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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
- 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, 1, Autosomal Recessive. Among its related pathways are RAB GEFs exchange GTP for GDP on RABs and Vesicle-mediated transport. 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
- Monarch Initiative
- Search for SBF1 at DataMed
- Search for SBF1 at HumanCyc
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 for SBF1 Gene
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 UCSC Golden Path with GeneCards custom track
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
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)
- 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:
Antibody Products
- Novus Biologicals Antibodies for SBF1
- Invitrogen Antibodies for SBF1 (AFLGC-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
- Novus Biologicals proteins for SBF1
- 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
- Blocks:
-
- Pleckstrin-like
- InterPro:
- ProtoNet:
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:0008138 | protein tyrosine/serine/threonine phosphatase activity | TAS | 9736772 |
| GO:0016791 | NOT phosphatase activity | IMP | 9537414 |
| GO:0017112 | Rab guanyl-nucleotide exchange factor activity | IDA | 20937701 |
| 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 Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for SBF1 - Select products 50% OFF >
- * SBF1 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for SBF1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for SBF1
- genomics-online: gRNA clones - Search results for available SBF1 gene related products
-
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
Inhibitory RNA Products
- 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
- genomics-online: shRNA clones - Search results for available SBF1 gene related products
Clone Products
- Applied Biological Materials (abm): Clones for SBF1 - Select products 50% OFF >
- * SBF1 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Sino Biological Human cDNA Clone for SBF1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for SBF1
- genomics-online: cdna clones - Search results for available SBF1 gene related products
- orf clones - Search results for available SBF1 gene related products
Cell Line Products
-
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 |
| endoplasmic reticulum | 4 |
| plasma membrane | 1 |
| extracellular | 1 |
| cytoskeleton | 1 |
| mitochondrion | 1 |
| endosome | 1 |
| lysosome | 1 |
| golgi apparatus | 1 |
- Nuclear bodies (3)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005737 | cytoplasm | IDA,IEA | 16787938 |
| GO:0005789 | endoplasmic reticulum membrane | TAS | -- |
| GO:0005829 | cytosol | TAS | -- |
| GO:0016021 | integral component of membrane | TAS | 9736772 |
| GO:0016604 | nuclear body | IDA | -- |
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 bps (ENST00000348911.10)
- ENST00000380817 8019 bps (ENST00000380817.8)
- ENST00000399627 811 bps (ENST00000399627.3)
- ENST00000418590 1578 bps (ENST00000418590.3)
- ENST00000470434 2139 bps (ENST00000470434.1)
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for SBF1 - Select products 50% OFF >
- * SBF1 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for SBF1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for SBF1
- genomics-online: gRNA clones - Search results for available SBF1 gene related products
-
Santa Cruz Biotechnology (SCBT) CRISPR for SBF1
miRNA Products
Inhibitory RNA Products
- 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
- genomics-online: shRNA clones - Search results for available SBF1 gene related products
Clone Products
- Applied Biological Materials (abm): Clones for SBF1 - Select products 50% OFF >
- * SBF1 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Sino Biological Human cDNA Clone for SBF1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for SBF1
- genomics-online: cdna clones - Search results for available SBF1 gene related products
- orf clones - Search results for available SBF1 gene related products
| 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
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(4.3)
- 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
Gene Expression Assay 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 31 30 |
|
OneToOne | |
| dog (Canis familiaris) |
Mammalia | -- 31 |
|
OneToMany | |
| SBF1 30 |
|
||||
| -- 31 |
|
OneToMany | |||
| oppossum (Monodelphis domestica) |
Mammalia | SBF1 31 |
|
OneToOne | |
| cow (Bos Taurus) |
Mammalia | SBF1 31 30 |
|
OneToOne | |
| rat (Rattus norvegicus) |
Mammalia | Sbf1 30 |
|
||
| mouse (Mus musculus) |
Mammalia | Sbf1 17 31 30 |
|
||
| platypus (Ornithorhynchus anatinus) |
Mammalia | -- 31 |
|
ManyToMany | |
| chicken (Gallus gallus) |
Aves | SBF1 31 30 |
|
OneToOne | |
| lizard (Anolis carolinensis) |
Reptilia | SBF1 31 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | sbf1 30 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | sbf1 31 30 |
|
OneToOne | |
| fruit fly (Drosophila melanogaster) |
Insecta | Sbf 31 32 |
|
OneToMany | |
| worm (Caenorhabditis elegans) |
Secernentea | H28G03.6 32 |
|
|
|
| mtm-5 31 |
|
OneToMany | |||
| sea squirt (Ciona savignyi) |
Ascidiacea | CSA.3355 31 |
|
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)
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
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 |
|---|---|---|---|---|---|
| 638527 | Uncertain Significance: Charcot-Marie-Tooth disease, type 4B3 | 50,462,920(-) | C/G | MISSENSE_VARIANT | |
