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This gene encodes a protein which contains a several motifs including a ski homology region and a SET-binding region in addition to three nuclear localization signals. The encoded protein has been shown to bind the SET nuclear oncogene which is involved in DNA replication. Mutations in this gene are associated with Schinzel-Giedion midface retraction syndrome. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2011]
SETBP1 (SET Binding Protein 1) is a Protein Coding gene. Diseases associated with SETBP1 include Schinzel-Giedion Midface Retraction Syndrome and Mental Retardation, Autosomal Dominant 29. Among its related pathways are PKMTs methylate histone lysines. An important paralog of this gene is ASH1L.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0003677 | DNA binding | IEA | -- |
GO:0005515 | protein binding | IPI | 25416956 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005634 | nucleus | IEA | -- |
GO:0005654 | nucleoplasm | IDA | -- |
GO:0005829 | cytosol | IDA | -- |
GO:0016604 | nuclear body | IDA | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | PKMTs methylate histone lysines |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | SETBP1 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | SETBP1 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | SETBP1 30 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Setbp1 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Setbp1 30 17 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | SETBP1 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | SETBP1 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | SETBP1 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | SETBP1 31 |
|
OneToOne | |
African clawed frog (Xenopus laevis) |
Amphibia | Xl.13769 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | setbp1 30 31 |
|
OneToOne | |
Fruit Fly (Drosophila melanogaster) |
Insecta | CG4565 31 |
|
ManyToMany | |
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToOne |
SNP ID | Clinical significance and condition | Chr 18 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
636309 | Likely Pathogenic: Intellectual disability | 44,952,005(+) | C/T | NONSENSE | |
638281 | Likely Pathogenic: Lymphoma | 44,951,043(+) | G/T | MISSENSE_VARIANT | |
638458 | Uncertain Significance: Mental retardation, autosomal dominant 29 | 44,952,395(+) | C/T | MISSENSE_VARIANT | |
701922 | Benign: not provided | 45,038,615(+) | G/A | SYNONYMOUS_VARIANT | |
702298 | Likely Benign: not provided | 44,952,049(+) | G/A | SYNONYMOUS_VARIANT |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv1005718 | CNV | deletion | 20482838 |
esv1008653 | CNV | insertion | 20482838 |
esv22280 | CNV | loss | 19812545 |
esv2671518 | CNV | deletion | 23128226 |
esv3330726 | CNV | insertion | 20981092 |
esv3583035 | CNV | loss | 25503493 |
esv3642401 | CNV | loss | 21293372 |
esv3642402 | CNV | loss | 21293372 |
nsv1059424 | CNV | gain | 25217958 |
nsv1072796 | CNV | deletion | 25765185 |
nsv1132882 | CNV | insertion | 24896259 |
nsv2272 | CNV | deletion | 18451855 |
nsv2273 | CNV | deletion | 18451855 |
nsv2274 | CNV | insertion | 18451855 |
nsv472338 | CNV | novel sequence insertion | 20440878 |
nsv474017 | CNV | novel sequence insertion | 20440878 |
nsv828220 | CNV | gain | 20364138 |
nsv833637 | CNV | gain | 17160897 |
nsv960274 | CNV | duplication | 23825009 |
Disorder | Aliases | PubMed IDs |
---|---|---|
schinzel-giedion midface retraction syndrome |
|
|
mental retardation, autosomal dominant 29 |
|
|
leukemia, chronic myeloid |
|
|
setbp1 disorder |
|
|
intellectual disability-expressive aphasia-facial dysmorphism syndrome |
|
|