Aliases for SBF1 Gene
Aliases for SBF1 Gene
External Ids for SBF1 Gene
- HGNC: 10542
- Entrez Gene: 6305
- Ensembl: ENSG00000100241
- OMIM: 603560
- UniProtKB: O95248
Previous GeneCards Identifiers for SBF1 Gene
- GC22M047389
- GC22M049017
- GC22M049175
- GC22M050885
- GC22M033773
Summaries 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 Neuropathy, Congenital Hypomyelinating Or Amyelinating, Autosomal Recessive. Among its related pathways are Vesicle-mediated transport and RAB GEFs exchange GTP for GDP on RABs. Gene Ontology (GO) annotations related to this gene include phosphatase activity and Rab guanyl-nucleotide exchange factor activity. An important paralog of this gene is SBF2.
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.
Additional gene information for SBF1 Gene
- Monarch Initiative
- Search for SBF1 at DataMed
- Search for SBF1 at HumanCyc
No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SBF1 Gene
Genomics for SBF1 Gene
GeneHancer (GH) Regulatory Elements for SBF1 Gene
Promoters and enhancers for SBF1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data dump
GeneHancers around SBF1 on UCSC Golden Path with GeneCards custom track
- Top Transcription factor binding sites by QIAGEN in the SBF1 gene promoter:
Regulatory Element Products
Genomic Locations for SBF1 Gene
Genomic Locations for SBF1 Gene
- chr22:50,444,630-50,480,296
- (GRCh38/hg38)
- Size:
- 35,667 bases
- Orientation:
- Minus strand
- chr22:50,883,429-50,913,464
- (GRCh37/hg19)
Genomic View for SBF1 Gene
Genes around SBF1 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 22q13.33 by Ensembl
- 22q13.33 by Entrez Gene
- 22q13.33 by HGNC
SBF1 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence 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
- 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};
Protein Expression for SBF1 Gene
Post-translational modifications for SBF1 Gene
No Post-translational modifications
Other Protein References for SBF1 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- Novus Biologicals Antibodies for SBF1
- Invitrogen Antibodies for SBF1
- Search GeneTex for Antibodies for SBF1
-
Santa Cruz Biotechnology (SCBT) Antibodies for SBF1
Protein Products
- Search Origene for Purified Proteins, MassSpec and Protein Over-expression Lysates for SBF1
- Origene Custom Protein Services for SBF1
- antibodies-online: Search results for available SBF1 related products ranked by validation data
- Search GeneTex for Proteins for SBF1
Assay Products
- antibodies-online: Search results for available SBF1 related products ranked by validation data
No data available for DME Specific Peptides for SBF1 Gene
Domains & Families for SBF1 Gene
Gene Families for SBF1 Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Disease related genes
- Predicted intracellular proteins
Protein Domains for SBF1 Gene
Suggested Antigen Peptide Sequences for SBF1 Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
O95248UniProtKB/Swiss-Prot:
MTMR5_HUMAN :- Belongs to the protein-tyrosine phosphatase family. Non-receptor class myotubularin subfamily.
- Family:
-
- Belongs to the protein-tyrosine phosphatase family. Non-receptor class myotubularin subfamily.
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.
Phenotypes From GWAS Catalog for SBF1 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0008138 | protein tyrosine/serine/threonine phosphatase activity | TAS | 9736772 |
| GO:0017112 | Rab guanyl-nucleotide exchange factor activity | TAS | -- |
| GO:0019208 | phosphatase regulator activity | IEA | -- |
Phenotypes for SBF1 Gene
- MGI mutant phenotypes for SBF1:
- inferred from 1 alleles
- GenomeRNAi human phenotypes for SBF1:
Animal Models for SBF1 Gene
- MGI Knock Outs for SBF1:
-
- Sbf1 tm1Mlc
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
- Cyagen custom Knockout/knockin (KOKI) mouse models for SBF1
-
-
ViGene Biosciences lentiviral particle packaged cDNA for SBF1 gene
-
ViGene Biosciences ready-to-package AAV shRNAs for SBF1 gene
- Search ViGene Biosciences for SBF1
CRISPR Products
-
OriGene CRISPR knockouts for SBF1
