Homo sapiens Gene: SETBP1
Summary
InnateDB Gene IDBG-2778.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol SETBP1
Gene Name SET binding protein 1
Synonyms SEB
Species Homo sapiens
Ensembl Gene ENSG00000152217
Encoded Proteins
SET binding protein 1
SET binding protein 1
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary 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]
Gene Information
Type Protein coding
Genomic Location Chromosome 18:44680173-45068510
Strand Forward strand
Band q12.3
Transcripts
ENST00000282030 ENSP00000282030
ENST00000426838 ENSP00000390687
ENST00000591940 ENSP00000468506
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 5 experimentally validated interaction(s) in this database.
They are also associated with 2 interaction(s) predicted by orthology.
Experimentally validated
Total 5 [view]
Protein-Protein 5 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 2 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0003677 DNA binding
Biological Process
Cellular Component
GO:0005634 nucleus
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Not yet available
Cross-References
SwissProt
TrEMBL K7ES17
UniProt Splice Variant
Entrez Gene 26040
UniGene Hs.435458 Hs.713863 Hs.713953
RefSeq NM_001130110 NM_015559 XM_005258243 XM_006722438
HUGO HGNC:15573
OMIM 611060
CCDS CCDS11923 CCDS45859
HPRD 10224
IMGT
EMBL AC015954 AC021766 AC090376 AC105074 AC120049
GenPept
RNA Seq Atlas 26040