Gene Symbol: SBF1
Description: SET binding factor 1
Alias: CMT4B3, DENND7A, MTMR5, myotubularin-related protein 5, DENN/MADD domain containing 7A
Species: human
Products:     SBF1

Top Publications

  1. Denomme M, McCallie B, Parks J, Booher K, Schoolcraft W, Katz Jaffe M. Inheritance of epigenetic dysregulation from male factor infertility has a direct impact on reproductive potential. Fertil Steril. 2018;110:419-428.e1 pubmed publisher
    ..Validation of the genome-wide approaches was performed for SBF1 and SLC6A9 (P<.05)...
  2. Baets J, De Jonghe P, Timmerman V. Recent advances in Charcot-Marie-Tooth disease. Curr Opin Neurol. 2014;27:532-40 pubmed publisher
    ..genes have been recently identified, further enlarging the genetic diversity and phenotypic variability, including: SBF1, DHTKD1, TFG, MARS, HARS, HINT1, TRIM1, AIFM1, PDK3 and GNB4...
  3. Seoane S, Montero J, Ocaña A, Pandiella A. Breast cancer dissemination promoted by a neuregulin-collagenase 3 signalling node. Oncogene. 2016;35:2756-65 pubmed publisher
    ..ERK1/2 increased collagenase 3 expression by controlling the activity of an SBF1-related transcription factor. In conclusion, we describe a pathway linked to breast cancer dissemination...
  4. Liska F, Chylíková B, Janků M, Seda O, Vernerova Z, Pravenec M, et al. Splicing mutation in Sbf1 causes nonsyndromic male infertility in the rat. Reproduction. 2016;152:215-23 pubmed publisher
    ..Sequencing of candidate genes revealed a G to A substitution in a canonical 'AG' splice site of intron 37 in Sbf1 (SET binding factor 1, alias myotubularin-related protein 5)...
  5. Zhu M, Ji S, Zhang C, Cui L, Xiong L, Zheng H. DNA microarray reveals ZNF195 and SBF1 are potential biomarkers for gemcitabine sensitivity in head and neck squamous cell carcinoma cell lines. Int J Clin Exp Pathol. 2014;7:1514-23 pubmed
    ..responsible for gemcitabine sensitivity were validated by qPCR in these 10 HNSCC cell lines, while only two genes (SBF1 and ZNF195) were expression-correlated to gemcitabine response...
  6. Cui X, De Vivo I, Slany R, Miyamoto A, Firestein R, Cleary M. Association of SET domain and myotubularin-related proteins modulates growth control. Nat Genet. 1998;18:331-7 pubmed
    ..include myotubularin, the gene of which is mutated in a subset of patients with X-linked myotubular myopathy, and Sbf1, a newly isolated homologue of myotubularin...
  7. Nakhro K, Park J, Hong Y, Park J, NAM S, Yoon B, et al. SET binding factor 1 (SBF1) mutation causes Charcot-Marie-Tooth disease type 4B3. Neurology. 2013;81:165-73 pubmed publisher
    ..that the compound heterozygous mutations in SBF1 are the underlying causes of a novel CMT4B subtype, designated as CMT4B3. We believe that this study will lead to mechanistic studies to discover the function of SBF1 and to the ..
  8. Dohrn M, Glöckle N, Mulahasanovic L, Heller C, Mohr J, Bauer C, et al. Frequent genes in rare diseases: panel-based next generation sequencing to disclose causal mutations in hereditary neuropathies. J Neurochem. 2017;143:507-522 pubmed publisher
    ..NDRG1, TTR, EGR2, FIG4, GDAP1, LMNA, LRSAM1, POLG, TRPV4, AARS, BIC2, DHTKD1, FGD4, HK1, INF2, KIF5A, PDK3, REEP1, SBF1, SBF2, SCN9A, and SPTLC2 with a declining frequency...
  9. Alazami A, Alzahrani F, Bohlega S, Alkuraya F. SET binding factor 1 (SBF1) mutation causes Charcot-Marie-tooth disease type 4B3. Neurology. 2014;82:1665-6 pubmed publisher

More Information


  1. Kuzmin A, Jarvi K, Lo K, Spencer L, Chow G, Macleod G, et al. Identification of potentially damaging amino acid substitutions leading to human male infertility. Biol Reprod. 2009;81:319-26 pubmed publisher
    ..Eight SNPs in SBF1, three SNPs in LIMK2, two SNPs in LIPE, and one SNP in TBPL1 were identified...
  2. Kim S, Vacratsis P, Firestein R, Cleary M, Dixon J. Regulation of myotubularin-related (MTMR)2 phosphatidylinositol phosphatase by MTMR5, a catalytically inactive phosphatase. Proc Natl Acad Sci U S A. 2003;100:4492-7 pubmed
    ..The interacting protein was shown by mass spectrometry to be MTMR5, a catalytically inactive member of the MTM family...
  3. Firestein R, Nagy P, Daly M, Huie P, Conti M, Cleary M. Male infertility, impaired spermatogenesis, and azoospermia in mice deficient for the pseudophosphatase Sbf1. J Clin Invest. 2002;109:1165-72 pubmed
    ..We demonstrate here that Sbf1, a pseudophosphatase of the myotubularin family, is expressed at high levels in seminiferous tubules of the testis, ..
  4. Firestein R, Cui X, Huie P, Cleary M. Set domain-dependent regulation of transcriptional silencing and growth control by SUV39H1, a mammalian ortholog of Drosophila Su(var)3-9. Mol Cell Biol. 2000;20:4900-9 pubmed
    ..of SUV39H1 to form nuclear bodies and silence transcription are antagonized by the oncogenic antiphosphatase Sbf1 that when hyperexpressed interacts with the SET domain and stabilizes the phosphorylated form of SUV39H1...
  5. Laporte J, Blondeau F, Buj Bello A, Tentler D, Kretz C, Dahl N, et al. Characterization of the myotubularin dual specificity phosphatase gene family from yeast to human. Hum Mol Genet. 1998;7:1703-12 pubmed
    ..Comparison of the various genes allowed construction of a phylogenetic tree and reveals conserved residues which may be essential for function. These genes may be good candidates for other genetic diseases. ..
  6. Lorenzo O, Urbé S, Clague M. Systematic analysis of myotubularins: heteromeric interactions, subcellular localisation and endosome related functions. J Cell Sci. 2006;119:2953-9 pubmed
    ..Despite this, only MTMR4 exerts any effect on EGF receptor trafficking and degradation, which is more pronounced with a phosphatase inactive form of MTMR4 and requires an intact FYVE domain. ..
  7. Firestein R, Cleary M. Pseudo-phosphatase Sbf1 contains an N-terminal GEF homology domain that modulates its growth regulatory properties. J Cell Sci. 2001;114:2921-7 pubmed
    b>Sbf1 (SET binding factor 1) is a pseudo-phosphatase related to the myotubularin family of dual specificity phosphatases, some of which have been implicated in cellular growth and differentiation by virtue of their mutation in human ..
  8. Manole A, Horga A, Gamez J, Raguer N, Salvado M, San Millán B, et al. SBF1 mutations associated with autosomal recessive axonal neuropathy with cranial nerve involvement. Neurogenetics. 2017;18:63-67 pubmed publisher
    ..mutations in the SBF1 gene have been identified in one family with demyelinating Charcot-Marie-Tooth disease (CMT4B3) and two families with axonal neuropathy and additional neurological and skeletal features...