2. Gene
  3. RBM8A - RNA binding motif protein 8A Gene

RBM8A - RNA binding motif protein 8A Gene

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

中文名称：RNA 结合基序蛋白 8A

种属: Homo sapiens

同用名: TAR; Y14; RBM8; ZNRP; RBM8B; ZRNP1; BOV-1A; BOV-1B; BOV-1C; MDS014; DEL1q21.1; C1DELq21.1

基因 ID: 9939 | 基因类型: protein coding

关于 RBM8A

Cytogenetic location: 1q21.1 Genomic coordinates (GRCh38): 1:145,921,556-145,927,484 (from NCBI)

This gene has 8 transcripts (splice variants), 209 orthologues and is associated with 3 phenotypes. Ubiquitous expression in brain (RPKM 21.6), esophagus (RPKM 19.1) and 25 other tissues.

功能概要

该基因编码一种具有保守 RNA 结合基序的蛋白质。该蛋白质主要存在于细胞核中，尽管它也存在于细胞质中。它优先与剪接产生的 mRNA 相关，包括核 mRNA 和新输出的细胞质 mRNA。人们认为该蛋白质仍然与剪接的 mRNA 相关联，作为一个标签来指示内含子存在的位置，从而耦合 mRNA 剪接前和剪接后事件。以前，人们认为有两个基因编码这种蛋白质，RBM8A 和 RBM8B；现在认为 RBM8B 位点是一个假基因。该基因有两个交替的翻译起始密码子，从而产生两种形式的蛋白质。该基因中的等位基因突变和低频非编码单核苷酸多态性 (SNP) 导致血小板减少症半径缺失 (TAR) 综合征。[RefSeq 提供，2013 年 7 月]

This gene encodes a protein with a conserved RNA-binding motif. The protein is found predominantly in the nucleus, although it is also present in the cytoplasm. It is preferentially associated with mRNAs produced by splicing, including both nuclear mRNAs and newly exported cytoplasmic mRNAs. It is thought that the protein remains associated with spliced mRNAs as a tag to indicate where introns had been present, thus coupling pre- and post-mRNA splicing events. Previously, it was thought that two genes encode this protein, RBM8A and RBM8B; it is now thought that the RBM8B locus is a pseudogene. There are two alternate translation start codons with this gene, which result in two forms of the protein. An allele mutation and a low-frequency noncoding single-nucleotide polymorphism (SNP) in this gene cause thrombocytopenia-absent radius (TAR) syndrome. [provided by RefSeq, Jul 2013]

RBM8A 基因产物(1)

mRNA Protein Name
NM_005105.5 NP_005096.1 RNA-binding protein 8A
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
10662555 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
29301961 GOA
involved in nuclear-transcribed mRNA catabolic process, nonsense-mediated decay IMP
IMP: 通过突变表型推断
16209946 GOA
involved in regulation of alternative mRNA splicing, via spliceosome IMP
IMP: 通过突变表型推断
22203037 GOA
involved in regulation of mRNA processing IDA
IDA: 通过直接分析推断
23115303 GOA
involved in regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay IDA
IDA: 通过直接分析推断
19478851 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
part of U2-type catalytic step 1 spliceosome IDA
IDA: 通过直接分析推断
29301961 GOA
part of catalytic step 2 spliceosome IDA
IDA: 通过直接分析推断
11991638 GOA
part of exon-exon junction complex IDA
IDA: 通过直接分析推断
16601204 GOA
part of exon-exon junction complex IPI
IPI: 通过物理相互作用推断
16931718 GOA
part of exon-exon junction subcomplex mago-y14 IPI
IPI: 通过物理相互作用推断
12781131 GOA
located in nucleus IDA
IDA: 通过直接分析推断
29301961 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
蛋白主名 其他名称

