SBF1

Protein-coding gene in the species Homo sapiens
SBF1
Available structures
PDBOrtholog search: PDBe RCSB
List of PDB id codes

1V5U

Identifiers
AliasesSBF1, CMT4B3, DENND7A, MTMR5, SET binding factor 1
External IDsOMIM: 603560; MGI: 1925230; HomoloGene: 84710; GeneCards: SBF1; OMA:SBF1 - orthologs
Gene location (Human)
Chromosome 22 (human)
Chr.Chromosome 22 (human)[1]
Chromosome 22 (human)
Genomic location for SBF1
Genomic location for SBF1
Band22q13.33Start50,443,219 bp[1]
End50,483,923 bp[1]
Gene location (Mouse)
Chromosome 15 (mouse)
Chr.Chromosome 15 (mouse)[2]
Chromosome 15 (mouse)
Genomic location for SBF1
Genomic location for SBF1
Band15|15 E3Start89,172,439 bp[2]
End89,199,514 bp[2]
RNA expression pattern
Bgee
HumanMouse (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
SpeciesHumanMouse
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 MbChr 15: 89.17 – 89.2 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/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. ^ a b c GRCh38: Ensembl release 89: ENSG00000100241 – Ensembl, May 2017
  2. ^ a b c 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.
  • Overview of all the structural information available in the PDB for UniProt: Q6ZPE2 (Mouse Myotubularin-related protein 5) at the PDBe-KB.


  • v
  • t
  • e
  • 1v5u: Solution Structure of the C-terminal Pleckstrin Homology Domain of Sbf1 from Mouse
    1v5u: Solution Structure of the C-terminal Pleckstrin Homology Domain of Sbf1 from Mouse


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