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Aliases for SBF1 Gene

Aliases for SBF1 Gene

  • SET Binding Factor 1 2 3
  • MTMR5 3 4 6
  • DENN/MADD Domain Containing 7A 2 3
  • SET-Binding Factor 1 3 4
  • CMT4B3 3 6
  • Myotubularin-Related Protein 5 3
  • Myotubularin Related 5 2
  • DENND7A 3
  • Sbf1 4

External Ids for SBF1 Gene

Summaries for SBF1 Gene

Entrez Gene Summary for SBF1 Gene

  • This gene encodes a member of the protein-tyrosine phosphatase family. However, the encoded protein does not appear to be a catalytically active phosphatase because it lacks several amino acids in the catalytic pocket. This protein contains a Guanine nucleotide exchange factor (GEF) domain which is necessary for its role in growth and differentiation. Mutations in this gene have been associated with Charcot-Marie-Tooth disease 4B3. Pseudogenes of this gene have been defined on chromosomes 1 and 8. [provided by RefSeq, Dec 2014]

GeneCards Summary for SBF1 Gene

SBF1 (SET Binding Factor 1) is a Protein Coding gene. Diseases associated with SBF1 include charcot-marie-tooth disease, type 4b3 and early-onset glaucoma. GO annotations related to this gene include phospholipid binding and Rab guanyl-nucleotide exchange factor activity. An important paralog of this gene is MTMR2.

UniProtKB/Swiss-Prot for SBF1 Gene

  • Probable pseudophosphatase. Lacks several amino acids in the catalytic pocket which renders it catalytically inactive as a phosphatase. The pocket is however sufficiently preserved to bind phosphorylated substrates, and maybe protect them from phosphatases. Inhibits myoblast differentiation in vitro and induces oncogenic transformation in fibroblasts. According to PubMed:20937701, may function as a guanine nucleotide exchange factor (GEF) activating RAB28. Promotes the exchange of GDP to GTP, converting inactive GDP-bound Rab proteins into their active GTP-bound form.

Gene Wiki entry for SBF1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SBF1 Gene

Genomics for SBF1 Gene

Genomic Location for SBF1 Gene

Start:
50,445,000 bp from pter
End:
50,475,038 bp from pter
Size:
30,039 bases
Orientation:
Minus strand

Genomic View for SBF1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for SBF1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SBF1 Gene

Regulatory Elements for SBF1 Gene

Proteins for SBF1 Gene

  • Protein details for SBF1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O95248-MTMR5_HUMAN
    Recommended name:
    Myotubularin-related protein 5
    Protein Accession:
    O95248
    Secondary Accessions:
    • A6PVG9
    • O60228
    • Q5JXD8
    • Q5PPM2
    • Q96GR9
    • Q9UGB8

    Protein attributes for SBF1 Gene

    Size:
    1867 amino acids
    Molecular mass:
    208315 Da
    Quaternary structure:
    • Interacts with the SET domain of KMT2A/MLL1. Interacts with SUV39H1.
    SequenceCaution:
    • Sequence=AAC39675.1; Type=Frameshift; Positions=1603, 1627, 1631, 1864; Evidence={ECO:0000305};

    Alternative splice isoforms for SBF1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SBF1 Gene

Proteomics data for SBF1 Gene at MOPED

Post-translational modifications for SBF1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for SBF1 Gene

No data available for DME Specific Peptides for SBF1 Gene

Domains for SBF1 Gene

Gene Families for SBF1 Gene

HGNC:
  • PLEKH :Pleckstrin homology (PH) domain containing
  • DENND :DENN/MADD domain containing
  • DUSPM :Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins

UniProtKB/Swiss-Prot:

MTMR5_HUMAN
Domain:
  • Contains 1 dDENN domain.:
    • O95248
  • Contains 1 DENN domain.:
    • O95248
  • Contains 1 GRAM domain.:
    • O95248
  • Contains 1 myotubularin phosphatase domain.:
    • O95248
  • Contains 1 PH domain.:
    • O95248
  • Contains 1 uDENN domain.:
    • O95248
Family:
  • Belongs to the protein-tyrosine phosphatase family. Non-receptor class myotubularin subfamily.:
    • O95248
genes like me logo Genes that share domains with SBF1: view

Function for SBF1 Gene

Molecular function for SBF1 Gene

GENATLAS Biochemistry: SET binding factor 1,expressed in skeletal muscle,heart,placenta,brain,liver and pancreas
UniProtKB/Swiss-Prot Function: Probable pseudophosphatase. Lacks several amino acids in the catalytic pocket which renders it catalytically inactive as a phosphatase. The pocket is however sufficiently preserved to bind phosphorylated substrates, and maybe protect them from phosphatases. Inhibits myoblast differentiation in vitro and induces oncogenic transformation in fibroblasts. According to PubMed:20937701, may function as a guanine nucleotide exchange factor (GEF) activating RAB28. Promotes the exchange of GDP to GTP, converting inactive GDP-bound Rab proteins into their active GTP-bound form.

