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Aliases for SETBP1 Gene

Aliases for SETBP1 Gene

  • SET Binding Protein 1 2 3
  • SEB 3 4 6
  • KIAA0437 4 6
  • SET-Binding Protein 3
  • MRD29 3

External Ids for SETBP1 Gene

Previous GeneCards Identifiers for SETBP1 Gene

  • GC18P042594
  • GC18P042047
  • GC18P042148
  • GC18P040512
  • GC18P040535
  • GC18P042260
  • GC18P039118

Summaries for SETBP1 Gene

Entrez Gene Summary for SETBP1 Gene

  • 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]

GeneCards Summary for SETBP1 Gene

SETBP1 (SET Binding Protein 1) is a Protein Coding gene. Diseases associated with SETBP1 include schinzel-giedion midface retraction syndrome and mental retardation, autosomal dominant 29. An important paralog of this gene is EHMT1.

No data available for UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SETBP1 Gene

Genomics for SETBP1 Gene

Regulatory Elements for SETBP1 Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for SETBP1 Gene

Start:
44,680,173 bp from pter
End:
45,068,510 bp from pter
Size:
388,338 bases
Orientation:
Plus strand

Genomic View for SETBP1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for SETBP1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SETBP1 Gene

Proteins for SETBP1 Gene

  • Protein details for SETBP1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9Y6X0-SETBP_HUMAN
    Recommended name:
    SET-binding protein
    Protein Accession:
    Q9Y6X0
    Secondary Accessions:
    • A6H8W5
    • Q6P6C3
    • Q9UEF3

    Protein attributes for SETBP1 Gene

    Size:
    1596 amino acids
    Molecular mass:
    175008 Da
    Quaternary structure:
    • Interacts with SET.
    SequenceCaution:
    • Sequence=AAI46777.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=BAA24826.2; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305}; Sequence=BAA82444.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Alternative splice isoforms for SETBP1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SETBP1 Gene

Proteomics data for SETBP1 Gene at MOPED

Post-translational modifications for SETBP1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for SETBP1 Gene

Antibody Products

No data available for DME Specific Peptides for SETBP1 Gene

Domains for SETBP1 Gene

Protein Domains for SETBP1 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for SETBP1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9Y6X0

UniProtKB/Swiss-Prot:

SETBP_HUMAN :
  • Q9Y6X0
Domain:
  • Contains 3 A.T hook DNA-binding domains.
genes like me logo Genes that share domains with SETBP1: view

No data available for Gene Families for SETBP1 Gene

Function for SETBP1 Gene

Gene Ontology (GO) - Molecular Function for SETBP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003677 DNA binding IEA --
GO:0005515 protein binding IPI 25416956
genes like me logo Genes that share ontologies with SETBP1: view
genes like me logo Genes that share phenotypes with SETBP1: view

Animal Model Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for SETBP1

In Situ Assay Products

Flow Cytometry Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Animal Models , miRNA , Transcription Factor Targeting and HOMER Transcription for SETBP1 Gene

Localization for SETBP1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SETBP1 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for SETBP1 Gene COMPARTMENTS Subcellular localization image for SETBP1 gene
Compartment Confidence
nucleus 5
cytosol 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for SETBP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
genes like me logo Genes that share ontologies with SETBP1: view

Pathways for SETBP1 Gene

SuperPathways for SETBP1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for SETBP1 Gene

None

No data available for Pathways by source for SETBP1 Gene

Transcripts for SETBP1 Gene

Unigene Clusters for SETBP1 Gene

SET binding protein 1:
Representative Sequences:

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for SETBP1

Primer Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for SETBP1 Gene

No ASD Table

Relevant External Links for SETBP1 Gene

GeneLoc Exon Structure for
SETBP1
ECgene alternative splicing isoforms for
SETBP1

Expression for SETBP1 Gene

mRNA expression in normal human tissues for SETBP1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues for SETBP1 Gene

This gene is overexpressed in Cerebrospinal fluid (35.9), Heart (16.0), and Plasma (14.0).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for SETBP1 Gene

SOURCE GeneReport for Unigene cluster for SETBP1 Gene Hs.435458

mRNA Expression by UniProt/SwissProt for SETBP1 Gene

Q9Y6X0-SETBP_HUMAN
Tissue specificity: Expressed in numerous tissues. Expressed at low levels in myeloid and monocytic cells as well as in CD34+ cells; expression levels are higher in myeloid malignancies.
genes like me logo Genes that share expressions with SETBP1: view

Expression partners for SETBP1 Gene

In Situ Assay Products

No data available for mRNA differential expression in normal tissues for SETBP1 Gene

Orthologs for SETBP1 Gene

This gene was present in the common ancestor of animals.

