SBF1

Myotubularin-related protein 5 is a protein that in humans is encoded by the SBF1 gene.[5][6][7]

SBF1
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 1V5U
Identifiers
Aliases	SBF1, CMT4B3, DENND7A, MTMR5, SET binding factor 1
External IDs	OMIM: 603560 MGI: 1925230 HomoloGene: 84710 GeneCards: SBF1
Gene location (Human) Chr. Chromosome 22 (human)[1] Band 22q13.33 Start 50,445,000 bp[1] End 50,475,035 bp[1]
Gene location (Mouse) Chr. Chromosome 15 (mouse)[2] Band 15|15 E3 Start 89,288,236 bp[2] End 89,315,311 bp[2]
RNA expression pattern More reference expression data
Gene ontology Molecular function • phosphatase regulator activity • protein tyrosine/serine/threonine phosphatase activity • guanyl-nucleotide exchange factor activity • Rab guanyl-nucleotide exchange factor activity • phosphatase activity Cellular component • integral component of membrane • cell nucleus • cytosol • endoplasmic reticulum membrane • cytoplasm • nuclear body • perinuclear region of cytoplasm Biological process • GO:0043087, GO:0032313, GO:0032319, GO:0032314, GO:0043088 regulation of GTPase activity • protein dephosphorylation • spermatogenesis • phosphatidylinositol biosynthetic process Sources:Amigo / QuickGO
Orthologs
Species	Human	Mouse
Entrez	6305	77980
Ensembl	ENSG00000100241	ENSMUSG00000036529
UniProt	O95248	Q6ZPE2
RefSeq (mRNA)	NM_002972 NM_001365819	NM_001081030 NM_001170561 NM_030019
RefSeq (protein)	NP_002963 NP_001352748	NP_001074499 NP_001164032
Location (UCSC)	Chr 22: 50.45 – 50.48 Mb	Chr 15: 89.29 – 89.32 Mb
PubMed search	[3]	[4]
Wikidata
View/Edit Human View/Edit Mouse

Interactions

SBF1 has been shown to interact with MTMR2[8] and SUV39H1.[9]

References

1. GRCh38: Ensembl release 89: ENSG00000100241 - Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000036529 - Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. Cui X, De Vivo I, Slany R, Miyamoto A, Firestein R, Cleary ML (April 1998). "Association of SET domain and myotubularin-related proteins modulates growth control". Nat. Genet. 18 (4): 331–7. doi:10.1038/ng0498-331. PMID 9537414.
6. Laporte J, Blondeau F, Buj-Bello A, Tentler D, Kretz C, Dahl N, Mandel JL (December 1998). "Characterization of the myotubularin dual specificity phosphatase gene family from yeast to human". Hum. Mol. Genet. 7 (11): 1703–12. doi:10.1093/hmg/7.11.1703. PMID 9736772.
7. "Entrez Gene: SBF1 SET binding factor 1".
8. Kim SA, Vacratsis PO, Firestein R, Cleary ML, Dixon JE (April 2003). "Regulation of myotubularin-related (MTMR)2 phosphatidylinositol phosphatase by MTMR5, a catalytically inactive phosphatase". Proc. Natl. Acad. Sci. U.S.A. 100 (8): 4492–7. doi:10.1073/pnas.0431052100. PMC 153583. PMID 12668758.
9. Firestein R, Cui X, Huie P, Cleary ML (July 2000). "Set domain-dependent regulation of transcriptional silencing and growth control by SUV39H1, a mammalian ortholog of Drosophila Su(var)3-9". Mol. Cell. Biol. 20 (13): 4900–9. doi:10.1128/MCB.20.13.4900-4909.2000. PMC 85941. PMID 10848615.

Further reading

• Dunham I, Shimizu N, Roe BA, Chissoe S, Hunt AR, Collins JE, Bruskiewich R, Beare DM, Clamp M, Smink LJ, Ainscough R, Almeida JP, Babbage A, Bagguley C, Bailey J, Barlow K, Bates KN, Beasley O, Bird CP, Blakey S, Bridgeman AM, Buck D, Burgess J, Burrill WD, O'Brien KP (1999). "The DNA sequence of human chromosome 22". Nature. 402 (6761): 489–95. doi:10.1038/990031. PMID 10591208.
• Firestein R, Cui X, Huie P, Cleary ML (2000). "Set domain-dependent regulation of transcriptional silencing and growth control by SUV39H1, a mammalian ortholog of Drosophila Su(var)3-9". Mol. Cell. Biol. 20 (13): 4900–9. doi:10.1128/MCB.20.13.4900-4909.2000. PMC 85941. PMID 10848615.
• Firestein R, Cleary ML (2001). "Pseudo-phosphatase Sbf1 contains an N-terminal GEF homology domain that modulates its growth regulatory properties". J. Cell Sci. 114 (Pt 16): 2921–7. PMID 11686296.
• Firestein R, Nagy PL, Daly M, Huie P, Conti M, Cleary ML (2002). "Male infertility, impaired spermatogenesis, and azoospermia in mice deficient for the pseudophosphatase Sbf1". J. Clin. Invest. 109 (9): 1165–72. doi:10.1172/JCI12589. PMC 150957. PMID 11994405.
• Kim SA, Vacratsis PO, Firestein R, Cleary ML, Dixon JE (2003). "Regulation of myotubularin-related (MTMR)2 phosphatidylinositol phosphatase by MTMR5, a catalytically inactive phosphatase". Proc. Natl. Acad. Sci. U.S.A. 100 (8): 4492–7. doi:10.1073/pnas.0431052100. PMC 153583. PMID 12668758.

External links

• Overview of all the structural information available in the PDB for UniProt: Q6ZPE2 (Mouse Myotubularin-related protein 5) at the PDBe-KB.