SETBP1 - SET binding protein 1 Gene

Also Known as SEB; MRD29

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 26040

About SETBP1

Cytogenetic location: 18q12.3 Genomic coordinates (GRCh38): 18:44,680,073-45,068,510 (from NCBI)

This gene has 8 transcripts (splice variants), 227 orthologues, 19 paralogues and is associated with 110 phenotypes. Ubiquitous expression in endometrium (RPKM 3.9), prostate (RPKM 3.6) and 25 other tissues.

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]

SETBP1 Products (5)

mRNA	Protein	Name
NM_001130110.2	NP_001123582.1	SET-binding protein isoform b
NM_001379141.1	NP_001366070.1	SET-binding protein isoform a
NM_001379142.1	NP_001366071.1	SET-binding protein isoform a
NM_001410862.1	NP_001397791.1	SET-binding protein isoform c
NM_015559.3	NP_056374.2	SET-binding protein isoform a

Gene Ontology

Molecular Function
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables protein binding	IPI IPI: Inferred from physical interaction	25416956	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in nucleus	IDA IDA: Inferred from direct assay	11231286	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

Protein Preferred Names	Protein Names
SET-binding protein

SETBP1 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	SETBP1	Q9Y6X0	SUMO1P1	Homo sapiens	G2XKQ0	Y2H Prey Pooling	25416956
Intra	SETBP1	Q9Y6X0	UBE2I	Homo sapiens	Q7KZS0	Y2H Array	25416956
Intra	SETBP1	Q9Y6X0	SPANXD	Homo sapiens	Q9BXN6	Y2H Array	25416956
Intra	SETBP1	Q9Y6X0	SPANXD	Homo sapiens	Q9BXN6	Validated Y2H	25416956
Intra	SETBP1	Q9Y6X0	SPANXA1	Homo sapiens	Q9NS26	Y2H Array	25416956
Intra	SETBP1	Q9Y6X0	SPANXA1	Homo sapiens	Q9NS26	Validated Y2H	25416956
Intra	SETBP1	Q9Y6X0	SPANXA1	Homo sapiens	Q9NS26	Y2H Prey Pooling	25416956
Intra	SETBP1	Q9Y6X0	SPANXC	Homo sapiens	Q9NY87	Y2H Prey Pooling	25416956
Intra	SETBP1	Q9Y6X0	KIAA1147	Homo sapiens	Q9P1C9	Y2H Prey Pooling	25416956
Intra	SETBP1	Q9Y6X0	XAGE1A	Homo sapiens	Q9HD64	Y2H Array	25416956
Intra	SETBP1	Q9Y6X0	YAF2	Homo sapiens	Q8IY57	Validated Y2H	25416956
Intra	SETBP1	Q9Y6X0	YAF2	Homo sapiens	Q8IY57	Y2H Prey Pooling	25416956
Intra	SETBP1	Q9Y6X0	PLEKHF2	Homo sapiens	Q9H8W4	Y2H Prey Pooling	25416956