Gene Ontology (GO) - Molecular Function for SBF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008138 protein tyrosine/serine/threonine phosphatase activity TAS 9736772
GO:0016791 phosphatase activity --
GO:0017112 Rab guanyl-nucleotide exchange factor activity IDA 20937701
GO:0019208 phosphatase regulator activity IEA --
genes like me logo Genes that share ontologies with SBF1: view

Phenotypes for SBF1 Gene

genes like me logo Genes that share phenotypes with SBF1: view

Animal Models for SBF1 Gene

MGI Knock Outs for SBF1:

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting and HOMER Transcription for SBF1 Gene

Localization for SBF1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SBF1 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for SBF1 Gene COMPARTMENTS Subcellular localization image for SBF1 gene
Compartment Confidence
nucleus 5
cytosol 3
extracellular 1
lysosome 1
mitochondrion 1

Gene Ontology (GO) - Cellular Components for SBF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0016021 integral component of membrane TAS 9736772
genes like me logo Genes that share ontologies with SBF1: view

Pathways for SBF1 Gene

SuperPathways for SBF1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for SBF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006470 protein dephosphorylation TAS 9736772
GO:0007283 spermatogenesis IEA --
GO:0008219 cell death --
GO:0016311 dephosphorylation --
GO:0043547 positive regulation of GTPase activity IEA --
genes like me logo Genes that share ontologies with SBF1: view

No data available for Pathways by source for SBF1 Gene

Transcripts for SBF1 Gene

Unigene Clusters for SBF1 Gene

SET binding factor 1:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for SBF1 Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6 ^ 7a · 7b ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21 ^ 22 ^
SP1: -
SP2:
SP3: -
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:

ExUns: 23 ^ 24 ^ 25 ^ 26 ^ 27 ^ 28 ^ 29 ^ 30a · 30b ^ 31a · 31b ^ 32a · 32b ^ 33a · 33b · 33c ^ 34 ^ 35a · 35b · 35c ^ 36a · 36b · 36c ^ 37 ^ 38 ^ 39 ^
SP1: - -
SP2: - - -
SP3:
SP4: - -
SP5: - -
SP6: -
SP7:
SP8:
SP9:
SP10: -

ExUns: 40 ^ 41a · 41b
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:

Relevant External Links for SBF1 Gene

GeneLoc Exon Structure for
SBF1
ECgene alternative splicing isoforms for
SBF1

Expression for SBF1 Gene

mRNA expression in normal human tissues for SBF1 Gene

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for SBF1 Gene

SOURCE GeneReport for Unigene cluster for SBF1 Gene Hs.589924

genes like me logo Genes that share expressions with SBF1: view

Orthologs for SBF1 Gene

This gene was present in the common ancestor of animals.

Orthologs for SBF1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SBF1 36
  • 99.31 (n)
  • 99.58 (a)
SBF1 37
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia SBF1 36
  • 87.67 (n)
  • 93.36 (a)
SBF1 37
  • 93 (a)
OneToOne
dog
(Canis familiaris)
Mammalia -- 37
  • 92 (a)
OneToMany
-- 37
  • 86 (a)
OneToMany
SBF1 36
  • 89.23 (n)
  • 94.86 (a)
mouse
(Mus musculus)
Mammalia Sbf1 36
  • 87.29 (n)
  • 94.77 (a)
Sbf1 16
Sbf1 37
  • 95 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia SBF1 37
  • 89 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 37
  • 55 (a)
ManyToMany
rat
(Rattus norvegicus)
Mammalia Sbf1 36
  • 87.66 (n)
  • 95.03 (a)
chicken
(Gallus gallus)
Aves SBF1 36
  • 76.68 (n)
  • 76.98 (a)
SBF1 37
  • 72 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SBF1 37
  • 75 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia sbf1 36
  • 66.79 (n)
  • 73.14 (a)
zebrafish
(Danio rerio)
Actinopterygii sbf1 36
  • 70.48 (n)
  • 72.55 (a)
sbf1 37
  • 72 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta Sbf 37
  • 40 (a)
OneToMany
Sbf 38
  • 38 (a)
worm
(Caenorhabditis elegans)
Secernentea mtm-5 37
  • 25 (a)
OneToMany
H28G03.6 38
  • 26 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.3355 37
  • 38 (a)
OneToMany
Species with no ortholog for SBF1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for SBF1 Gene

