SETBP1
Sign in to saveAlso known as SET binding protein 1, SEB, MRD29, SET bindign protein 1
SET binding protein 1 is a protein that in humans is encoded by the SETBP1 gene.
Gene data
SETBP1- Name
- SET binding protein 1
- Type
- protein-coding
- Position
- 44,680,066–45,068,510 (+)
- Aliases
- MRD29, SEB
- Ensembl
- ENSG00000152217
- RefSeq RNA
- NM_001130110.2, NM_001379141.1, NM_001379142.1, NM_001410862.1, NM_015559.3
- RefSeq protein
- NP_001123582.1, NP_001366070.1, NP_001366071.1, NP_001397791.1, NP_056374.2
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 Ontology
Biological process
Molecular function
Cellular component
Pathways
via MyGene.info
Gene · Ensembl
SET binding protein 1
- Symbol
- SETBP1
- Biotype
- Protein coding
- Organism
- Homo sapiens
- Location
- 18:44,680,066-45,068,510
- Strand
- Forward (+)
- Assembly
- GRCh38
via Ensembl · EMBL-EBI
Wikidata facts
- Instance of
- gene
Show 8 more facts
- HomoloGene ID
- 9192
- genomic end
- 45068510
- found in taxon
- Homo sapiens
- exact match
- identifiers.org/ncbigene/26040
- genomic start
- 42260138
- chromosome
- human chromosome 18
- cytogenetic location
- 18q12.3
- genetic association
- juvenile myelomonocytic leukemia
Sources (4)
via Wikidata · CC0
~2 min read
Encyclopedic overview
6 sectionsContents
- Gene
- Function
- Clinical significance
- References
- Further reading
- External links
SET binding protein 1 is a protein that in humans is encoded by the SETBP1 gene.
== Gene ==
Excerpted from Wikipedia’s “SETBP1” article, available under the CC BY-SA 4.0 licence.