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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 hav... See more...
Aliases for SBF1 Gene
Aliases for SBF1 Gene
External Ids for SBF1 Gene
- HGNC: 10542
- NCBI Entrez Gene: 6305
- Ensembl: ENSG00000100241
- OMIM®: 603560
- UniProtKB/Swiss-Prot: 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, 1, 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 Summary for SBF1 Gene
-
Acts as an adapter for the phosphatase MTMR2 to regulate MTMR2 catalytic activity and subcellular location (PubMed:12668758). May function as a guanine nucleotide exchange factor (GEF) activating RAB28 (PubMed:20937701). Promotes the exchange of GDP to GTP, converting inactive GDP-bound Rab proteins into their active GTP-bound form (PubMed:20937701). Inhibits myoblast differentiation in vitro and induces oncogenic transformation in fibroblasts (PubMed:9537414).
Additional gene information for SBF1 Gene
No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for SBF1 Gene
Genomics for SBF1 Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for SBF1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication |
Request up-to-date GeneHancer data (full dataset)
GeneHancers around SBF1 on the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for SBF1
- Top Transcription factor binding sites by QIAGEN in the SBF1 gene promoter:
-
- AP-2alpha
- AP-2alphaA
- AP-2beta
- AP-2gamma
- C/EBPalpha
- E4BP4
- Egr-3
- ER-alpha
- LCR-F1
- RelA
Genomic Locations for SBF1 Gene
Latest Assembly
- chr22:50,445,000-50,475,035
- (GRCh38/hg38)
- Size:
- 30,036 bases
- Orientation:
- Minus strand
Previous Assembly
- chr22:50,883,429-50,913,464
- (GRCh37/hg19 by Entrez Gene)
- Size:
- 30,036 bases
- Orientation:
- Minus strand
Genomic View for SBF1 Gene
Genes around SBF1 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 22q13.33 by HGNC
- 22q13.33 by Entrez Gene
- 22q13.33 by Ensembl
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
- A0A024R4Z9
- A6PVG9
- G5E933
- O60228
- Q5JXD8
- Q5PPM2
- Q96GR9
- Q9UGB8
Protein attributes for SBF1 Gene
- Size:
- 1868 amino acids
- Molecular mass:
- 208443 Da
- Quaternary structure:
-
- Heterodimer with lipid phosphatase MTMR2 (PubMed:12668758). Interacts with KMT2A/MLL1 (via SET domain) (PubMed:9537414). Interacts with SUV39H1 (PubMed:10848615).
- SequenceCaution:
-
- Sequence=AAC39675.1; Type=Frameshift; Evidence={ECO:0000305};
Protein Expression for SBF1 Gene
Post-translational modifications for SBF1 Gene
Other Protein References for SBF1 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibodies for research
- Novus Biologicals Antibodies for SBF1
- Invitrogen Antibodies for SBF1 (AFLGC-Sbf1)
-
Boster Bio Antibodies for SBF1
-
Custom Antibody ServicesProSci Antibodies for SBF1
-
Santa Cruz Biotechnology (SCBT) Antibodies for SBF1
Protein products for research
- Search Origene for Purified Proteins, MassSpec and Protein Over-expression Lysates for SBF1
- Origene Custom Protein Services for SBF1
- Novus Biologicals proteins for SBF1
- antibodies-online: Search results for available SBF1 related products ranked by validation data
Assay products for research
- 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
- InterPro:
- Blocks:
-
- Pleckstrin-like
Suggested Antigen Peptide Sequences for SBF1 Gene
- GenScript: Design optimal peptide antigens:
-
- SET binding factor 1 (A6PVG7_HUMAN)
- SET binding factor 1 (A6PVG8_HUMAN)
- SET binding factor 1 (A6PVH0_HUMAN)
- SET-binding factor 1 (MTMR5_HUMAN)
- SBF1 protein (Q6PGN5_HUMAN)
Graphical View of Domain Structure for InterPro Entry
O95248UniProtKB/Swiss-Prot:
MTMR5_HUMAN :- The C-terminal domain mediates interaction with MTMR2.
- Belongs to the protein-tyrosine phosphatase family. Non-receptor class myotubularin subfamily.
- Domain:
-
- The C-terminal domain mediates interaction with MTMR2.
- Family:
-
- Belongs to the protein-tyrosine phosphatase family. Non-receptor class myotubularin subfamily.
Function for SBF1 Gene
Molecular function for SBF1 Gene
- UniProtKB/Swiss-Prot Function:
- Acts as an adapter for the phosphatase MTMR2 to regulate MTMR2 catalytic activity and subcellular location (PubMed:12668758). May function as a guanine nucleotide exchange factor (GEF) activating RAB28 (PubMed:20937701). Promotes the exchange of GDP to GTP, converting inactive GDP-bound Rab proteins into their active GTP-bound form (PubMed:20937701). Inhibits myoblast differentiation in vitro and induces oncogenic transformation in fibroblasts (PubMed:9537414).