ENSEMBL:
Gene Tree for SBF1 (if available)
TreeFam:
Gene Tree for SBF1 (if available)

Paralogs for SBF1 Gene

Selected SIMAP similar genes for SBF1 Gene using alignment to 5 proteins:

Pseudogenes.org Pseudogenes for SBF1 Gene

genes like me logo Genes that share paralogs with SBF1: view

Variants for SBF1 Gene

Sequence variations from dbSNP and Humsavar for SBF1 Gene

SNP ID Clin Chr 22 pos Sequence Context AA Info Type MAF
rs8889 -- 50,448,243(-) CAGAG(A/G)GTGAG reference, missense
rs738683 -- 50,472,446(+) AGAGG(A/G)TCCTC intron-variant
rs743038 -- 50,445,646(-) TGACC(A/G)AAGTT utr-variant-3-prime
rs743039 -- 50,461,632(+) CCCTC(C/T)TCACG synonymous-codon, reference
rs1053744 -- 50,447,346(-) AAGAC(C/T)GTGGA synonymous-codon, reference

Structural Variations from Database of Genomic Variants (DGV) for SBF1 Gene

Variant ID Type Subtype PubMed ID
nsv915495 CNV Loss 21882294
nsv914525 CNV Loss 21882294
dgv5062n71 CNV Loss 21882294
nsv834238 CNV Loss 17160897
dgv5063n71 CNV Loss 21882294
nsv914541 CNV Loss 21882294
nsv471224 CNV Loss 18288195
nsv914542 CNV Loss 21882294
nsv914543 CNV Loss 21882294
nsv829338 CNV Gain 20364138
nsv914544 CNV Loss 21882294

Relevant External Links for SBF1 Gene

HapMap Linkage Disequilibrium report
SBF1
Human Gene Mutation Database (HGMD)
SBF1

Disorders for SBF1 Gene

(1) OMIM Diseases for SBF1 Gene (603560)

UniProtKB/Swiss-Prot

MTMR5_HUMAN
  • Charcot-Marie-Tooth disease 4B3 (CMT4B3) [MIM:615284]: A recessive demyelinating form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies (CMT2). Demyelinating neuropathies are characterized by severely reduced nerve conduction velocities (less than 38 m/sec), segmental demyelination and remyelination with onion bulb formations on nerve biopsy, slowly progressive distal muscle atrophy and weakness, absent deep tendon reflexes, and hollow feet. By convention autosomal recessive forms of demyelinating Charcot-Marie-Tooth disease are designated CMT4. {ECO:0000269 PubMed:23749797}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(1) University of Copenhagen DISEASES for SBF1 Gene

(2) Novoseek inferred disease relationships for SBF1 Gene

Disease -log(P) Hits PubMed IDs
centronuclear myopathy 90.4 1
myopathy 47.9 1

Relevant External Links for SBF1

Genetic Association Database (GAD)
SBF1
Human Genome Epidemiology (HuGE) Navigator
SBF1
genes like me logo Genes that share disorders with SBF1: view

Publications for SBF1 Gene

  1. Association of SET domain and myotubularin-related proteins modulates growth control. (PMID: 9537414) Cui X. … Cleary M.L. (Nat. Genet. 1998) 2 3 4 23
  2. Characterization of the myotubularin dual specificity phosphatase gene family from yeast to human. (PMID: 9736772) Laporte J. … Mandel J.-L. (Hum. Mol. Genet. 1998) 2 3 4
  3. The DNA sequence of human chromosome 22. (PMID: 10591208) Dunham I. … Wright H. (Nature 1999) 3 4
  4. Set domain-dependent regulation of transcriptional silencing and growth control by SUV39H1, a mammalian ortholog of Drosophila Su(var)3-9. (PMID: 10848615) Firestein R. … Cleary M.L. (Mol. Cell. Biol. 2000) 3 4
  5. Identification of potentially damaging amino acid substitutions leading to human male infertility. (PMID: 19369647) Kuzmin A. … Varmuza S. (Biol. Reprod. 2009) 3 49

Products for SBF1 Gene

Sources for SBF1 Gene

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