SF3B1 - splicing factor 3b subunit 1 Gene

Also Known as MDS; PRP10; Hsh155; PRPF10; SAP155; SF3b155

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 23451

About SF3B1

Cytogenetic location: 2q33.1 Genomic coordinates (GRCh38): 2:197,389,784-197,435,093 (from NCBI)

This gene has 14 transcripts (splice variants), 213 orthologues and is associated with 138 phenotypes. Ubiquitous expression in lymph node (RPKM 87.0), bone marrow (RPKM 86.7) and 25 other tissues.

Summary

This gene encodes subunit 1 of the splicing factor 3b protein complex. Splicing factor 3b, together with splicing factor 3a and a 12S RNA unit, forms the U2 small nuclear ribonucleoproteins complex (U2 snRNP). The splicing factor 3b/3a complex binds pre-mRNA upstream of the intron's branch site in a sequence independent manner and may anchor the U2 snRNP to the pre-mRNA. Splicing factor 3b is also a component of the minor U12-type spliceosome. The carboxy-terminal two-thirds of subunit 1 have 22 non-identical, tandem HEAT repeats that form rod-like, helical structures. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]

SF3B1 Products (3)

mRNA	Protein	Name
NM_001005526.2	NP_001005526.1	splicing factor 3B subunit 1 isoform 2
NM_001308824.1	NP_001295753.1	splicing factor 3B subunit 1 isoform 3
NM_012433.4	NP_036565.2	splicing factor 3B subunit 1 isoform 1

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Verweise	Source
enables RNA binding	IDA IDA: Inferred from direct assay	27720643	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	16432215	GOA
enables splicing factor binding	IDA IDA: Inferred from direct assay	27720643	GOA
enables splicing factor binding	IPI IPI: Inferred from physical interaction	16376933	GOA

Biological Process GO Annotation	Evidence	Verweise	Source
acts upstream of or within mRNA splicing, via spliceosome	IDA IDA: Inferred from direct assay	11252167	GOA
involved in mRNA splicing, via spliceosome	IDA IDA: Inferred from direct assay	27720643	GOA
involved in positive regulation of transcription by RNA polymerase III	IDA IDA: Inferred from direct assay	16603771	GOA

Cellular Component GO Annotation	Evidence	Verweise	Source
part of B-WICH complex	IDA IDA: Inferred from direct assay	16603771	GOA
part of U11/U12 snRNP	IDA IDA: Inferred from direct assay	11252167	GOA
part of U12-type spliceosomal complex	IDA IDA: Inferred from direct assay	15146077	GOA
part of U2 snRNP	IDA IDA: Inferred from direct assay	11252167	GOA
part of U2-type precatalytic spliceosome	IDA IDA: Inferred from direct assay	28781166	GOA
part of U2-type spliceosomal complex	IDA IDA: Inferred from direct assay	32494006	GOA
part of U2-type spliceosomal complex	IPI IPI: Inferred from physical interaction	27720643	GOA
part of catalytic step 2 spliceosome	IDA IDA: Inferred from direct assay	11991638	GOA
located in nucleus	IDA IDA: Inferred from direct assay	18559850	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

SF3B1 Protein Structure

SF3b1

0
300
600
900
1200
1304 a.a.

Protein Preferred Names	Protein Names
splicing factor 3B subunit 1	pre-mRNA processing 10

SF3B1 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Verweise
Intra	SF3B1	O75533	CACNA1C	Homo sapiens	Q13936	Anti Bait CoIP	37207277
Intra	SF3B1	O75533	SF3B6	Homo sapiens	Q9Y3B4	Y2H	22365833
Intra	SF3B1	O75533	SF3B6	Homo sapiens	Q9Y3B4	Anti Tag CoIP	35271311
Intra	SF3B1	O75533	SF3A2	Homo sapiens	Q15428	Anti Tag CoIP	35271311
Intra	SF3B1	O75533	RBM17	Homo sapiens	Q96I25	Anti Tag CoIP	35271311

Cross: Cross-species interaction Intra: Intraspecies interaction

SF3B1 Antibodies

Art. -Nr.	Produktname	Anwendung	Reactivity
HY-P82511	SF3B1 Antibody (YA2256)	WB, IHC-P, ICC/IF, FC	Human, Mouse, Rat

Related Diseases

Diseases	Alias
Myelodysplastic Syndrome	Myelodysplastic Syndromes Myelodysplasia MDS Myelodysplastic Syndrome Included Myelodysplastic Syndrome, Susceptibility To, Included Myelodysplastic Syndrome, Somatic Myelodysplastic Syndrome, Susceptibility To
Autosomal Recessive Pyridoxine-Refractory Sideroblastic Anemia 2	Refractory Anemia With Ringed Sideroblasts Acquired Idiopathic Sideroblastic Anemia Aisa Primary Acquired Sideroblastic Anemia Autosomal Recessive Pyridoxine-Refractory Sideroblastic Anaemia 2 Pyridoxine-Refractory Autosomal Recessive Sideroblastic Anaemia Pyridoxine-Refractory Autosomal Recessive Sideroblastic Anemia Sideroblastic Anemia Pyridoxine-Refractory Autosomal Recessive Pyridoxine Refractory Sideroblastic Anemia
Refractory Cytopenia With Multilineage Dysplasia
Melanoma, Uveal	Uveal Melanoma Choroidal Melanoma Melanoma Of Uvea Iris Melanoma Malignant Melanoma Of Choroid Malignant Melanoma Of Iris
Ocular Melanoma	Intraocular Melanoma Uveal Melanoma Eye Melanoma Melanoma Of Eye Melanoma Of The Uvea Malignant Melanoma Of Eye
Refractory Anemia	Anemia Refractory Refractory Anemias Refractory Anemia, Without Ringed Sideroblasts, Without Excess Blasts Refractory Anaemia Without Sideroblasts Refractory Anaemia With Sideroblasts Acquired Idiopathic Sideroblastic Anaemia Primary Acquired Sideroblastic Anaemia Refractory Sideroblastic Anaemia Refractory Anaemia With Excess Blasts Raeb - [Refractory Anaemia With Excess Blasts] Nos Raeb - [Refractory Anaemia With Excess Blasts] Rars-T [Refractory Anaemia With Ringed Sideroblasts Associated With Marked Thrombocytosis]
Adenoid Cystic Carcinoma	Adenocystic Carcinoma Cribriform Carcinoma Cylindroma Carcinoma Adenoid Cystic Carcinoma, Adenoid Cystic Adenoid Cystic Carcinoma Of Salivary Gland Eccrine Dermal Cylindroma Carcinoma, Cribriform
Renal Cell Carcinoma, Papillary, 1	Papillary Renal Cell Carcinoma Hereditary Papillary Renal Cell Carcinoma Papillary Renal Cell Carcinoma, Sporadic Papillary Renal Cell Adenocarcinoma RCCP RCCP1 Renal Cell Carcinoma, Papillary Renal Cell Carcinoma, Papillary, 1, Familial And Somatic Chromophil Carcinoma Of Kidney Papillary Kidney Carcinoma Sporadic Papillary Renal Cell Carcinoma Chromophil Renal Cell Carcinoma Papillary Renal Carcinoma, Malignant - Papillary Renal Cell Carcinoma, Bilateral - Papillary Renal Cell Carcinoma, Familial - Papillary Renal Cell Carcinoma, Multiple - Papillary Renal Cell Carcinoma, Sporadic - Renal Adenocarcinoma Chromophil Rcc Hprcc Renal Cell Carcinoma Papillary Chromophilic Renal Cell Carcinoma Prcc Carcinoma, Renal Cell, Papillary, Type 1 Type 1 Papillary Renal Cell Carcinoma Renal Cell Carcinoma Hereditary Papillary Renal Carcinoma
Skin Melanoma	Cutaneous Melanoma Malignant Ear Melanoma Malignant Lip Melanoma Malignant Lower Limb Melanoma Malignant Melanoma Of Ear And/Or External Auricular Canal Malignant Melanoma Of Skin Of Lower Limb Malignant Melanoma Of Skin Of Trunk Except Scrotum Malignant Melanoma Of Skin Of Upper Limb Malignant Neck Melanoma Malignant Scalp Melanoma Malignant Trunk Melanoma Malignant Upper Limb Melanoma Melanoma, Cutaneous Malignant Melanoma Malignant Melanoma Of Skin Melanoma Nos Malignant Mole, Meaning Melanoma Of Unspecified Site Melanoma Of Unspecified Site Cutaneous Malignant Melanoma Mm - [Malignant Melanoma]
Bladder Urothelial Carcinoma	Bladder Transitional Cell Carcinoma Transitional Cell Carcinoma Of Bladder Transitional Cell Carcinoma Of The Bladder Urinary Bladder Urothelial Carcinoma Urothelial Bladder Carcinoma Carcinoma Transitional Cell Bladder Tcc - [Transitional Cell Carcinoma] Of Bladder
Leukemia, Chronic Lymphocytic	Chronic Lymphocytic Leukemia B-Cell Chronic Lymphocytic Leukemia CLL B-Cell Chronic Lymphoid Leukemia Chronic Lymphatic Leukemia Chronic Lymphocytic Leukaemia Lymphoplasmacytic Leukemia Small Lymphocytic Lymphoma Leukemia, Chronic Lymphatic B-Cell Chronic Lymphocytic Leukaemia Chronic Lymphatic Leukaemia Lymphoplasmacytic Leukaemia B Cell Chronic Lymphocytic Leukemia Chronic B-Cell Lymphocytic Leukemia Leukemia, Lymphocytic, Chronic B-Cll Chronic Lymphoid Leukemia Leukemia Lymphocytic Chronic Lymphoma Small Lymphocytic Leukemia, Lymphocytic, Chronic, B-Cell