- GENATLAS Biochemistry:
- SET binding factor 1,expressed in skeletal muscle,heart,placenta,brain,liver and pancreas
Phenotypes From GWAS Catalog for SBF1 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005085 | guanyl-nucleotide exchange factor activity | IBA,IDA | 20937701 |
| GO:0008138 | protein tyrosine/serine/threonine phosphatase activity | TAS | 9736772 |
| GO:0016791 | NOT phosphatase activity | IMP | 9537414 |
| 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 Sbf1<tm1Mlc>
Animal Models for research
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR products for research
- Applied Biological Materials (abm): CRISPR Clones for SBF1 - Starting at $85 >
- * SBF1 CRISPR as ready-to-use vector or virus: Non-viral | Lenti- | Adeno- | AAV- | siRNA - Browse All
- * Cas9 Nucleases, Nickases, Null Mutants, and GFP tag also available.
-
OriGene CRISPR knockouts for SBF1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for SBF1
-
Santa Cruz Biotechnology (SCBT) CRISPR 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 for research
Inhibitory RNAs for research
- Origene shrna, sirna, and RNAi products in human, mouse, rat for SBF1
- Browse OriGene Inhibitory RNA Products For SBF1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SBF1
Clone products for research
- Applied Biological Materials (abm): Clones for SBF1 - Starting at $45 >
- * SBF1 as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Retro- | Protein Vector - Browse All
- * Viral Packaging Services and High Titer Production Services also available.
- Sino Biological Human cDNA Clone for SBF1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for SBF1
Cell Lines for research
-
Horizon Cell Lines for SBF1
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
- Cytoplasm. Cytoplasm, perinuclear region.
| Compartment | Confidence |
|---|---|
| cytosol | 5 |
| nucleus | 4 |
| lysosome | 2 |
| plasma membrane | 1 |
| extracellular | 1 |
| cytoskeleton | 1 |
| mitochondrion | 1 |
| endoplasmic reticulum | 1 |
| endosome | 1 |
| golgi apparatus | 1 |
- Nuclear bodies (3)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005737 | cytoplasm | IEA,IDA | 16787938 |
| GO:0005789 | endoplasmic reticulum membrane | TAS | -- |
| GO:0005829 | cytosol | TAS | -- |
| GO:0016020 | membrane | IBA | 21873635 |
| 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
GPS-Prot Interaction Network for SBF1
| 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
- 2 REFSEQ mRNAs :
- 21 NCBI additional mRNA sequence :
- 8 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000348911 6045 nts (view in UCSC)
- ENST00000380817 8019 nts (view in UCSC)
- ENST00000399627 811 nts (view in UCSC)
- ENST00000418590 1578 nts (view in UCSC)
- ENST00000470434 2139 nts (view in UCSC)
CRISPR products for research
- Applied Biological Materials (abm): CRISPR Clones for SBF1 - Starting at $85 >
- * SBF1 CRISPR as ready-to-use vector or virus: Non-viral | Lenti- | Adeno- | AAV- | siRNA - Browse All
- * Cas9 Nucleases, Nickases, Null Mutants, and GFP tag also available.
-
OriGene CRISPR knockouts for SBF1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for SBF1
-
Santa Cruz Biotechnology (SCBT) CRISPR for SBF1
miRNA products for research
Inhibitory RNAs for research
- Origene shrna, sirna, and RNAi products in human, mouse, rat for SBF1
- Browse OriGene Inhibitory RNA Products For SBF1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SBF1
Clone products for research
- Applied Biological Materials (abm): Clones for SBF1 - Starting at $45 >
- * SBF1 as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Retro- | Protein Vector - Browse All
- * Viral Packaging Services and High Titer Production Services also available.
