SBF1

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; OMA:SBF1 - orthologs
Gene location (Human) Chr. Chromosome 22 (human) [1] Band 22q13.33 Start 50,443,219 bp [1] End 50,483,923 bp [1]
Gene location (Mouse) Chr. Chromosome 15 (mouse) [2] Band 15|15 E3 Start 89,172,439 bp [2] End 89,199,514 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in left testis right testis right lobe of thyroid gland left lobe of thyroid gland right hemisphere of cerebellum right frontal lobe cingulate gyrus C1 segment anterior cingulate cortex amygdala Top expressed in dentate gyrus of hippocampal formation granule cell neural layer of retina spermatocyte superior frontal gyrus ventricular zone primary visual cortex thymus granulocyte lip esophagus More reference expression data BioGPS More reference expression data
Gene ontology Molecular function phosphatase regulator activity protein tyrosine/serine/threonine phosphatase activity guanyl-nucleotide exchange factor activity phosphatase activity Cellular component integral component of membrane nucleus cytosol endoplasmic reticulum membrane cytoplasm nuclear body perinuclear region of cytoplasm Biological process 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: 50.44 – 50.48 Mb Chr 15: 89.17 – 89.2 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

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

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. S2CID   25209204.
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. Bibcode:2003PNAS..100.4492K. 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. Bibcode:1999Natur.402..489D. 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. doi:10.1242/jcs.114.16.2921. 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. Bibcode:2003PNAS..100.4492K. 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 .