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

SF3B4 - splicing factor 3b subunit 4 Gene

  • 基因
  • 蛋白
  • 疾病
  • 相关产品
  • 直系同源

中文名称：剪接因子 3b 亚基 4

种属: Homo sapiens

同用名: AFD1; Hsh49; SAP49; SF3b49

基因 ID: 10262 | 基因类型: protein coding

关于 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.

功能概要

该基因编码剪接因子 3B 的四个亚基之一。由该基因编码的蛋白质交联到前体 mRNA 中的一个区域，紧邻前体 mRNA 中分支点序列的上游，在前体复合体 A 中。它也可能参与 B、C 和 E 剪接体复合体的组装.除了 RNA 结合活性外，该蛋白质还与剪接因子 3B 的亚基 2 直接且高度特异性地相互作用。这种蛋白质包含两个 N 端 RNA 识别基序 (RRM) ，这与它直接结合前体 mRNA 的观察结果一致。[RefSeq 提供，2008 年 7 月]

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 基因产物(1)

mRNA Protein Name
NM_005850.5 NP_005841.1 splicing factor 3B subunit 4
基因本体论
  • 分子功能
  • 生物过程
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables protein binding IPI
IPI: 通过物理相互作用推断
16189514 GOA
enables splicing factor binding IDA
IDA: 通过直接分析推断
27720643 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in mRNA splicing, via spliceosome IDA
IDA: 通过直接分析推断
27720643 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
part of U12-type spliceosomal complex IDA
IDA: 通过直接分析推断
15146077 GOA
part of U2-type precatalytic spliceosome IDA
IDA: 通过直接分析推断
29360106 GOA
part of U2-type spliceosomal complex IDA
IDA: 通过直接分析推断
32494006 GOA
part of U2-type spliceosomal complex IPI
IPI: 通过物理相互作用推断
27720643 GOA
located in nucleus IDA
IDA: 通过直接分析推断
27720643 GOA
part of spliceosomal complex IDA
IDA: 通过直接分析推断
9731529 GOA
EXP：通过实验结果推断 IDA：通过直接分析推断 IPI：通过物理相互作用推断 IMP：通过突变表型推断 IGI：通过遗传相互作用推断 IEP：通过表达模式推断

SF3B4 蛋白结构

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
  • 300
  • 400
  • 424 a.a.
蛋白主名 其他名称

splicing factor 3B subunit 4

SAP 49

关联疾病

疾病名称 别名
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
疾病名称 别名
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

相关产品

Pre-clinical Phase
生物活性分子 (1)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-RS12763 SF3B4 Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 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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