- Sino Biological Human cDNA Clone for SBF1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for SBF1
| 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
Expression for SBF1 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Testis (Reproductive System)
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, MaxQB, and MOPED for SBF1 Gene
- Elite partner
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for SBF1
SOURCE GeneReport for Unigene cluster for SBF1 Gene:
Hs.589924Evidence on tissue expression from TISSUES for SBF1 Gene
- Muscle(4.5)
- Blood(4.4)
- Nervous system(4.3)
- Liver(4.3)
- Skin(2.2)
- 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 for research
-
OriGene qPCR primer pairs for SBF1
Gene Expression Assays for research
No data available for 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 29 30 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | -- 30 |
|
OneToMany | |
| SBF1 29 |
|
||||
| -- 30 |
|
OneToMany | |||
| Oppossum (Monodelphis domestica) |
Mammalia | SBF1 30 |
|
OneToOne | |
| Cow (Bos Taurus) |
Mammalia | SBF1 29 30 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Sbf1 29 |
|
||
| Mouse (Mus musculus) |
Mammalia | Sbf1 29 16 30 |
|
OneToOne | |
| Platypus (Ornithorhynchus anatinus) |
Mammalia | -- 30 |
|
ManyToMany | |
| Chicken (Gallus gallus) |
Aves | SBF1 29 30 |
|
OneToOne | |
| Lizard (Anolis carolinensis) |
Reptilia | SBF1 30 |
|
OneToOne | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | sbf1 29 |
|
||
| Zebrafish (Danio rerio) |
Actinopterygii | sbf1 29 30 |
|
OneToOne | |
| Fruit Fly (Drosophila melanogaster) |
Insecta | Sbf 30 31 |
|
OneToMany | |
| Worm (Caenorhabditis elegans) |
Secernentea | H28G03.6 31 |
|
|
|
| mtm-5 30 |
|
OneToMany | |||
| Sea Squirt (Ciona savignyi) |
Ascidiacea | CSA.3355 30 |
|
OneToMany |
- Species where no ortholog for SBF1 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Eremothecium 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 Vase (Ciona intestinalis)
- 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)
- Aminode:
- Evolutionary constrained regions (ECRs) for SBF1: view image
- Alliance of Genome Resources:
- Additional Orthologs for SBF1
Paralogs for SBF1 Gene
Paralogs for SBF1 Gene
(4) SIMAP similar genes for SBF1 Gene using alignment to 5 proteins:
- MTMR5_HUMAN
- G5E933_HUMAN
- H0Y5W8_HUMAN
- Q6PGN5_HUMAN
- Q86TK5_HUMAN
Pseudogenes.org Pseudogenes for SBF1 Gene
Variants for SBF1 Gene
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for SBF1 Gene
| SNP ID | Clinical significance and condition | Chr 22 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| 1030606 | Likely Pathogenic: Charcot-Marie-Tooth disease, type 4B3 | 50,467,904(-) |
C/T NM_002972.4(SBF1):c.161G>A (p.Trp54Ter) |
NONSENSE | |
| 1030607 | Uncertain Significance: Charcot-Marie-Tooth disease, type 4B3 | 50,464,382(-) |
C/A NM_002972.4(SBF1):c.1696G>T (p.Val566Leu) |
MISSENSE | |
| 1030608 | Uncertain Significance: Charcot-Marie-Tooth disease, type 4B3 | 50,461,188(-) |
C/T NM_002972.4(SBF1):c.2938G>A (p.Gly980Arg) |
MISSENSE | |
| 1030609 | Pathogenic: Charcot-Marie-Tooth disease, type 4B3 | 50,457,050(-) |
T/TCTGGAGGC NM_002972.4(SBF1):c.3880_3887dup (p.Arg1297fs) |
FRAMESHIFT_VARIANT,INTRON | |
| 1033556 | Uncertain Significance: Charcot-Marie-Tooth disease, type 4B3 | 50,461,599(-) |
T/C NM_002972.4(SBF1):c.2763A>G (p.Ala921=) |
SYNONYMOUS |
All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).
| 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
SNP Genotyping and Copy Number Assays for research
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SBF1 Gene
Disorders for SBF1 Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| charcot-marie-tooth disease, type 4b3 |
|
|
| neuropathy, congenital hypomyelinating, 1, 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 variants affecting the gene represented in this entry.
Additional Disease Information for SBF1
- Human Genome Epidemiology Navigator
- (HuGE)
- Atlas
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
- Open Targets Platform
- Open Targets Platform
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
- SET binding factor 1 (SBF1) mutation causes Charcot-Marie-Tooth disease type 4B3. (PMID: 23749797) Nakhro K … Chung KW (Neurology 2013) 3 4 72
- Regulation of myotubularin-related (MTMR)2 phosphatidylinositol phosphatase by MTMR5, a catalytically inactive phosphatase. (PMID: 12668758) Kim SA … Dixon JE (Proceedings of the National Academy of Sciences of the United States of America 2003) 3 4 22
- 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
- Family-wide characterization of the DENN domain Rab GDP-GTP exchange factors. (PMID: 20937701) Yoshimura S … Barr FA (The Journal of cell biology 2010) 3 4
ExternalLinks
Products for SBF1 Gene
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- Invitrogen Antibodies for SBF1 (AFLGC-Sbf1)
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- VectorBuilder Stable cell line generation for SBF1
- antibodies-online: Show 12 available SBF1 Antibodies ranked by validation data
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- antibodies-online: Search results for available SBF1 related products ranked by validation data
- Santa Cruz Biotechnology (SCBT) Antibodies for SBF1
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- Santa Cruz Biotechnology (SCBT) CRISPR for SBF1
- Custom Antibody ServicesProSci Antibodies for SBF1
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- Boster Bio Antibodies for SBF1
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Sources for SBF1 Gene
- (1) GeneCards
- (2) HGNC
- (3) NCBI Entrez Gene
- (4) UniProtKB/Swiss-Prot
- (5) Ensembl
- (6) OMIM® (Updated: 05-Apr-2021)
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) Cell Signaling Technology
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- (30) PanEnsembl
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- (65) Reactome
- (66) GeneGo (Thomson Reuters)
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- (69) GenomeRNAi
- (70) LifeMap
- (71) miRTarBase
- (72) MalaCards
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