Orthologs for SETBP1 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia SETBP1 35
  • 91.7 (n)
  • 94.04 (a)
SETBP1 36
  • 94 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SETBP1 35
  • 91.9 (n)
  • 95.14 (a)
SETBP1 36
  • 91 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Setbp1 35
  • 87.23 (n)
  • 89.44 (a)
Setbp1 16
Setbp1 36
  • 90 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia SETBP1 35
  • 99.69 (n)
  • 99.81 (a)
SETBP1 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Setbp1 35
  • 87.51 (n)
  • 90.02 (a)
oppossum
(Monodelphis domestica)
Mammalia SETBP1 36
  • 83 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SETBP1 36
  • 80 (a)
OneToOne
chicken
(Gallus gallus)
Aves SETBP1 35
  • 75.84 (n)
  • 77.39 (a)
SETBP1 36
  • 75 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SETBP1 36
  • 72 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.13769 35
zebrafish
(Danio rerio)
Actinopterygii setbp1 35
  • 57.28 (n)
  • 51.22 (a)
setbp1 36
  • 47 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG4565 36
  • 13 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 6 (a)
OneToOne
Species with no ortholog for SETBP1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for SETBP1 Gene

ENSEMBL:
Gene Tree for SETBP1 (if available)
TreeFam:
Gene Tree for SETBP1 (if available)

Paralogs for SETBP1 Gene

Selected SIMAP similar genes for SETBP1 Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with SETBP1: view

Variants for SETBP1 Gene

Sequence variations from dbSNP and Humsavar for SETBP1 Gene

SNP ID Clin Chr 18 pos Sequence Context AA Info Type MAF
rs1476 -- 45,003,553(-) GGAAG(C/T)GCCTC intron-variant
rs3324 -- 44,716,295(-) ATAGG(G/T)TCTTA intron-variant
rs582472 -- 44,895,811(-) AAAAC(A/T)AAATA intron-variant
rs582521 -- 44,869,650(-) GCGAG(C/T)GTCCT intron-variant
rs583773 -- 44,866,285(-) GCCTA(A/G/T)CATGT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for SETBP1 Gene

Variant ID Type Subtype PubMed ID
nsv909584 CNV Loss 21882294
nsv2272 CNV Loss 18451855
nsv828220 CNV Gain 20364138
esv272827 CNV Insertion 20981092
esv1008653 CNV Insertion 20482838
nsv2273 CNV Loss 18451855
nsv833637 CNV Gain 17160897
esv1005718 CNV Deletion 20482838
nsv2274 CNV Insertion 18451855
nsv909585 CNV Gain 21882294
esv22280 CNV Loss 19812545
esv2671518 CNV Deletion 23128226

Relevant External Links for SETBP1 Gene

HapMap Linkage Disequilibrium report
SETBP1
Human Gene Mutation Database (HGMD)
SETBP1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SETBP1 Gene

Disorders for SETBP1 Gene

(1) OMIM Diseases for SETBP1 Gene (611060)

