Physical location : 157.129.709 - 157.210.132
Synonym name	heat shock protein J2
	dnaJ homolog subfamily B member 6
	DnaJ-like 2 protein
	limb girdle muscular dystrophy 1D (autosomal dominant)
Synonym symbol(s)	MRJ, HHDJ1, HSJ-2, MSJ-1, MGC1152, MGC5201, DKFZp566D0824, MGC117297, DJ4, FLJ42837, Dnaj, MSJ1

DNA

TYPE	functioning gene
STRUCTURE	80.42 kb     10 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

N

status

provisional

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_058246 10 splicing 2494 NP_490647 36.1 326 - 2010 20522561 DNAJB6A, also called MRJ(L) can act as a nuclear protein by virtue of its nuclear localization signal and can considerably reduce the expression of several secreted proteins that promote invasion, migration, and metastasis of cancer cells inhibits Wnt/beta-catenin signaling by up-regulating DKK1, a secreted inhibitor of Wnt signaling contains a nuclear localization signal and regulates CTNNB1 signaling during breast cancer developmen NM_005494 8 splicing 1568 NP_005485 26.9 241 - 2010 20522561 DNAJB6B also called MRJ(S), DNAJB6(S) regulate keratin8/k18 organization assist in NFATc3-mediated transcriptional repression play a critical role in Huntington disease having a cytoprotective effects that may be mediated, at least in part, by the mitochondrial pathway of apoptosis

EXPRESSION

Type

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Cardiovascular heart       highly Nervous brain       predominantly Homo sapiens Reproductive male system prostate     moderately Respiratory lung       moderately Urinary kidney       highly

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Blood / Hematopoietic bone marrow       Muscular striatum skeletal

cell lineage
cell lines
fluid/secretion	sperm

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	a J domain
	a conserved G/F domain, mediating chaperone-substrate interactions in a manner that extends beyond recognition of a particular client and to a subset of client conformers

HOMOLOGY

interspecies

ortholog to murine Dnajb6

Homologene

FAMILY	DNAJ protein family
	heat-shock protein 40 (HSP40) family

CATEGORY

chaperone/stress

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,organelle,membrane
	intracellular,cytoplasm,cytosolic
	intracellular,nucleus,nucleoplasm
	intracellular,nucleus,nucleolus
text	dispersed throughout the cell during late mitosis and localized in nucleolus during interphase, confirming that the activity of DNAJC6 is regulated by its cell cycle specific expression together with its differential subcellular localization
	nuclear localization of DNAJB6 is associated with longer survival times of patients with esophageal squamous cell carcinoma

basic FUNCTION	playing a role in oligomeric protein complex assembly
	playing a role in polyglutamine aggregation in specific neurons
	having a heat shock protein activity
	might exert fundamental functions in reproduction
	implicated in diverse cellular functions including placental development and inhibition of Huntingtin mediated cytotoxicity
	with DNAJB8 are superior suppressors of aggregation and toxicity of disease-associated polyglutamine proteins
	may play a role in maintaining an epithelial phenotype, and inhibition of the Wnt/beta-catenin pathway may be one of the potential mechanisms contributing to the restriction of malignant behavior by DNAJB6
	important involvement of DNAJB6, a member of heat-shock protein 40 (HSP40) family, in negatively impacting tumor growth
	DNAJB6 and DNAJB8 protein chaperones prevent intracellular aggregation of polyglutamine peptides
	is a peptide-binding chaperone that can interact with polyQ peptides that are incompletely degraded by and released from the proteasome

CELLULAR PROCESS

protein, post translation, folding

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein	binding to PTTG
	interacting with CFTR
	interact with keratin intermediate filaments
	J domain of DNAJB6 is involved in mediating SPP1 suppression
	DNAJB6 binds HSPA8 and causes dephosphorylation of GSK3B at Ser 9 by recruiting protein phosphatase, PPP2CA
	regulatory mechanism of DNAJB6-mediated DKK1 transcriptional up-regulation that can influence EMT (epithelial-mesenchymal transition)
	interactions between PLAUR and HSPA4/DNAJB6 having functions in cell adhesion and migration that may provide more understanding of the roles in regulating cancer metastasis
	inhibits the conversion of soluble polyQ peptides into amyloid fibrils, in particular by suppressing primary nucleation
	DNAJB6 and HSPA4 cooperate to suppress SNCA aggregation

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

LGMD1D

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS