2. Gene
  3. SF3B4 - splicing factor 3b subunit 4 Gene

SF3B4 - splicing factor 3b subunit 4 Gene

  • Gene
  • Protein
  • Disease
  • Agent
  • Ortholog
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

RRM_1: RNA recognition motif. (a.k.a. RRM, RBD, or RNP domain) (15 - 85)

RRM_1

RRM_1: RNA recognition motif. (a.k.a. RRM, RBD, or RNP domain) (102 - 173)

  • 0
  • 100
  • 200
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  • 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 Reference
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

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