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Schinzel-Giedion Midface Retraction Syndrome	Schinzel-Giedion Syndrome Sgs Schinzel Giedion Syndrome Schinzel Giedion Midface-Retraction Syndrome SGMFS
Intellectual Developmental Disorder, Autosomal Dominant 29	MRD29 Autosomal Dominant Non-Syndromic Intellectual Disability 29 Mental Retardation, Autosomal Dominant 29 Autosomal Dominant Intellectual Developmental Disorder 29 Autosomal Dominant Mental Retardation 29 Mental Retardation, Autosomal Dominant, Type 29
Setbp1 Haploinsufficiency Disorder	Setbp1 Disorder Setbp1-Related Disorder Setbp1 Related Developmental Delay Setbp1-Related Intellectual Disability Intellectual Disability, Autosomal Dominant 29 Autosomal Dominant Intellectual Disability 29 Mental Retardation, Autosomal Dominant 29 Mrd29
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome	Intellectual Disability-Loss Of Expressive Language-Facial Dysmorphism Syndrome
Fetal Akinesia Deformation Sequence 1	Fetal Akinesia Deformation Sequence Fads Fetal Akinesia Sequence FADS1 Arthrogryposis Multiplex Congenita With Pulmonary Hypoplasia Pena-Shokeir Syndrome Type 1 Fetal Akinesia Deformation Sequence Syndrome Arthrogryposis Multiplex Congenita-Pulmonary Hypoplasia Syndrome Arthrogryposis Multiplex Congenita Pulmonary Hypoplasia Pena-Shokeir Syndrome, Type I Foetal Akinesia Deformation Sequence Syndrome Foetal Akinesia Sequence Fetal Akinesia Deformation Sequence Syndrome 1 Pena-Shokeir Syndrome, Type 1 Pena Shokeir Syndrome, Type 1 Akinesia, Fetal, Deformation Sequence Akinesia, Fetal, Deformation Sequence, Type 1 Pena-Shokeir Syndrome Type I
Juvenile Myelomonocytic Leukemia	Leukemia, Juvenile Myelomonocytic JMML Leukemia, Juvenile Myelomonocytic, Somatic Juvenile Chronic Myelomonocytic Leukemia Juvenile Chronic Myelogenous Leukemia Leukemia, Myelomonocytic, Juvenile Juvenile Myelomonocytic Leukaemia Without Mention Of Remission
Distal Arthrogryposis	Arthrogryposis Multiplex Congenita Arthrogryposis Congenital Multiple Arthrogryposis Congenital Arthromyodysplasia Fibrous Ankylosis Of Multiple Joints Guerin-Stern Syndrome Guérin-Stern Syndrome Myodystrophia Fetalis Deformans Otto Syndrome Rocher-Sheldon Syndrome Rossi Syndrome Amc Multiple Congenital Arthrogryposis Arthrogryposis Syndrome Arthrogryposis, Distal Distal Arthrogryposis Syndrome Freeman-Sheldon Syndrome Arthrogryposis, Distal, Type 2b Congenital Multiplex Arthrogryposis Amyoplasia Congenita Congenital Amyoplasia Amc - [Arthrogryposis Multiplex Congenita]
Leukemia, Chronic Myeloid	Chronic Myeloid Leukemia Chronic Myelogenous Leukemia CML Chronic Granulocytic Leukemia Leukemia, Philadelphia Chromosome-Positive, Resistant To Imatinib Chronic Myeloid Leukaemia Chronic Granulocytic Leukaemia Chronic Myelogenous Leukaemia Myeloid Leukemia, Chronic Leukemia, Chronic Myelogenous Leukemia, Chronic Myeloid, Philadelphia Chromosome Positive, Somatic Cml - Chronic Myelogenous Leukemia Cgl Chronic Myelocytic Leukemia Leukemia, Chronic Myeloid, Atypical ACML Atypical Chronic Myeloid Leukemia Bcr-Abl1 Negative Myeloid Leukemia Chronic Leukemia, Myeloid, Chronic Leukemia, Myeloid, Chronic, Atypical, Bcr-Abl Negative Cml- [Chronic Myeloid Leukaemia] Cgl - [Chronic Granulocytic Leukaemia] Chronic Myelocytic Leukaemia
