SF3B4 - splicing factor 3b subunit 4 Gene

Homo sapiens

Also known as AFD1; Hsh49; SAP49; SF3b49

Gene ID: 10262 | Gene type: protein coding

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	Reference	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	Reference	Source
involved in mRNA splicing, via spliceosome	IDA IDA: Inferred from direct assay	27720643	GOA

Cellular Component GO Annotation	Evidence	Reference	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

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

Bioactive Molecules (1)

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

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