UniProtKB/Swiss-Prot

SETBP_HUMAN
  • Schinzel-Giedion midface retraction syndrome (SGMFS) [MIM:269150]: 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. {ECO:0000269 PubMed:20436468}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Note=SETBP1 somatic mutations are frequently found in myeloid malignancies. They cause gain of function associated with myeloid leukemic transformation (PubMed:23832012). Myeloid malignancies are separated into three main categories: myeloproliferative neoplasms (MPN) characterized by cellular proliferation of one or more hematologic cell lines in the peripheral blood, myelodysplastic syndromes (MDS) and MDS/MPN. The MDS/MPN category shows overlapping characteristics of both MDS and MPN and includes chronic myelomonocytic leukemia (CMML), juvenile myelomonocytic leukemia, atypical chronic myeloid leukemia (ACML) and unclassified MDS/MPN (PubMed:23628959). {ECO:0000269 PubMed:23628959, ECO:0000269 PubMed:23832012}.
  • Myelodysplastic syndrome (MDS) [MIM:614286]: A heterogeneous group of closely related clonal hematopoietic disorders. All are characterized by a hypercellular or hypocellular bone marrow with impaired morphology and maturation, dysplasia of the myeloid, megakaryocytic and/or erythroid lineages, and peripheral blood cytopenias resulting from ineffective blood cell production. Included diseases are: refractory anemia (RA), refractory anemia with ringed sideroblasts (RARS), refractory anemia with excess blasts (RAEB), refractory cytopenia with multilineage dysplasia and ringed sideroblasts (RCMD-RS); chronic myelomonocytic leukemia (CMML) is a myelodysplastic/myeloproliferative disease. MDS is considered a premalignant condition in a subgroup of patients that often progresses to acute myeloid leukemia (AML). {ECO:0000269 PubMed:23648668, ECO:0000269 PubMed:23889083}. Note=The gene represented in this entry is involved in disease pathogenesis.
  • Mental retardation, autosomal dominant 29 (MRD29) [MIM:616078]: A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRD29 patients manifest severe intellectual disability, behavioral difficulties, speech and motor delays, and dysmorphic facial features. {ECO:0000269 PubMed:25217958}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Leukemia, acute myelogenous (AML) [MIM:601626]: A subtype of acute leukemia, a cancer of the white blood cells. AML is a malignant disease of bone marrow characterized by maturational arrest of hematopoietic precursors at an early stage of development. Clonal expansion of myeloid blasts occurs in bone marrow, blood, and other tissue. Myelogenous leukemias develop from changes in cells that normally produce neutrophils, basophils, eosinophils and monocytes. {ECO:0000269 PubMed:23648668, ECO:0000269 PubMed:23889083}. Note=The gene represented in this entry is involved in disease pathogenesis.
  • Leukemia, chronic myeloid, atypical (ACML) [MIM:608232]: A myeloproliferative disorder that shares clinical and laboratory features with chronic myeloid leukemia but lacks the pathognomonic Philadelphia chromosome and the corresponding BCR/ABL1 fusion transcript. Features include myeloid predominance in the bone marrow, myeloid proliferation and low leukocyte alkaline phosphatase value, splenomegaly, hepatomegaly, elevated white blood cell count. Enlarged spleen may also be associated with a hypermetabolic state, fever, weight loss, and chronic fatigue. The enlarged liver may contribute to the patients weight loss. {ECO:0000269 PubMed:23222956}. Note=The gene represented in this entry is involved in disease pathogenesis.
  • Leukemia, juvenile myelomonocytic (JMML) [MIM:607785]: An aggressive pediatric myelodysplastic syndrome/myeloproliferative disorder characterized by malignant transformation in the hematopoietic stem cell compartment with proliferation of differentiated progeny. Patients have splenomegaly, enlarged lymph nodes, rashes, and hemorrhages. {ECO:0000269 PubMed:23832011}. Note=The gene represented in this entry is involved in disease pathogenesis.

Relevant External Links for SETBP1

Genetic Association Database (GAD)
SETBP1
Human Genome Epidemiology (HuGE) Navigator
SETBP1
genes like me logo Genes that share disorders with SETBP1: view

No data available for University of Copenhagen DISEASES , Novoseek inferred disease relationships and Genatlas for SETBP1 Gene

Publications for SETBP1 Gene

  1. Identification and characterization of SEB, a novel protein that binds to the acute undifferentiated leukemia-associated protein SET. (PMID: 11231286) Minakuchi M. … Adachi Y. (Eur. J. Biochem. 2001) 2 3 4 23
  2. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose J.E. … Uhl G.R. (Mol. Med. 2010) 3 48
  3. De novo mutations of SETBP1 cause Schinzel-Giedion syndrome. (PMID: 20436468) Hoischen A. … Veltman J.A. (Nat. Genet. 2010) 3 4
  4. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PMID: 20628086) Bailey S.D. … Anand S. (Diabetes Care 2010) 3 48
  5. Prediction of the coding sequences of unidentified human genes. VIII. 78 new cDNA clones from brain which code for large proteins in vitro. (PMID: 9455477) Ishikawa K. … Ohara O. (DNA Res. 1997) 3 4

Products for SETBP1 Gene

Sources for SETBP1 Gene

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