Property Summary

NCBI Gene PubMed Count 29
PubMed Score 15.52
PubTator Score 14.98

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (3)

Disease log2 FC p
malignant mesothelioma -1.200 0.000
medulloblastoma, large-cell -1.300 0.001
sonic hedgehog group medulloblastoma -1.300 0.000

Synonym

Accession P25686 A8K9P6 Q8IUK1 Q8IUK2 Q96F52
Symbols HSJ1
CMT2T
DSMA5
HSJ-1
HSPF3

Gene

PDB

2LGW  

Gene RIF (12)

PMID Text
25274842 The results of this study confirm that HSJ1 mutations are a rare but detectable cause of autosomal recessive dHMN and CMT2.
24023695 HSJ1a acts on mutant SOD1 through a combination of chaperone, co-chaperone and pro-ubiquitylation activity.
22522442 a mutation causing a loss-of-function of HSJ1 is linked to a pure lower motor neuron disease, strongly suggesting that HSJ1 also plays an important and specific role in motor neurons.
22190034 HIV-1 Vif is identified to have a physical interaction with DnaJ (Hsp40) homolog, subfamily B, member 2 (DNAJB2) in human HEK293 and/or Jurkat cell lines by using affinity tagging and purification mass spectrometry analyses
20395441 Data show that DNAJB2 is expressed in skeletal muscle at the neuromuscular junction of normal fibers, in the cytoplasm and membrane of regenerating fibers, and in protein aggregates and vacuoles in protein aggregate myopathies.
18977241 Observational study of gene-disease association. (HuGE Navigator)
18321953 Damaging exercise induced the expression of capZalpha, MCIP1, CARP1, DNAJB2, c-myc, and junD, each of which are likely involved in skeletal muscle growth, remodeling, and stress management.
17601350 Observational study of gene-disease association. (HuGE Navigator)
16604191 Cystamine and cysteamine increase brain levels of BDNF in Huntington disease via HSJ1b and transglutaminase
15936278 HSJ1 is a neuronal shuttling factor for the sorting of chaperone clients to the proteasome.
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AA Sequence

MASYYEILDVPRSASADDIKKAYRRKALQWHPDKNPDNKEFAEKKFKEVAEAYEVLSDKHKREIYDRYGR      1 - 70
EGLTGTGTGPSRAEAGSGGPGFTFTFRSPEEVFREFFGSGDPFAELFDDLGPFSELQNRGSRHSGPFFTF     71 - 140
SSSFPGHSDFSSSSFSFSPGAGAFRSVSTSTTFVQGRRITTRRIMENGQERVEVEEDGQLKSVTINGVPD    141 - 210
DLALGLELSRREQQPSVTSRSGGTQVQQTPASCPLDSDLSEDEDLQLAMAYSLSEMEAAGKKPAGGREAQ    211 - 280
HRRQGRPKAQHQDPGLGGTQEGARGEATKRSPSPEEKASRCLIL                              281 - 324
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Text Mined References (29)

PMID Year Title
25274842 2014 HSJ1-related hereditary neuropathies: novel mutations and extended clinical spectrum.
25201988 2014 Common genetic variants associated with cognitive performance identified using the proxy-phenotype method.
24627108 2014 Whole-exome sequencing in patients with inherited neuropathies: outcome and challenges.
24023695 2013 Molecular chaperone mediated late-stage neuroprotection in the SOD1(G93A) mouse model of amyotrophic lateral sclerosis.
22522442 2012 A rare recessive distal hereditary motor neuropathy with HSJ1 chaperone mutation.
22219199 2012 The C-terminal helices of heat shock protein 70 are essential for J-domain binding and ATPase activation.
21231916 2011 The diverse members of the mammalian HSP70 machine show distinct chaperone-like activities.
20889486 2011 Molecular chaperone-mediated rescue of mitophagy by a Parkin RING1 domain mutant.
20395441 2010 DNAJB2 expression in normal and diseased human and mouse skeletal muscle.
18977241 2008 Oxidative stress, telomere length and biomarkers of physical aging in a cohort aged 79 years from the 1932 Scottish Mental Survey.
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