SBF1

SBF1

Available structures

Ortholog search: PDBe RCSB

List of PDB id codes
1V5U

Identifiers

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]
Band	22q13.33	End	50,483,923 bp^[1]

Gene location (Mouse)

Chr.	Chromosome 15 (mouse)^[2]

Band	15\|15 E3	Start	89,172,439 bp^[2]
Band	15\|15 E3	End	89,199,514 bp^[2]

RNA expression pattern

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


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

Species

Human

Mouse


6305


77980


ENSG00000100241


ENSMUSG00000036529


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]

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

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000100241 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000036529 – Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ 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.
^ 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.
^ "Entrez Gene: SBF1 SET binding factor 1".
^ 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.
^ 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.

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

This article on a gene on human chromosome 22 is a stub. You can help Wikipedia by expanding it.

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