Myelodysplastic Syndrome	Myelodysplastic Syndromes Myelodysplasia MDS Myelodysplastic Syndrome Included Myelodysplastic Syndrome, Susceptibility To, Included Myelodysplastic Syndrome, Somatic Myelodysplastic Syndrome, Susceptibility To
Congenital Nervous System Abnormality	Congenital Neurologic Anomaly Congenital Nervous System Disorder
Nervous System Disease	Abnormality Of The Nervous System Nervous System Diseases Nervous System Disorder
Leukemia, Acute Myeloid	Acute Myeloid Leukemia Leukemia, Acute Myelogenous Acute Myelogenous Leukemia AML Leukemia, Acute Myeloid, Susceptibility To Acute Myeloblastic Leukemia Leukemia, Acute Myeloid, Reduced Survival In, Somatic Acute Myeloid Leukaemia Leukemia, Myelocytic, Acute Therapy Related Acute Myeloid Leukemia And Myelodysplastic Syndrome Secondary Aml Acute Myelocytic Leukemia Acute Myeloid Leukemia, Somatic Leukemia, Acute Myeloid, Somatic Myeloid Leukemia, Acute, M4/M4eo Subtype, Somatic Acute Myeloblastic Leukaemia Acute Myelogenous Leukaemia Aml - Acute Myeloid Leukemia Acute Myeloid Leukemia With Cebpa Somatic Mutations Aml With Cebpa Somatic Mutations Inherited Acute Myeloid Leukemia Familial Aml Inherited Aml Pure Familial Aml Pure Familial Acute Myeloid Leukemia Secondary Acute Myeloid Leukemia Therapy-Related Aml And Myelodysplastic Syndrome Acute Myeloid Leukemia, Secondary Acute Non-Lymphoblastic Leukemia Acute Non-Lymphocytic Leukemia Acute Biphenotypic Leukemia Acute Undifferentiated Leukemia Acute Myeloblastic Leukaemia With Multilineage Dysplasia Acute Myeloid Leukaemia With Multilineage Dysplasia Without Mention Of Remission Acute Myeloid Leukaemia With Myelodysplasia-Related Features
Hydronephrosis	Stricture Of Ureteropelvic Junction With Hydronephrosis Hydronephrosis With Ureteral Stricture, Not Elsewhere Classified
Nail Disease	Nail Diseases Abnormality Of The Nail Nail Anomaly
Cerebral Atrophy
Teratoma	Teratomas
Staphyloenterotoxemia	Staphylococcal Food Poisoning Staphylococcal Toxaemia Due To Food Staphyloenterotoxicosis
Atrial Heart Septal Defect	Atrial Septal Defect Atrial Septal Defects Atrioseptal Defect Auricular Septal Defect Congenital Atrial Septal Defect Interatrial Septal Defect Interauricular Septal Defect Heart Septal Defects, Atrial Septal Defect, Atrial
Chronic Myelomonocytic Leukemia	Leukemia, Myelomonocytic, Chronic Cmml Leukemia Myelomonocytic Chronic Cmml - [Chronic Myelomonocytic Leukaemia] Chronic Myelomonocytic Leukaemia Without Mention Of Remission Chronic Monocytic Leukaemia Chronic Monocytoid Leukaemia
Interatrial Communication	Asd Atrial Septal Defect Interauricular Communication
Refractory Anemia With Excess Blasts	Raeb
Commensal Bacterial Infectious Disease
Refractory Cytopenia With Multilineage Dysplasia
Myelodysplastic/Myeloproliferative Neoplasm	Myelodysplastic-Myeloproliferative Diseases Myelodysplastic/Myeloproliferative Disease Myelodysplastic Myeloproliferative Cancer Myelodysplastic Myeloproliferative Disease Myeloproliferative/Myelodysplastic Syndromes
Lymphoma	Lymphoid Cancer Lymphomas Lymphoid Cancers Lymphoid Neoplasm Lymphoma Nos Nhl - [Non-Hodgkin Lymphoma] Non-Hodgkin Lymphoma Non-Hodgkin Lymphoma, Nos Non-Hodgkin Malignant Lymphoma Nos
Atypical Chronic Myeloid Leukemia, Bcr-Abl1 Negative	Atypical Chronic Myeloid Leukemia Atypical Chronic Myeloid Leukaemia Leukemia, Myeloid, Chronic, Atypical, Bcr-Abl Negative Acml Atypical Chronic Myeloid Leukaemia Bcr-Abl1 Negative Atypical Chronic Myeloid Leukemia Bcr-Abl1 Negative Atypical Cml Subacute Myeloid Leukemia Subacute Myelogenous Leukaemia Subacute Myeloid Leukaemia Subacute Myelosis Atypical Chronic Myeloid Leukaemia, Bcr-Abl-Negative Without Mention Of Remission Subacute Monocytic Leukaemia Without Mention Of Remission Subacute Monocytic Leukaemia
Acute Leukemia	Stem Cell Leukaemia Stem Cell Leukemia Acute Leukemias Acute Undifferentiated Leukemia Undifferentiated Leukemia Acute Leukaemia Of Unspecified Cell Type Without Mention Of Remission Blast Cell Leukaemia Blast Leukaemia Blastic Leukaemia Undifferentiated Leukaemia
Developmental And Epileptic Encephalopathy 60	DEE60 Epileptic Encephalopathy, Early Infantile, 60 Eiee60 Developmental And Epileptic Encephalopathy, 60 Early Infantile Epileptic Encephalopathy 60
Chronic Neutrophilic Leukemia	Cnl Leukemia Neutrophilic Chronic
Myeloid Leukemia	Myeloid Leukaemia Leukaemia Myelogenous Leukemia Myelogenous Myeloid Granulocytic Leukaemia Myeloid Granulocytic Leukemia Non-Lymphocytic Leukemia Leukemia, Myeloid Granulocytic Leukaemia Myelogenous Leukaemia Myeloid Leukaemia, Unspecified, Without Mention Of Remission
Ritter'S Disease	Staphylococcal Scalded Skin Syndrome Pemphigus Neonatorum Ritter Disease Dermatitis Exfoliativa Neonatorum Scalded Skin Syndrome Toxic Epidermal Necrolysis, Subcorneal Type Generalized Exfoliative Disease Ssss Ssss - [Staphylococcal Scalded Skin Syndrome]
Chronic Leukemia	Adult Chronic Leukemia Cll Cml
Pyomyositis	Tropical Pyomyositis Myositis Tropicans Myositis Purulenta Tropica Pm Suppurative Myositis Purulent Myositis
Myelofibrosis	Primary Myelofibrosis Agnogenic Myeloid Metaplasia Idiopathic Myelofibrosis Myeloid Metaplasia Myelofibrosis With Myeloid Metaplasia Osteomyelofibrosis Megakaryocytic Myelosclerosis Myelosclerosis Chronic Idiopathic Myelofibrosis Myelofibrosis, Idiopathic Myelofibrosis With Myeloid Metaplasia, Somatic Myelofibrosis, Somatic Aleukemic Myelosis Bone Marrow Fibrosis MYELOF MMM Agnogenic Myeloid Metaplasia With Myelofibrosis Ammm Myelosclerosis With Myeloid Metaplasia Myelofibrosis Nos
Postaxial Acrofacial Dysostosis	Miller Syndrome POADS Genee-Wiedemann Syndrome Postaxial Acrodysostosis Genee-Wiedemann Acrofacial Dysostosis Acrofacial Dysostosis, Genee-Wiedmann Type Mandibulfacial Dysostosis With Postaxial Limb Anomalies Gwafd Poads Syndrome Postaxial Acrofacial Dysostosis Syndrome Wildervanck-Smith Syndrome Acrofacial Dysostosis, Genee-Wiedemann Type Mandibulofacial Dysostosis With Postaxial Limb Anomalies Genée-Wiedemann Syndrome Chromosome 11p Deletion Syndrome
Immunodeficiency 21	Monocytopenia And Mycobacterial Infection Syndrome Monomac Gata2 Deficiency Monocytopenia With Susceptibility To Infections Dcml IMD21 Dendritic Cell, Monocyte, B Lymphocyte, And Natural Killer Lymphocyte Deficiency Monocytopenia With Susceptibility To Mycobacterial, Fungal, And Papillomavirus Infections And Myelodysplasia Combined Immunodeficiency With Susceptibility To Mycobacterial, Viral, And Fungal Infections Combined Immunodeficiency With Susceptibility To Mycobacterial, Viral And Fungal Infections Dendritic Cell, Monocyte, B And Nk Lymphoid Deficiency Monocyte-B-Natural