Renal Cell Carcinoma, Nonpapillary	Renal Cell Carcinoma RCC Nonpapillary Renal Cell Carcinoma Clear Cell Renal Cell Carcinoma Hypernephroma Adenocarcinoma Of Kidney Renal Carcinoma, Chromophobe, Somatic Clear Cell Carcinoma Of Kidney Clear-Cell Metastatic Renal Cell Carcinoma Clear Cell Renal Carcinoma Renal Cell Carcinoma, Somatic Conventional Renal Cell Carcinoma Conventional Renal Cell Carcinoma Renal Clear Cell Carcinoma Ccrcc Hereditary Clear Cell Renal Cell Carcinoma Carcinoma, Renal Cell Renal Cell Carcinoma, Clear Cell, Somatic Renal Cell Carcinoma, Clear Cell Clear Cell Kidney Carcinoma Clear Cell Rcc Cystic-Multilocular Variant Clear Cell Renal Cell Adenocarcinoma Hereditary Clear Cell Renal Cell Adenocarcinoma Common Renal Cell Carcinoma Crcc Renal Cell Carcinoma Non-Papillary Carcinoma Renal Cell Renal Cell Cancer Carcinoma, Renal Cell, Nonpapillary
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
Breast Cancer	Breast Carcinoma Male Breast Cancer Breast Cancer, Familial Malignant Neoplasm Of Breast Breast Cancer, Susceptibility To Breast Cancer, Early-Onset Malignant Tumor Of Breast Carcinoma Of Male Breast Breast Cancer, Invasive Ductal Breast Cancer, Protection Against Breast Cancer, Somatic Breast Cancer, Male Breast Cancer, Lobular, Somatic Breast Tumor Mammary Cancer Mammary Tumor Malignant Neoplasm Of Male Breast Mammary Carcinoma Male Breast Carcinoma Familial Cancer Of Breast Invasive Ductal Breast Carcinoma Breast Cancer Susceptibility Breast Cancer, Male, Susceptibility To Breast Cancer, Early-Onset, Susceptibility To Malignant Tumor Of The Breast Mammary Neoplasm Primary Breast Cancer Neoplasm Of Male Breast Carcinoma Of Breast Breast Cancer In Men Familial Breast Cancer Cancer Of Breast BC Breast Cancer Familial Breast Cancer Familial Male Breast Cancer, Familial Male Breast Male Carcinoma Breast Neoplasms Breast Neoplasms, Male Mammary Tumors Mammary Carcinomas Cancer, Breast Cancer, Breast, Susceptibility Invasive Breast Ductal Carcinoma Breast Neoplasm Susceptibility To Breast Cancer Mammary Neoplasms Animal Mammary Neoplasms Primary Malignant Neoplasm Of Breast Infiltrating Ductal Carcinoma Of Breast Infiltrating Duct Carcinoma Of Unspecified Site Infiltrating Ductular Carcinoma Of Unspecified Site Invasive Breast Carcinoma Of No Special Type Microinvasive Carcinoma Of Breast Carcinoma With Apocrine Differentiation
Thrombocytosis	Thrombocythaemia
Malignant Skin Fibrous Histiocytoma	Vaginal Melanoma Malignant Fibrous Histiocytoma Of Skin
Malignant Dermis Tumor	Malignant Tumor Of Dermis Malignant Dermis Tumour Malignant Neoplasm Of Dermis Malignant Tumour Of Dermis
Meningeal Melanoma	Melanoma Of The Leptomeninges Leptomeningeal Melanoma
Malignant Leptomeningeal Tumor	Malignant Leptomeningeal Tumour Malignant Tumor Of Leptomeninges Malignant Tumour Of Leptomeninges Malignant Leptomeningeal Neoplasm
Hepatocellular Carcinoma	Liver Cancer Primary Liver Cancer HCC Hepatoma Malignant Neoplasm Of Liver Liver Neoplasms Cancer, Hepatocellular Liver Cell Carcinoma Lcc Hepatoblastoma, Somatic Hepatic Cancer Primary Malignant Neoplasm Of Liver Rare Tumor Of Liver And Intrahepatic Biliary Tract Hepatocellular Carcinoma, Somatic Hepatocellular Carcinoma, Childhood Type, Somatic Hepatocellular Cancer, Somatic Ca Liver - Primary Hepatic Neoplasm Malignant Hepato-Biliary Neoplasm Malignant Neoplasm Of Liver, Not Specified As Primary Or Secondary Malignant Neoplasm Of Liver, Primary Malignant Tumor Of Liver Neoplasm Of Liver Non-Resectable Primary Hepatic Malignant Neoplasm Resectable Malignant Neoplasm Of Liver Resectable Malignant Neoplasm Of The Liver Primary Liver Carcinoma Primary Malignant Liver Neoplasm Primary Cancer Of Liver Primary Tumor Of The Liver Rare Tumor Of Liver And Ibt Hepatocellular Cancer Neoplasm Of The Liver Carcinoma, Hepatocellular Hepatomas Liver Neoplasm Liver Carcinoma Liver And Intrahepatic Biliary Tract Carcinoma Malignant Hepatobiliary Neoplasm Adult Primary Hepatocellular Carcinoma Hepatoblastoma Carcinoma Of Liver Malignant Liver Tumour Malignant Hepatic Tumour
Melanoma	Malignant Melanoma Cutaneous Melanoma Naevocarcinoma Malignant Melanomas
Trichothiodystrophy	Ttd Amish Brittle Hair Syndrome Bids Syndrome Brittle Hair-Intellectual Impairment-Decreased Fertility-Short Stature Syndrome Ibids Pibids Trichothiodystrophy Syndromes
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
Uveal Disease	Uveal Diseases
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

