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 1.6e-05
medulloblastoma, large-cell -1.300 9.1e-04
sonic hedgehog group medulloblastoma -1.300 1.7e-05

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.
14751250 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
12754272 data provide evidence that cytoplasmic chaperones HSJ1a and HSJ1b when targeted to the endoplasmic reticulum can influence the folding and processing of rhodopsin

AA Sequence

MASYYEILDVPRSASADDIKKAYRRKALQWHPDKNPDNKEFAEKKFKEVAEAYEVLSDKHKREIYDRYGR      1 - 70
EGLTGTGTGPSRAEAGSGGPGFTFTFRSPEEVFREFFGSGDPFAELFDDLGPFSELQNRGSRHSGPFFTF     71 - 140
SSSFPGHSDFSSSSFSFSPGAGAFRSVSTSTTFVQGRRITTRRIMENGQERVEVEEDGQLKSVTINGVPD    141 - 210
DLALGLELSRREQQPSVTSRSGGTQVQQTPASCPLDSDLSEDEDLQLAMAYSLSEMEAAGKKPAGGREAQ    211 - 280
HRRQGRPKAQHQDPGLGGTQEGARGEATKRSPSPEEKASRCLIL                              281 - 324
//

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.
18321953 2008 Gene expression profiling in human skeletal muscle during recovery from eccentric exercise.
17847007 2007 Mutation in WNT10A is associated with an autosomal recessive ectodermal dysplasia: the odonto-onycho-dermal dysplasia.
17601350 2007 A genetic association analysis of cognitive ability and cognitive ageing using 325 markers for 109 genes associated with oxidative stress or cognition.
17207965 2007 hORFeome v3.1: a resource of human open reading frames representing over 10,000 human genes.
16604191 2006 Cystamine and cysteamine increase brain levels of BDNF in Huntington disease via HSJ1b and transglutaminase.
15936278 2005 HSJ1 is a neuronal shuttling factor for the sorting of chaperone clients to the proteasome.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15231748 2004 Functional proteomics mapping of a human signaling pathway.
14759258 2004 An unappreciated role for RNA surveillance.
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
12754272 2003 The chaperone environment at the cytoplasmic face of the endoplasmic reticulum can modulate rhodopsin processing and inclusion formation.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
12107410 2002 Expressed sequence tag analysis of human RPE/choroid for the NEIBank Project: over 6000 non-redundant transcripts, novel genes and splice variants.
11147971 2000 Mammalian HSP40/DNAJ homologs: cloning of novel cDNAs and a proposal for their classification and nomenclature.
10516435 1999 Assignment of the neuronal cochaperone, HSJ1, to human chromosome bands 2q32-->q34 between D2S295 and D2S339 by in situ hybridization and somatic cell and radiation hybrids.
9553041 1998 Inhibition of cellular proliferation by the Wilms tumor suppressor WT1 requires association with the inducible chaperone Hsp70.
8889548 1996 Normalization and subtraction: two approaches to facilitate gene discovery.
7957263 1994 Regulation of 70-kDa heat-shock-protein ATPase activity and substrate binding by human DnaJ-like proteins, HSJ1a and HSJ1b.
1599432 1992 Human homologues of the bacterial heat-shock protein DnaJ are preferentially expressed in neurons.