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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 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]
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.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005085 | guanyl-nucleotide exchange factor activity | IEA | -- |
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 | -- |
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 |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Vesicle-mediated transport | ||
2 | RAB GEFs exchange GTP for GDP on RABs |
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 | -- |
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: |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | SBF1 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | -- 31 |
|
OneToMany | |
SBF1 30 |
|
||||
-- 31 |
|
OneToMany | |||
Oppossum (Monodelphis domestica) |
Mammalia | SBF1 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | SBF1 30 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Sbf1 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Sbf1 30 17 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | -- 31 |
|
ManyToMany | |
Chicken (Gallus gallus) |
Aves | SBF1 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | SBF1 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | sbf1 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | sbf1 30 31 |
|
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 |
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 |
Disorder | Aliases | PubMed IDs |
---|---|---|
charcot-marie-tooth disease, type 4b3 |
|
|
neuropathy, congenital hypomyelinating, 1, autosomal recessive |
|
|
tooth disease |
|
|
charcot-marie-tooth disease |
|
|
centronuclear myopathy |
|