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

Clinical Phase
Pre-clinical Phase

Clinical Phase

Bioactive Molecules (1)

Art. -Nr.	Produktname	Wirkung	Reinheit	Phase
HY-111517	H3B-8800	Inhibitor	98.85%	Phase 1

Pre-clinical Phase

Bioactive Molecules (10)

Art. -Nr.	Produktname	Wirkung	Reinheit	Rare Diseases
HY-16399	Pladienolide B	Inhibitor	99.20%	Unkown
HY-16466	Spliceostatin A		96.64%	Unkown
HY-141881	PROTAC-O4I2	Degrader	99.56%	Unkown
HY-168534	WX-02-23	Modulator	99.88%	Unkown
HY-18772	O4I2	Ligand	99.18%	Unkown
HY-181421	WX-02-43	Ligand	99.49%	Unkown
HY-15867	Meayamycin B	Inhibitor	/	Unkown
HY-122637	Sudemycin K	Inhibitor	/	Unkown
HY-133924	18-Deoxyherboxidiene	Inhibitor	/	Unkown
HY-120907	Sudemycin E	Ligand	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	SF3B1	MGD	MGI:1932339
Macaca mulatta	SF3B1	VGNC	VGNC:77179
Rattus norvegicus	SF3B1	RGD	RGD:620148
Felis catus	SF3B1	VGNC	VGNC:65055
Bos taurus	SF3B1	VGNC	VGNC:34509
Canis familiaris	SF3B1	VGNC	VGNC:46069
Others	SF3B1	NCBI