SF3B4 - splicing factor 3b subunit 4 Gene

Also Known as AFD1; Hsh49; SAP49; SF3b49

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 10262

About SF3B4

Cytogenetic location: 1q21.2 Genomic coordinates (GRCh38): 1:149,923,317-149,927,803 (from NCBI)

This gene has 2 transcripts (splice variants), 216 orthologues, 24 paralogues and is associated with 4 phenotypes. Ubiquitous expression in testis (RPKM 26.0), bone marrow (RPKM 20.1) and 25 other tissues.

Summary

This gene encodes one of four subunits of the splicing factor 3B. The protein encoded by this gene cross-links to a region in the pre-mRNA immediately upstream of the branchpoint sequence in pre-mRNA in the prespliceosomal complex A. It also may be involved in the assembly of the B, C and E spliceosomal complexes. In addition to RNA-binding activity, this protein interacts directly and highly specifically with subunit 2 of the splicing factor 3B. This protein contains two N-terminal RNA-recognition motifs (RRMs), consistent with the observation that it binds directly to pre-mRNA. [provided by RefSeq, Jul 2008]

SF3B4 Products (1)

mRNA	Protein	Name
NM_005850.5	NP_005841.1	splicing factor 3B subunit 4

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables protein binding	IPI IPI: Inferred from physical interaction	16189514	GOA
enables splicing factor binding	IDA IDA: Inferred from direct assay	27720643	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in mRNA splicing, via spliceosome	IDA IDA: Inferred from direct assay	27720643	GOA

Cellular Component GO Annotation	Evidence	References	Source
part of U12-type spliceosomal complex	IDA IDA: Inferred from direct assay	15146077	GOA
part of U2-type precatalytic spliceosome	IDA IDA: Inferred from direct assay	29360106	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
located in nucleus	IDA IDA: Inferred from direct assay	27720643	GOA
part of spliceosomal complex	IDA IDA: Inferred from direct assay	9731529	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

SF3B4 Protein Structure

RRM_1

0
100
200
300
400
424 a.a.

