DNAJB6

DNAJB6
Identifiers
Aliases	DNAJB6, Dnajb6, Mrj, mDj4, DJ4, DnaJ, HHDJ1, HSJ-2, HSJ2, LGMD1D, LGMD1E, MSJ-1, DnaJ heat shock protein family (Hsp40) member B6, LGMDD1
External IDs	OMIM: 611332; MGI: 1344381; HomoloGene: 38058; GeneCards: DNAJB6; OMA:DNAJB6 - orthologs
Gene location (Human)
Chr.	Chromosome 7 (human)
End	157,417,439 bp
Gene location (Mouse)
Chr.	Chromosome 5 (mouse)
End	30,023,132 bp
RNA expression pattern
	Top expressed in
	gonad; ; ganglionic eminence; ; gastrocnemius muscle; ; skin of abdomen; ; muscle of thigh; ; skin of leg; ; C1 segment; ; popliteal artery; ; tibial arteries; ; ventricular zone;
	Top expressed in
	zygote; ; spermatocyte; ; spermatid; ; morula; ; neural layer of retina; ; primary visual cortex; ; superior frontal gyrus; ; dentate gyrus of hippocampal formation granule cell; ; seminiferous tubule; ; muscle of thigh;
	More reference expression data
	; ;
	More reference expression data
Gene ontology
Molecular function	chaperone binding; heat shock protein binding; unfolded protein binding; protein binding; ATPase activator activity; identical protein binding; DNA binding;
Cellular component	cytoplasm; cytosol; membrane; nucleoplasm; Z discdkac; perinuclear region of cytoplasm; nucleus;
Biological process	intermediate filament organization; negative regulation of cysteine-type endopeptidase activity involved in apoptotic process; negative regulation of inclusion body assembly; regulation of protein localization; protein folding; regulation of cellular response to heat; positive regulation of ATP-dependent activity; actin cytoskeleton organization; extracellular matrix organization; protein localization to nucleus; negative regulation of transcription, DNA-templated; chorio-allantoic fusion; syncytiotrophoblast cell differentiation involved in labyrinthine layer development; chorion development;
	Sources:Amigo / QuickGO
Orthologs
	10049
	23950
	ENSG00000105993
	ENSMUSG00000029131
	O75190
	O54946
	NM_005494; NM_058246; NM_001363676
NM_001037940; NM_001037941; NM_001127367; NM_011847; NM_001359198;
	NM_001378835
	NP_005485; NP_490647; NP_001350605
NP_001033029; NP_001033030; NP_001120839; NP_035977; NP_001346127;
	NP_001365764
	Wikidata
View/Edit Human	View/Edit Mouse

DnaJ homolog subfamily B member 6 is a protein that in humans is encoded by the DNAJB6 gene.

^[5]^[6]^[7]

Function

This gene encodes a member of the DNAJ protein family. DNAJ family members are characterized by a highly conserved amino acid stretch called the 'J-domain' and function as one of the two major classes of molecular chaperones involved in a wide range of cellular events, such as protein folding and oligomeric protein complex assembly. This family member may also play a role in polyglutamine aggregation in specific neurons. Alternative splicing of this gene results in multiple transcript variants; however, not all variants have been fully described.^[7]

Interactions

DNAJB6 has been shown to interact with keratin 18.^[8] It has been also shown that the aggregation of Aβ42 (a process involved in e.g. Alzheimer's disease) is retarded by DNAJB6 in a concentration-dependent manner, extending to very low sub-stoichiometric molar ratios of chaperone to peptide.^[9] Dominant mutations in DNAJB6 have also been found to cause a late-onset muscle disease termed limb-girdle muscular dystrophy type D1 (LGMDD1), which is characterized by protein aggregation and vacuolar myopathology.^[10]