HS1BP3

Summary

Gene Symbol: HS1BP3
Description: HCLS1 binding protein 3
Alias: ETM2, HS1-BP3, HCLS1-binding protein 3, HS1-binding protein 3, HSP1BP-3
Species: human

Top Publications

  1. ncbi Familial essential tremor with apparent autosomal dominant inheritance: should we also consider other inheritance modes?
    Shaochun Ma
    Department of Neurology, Vanderbilt University, Nashville, Tennessee, USA
    Mov Disord 21:1368-74. 2006
  2. ncbi A variant in the HS1-BP3 gene is associated with familial essential tremor
    A Shatunov
    Neurology 65:1995; author reply 1995. 2005
  3. ncbi Isolation and characterization of a novel HS1 SH3 domain binding protein, HS1BP3
    Y Takemoto
    Institute of Immunology, Syntex Roche, 2669 Yamazaki, Noda, Chiba 278, Japan
    Int Immunol 11:1957-64. 1999
  4. doi Human HS1BP3 induces cell apoptosis and activates AP-1
    Taiping Shi
    Laboratory of Medical Immunology, School of Basic Medical Science, Peking University Health Science Center, Beijing, China
    BMB Rep 44:381-6. 2011
  5. ncbi No association with the ETM2 locus in Czech patients with familial essential tremor
    Daniela Zahorakova
    Department of Pediatrics, Charles University in Prague, 1st Faculty of Medicine and General Teaching Hospital, Czech Republic
    Neuro Endocrinol Lett 31:549-52. 2010
  6. pmc DRD3 Ser9Gly and HS1BP3 Ala265Gly are not associated with Parkinson disease
    Brett H Keeling
    Department of Neuroscience, Mayo Clinic, Jacksonville, FL 32224, USA
    Neurosci Lett 461:74-5. 2009
  7. ncbi Further evidence of genetic heterogeneity in familial essential tremor
    Paolo Aridon
    Dipartimento Universitario di Neuroscienze Cliniche, University of Palermo, Italy
    Parkinsonism Relat Disord 14:15-8. 2008
  8. ncbi A family with Parkinson disease, essential tremor, bell palsy, and parkin mutations
    Hao Deng
    Department of Neurology, Baylor College of Medicine, Houston, TX 77030, USA
    Arch Neurol 64:421-4. 2007
  9. ncbi Genetics of essential tremor
    Hao Deng
    Department of Neurology, Baylor College of Medicine, Houston, TX 77030, USA
    Brain 130:1456-64. 2007
  10. ncbi HS1-BP3 gene variant is common in familial essential tremor
    Joseph J Higgins
    Center for Human Genetics and Child Neurology, Mid Hudson Family Health Institute, New Paltz, New York, USA
    Mov Disord 21:306-9. 2006

Scientific Experts

  • Joseph J Higgins
  • J Jankovic
  • Sergei N Illarioshkin
  • Taiping Shi
  • Barbara Jasinska-Myga
  • Hao Deng
  • Daniela Zahorakova
  • Brett H Keeling
  • Paolo Aridon
  • Shaochun Ma
  • H Deng
  • A Shatunov
  • Jeong Hyun Kim
  • David Kemlink
  • Jan Roth
  • Evzen Ruzicka
  • Olga Ulmanova
  • Pavel Martasek
  • Marie Kofrankova
  • Owen A Ross
  • Matthew J Farrer
  • Zbigniew K Wszolek
  • Carles Vilariño-Güell
  • Ryan J Uitti
  • Giuseppe Salemi
  • Maurizio De Fusco
  • Paolo Ragonese
  • Giorgio Casari
  • Giovanni Savettieri
  • Y Takemoto
  • Wei Dong LE
  • Nicte Mejia
  • Wen Jie Xie
  • Christine B Hunter
  • Weidong Le
  • Peter Hedera
  • Thomas L Davis
  • Yuki Bradford
  • Marcia A Blair
  • Jonathan L Haines
  • John Y Fang
  • M S Huang
  • W J Xie
  • Yoon Hee Cho
  • Jin Woo Chang
  • W D Le
  • L Goldfarb
  • Yong Gou Park
  • Jeong Kook Kim
  • N Sambuughin
  • A Singleton
  • Y Guo
  • M Hallett
  • R Elble
  • M Kubo
  • M Sato
  • Y Hashimoto
  • M Furuta