- genomics-online: gRNA clones - Search results for available SBF1 gene related products
- Applied Biological Materials CRISPR for SBF1
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for SBF1
- GenScript: Design CRISPR guide RNA sequences for SBF1
miRNA for SBF1 Gene
- miRTarBase miRNAs that target SBF1
-
- hsa-mir-877-3p (MIRT037199)
- hsa-mir-744-5p (MIRT037625)
- hsa-mir-296-3p (MIRT038372)
- hsa-mir-503-5p (MIRT041127)
- hsa-mir-346 (MIRT042710)
- hsa-mir-324-3p (MIRT042986)
- hsa-mir-320a (MIRT044578)
- hsa-mir-149-5p (MIRT045439)
- hsa-mir-23b-3p (MIRT046284)
- hsa-mir-196a-5p (MIRT048226)
- hsa-mir-16-5p (MIRT051209)
- hsa-mir-30d-5p (MIRT726651)
- hsa-mir-30e-5p (MIRT726652)
- hsa-mir-30c-5p (MIRT726653)
- hsa-mir-30b-5p (MIRT726654)
- hsa-mir-30a-5p (MIRT726655)
- hsa-mir-1237-5p (MIRT736321)
- hsa-mir-125b-2-3p (MIRT736650)
- hsa-mir-1296-3p (MIRT737219)
- hsa-mir-185-3p (MIRT738219)
- hsa-mir-1908-5p (MIRT738329)
- hsa-mir-2110 (MIRT738915)
- hsa-mir-302a-3p (MIRT739634)
- hsa-mir-302b-3p (MIRT739644)
- hsa-mir-302c-3p (MIRT739655)
- hsa-mir-302d-3p (MIRT739664)
- hsa-mir-302e (MIRT739672)
- hsa-mir-3180-3p (MIRT740787)
- hsa-mir-3180 (MIRT740827)
- hsa-mir-3191-3p (MIRT740991)
- hsa-mir-3196 (MIRT741085)
- hsa-mir-329-3p (MIRT741311)
- hsa-mir-362-3p (MIRT741783)
- hsa-mir-3714 (MIRT742570)
- hsa-mir-372-3p (MIRT742608)
- hsa-mir-373-3p (MIRT742621)
- hsa-mir-3941 (MIRT743148)
- hsa-mir-4269 (MIRT743541)
- hsa-mir-4271 (MIRT743637)
- hsa-mir-4283 (MIRT743720)
- hsa-mir-4481 (MIRT745120)
- hsa-mir-4488 (MIRT745244)
- hsa-mir-4514 (MIRT745723)
- hsa-mir-4675 (MIRT746889)
- hsa-mir-4690-5p (MIRT747078)
- hsa-mir-4692 (MIRT747130)
- hsa-mir-4697-5p (MIRT747247)
- hsa-mir-4706 (MIRT747338)
- hsa-mir-4718 (MIRT747529)
- hsa-mir-4725-3p (MIRT747718)
- hsa-mir-4731-3p (MIRT747921)
- hsa-mir-4731-5p (MIRT747949)
- hsa-mir-4741 (MIRT748126)
- hsa-mir-4745-5p (MIRT748191)
- hsa-mir-4747-5p (MIRT748275)
- hsa-mir-4749-5p (MIRT748318)
- hsa-mir-4801 (MIRT749005)
- hsa-mir-491-5p (MIRT749225)
- hsa-mir-512-3p (MIRT749748)
- hsa-mir-5196-5p (MIRT750059)
- hsa-mir-520a-3p (MIRT750184)
- hsa-mir-520b (MIRT750209)
- hsa-mir-520c-3p (MIRT750216)
- hsa-mir-520d-3p (MIRT750227)
- hsa-mir-520e (MIRT750240)
- hsa-mir-5582-5p (MIRT750954)
- hsa-mir-5589-5p (MIRT751030)
- hsa-mir-603 (MIRT751633)
- hsa-mir-605-3p (MIRT751653)
- hsa-mir-637 (MIRT752700)
- hsa-mir-663a (MIRT753589)
- hsa-mir-6715b-5p (MIRT753695)
- hsa-mir-6777-5p (MIRT755393)
- hsa-mir-6780b-5p (MIRT755649)
- hsa-mir-6787-5p (MIRT755950)
- hsa-mir-6808-5p (MIRT756598)
- hsa-mir-6816-5p (MIRT756813)
- hsa-mir-6846-5p (MIRT757446)
- hsa-mir-6848-5p (MIRT757520)
- hsa-mir-6889-5p (MIRT758642)
- hsa-mir-6893-5p (MIRT758743)
- hsa-mir-8485 (MIRT760287)
- hsa-mir-92b-5p (MIRT760673)
- hsa-mir-940 (MIRT760839)
miRNA Products
- Search ViGene Biosciences for SBF1
Inhibitory RNA Products
- Origene RNAi, sirna, and shrna products in human, mouse, rat for SBF1
- Browse OriGene Inhibitory RNA Products For SBF1
- genomics-online: shRNA clones - Search results for available SBF1 gene related products
-
ViGene Biosciences ready-to-package AAV shRNAs for SBF1 gene
Clone Products
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- VectorBuilder custom plasmid, inducible vectors for SBF1
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for SBF1
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- genomics-online: cdna clones - Search results for available SBF1 gene related products
- orf clones - Search results for available SBF1 gene related products
- Applied Biological Materials Clones for SBF1
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Cell Line Products
-
Horizon Cell Lines for SBF1
-
ViGene Biosciences adenoviral particle packaged cDNA for SBF1 gene
-
ViGene Biosciences lentiviral particle packaged cDNA for SBF1 gene
-
ViGene Biosciences ready-to-package AAV shRNAs for SBF1 gene
No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for SBF1 Gene
Localization for SBF1 Gene
Subcellular locations from UniProtKB/Swiss-Prot for SBF1 Gene
- Nucleus.