Killer-Dendritic Cell Deficiency Syndrome Monocytopenia With Mycobacterial, Fungal, And Papillomavirus Infections And Myelodysplasia Combined Immunodeficiency With Mycobacterial, Viral, And Fungal Infections Monocyte - B - Natural Killer - Dendritic Cell Deficiency Combined Immunodeficiency With Susceptibility To Mycobacterial Viral And Fungal Infections Dendritic Cell Monocyte Lymphocyte B And Natural Killer Lymphocyte Deficiency Monocytopenia With Susceptibility To Mycobacterial Fungal And Papillomavirus Infections And Myelodysplasia
Scarlet Fever	Scarlatina Scarlatina Nos
Granulomatous Disease, Chronic, X-Linked	CGDX Chronic Granulomatous Disease, X-Linked X-Linked Chronic Granulomatous Disease Cgd Cytochrome B-Negative Granulomatous Disease, Chronic, X-Linked Cdgx X-Linked Chronic Cytochrome B-Negative Granulomatous Disease Chronic Granulomatous Disease Cytochrome B-Negative X-Linked Chronic Granulomatous Disease Cytochrome B-Positive X-Linked Granulomatous Disease, Chronic, X-Linked, Variant
Chronic Eosinophilic Leukemia	Pdgfra-Associated Chronic Eosinophilic Leukemia
Endocardium Disease
Developmental And Epileptic Encephalopathy 11	Epileptic Encephalopathy, Early Infantile, 11 DEE11 Eiee11 Developmental And Epileptic Encephalopathy, 11 Early Infantile Epileptic Encephalopathy 11 Encephalopathy, Developmental And Epileptic, Type 11
Essential Thrombocythemia	Essential Thrombocytosis Familial Thrombocytosis Hemorrhagic Thrombocythemia Hereditary Thrombocythemia Primary Thrombocytosis Idiopathic Thrombocythemia Primary Thrombocythemia Thrombocythemia, Essential Essential Thrombocythaemia Et Familial Thrombocythemia Thrombocythemia Essential
Rasopathy	Ras/Mitogen-Activated Protein Kinase Syndrome
West Syndrome	Infantile Spasms Infantile Spasms Syndrome Infantile Spasm X-Linked Infantile Spasm Syndrome X-Linked Infantile Spasms Epileptic Encephalopathy, Early Infantile, 1 Is Tonic Spasms With Clustering, Arrest Of Psychomotor Development And Hypsarrhythmia On Eeg West'S Syndrome Spasms, Infantile Is -[Infantile Spasm] Salaam Spasm Salaam Tic
Noonan Syndrome 1	Noonan Syndrome NS1 Male Turner Syndrome Female Pseudo-Turner Syndrome Turner Phenotype With Normal Karyotype Noonan Syndrome With Pigmented Villonodular Synovitis Turner'S Phenotype, Karyotype Normal Familial Turner Syndrome Noonan'S Syndrome Noonan-Ehmke Syndrome Ns Pseudo-Ullrich-Turner Syndrome Turner Syndrome In Female With X Chromosome Turner-Like Syndrome Ullrich-Noonan Syndrome Noonan-Like/Multiple Giant Cell Lesion Syndrome Noonan Syndrome-Like Disorder With Multiple Giant Cell Lesions Pterygium Colli Syndrome Noonan Syndrome, Type 1 Turner Syndrome, Male

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (4)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-113902	(2-(β-Piperidinoethyl)-9-hydroxyellipticinium chloride	Inhibitor	/	Unkown
HY-RS12739	SETBP1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS21929	Setbp1 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS28445	Setbp1 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Bos taurus	SETBP1	VGNC	VGNC:34491
Canis familiaris	SETBP1	VGNC	VGNC:46051
Rattus norvegicus	SETBP1	RGD	RGD:1306229
Felis catus	SETBP1	VGNC	VGNC:65038
Mus musculus	SETBP1	MGD	MGI:1933199
Macaca mulatta	SETBP1	VGNC	VGNC:97823
Others	SETBP1	NCBI