SETBP1

GENE INFORMATION

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Gene name

SETBP1 (HGNC Symbol)

Synonyms

KIAA0437, SEB

Description

SET binding protein 1 (HGNC Symbol)

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]

Chromosome

18 (Chromosome progress)

Cytoband

q12.3

Chromosome location (bp)

42260138 - 42648475

Ensembl

ENSG00000152217 (version 73.37)

Entrez gene

26040

UniProt

Q9Y6X0 (UniProt - Evidence at protein level)

neXtProt

NX_Q9Y6X0

Antibodypedia

SETBP1 antibodies
 

PROTEIN VIEW

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SETBP1-001
 
SETBP1-002
 
SETBP1-003
 
 
 
 
 

PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

SETBP1-001 ENSP00000282030
ENST00000282030
Q9Y6X0
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Show » 1596 175 No 0
SETBP1-002 ENSP00000390687
ENST00000426838
Q9Y6X0
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Show » 242 26.4 No 0
SETBP1-003 ENSP00000468506
ENST00000591940
K7ES17
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137 14.7 No 0