| Compartment | Confidence |
|---|---|
| cytosol | 5 |
| nucleus | 4 |
| endoplasmic reticulum | 4 |
| plasma membrane | 1 |
| extracellular | 1 |
| mitochondrion | 1 |
| lysosome | 1 |
- Nuclear bodies (2)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005634 | nucleus | IEA | -- |
| GO:0005737 | cytoplasm | IDA | 16787938 |
| GO:0005789 | endoplasmic reticulum membrane | TAS | -- |
| GO:0005829 | cytosol | TAS | -- |
| GO:0016021 | integral component of membrane | TAS | 9736772 |
Pathways & Interactions for SBF1 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Vesicle-mediated transport | ||
| 2 | RAB GEFs exchange GTP for GDP on RABs | ||
Pathways by source for SBF1 Gene
3 Reactome pathways for SBF1 Gene
Interacting Proteins for SBF1 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0006470 | protein dephosphorylation | TAS | 9736772 |
| GO:0006661 | phosphatidylinositol biosynthetic process | TAS | -- |
| GO:0007283 | spermatogenesis | IEA | -- |
| GO:0043087 | regulation of GTPase activity | IEA | -- |
No data available for SIGNOR curated interactions for SBF1 Gene
Transcripts for SBF1 Gene
mRNA/cDNA for SBF1 Gene
- (5) REFSEQ mRNAs :
- (12) Additional mRNA sequences :
- (352) Selected AceView cDNA sequences:
- (8) Ensembl transcripts including schematic representations, and UCSC links where relevant :
CRISPR Products
-
OriGene CRISPR knockouts for SBF1
- genomics-online: gRNA clones - Search results for available SBF1 gene related products
- Applied Biological Materials CRISPR for SBF1
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for SBF1
- GenScript: Design CRISPR guide RNA sequences for SBF1
miRNA Products
- Search ViGene Biosciences for SBF1
Inhibitory RNA Products
- Origene RNAi, sirna, and shrna products in human, mouse, rat for SBF1
- Browse OriGene Inhibitory RNA Products For SBF1
- genomics-online: shRNA clones - Search results for available SBF1 gene related products
-
ViGene Biosciences ready-to-package AAV shRNAs for SBF1 gene
Clone Products
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- VectorBuilder custom plasmid, inducible vectors for SBF1
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for SBF1
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- genomics-online: cdna clones - Search results for available SBF1 gene related products
- orf clones - Search results for available SBF1 gene related products
- Applied Biological Materials Clones for SBF1
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
| 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: |
Expression for SBF1 Gene
This gene is overexpressed in Plasma (21.8), Frontal cortex (11.0), Peripheral blood mononuclear cells (9.1), and Brain (6.7).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for SBF1 Gene
- Elite partner
NURSA nuclear receptor signaling pathways regulating expression of SBF1 Gene:
SBF1SOURCE GeneReport for Unigene cluster for SBF1 Gene:
Hs.589924Evidence on tissue expression from TISSUES for SBF1 Gene
- Muscle(4.3)
- Blood(4.2)
- Liver(4.1)
- Nervous system(4)
- Pancreas(2.2)
- Lung(2)
Phenotype-based relationships between genes and organs from Gene ORGANizer for SBF1 Gene
Germ Layers:
- ectoderm
- endoderm
- mesoderm
Systems:
- nervous
- respiratory
- skeletal muscle
- skeleton
Regions:
Head and neck:
- brain
- head
- skull
Thorax:
- lung
- rib
- rib cage
Pelvis:
- pelvis
Limb:
- foot
- lower limb
General:
- peripheral nerve
- peripheral nervous system
- spinal column
- spinal cord
- vertebrae
Primer Products
-
OriGene qPCR primer pairs for SBF1
- genomics-online: primer clones - Search results for available SBF1 gene related products
No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for SBF1 Gene
Orthologs for SBF1 Gene
This gene was present in the common ancestor of animals.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | SBF1 33 34 |
|
||
| dog (Canis familiaris) |
Mammalia | -- 34 |
|
OneToMany | |
| SBF1 33 |
|
||||
| -- 34 |
|
OneToMany | |||
| oppossum (Monodelphis domestica) |
Mammalia | SBF1 34 |
|
OneToOne | |
| cow (Bos Taurus) |
