gopubmed logo
find other proteinsAll proteins
GoPubMed Proteins lists recent and important papers and reviews for proteins. Page last changed on 19 Aug 2016.

HCLS1 binding protein 3

HS1-BP3, ETM2, HCLS1 binding protein 3, HS1 binding protein 3
The protein encoded by this gene shares similarity with mouse Hs1bp3, an Hcls1/Hs1-interacting protein that may be involved in lymphocyte activation. [provided by RefSeq, Jul 2008] (from NCBI)
Top mentioned proteins: AGE, POLYMERASE, Essential Tremor, LINGO-1, mineralocorticoid receptor
Papers on HS1-BP3
Genetics of essential tremor: meta-analysis and review.
Deuschl et al., Kiel, Germany. In Neurology, 2014
RESULTS: Linkage studies have shown conclusive results in a single family only for the locus ETM2 (essential tremor monogenetic locus 2, logarithm of odds score [lod] > 3.3).
Genetics of essential tremor.
Wider et al., Katowice, Poland. In Parkinsonism Relat Disord, 2012
However, no causal mutation has been replicated in candidate genes within these loci, including dopamine D3 receptor (DRD3) and HS1-binding protein 3 (HS1BP3).
Human HS1BP3 induces cell apoptosis and activates AP-1.
Ma et al., Beijing, China. In Bmb Rep, 2011
Results suggest that HS1BP3 regulates apoptosis via HS1 and stimulates AP-1-mediated transcription.
No association with the ETM2 locus in Czech patients with familial essential tremor.
Ruzicka et al., Praha, Czech Republic. In Neuro Endocrinol Lett, 2009
However, several candidate loci have been reported, including the ETM2 locus that was originally found in a large American family of Czech descent.
DRD3 Ser9Gly and HS1BP3 Ala265Gly are not associated with Parkinson disease.
Farrer et al., Jacksonville, United States. In Neurosci Lett, 2009
Results do not support a role for these DRD3 and HS1BP3 variants in PD.
Further evidence of genetic heterogeneity in familial essential tremor.
Savettieri et al., Palermo, Italy. In Parkinsonism Relat Disord, 2007
To date, linkage analyses revealed three loci associated to essential tremor (ET) (ETM1 on 3q13, ETM2 on 2p22-25, and a locus on 6p23).
Genetics of essential tremor.
Jankovic et al., Houston, United States. In Brain, 2007
Thus far, three gene loci (ETM1 on 3q13, ETM2 on 2p24.1 and a locus on 6p23) have been identified in patients and families with the disorder.
A family with Parkinson disease, essential tremor, bell palsy, and parkin mutations.
Jankovic et al., Houston, United States. In Arch Neurol, 2007
The A265G variant in the HS1 binding protein 3 gene (HS1BP3) is common in essential tremor (ET).
Familial essential tremor with apparent autosomal dominant inheritance: should we also consider other inheritance modes?
Hedera et al., Nashville, United States. In Mov Disord, 2006
Two genetic loci have been identified in autosomal dominant (AD) ET and polymorphisms in the DRD3 and HS1-BP3 genes have been proposed as the possible susceptibility factors for ET.
HS1-BP3 gene variant is common in familial essential tremor.
Verhagen et al., New York City, United States. In Mov Disord, 2006
A variant (828C-->G) in exon 7 of the hematopoietic-specific protein 1 binding protein 3 gene (HS1-BP3) on chromosome 2p recently has been found to segregate with ET in 2 families.
Frequent sequence variation at the ETM2 locus and its association with sporadic essential tremor in Korea.
Chang et al., Seoul, South Korea. In Mov Disord, 2005
Although two susceptibility loci were identified on chromosome 2p24 (ETM2) and 3q13 (ETM1 or FET1), the exact transcript(s) has not been cloned.
Extended study of A265G variant of HS1BP3 in essential tremor and Parkinson disease.
Jankovic et al., Houston, United States. In Neurology, 2005
HS1PB3 protein is mutated in essential tremor combined with Parkinson disease.
Genetic mouse models of essential tremor: are they essential?
Noebels et al., Houston, United States. In J Clin Invest, 2005
have been identified, and a missense mutation in the HS1-BP3 gene on the 2p has been suggested as the cause of the disorder in about 10% of American ET patients.
A variant in the HS1-BP3 gene is associated with familial essential tremor.
Rooney et al., United States. In Neurology, 2005
The 828C-->G mutation causes a substitution of a glycine for an alanine residue in the HS1-BP3 protein. It was found in 2 unrelated patients with familial essential tremor.
Haplotype analysis at the ETM2 locus in a Singaporean sample with familial essential tremor.
Rooney et al., United States. In Clin Genet, 2004
Six polymorphic loci (etm1240, etm1231, etm1234, APOB, etm1241, and etm1242) in a 274-kb interval within an ET gene candidate region (ETM2) were analyzed in Singaporean individuals with a family history of ET (n = 52) and compared to Singaporean controls older than age 65 (n = 49).
Integrated physical map of the human essential tremor gene region (ETM2) on chromosome 2p24.3-p24.2.
Ruszczyk et al., New York City, United States. In Am J Med Genet B Neuropsychiatr Genet, 2004
A gene for autosomal dominant familial essential tremor maps to a 9.1 cM interval flanked by loci D2S224 and D2S405 (ETM2) on human chromosome 2p24.3-p24.2.
share on facebooktweetadd +1mail to friends