| 707840 | Likely Benign: not provided | 50,447,194(-) | G/A | MISSENSE_VARIANT | |
| 708162 | Benign: not provided | 50,464,410(-) | A/G | SYNONYMOUS_VARIANT | |
| 708501 | Likely Benign: not provided | 50,447,603(-) | G/A | SYNONYMOUS_VARIANT | |
| 709384 | Benign: not provided | 50,465,205(-) | G/A | INTRON_VARIANT |
| 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 Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SBF1 Gene
Disorders for SBF1 Gene
(14) MalaCards diseases for SBF1 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards
| 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 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 23 54
- 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 23 54
- 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 54
- SET binding factor 1 (SBF1) mutation causes Charcot-Marie-Tooth disease type 4B3. (PMID: 23749797) Nakhro K … Chung KW (Neurology 2013) 3 4 54
- Association of genetic variants with hemorrhagic stroke in Japanese individuals. (PMID: 20198315) Yoshida T … Yamada Y (International journal of molecular medicine 2010) 3 41 54
ExternalLinks
Products for SBF1 Gene
- Browse OriGene Antibodies
- Custom Antibody Services
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- Search Origene for Purified Proteins, MassSpec and Protein Over-expression Lysates for SBF1
- Origene Custom Protein Services for SBF1
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- Novus Biologicals proteins for SBF1
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- Invitrogen Antibodies for SBF1 (AFLGC-SBF1)
- VectorBuilder Custom and pre-made DNA vectors for SBF1 (ie. gene expression, shRNA knockdown, CRISPR)
- VectorBuilder Viral vectors for SBF1 (ie. lentivirus, AAV, adenovirus)
- VectorBuilder CRISPR vectors for SBF1 (ie. knockout, knockin, CRISPRa, CRISPRi)
- VectorBuilder Virus packaging for SBF1 CRISPR vectors (ie. lentivirus, AAV, adenovirus)
- VectorBuilder Stable cell line generation for SBF1
- antibodies-online: Show 12 available SBF1 Antibodies ranked by validation data
- Compare Top SBF1 Antibodies
- antibodies-online: Search results for available SBF1 related products ranked by validation data
- antibodies-online: Search results for available SBF1 related products ranked by validation data
- Santa Cruz Biotechnology (SCBT) Antibodies for SBF1
- Search Santa Cruz Biotechnology (SCBT) for SBF1 siRNA/shRNA
- Santa Cruz Biotechnology (SCBT) CRISPR for SBF1
- Horizon Cell Lines for SBF1
- genomics-online: cdna clones - Search results for available SBF1 gene related products
- orf clones - Search results for available SBF1 gene related products
- genomics-online: gRNA clones - Search results for available SBF1 gene related products
- genomics-online: primer clones - Search results for available SBF1 gene related products
- genomics-online: shRNA clones - Search results for available SBF1 gene related products
- Browse GeneCopoeia Cell Lines
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for SBF1
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- Search GeneCopoeia for miRNA 3'UTR Target clone products 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
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) Cell Signaling Technology
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- (15) ProtoNet
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- (22) IntAct
- (23) Novoseek
- (24) PharmGKB
- (25) DrugBank
- (26) HMDB
- (27) ASD
- (28) SAGE
- (29) SOURCE
- (30) HomoloGene
- (31) PanEnsembl
- (32) euGenes
- (33) SGD
- (34) FlyBase
- (35) WormBase
- (36) Pseudogene
- (37) DGV
- (38) dbSNP
- (39) GenAtlas
- (40) HGMD
- (41) GAD
- (42) BGMUT
- (43) HuGE
- (44) Atlas
- (45) GenBank
- (46) H-invDB
- (47) HORDE
- (48) HUGE
- (49) IMGT
- (50) Leiden
- (51) miRBase
- (52) DME
- (53) OriGene
- (54) PubMed
- (55) R&D Systems
- (56) TGDB
- (57) Tocris
- (58) Abcam
- (59) Novus Biologicals
- (60) ProSpec
- (61) Sino Biological
- (62) GenScript
- (63) Qiagen
- (64) OCA
- (65) Proteopedia
- (66) MOPED
- (67) neXtProt
- (68) Reactome
- (69) GeneGo (Thomson Reuters)
- (70) DISEASES
- (71) SIMAP
- (72) GenomeRNAi
- (73) LifeMap
- (74) miRTarBase
- (75) MalaCards
- (76) Invitrogen
- (77) BitterDB
- (78) ESI-BIO
- (79) RefSeq
- (80) BioSystems
- (81) MaxQB
- (82) IUPHAR
- (83) BioGPS
- (84) Illumina
- (85) COMPARTMENTS
- (86) HOMER
- (87) PaxDb
- (88) ApexBio
- (89) Addgene
- (90) antibodies-online
- (91) CYP
- (92) NONCODE
- (93) TreeFam
- (94) PathCards
- (95) GeneReviews
- (96) GeneTex
- (97) Taconic Biosciences
- (98) GTEx
- (99) ProteomicsDB
- (100) SCBT
- (101) DGIdb
- (102) ClinicalTrials
- (103) RVIS
- (104) SIGNOR
- (105) diseasecard
- (106) NIH Rare Diseases
- (107) Orphanet
- (108) UMLS
- (109) GTR
- (110) Disease Ontology
- (111) Genetics Home Reference
- (112) MeSH
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- (115) NINDS
- (116) NCBI Bookshelf
- (117) ClinVar
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- (125) Horizon
- (126) The Signaling Pathways Project (SPP)
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- (136) abm
- (137) Human Protein Atlas
- (138) GWAS Catalog
- (139) Monarch Initiative
- (140) DataMed
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- (142) genomics-online
- (143) UCNEbase
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- (145) Applied Biosystems
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- (147) Aminode
- (148) GeneCopoeia
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- (150) RNACentral
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- (152) LOVD
- (153) miR2Disease
- (154) DiseaseEnhancer
- (155) Boster Bio
- (156) Biorbyt
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