Mammalia | SBF1 33 34 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Sbf1 33 |
|
||
| mouse (Mus musculus) |
Mammalia | Sbf1 33 16 34 |
|
||
| platypus (Ornithorhynchus anatinus) |
Mammalia | -- 34 |
|
ManyToMany | |
| chicken (Gallus gallus) |
Aves | SBF1 33 34 |
|
||
| lizard (Anolis carolinensis) |
Reptilia | SBF1 34 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | sbf1 33 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | sbf1 33 34 |
|
||
| fruit fly (Drosophila melanogaster) |
Insecta | Sbf 35 34 |
|
||
| worm (Caenorhabditis elegans) |
Secernentea | H28G03.6 35 |
|
|
|
| mtm-5 34 |
|
OneToMany | |||
| sea squirt (Ciona savignyi) |
Ascidiacea | CSA.3355 34 |
|
OneToMany |
- Species where no ortholog for SBF1 was found in the sources mined by GeneCards:
-
- 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)
Paralogs for SBF1 Gene
Paralogs for SBF1 Gene
(4) SIMAP similar genes for SBF1 Gene using alignment to 5 proteins:
Pseudogenes.org Pseudogenes for SBF1 Gene
Variants for SBF1 Gene
| SNP ID | Clin | Chr 22 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs200488568 | pathogenic, Charcot-Marie-Tooth disease, type 4B3 | 50,454,858(-) | T/C | coding_sequence_variant, missense_variant | |
| rs587776986 | pathogenic, Charcot-Marie-Tooth disease, type 4B3 | 50,465,084(-) | T/C | coding_sequence_variant, missense_variant | |
| rs690016543 | pathogenic, likely-pathogenic, Charcot-Marie-Tooth disease, type 4B3, Charcot-Marie-Tooth disease | 50,465,006(-) | C/T | coding_sequence_variant, missense_variant | |
| VAR_070046 | Charcot-Marie-Tooth disease 4B3 (CMT4B3) [MIM:615284] | p.Met417Val | |||
| VAR_070047 | Charcot-Marie-Tooth disease 4B3 (CMT4B3) [MIM:615284] | p.Thr1564Ala |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| nsv1073191 | CNV | deletion | 25765185 |
| nsv1118959 | CNV | deletion | 24896259 |
| nsv1160782 | CNV | deletion | 26073780 |
| nsv471224 | CNV | loss | 18288195 |
| nsv829338 | CNV | gain | 20364138 |
| nsv834238 | CNV | loss | 17160897 |
| nsv955201 | CNV | deletion | 24416366 |
Residual Variation Intolerance Score:
0.548% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
5.31;
70.55% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for SBF1 Gene
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SBF1 Gene
Disorders for SBF1 Gene
(8) MalaCards diseases for SBF1 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| charcot-marie-tooth disease, type 4b3 |
|
|
| neuropathy, congenital hypomyelinating or amyelinating, autosomal recessive |
|
|
| tooth disease |
|
|
| charcot-marie-tooth disease |
|
|
| centronuclear myopathy |
|
Search SBF1 in MalaCards
View complete list of genes associated with diseases
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.
Additional Disease Information for SBF1
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
No data available for Genatlas for SBF1 Gene
Publications for SBF1 Gene
- Association of SET domain and myotubularin-related proteins modulates growth control. (PMID: 9537414) Cui X … Cleary ML (Nature genetics 1998) 2 3 4 22 58
- Characterization of the myotubularin dual specificity phosphatase gene family from yeast to human. (PMID: 9736772) Laporte J … Mandel JL (Human molecular genetics 1998) 2 3 4 58
- SET binding factor 1 (SBF1) mutation causes Charcot-Marie-Tooth disease type 4B3. (PMID: 23749797) Nakhro K … Chung KW (Neurology 2013) 3 4 58
- Assessment of a polymorphism of SDK1 with hypertension in Japanese Individuals. (PMID: 19851296) Oguri M … Yamada Y (American journal of hypertension 2010) 3 44 58
- Association of genetic variants with hemorrhagic stroke in Japanese individuals. (PMID: 20198315) Yoshida T … Yamada Y (International journal of molecular medicine 2010) 3 44 58
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- Yeast expression
- antibodies-online: Search results for 19 available SBF1 Antibodies ranked by validation data
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Sources for SBF1 Gene
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