Detail Information

Publications19

  1. ncbi Familial essential tremor with apparent autosomal dominant inheritance: should we also consider other inheritance modes?
    Shaochun Ma
    Department of Neurology, Vanderbilt University, Nashville, Tennessee, USA
    Mov Disord 21:1368-74. 2006
    ..ET may have a complex etiology. Additional genetic models need to be considered, including an interaction of susceptibility genes and environmental risk factors...
  2. ncbi A variant in the HS1-BP3 gene is associated with familial essential tremor
    A Shatunov
    Neurology 65:1995; author reply 1995. 2005
  3. ncbi Isolation and characterization of a novel HS1 SH3 domain binding protein, HS1BP3
    Y Takemoto
    Institute of Immunology, Syntex Roche, 2669 Yamazaki, Noda, Chiba 278, Japan
    Int Immunol 11:1957-64. 1999
    We have isolated a novel gene, HS1BP3, which encodes an HS1 binding protein...
  4. doi Human HS1BP3 induces cell apoptosis and activates AP-1
    Taiping Shi
    Laboratory of Medical Immunology, School of Basic Medical Science, Peking University Health Science Center, Beijing, China
    BMB Rep 44:381-6. 2011
    In the present study, we characterized the function of HS1-binding protein 3 (HS1BP3), which is mutated in essential tremor and may be involved in lymphocyte activation...
  5. ncbi No association with the ETM2 locus in Czech patients with familial essential tremor
    Daniela Zahorakova
    Department of Pediatrics, Charles University in Prague, 1st Faculty of Medicine and General Teaching Hospital, Czech Republic
    Neuro Endocrinol Lett 31:549-52. 2010
    ..However, several candidate loci have been reported, including the ETM2 locus that was originally found in a large American family of Czech descent.
  6. pmc DRD3 Ser9Gly and HS1BP3 Ala265Gly are not associated with Parkinson disease
    Brett H Keeling
    Department of Neuroscience, Mayo Clinic, Jacksonville, FL 32224, USA
    Neurosci Lett 461:74-5. 2009
    Variants in the dopamine receptor D3 (DRD3) and HCLS1 binding protein 3 (HS1BP3) have been nominated as risk factors for essential tremor (ET)...
  7. ncbi Further evidence of genetic heterogeneity in familial essential tremor
    Paolo Aridon
    Dipartimento Universitario di Neuroscienze Cliniche, University of Palermo, Italy
    Parkinsonism Relat Disord 14:15-8. 2008
    ..To date, linkage analyses revealed three loci associated to essential tremor (ET) (ETM1 on 3q13, ETM2 on 2p22-25, and a locus on 6p23)...
  8. ncbi A family with Parkinson disease, essential tremor, bell palsy, and parkin mutations
    Hao Deng
    Department of Neurology, Baylor College of Medicine, Houston, TX 77030, USA
    Arch Neurol 64:421-4. 2007
    Mutations in the parkin gene cause autosomal recessive early-onset Parkinson disease (EOPD). The A265G variant in the HS1 binding protein 3 gene (HS1BP3) is common in essential tremor (ET).
  9. ncbi Genetics of essential tremor
    Hao Deng
    Department of Neurology, Baylor College of Medicine, Houston, TX 77030, USA
    Brain 130:1456-64. 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...
  10. ncbi HS1-BP3 gene variant is common in familial essential tremor
    Joseph J Higgins
    Center for Human Genetics and Child Neurology, Mid Hudson Family Health Institute, New Paltz, New York, USA
    Mov Disord 21:306-9. 2006
    ..The HS1-BP3 gene plays a putative role in regulating catecholamine and serotonin metabolism, but the functional consequences of the amino acid substitution (A265G) caused by this genetic variant is unknown...
  11. ncbi Extended study of A265G variant of HS1BP3 in essential tremor and Parkinson disease
    H Deng
    Department of Neurology, Baylor College of Medicine, Houston, TX 77030, USA
    Neurology 65:651-2. 2005
  12. ncbi Frequent sequence variation at the ETM2 locus and its association with sporadic essential tremor in Korea
    Jeong Hyun Kim
    School of Life Sciences and Biotechnology, Korea University, Seoul, Korea
    Mov Disord 20:1650-3. 2005
    ..Although two susceptibility loci were identified on chromosome 2p24 (ETM2) and 3q13 (ETM1 or FET1), the exact transcript(s) has not been cloned...
  13. pmc Genetic mouse models of essential tremor: are they essential?
    Joseph Jankovic
    Department of Neurology, Baylor College of Medicine, Houston, Texas 77030, USA
    J Clin Invest 115:584-6. 2005
    ....
  14. pmc A variant in the HS1-BP3 gene is associated with familial essential tremor
    J J Higgins
    Center for Human Genetics and Child Neurology, Mid Hudson Family Health Institute, 279 Main St, Suite 203A, New Paltz, NY 12561, USA
    Neurology 64:417-21. 2005
    ..1 (etm2)...
  15. ncbi Haplotype analysis at the ETM2 locus in a Singaporean sample with familial essential tremor
    J J Higgins
    Center for Human Genetics and Child Neurology, Mid Hudson Family Health Institute, New Paltz, NY 12561, USA
    Clin Genet 66:353-7. 2004
    ..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 ..
  16. ncbi Integrated physical map of the human essential tremor gene region (ETM2) on chromosome 2p24.3-p24.2
    Joseph J Higgins
    Center for Human Genetics and Child Neurology, Mid Hudson Family Health Institute, New Paltz, New York 12561, USA
    Am J Med Genet B Neuropsychiatr Genet 127:128-30. 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...
  17. ncbi Haplotype analysis of the ETM2 locus in familial essential tremor
    Joseph J Higgins
    Center for Human Genetics and Child Neurology, Mid Hudson Family Health Institute, 279 Main Street, Suite 203A, New Paltz, NY 12561, USA
    Neurogenetics 4:185-9. 2003
    ..with autosomal dominant essential tremor (ET) for a genetic association with loci in a candidate region (ETM2) on chromosome 2p24.1 that harbors a disease gene for ET...
  18. ncbi [Molecular genetic analysis of essential tremor]
    S N Illarioshkin
    Research Institute of Neurology, Russian Academy of Medical Sciences, Moscow, 125367 Russia
    Genetika 38:1704-9. 2002
    ..and is genetically heterogeneous: distinct variants of ET were mapped to chromosomes 3q13 (ETM1) and 2p22-25 (ETM2)...
  19. doi Genetics of essential tremor
    Barbara Jasinska-Myga
    Department of Neurology, Medical University of Silesia, Katowice, Poland
    Parkinsonism Relat Disord 18:S138-9. 2012
    ..replicated in candidate genes within these loci, including dopamine D3 receptor (DRD3) and HS1-binding protein 3 (HS1BP3)...