Description: Homo sapiens SET binding protein 1 (SETBP1), transcript variant 1, mRNA. RefSeq Summary (NM_015559): 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]. Transcript (Including UTRs) Position: hg19 chr18:42,260,863-42,648,475 Size: 387,613 Total Exon Count: 6 Strand: + Coding Region Position: hg19 chr18:42,281,312-42,643,663 Size: 362,352 Coding Exon Count: 5
ID:SETBP_HUMAN DESCRIPTION: RecName: Full=SET-binding protein; Short=SEB; SUBUNIT: Interacts with SET. SUBCELLULAR LOCATION: Nucleus. TISSUE SPECIFICITY: Expressed in numerous tissues. DISEASE: Defects in SETBP1 are the cause of Schinzel-Giedion midface retraction syndrome (SGMFS) [MIM:269150]. It is a disorder characterized by severe mental retardation, distinctive facial features, and multiple congenital malformations including skeletal abnormalities, genitourinary and renal malformations, cardiac defects, as well as a higher-than-normal prevalence of tumors, notably neuroepithelial neoplasia. SIMILARITY: Contains 3 A.T hook DNA-binding domains. SEQUENCE CAUTION: Sequence=AAI46777.1; Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=BAA24826.2; Type=Erroneous initiation; Note=Translation N-terminally shortened; Sequence=BAA82444.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
Albumins Tatijana Zemunik et al. Croatian medical journal 2009, Genome-wide association study of biochemical traits in Korcula Island, Croatia., Croatian medical journal.
[PubMed 19260141]
Although this study was underpowered for most of the reported associations to reach formal threshold of genome-wide significance under the assumption of independent multiple testing, replications of previous findings and consistency of association between the identified variants and more than one studied trait make such findings interesting for further functional follow-up studies. Changed allele frequencies in isolate population may contribute to identifying variants that would not be easily identified in much larger samples in outbred populations.
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on Q9Y6X0
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
Gene Ontology (GO) Annotations with Structured Vocabulary
Molecular Function: GO:0000981 RNA polymerase II transcription factor activity, sequence-specific DNA binding GO:0003677 DNA binding GO:0005515 protein binding
Biological Process: GO:0006357 regulation of transcription from RNA polymerase II promoter
US Server
Sequence and Links to Tools and Databases 
Common Gene Haplotype Alleles 