Protein Preferred Names	Protein Names
splicing factor 3B subunit 4	SAP 49

SF3B4 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	SF3B4	Q15427	HNRNPUL1	Homo sapiens	Q9BUJ2	Validated Y2H	25416956
Intra	SF3B4	Q15427	PPP1R16B	Homo sapiens	Q96T49	Y2H Array	31515488
Intra	SF3B4	Q15427	PRMT9	Homo sapiens	Q6P2P2	Anti Tag CoIP	35271311
Intra	SF3B4	Q15427	TCAF1	Homo sapiens	Q9Y4C2-2	Validated Y2H	32296183
Intra	SF3B4	Q15427	ZNF48	Homo sapiens	Q96MX3	Validated Y2H	32296183
Intra	SF3B4	Q15427	FRK	Homo sapiens	P42685	Y2H Prey Pooling	25416956
Intra	SF3B4	Q15427	FRK	Homo sapiens	P42685	Y2H	21516116
Intra	SF3B4	Q15427	UBASH3A	Homo sapiens	P57075	Validated Y2H	25416956
Intra	SF3B4	Q15427	UBASH3A	Homo sapiens	P57075	Y2H Array	25416956
Intra	SF3B4	Q15427	UBASH3A	Homo sapiens	P57075	Y2H Prey Pooling	25416956
Intra	SF3B4	Q15427	TFG	Homo sapiens	Q92734	Validated Y2H	32296183
Intra	SF3B4	Q15427	TRAF4	Homo sapiens	Q9BUZ4	Validated Y2H	32296183
Intra	SF3B4	Q15427	RPP25	Homo sapiens	Q9BUL9	Validated Y2H	32296183
Intra	SF3B4	Q15427	RBM39	Homo sapiens	Q14498	Validated Y2H	25416956
Intra	SF3B4	Q15427	RBM39	Homo sapiens	Q14498	Y2H Array	25416956
Intra	SF3B4	Q15427	RBM39	Homo sapiens	Q14498	Y2H Prey Pooling	25416956
Intra	SF3B4	Q15427	GRB2	Homo sapiens	P62993	Y2H	21988832
Intra	SF3B4	Q15427	BAIAP2	Homo sapiens	Q9UQB8	Validated Y2H	25416956
Intra	SF3B4	Q15427	BAIAP2	Homo sapiens	Q9UQB8	Y2H Prey Pooling	25416956
Intra	SF3B4	Q15427	BAIAP2	Homo sapiens	Q9UQB8	Y2H Array	25416956
Intra	SF3B4	Q15427	PRPF8	Homo sapiens	Q6P2Q9	Y2H	22365833
Intra	SF3B4	Q15427	PRPF8	Homo sapiens	Q6P2Q9	Anti Tag CoIP	22365833
Intra	SF3B4	Q15427	CWF19L2	Homo sapiens	Q2TBE0	Validated Y2H	32296183
Intra	SF3B4	Q15427	CWF19L2	Homo sapiens	Q2TBE0	Y2H Array	25416956
Intra	SF3B4	Q15427	ZCCHC10	Homo sapiens	Q8TBK6	Y2H Array	25416956
Intra	SF3B4	Q15427	ZCCHC10	Homo sapiens	Q8TBK6	Validated Y2H	25416956
Intra	SF3B4	Q15427	MAPK9	Homo sapiens	P45984	Y2H Array	25416956
Intra	SF3B4	Q15427	MAPK9	Homo sapiens	P45984	Validated Y2H	25416956
Intra	SF3B4	Q15427	NCK2	Homo sapiens	O43639	Validated Y2H	25416956
Intra	SF3B4	Q15427	RBM10	Homo sapiens	P98175	Anti Tag CoIP	22365833
Intra	SF3B4	Q15427	HSPB7	Homo sapiens	Q9UBY9	Y2H Prey Pooling	25416956
Intra	SF3B4	Q15427	HSPB7	Homo sapiens	Q9UBY9	Y2H Array	25416956
Intra	SF3B4	Q15427	RAMAC	Homo sapiens	Q9BTL3	Validated Y2H	32296183
Intra	SF3B4	Q15427	SS18L1	Homo sapiens	O75177	Y2H Prey Pooling	25416956
Intra	SF3B4	Q15427	BAG3	Homo sapiens	O95817	Validated Y2H	25416956
Intra	SF3B4	Q15427	BAG3	Homo sapiens	O95817	Y2H Array	25416956
Intra	SF3B4	Q15427	BAG3	Homo sapiens	O95817	Y2H Prey Pooling	25416956
Intra	SF3B4	Q15427	SEC24D	Homo sapiens	O94855	Validated Y2H	25416956
Intra	SF3B4	Q15427	SEC24D	Homo sapiens	O94855	Y2H Array	25416956
Intra	SF3B4	Q15427	SF3B2	Homo sapiens	Q13435	Anti Tag CoIP	25737013
Intra	SF3B4	Q15427	SF3B2	Homo sapiens	Q13435	Y2H	22365833
Intra	SF3B4	Q15427	SF3B2	Homo sapiens	Q13435	Anti Tag CoIP	35271311
Intra	SF3B4	Q15427	SF3B2	Homo sapiens	Q13435	Y2H Pooling	16189514
Intra	SF3B4	Q15427	SF3B2	Homo sapiens	Q13435	Pull Down	27905398
Intra	SF3B4	Q15427	METTL17	Homo sapiens	Q9H7H0	Validated Y2H	25416956
Intra	SF3B4	Q15427	METTL17	Homo sapiens	Q9H7H0	Y2H Prey Pooling	25416956
Intra	SF3B4	Q15427	METTL17	Homo sapiens	Q9H7H0	Y2H Array	29892012
Intra	SF3B4	Q15427	TCAF1	Homo sapiens	Q9Y4C2	Y2H Prey Pooling	25416956
Intra	SF3B4	Q15427	TCAF1	Homo sapiens	Q9Y4C2	Y2H	21516116
Intra	SF3B4	Q15427	WDR83	Homo sapiens	Q9BRX9	Y2H	22365833

Cross: Cross-species interaction Intra: Intraspecies interaction

SF3B4 Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P811108	SAP49 Antibody	WB, IHC-P	Human, Mouse, Rat

