SETBP1

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]

Description

SET binding protein 1

Tissue specificity

Low tissue specificity

Subcell location

Nucleoplasm, Nuclear bodies, Cytosol

Predicted location

Intracellular

Protein family

Cancer-related genes
Disease related genes
Human disease related genes
Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Predicted intracellular proteins
Protein evidence (Kim et al 2014)

Chromosome

18 (44680173 - 45068510)

Ensembl ID

ENSG00000152217  (ver. 103.38)

Orthologs

Mouse Setbp1: ENSMUSG00000024548

UniProt

Q9Y6X0

neXtProt

NX_Q9Y6X0

Human splice variants
Mouse splice variants

Protein structure