Related Diseases

Diseases	Alias
Acrofacial Dysostosis 1, Nager Type	Nager Syndrome Nager Acrofacial Dysostosis AFD1 Preaxial Acrofacial Dysostosis Mandibulofacial Dysostosis, Treacher Collins Type, With Limb Anomalies Afd, Nager Type Nager Acrofacial Dysostosis Syndrome Nafd Acrofacial Dysostosis, Nager Type Afd Preaxial Manibulofacial Dysostosis Split Hand Deformity-Mandibulofacial Dysostosis Preaxial Mandibulofacial Dysostosis Mandibulofacial Dysostosis With Preaxial Limb Anomalies Preaxial Acrodysostosis Afd Nager Type Mandibulofacial Dysostosis Treacher Collins Type With Limb Anomalies
Acrofacial Dysostosis Syndrome Of Rodriguez	Acrofacial Dysostosis Rodriguez Type Rodriguez Lethal Acrofacial Dysostosis Syndrome Acrofacial Dysostosis, Syndrome Of Rodriguez Acrofacial Dysostosis, Rodriguez Type
Hereditary Hearing Loss And Deafness
Acrofacial Dysostosis
Radioulnar Synostosis	Radio-Ulnar Synostosis Type 1
Dysostosis	Dysostoses
Phocomelia	Phocomelia Syndrome
Humeroradial Synostosis	Humero-Radial Fusion Humero-Radial Synostosis Ramer Ladda Syndrome
Mandibulofacial Dysostosis, Guion-Almeida Type	Mandibulofacial Dysostosis With Microcephaly Mandibulofacial Dysostosis-Microcephaly Syndrome MFDGA MFDM Mfdm Syndrome Growth And Mental Retardation, Mandibulofacial Dysostosis, Microcephaly, And Cleft Palate Growth Delay - Intellectual Disability - Mandibulofacial Dysostosis - Microcephaly - Cleft Palate Growth Delay-Intellectual Disability-Mandibulofacial Dysostosis-Microcephaly-Cleft Palate Syndrome Dysostosis, Mandibulofacial, Guion-Almeida Type
Burn-Mckeown Syndrome	Choanal Atresia-Hearing Loss-Cardiac Defects-Craniofacial Dysmorphism Syndrome Oculootofacial Dysplasia BMKS Oofd Bilateral Choanal Atresia, Cardiac Defects, Deafness, And Dysmorphic Appearance Choanal Atresia - Deafness - Cardiac Defects - Dysmorphism Syndrome Choanal Atresia Deafness Cardiac Defects Dysmorphism Oculo-Oto-Facial Dysplasia
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
Synostosis
Cerebrocostomandibular Syndrome	Cerebro-Costo-Mandibular Syndrome CCMS Rib Gap Defects With Micrognathia Ccm Syndrome
Acromesomelic Dysplasia 2b	Fibular Hypoplasia And Complex Brachydactyly Du Pan Syndrome AMD2B Dupans Acromesomelic Dysplasia-2b Fibular Aplasia-Complex Brachydactyly Syndrome
Seckel Syndrome 1	SCKL1 Nanocephalic Dwarfism Microcephalic Primordial Dwarfism I Seckel-Type Dwarfism Bird-Headed Dwarfism Sckl Seckel Syndrome, Type 1 Seckel Syndrome
Treacher Collins Syndrome 1	Treacher Collins Syndrome Mandibulofacial Dysostosis Treacher Collins-Franceschetti Syndrome Tcof Tcs Mfd1 Franceschetti-Klein Syndrome TCS1 Franceschetti Syndrome Franceschetti-Zwahlen-Klein Syndrome Zygoauromandibular Dysplasia Treacher-Collins Syndrome Mandibulofacial Dysostosis Without Limb Anomalies Bilateral And Symmetric Oto-Mandibular Dysplasia
Charcot-Marie-Tooth Disease X-Linked Recessive 4	Cmt4x Cmtx4 Cowchock Syndrome X-Linked Charcot-Marie-Tooth Disease Type 4 Axonal Motor Sensory Neuropathy With Deafness And Mental Retardation Charcot-Marie-Tooth Disease With Deafness And Mental Retardation Nadmr Namsd
Ehlers-Danlos Syndrome, Classic Type, 1	Ehlers-Danlos Syndrome, Type I EDSCL1 Ehlers-Danlos Syndrome Classic Type 1 Ehlers-Danlos Syndrome Type 1 Ehlers-Danlos Syndrome, Type I, Formerly Eds1, Formerly Ehlers-Danlos Syndrome, Severe Classic Type, Formerly Eds I, Formerly Ehlers-Danlos Syndrome, Gravis Type, Formerly Ehlers-Danlos Syndrome, Type 1 Type I Ehlers-Danlos Syndrome Eds1 Eds I Ehlers-Danlos Syndrome, Gravis Type Ehlers-Danlos Syndrome, Severe Classic Type Ehlers-Danlos Syndrome 1 Ehlers-Danlos, Classic Syndrome, Type 1 Ehlers-Danlos Syndrome Type 2
Orofacial Cleft	Cleft, Orofacial

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 (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS12763	SF3B4 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Felis catus	SF3B4	VGNC	VGNC:65058
Bos taurus	SF3B4	VGNC	VGNC:55679
Canis familiaris	SF3B4	VGNC	VGNC:46072
Rattus norvegicus	SF3B4	RGD	RGD:1309667
Mus musculus	SF3B4	MGD	MGI:109580
Macaca mulatta	SF3B4	VGNC	VGNC:77182
Others	SF3B4	NCBI