RNA-binding protein 8A

BOV-1

RBM8A 蛋白互作信息

分类
蛋白名称 蛋白编号 互作蛋白 互作蛋白种属 互作蛋白编号 实验方法 参考文献
种属内
RBM8A Q9Y5S9 TCF12 Homo sapiens Q99081-3
Y2H Array
32296183
种属内
RBM8A Q9Y5S9 TCF12 Homo sapiens Q99081-3
Y2H Prey Pooling
32296183
种属内
RBM8A Q9Y5S9 EIF4A3 Homo sapiens P38919
Anti Tag CoIP
16209946
种属内
RBM8A Q9Y5S9 EIF4A3 Homo sapiens P38919
Crosslink
23084401
种属内
RBM8A Q9Y5S9 EIF4A3 Homo sapiens P38919
Anti Tag CoIP
14730019
种属内
RBM8A Q9Y5S9 EIF4A3 Homo sapiens P38919
Anti Bait CoIP
19417104
种属内
RBM8A Q9Y5S9 EIF4A3 Homo sapiens P38919
Anti Tag CoIP
23084401
种属内
RBM8A Q9Y5S9 EIF4A3 Homo sapiens P38919
Anti Bait CoIP
23084401
种属内
RBM8A Q9Y5S9 EIF4A3 Homo sapiens P38919
Anti Tag CoIP
35271311
种属内
RBM8A Q9Y5S9 THRAP3 Homo sapiens Q9Y2W1
Anti Tag CoIP
35271311
种属内
RBM8A Q9Y5S9 THRAP3 Homo sapiens Q9Y2W1
Anti Tag CoIP
20123736
种属内
RBM8A Q9Y5S9 UPF3B Homo sapiens Q9BZI7
Pull Down
11546873
种属内
RBM8A Q9Y5S9 UPF3B Homo sapiens Q9BZI7
Anti Bait CoIP
23084401
种属内
RBM8A Q9Y5S9 UPF3B Homo sapiens Q9BZI7
Anti Tag CoIP
16209946
种属内
RBM8A Q9Y5S9 UPF3B Homo sapiens Q9BZI7
Anti Bait CoIP
11546873
种属内
RBM8A Q9Y5S9 UPF3B Homo sapiens Q9BZI7
Anti Tag CoIP
12718880
种属内
RBM8A Q9Y5S9 UPF3B Homo sapiens Q9BZI7
Anti Bait CoIP
16452507
种属内
RBM8A Q9Y5S9 UPF3B Homo sapiens Q9BZI7
Anti Tag CoIP
11546874
种属内
RBM8A Q9Y5S9 UPF3A Homo sapiens Q9H1J1
Pull Down
11546873
种属内
RBM8A Q9Y5S9 UPF3A Homo sapiens Q9H1J1
Anti Tag CoIP
11546874
种属内
RBM8A Q9Y5S9 UPF3A Homo sapiens Q9H1J1
Anti Bait CoIP
11546873
种属内
RBM8A Q9Y5S9 SRPK1 Homo sapiens Q96SB4
Anti Tag CoIP
35271311
种属内
RBM8A Q9Y5S9 SRPK2 Homo sapiens P78362
Protein Kinase Assay
23602568
种属内
RBM8A Q9Y5S9 MAGOHB Homo sapiens Q96A72
Y2H Pooling
16189514
种属内
RBM8A Q9Y5S9 MAGOHB Homo sapiens Q96A72
MAPPIT
32296183
种属内
RBM8A Q9Y5S9 MAGOHB Homo sapiens Q96A72
Anti Tag CoIP
35271311
种属间: 跨种属相互作用 种属内: 同种属相互作用

RBM8A 抗体

目录号 产品名 应用 反应物种
HY-P82694 Y14 Antibody (YA2439) WB, IHC-P, ICC/IF, IP, FC Human, Mouse, Rat

关联疾病

疾病名称 别名
Thrombocytopenia-Absent Radius Syndrome

Tar Syndrome

Radial Aplasia-Thrombocytopenia Syndrome

Absent Radii And Thrombocytopenia

TAR

Chromosome 1q21.1 Deletion Syndrome, 200-Kb

Thrombocytopenia Absent Radius Syndrome

Thrombocytopenia Absent Radii

Chromosome 1q21.1 Deletion Syndrome

Thrombocytopenia With Absent Radii Syndrome

Radial Aplasia-Amegakaryocytic Thrombocytopenia
Thrombocytopenia

Low Platelet Count

Low Platelets

Decreased Platelets

Platelet Dysfunction Nos
Orofaciodigital Syndrome X

OFD10

Orofaciodigital Syndrome With Fibular Aplasia

Oral-Facial-Digital Syndrome With Fibular Aplasia

Ofds X

Oral-Facial-Digital Syndrome, Type X

Orofaciodigital Syndrome 10

Ofd Syndrome 10

Ofds 10

Oral Facial Digital Syndrome 10

Oral Facial Digital Syndrome Type 10

Oral-Facial-Digital Syndrome 10

Orofaciodigital Syndrome Type Figuera

Orofaciodigital Syndrome Type 10

Figuera Syndrome

Oral-Facial-Digital Syndrome Type 10
Amegakaryocytic Thrombocytopenia, Congenital

Congenital Amegakaryocytic Thrombocytopenia

CAMT

Thrombocytopenia, Congenital Amegakaryocytic

Congenital Amegakaryocytic Thrombocytopenic Purpura

Thrombocytopenia Congenital Amegakaryocytic

Thrombocytopenia, Amegakaryocytic, Congenital
Kohler'S Disease

Kohler Disease

Aseptic Necrosis Of The Tarsal Bone

Osteochondrosis Of The Tarsal Bone

Juvenile Osteochondrosis Of Foot

Kohler'S Disease Of The Tarsal Navicular

Kohler'S Osteochondrosis Of The Tarsal Navicular

Navicular Osteochondrosis

Obsolete: Osteochondritis Of Tarsal/Metatarsal Bone

Osteochondritis Of Tarsal/Metatarsal Bone

Avascular Necrosis Of The Tarsal Bone

Larsen-Johansson Syndrome
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome

Ane Syndrome

ANES

Alopecia-Progressive Neurological Defect-Endocrinopathy Syndrome

Alopecia-Progressive Neurological Defect-Endocrinopathy

Endocrine System Diseases
Vacterl Association

Vater Association

Vater Syndrome
46,Xy Sex Reversal 8

SRXY8

Male Pseudohermaphroditism Due To Deficiency Of Testicular 17,20-Desmolase

Tdd

46,Xy Disorder Of Sex Development Due To Testicular 17,20-Desmolase Deficiency

46xy Sex Reversal 8

46xy Sex Reversal 8, Modifier Of

Male Pseudohermaphroditism: Deficiency Of Testicular 17,20-Desmolase
Radioulnar Synostosis

Radio-Ulnar Synostosis Type 1
Cardiomyopathy, Dilated, 1m

Dilated Cardiomyopathy 1m

CMD1M

Cardiomyopathy, Dilated 1m

Cardiomyopathy, Dilated, Type 1m
Microcephaly

Microencephaly

Microcephalus

Microcephalic

Nanocephaly

Congenital Microcephaly

Brain Hypoplasia

Brain Nondevelopment

Cephalic Hypoplasia

Undeveloped Cerebrum

Undeveloped Brain

Micrencephalon

Micrencephaly
Chromosomal Deletion Syndrome
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1

FTDALS1

Frontotemporal Dementia And/Or Motor Neuron Disease

Ftdmnd

Amyotrophic Lateral Sclerosis And/Or Frontotemporal Dementia

Alsftd

Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis

Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis-1

Frontotemporal Dementia With Motor Neuron Disease

Ftdals

Ftd-Als

Ftd-Mnd

Frontotemporal Dementia With Amyotrophic Lateral Sclerosis

Amyotrophic Lateral Sclerosis With Frontotemporal Dementia 1

Amyotrophic Lateral Sclerosis/Frontotemporal Dementia

Dementia, Frontotemporal, And/Or Amyotrophic Lateral Sclerosis

Amyotrophic Lateral Sclerosis And/Or Frontotemporal Dementia 1

Frontotemporal Lobar Degeneration

Grn-Related Frontotemporal Dementia
Pick Disease Of Brain

Pick Disease

Pick'S Disease

Pick Disease Of The Brain

Lobar Atrophy Of Brain

Dementia With Lobar Atrophy And Neuronal Cytoplasmic Inclusions

Behavioral Variant Of Frontotemporal Dementia

Dementia In Pick'S Disease

Lobar Atrophy Of The Brain

Bvftd

Bv-Ftd

PIDB

Picks Disease
Frontotemporal Dementia

Pallidopontonigral Degeneration

Frontotemporal Lobar Degeneration

Semantic Dementia

FTD

Frontotemporal Lobe Dementia

Multiple System Tauopathy With Presenile Dementia

Dementia, Frontotemporal

Frontotemporal Dementia With Parkinsonism

Mstd

Frontotemporal Lobar Degeneration With Tau Inclusions

Ftld With Tau Inclusions

Dementia, Frontotemporal, With Parkinsonism

Fldem

Ftdp17

Disinhibition-Dementia-Parkinsonism-Amyotrophy Complex

Ddpac

Wilhelmsen-Lynch Disease

Wld

Ppnd

Dementia, Frontotemporal, With Or Without Parkinsonism

Semantic Primary Progressive Aphasia

Semantic Variant Ppa

Wilhemsen-Lynch Disease

Frontotemporal Dementia-Amyotrophic Lateral Sclerosis

Frontotemporal Dementia And Parkinsonism Linked To Chromosome 17

Ftd-Als

Ftld

Pick Complex

Pick Disease Of The Brain

Frontotemporal Dementia With Parkinsonism-17

Grn-Related Frontotemporal Dementia

Frontotemporal Dementia With Motor Neuron Disease

Dementia In Fronto-Temporal Lobar Degeneration

Ftd - [Frontotemporal Dementia]

Temple Dementia

Frontal Lobe Dementia
Amyotrophic Lateral Sclerosis 1

Amyotrophic Lateral Sclerosis

ALS

Lou Gehrig Disease

Amyotrophic Lateral Sclerosis Type 1

Charcot Disease

ALS1

Amyotrophic Lateral Sclerosis, Susceptibility To

Fals

Lou Gehrig'S Disease

Mnd

Motor Neuron Disease

Familial Amyotrophic Lateral Sclerosis

Amyotrophic Lateral Sclerosis 1, Familial

Amyotrophic Lateral Sclerosis 1, Autosomal Dominant

Motor Neuron Disease, Bulbar

Motor Neurone Disease

Amyotrophic Lateral Sclerosis With Dementia

Dementia With Amyotrophic Lateral Sclerosis

Motor Neuron Disease, Amyotrophic Lateral Sclerosis

Sclerosis, Lateral, Amyotrophic

Sclerosis, Lateral, Amyotrophic, Type 1

Amyotrophic Sclerosis

Als - [Amyotrophic Lateral Sclerosis]

Wasting Palsy

Amyotrophic Paralysis

Amyotrophy Lateral Sclerosis

Wasting Paralysis

Spinal Progressive Amyotrophy

Progressive Atrophic Paralysis
Congenital Nervous System Abnormality

Congenital Neurologic Anomaly

Congenital Nervous System Disorder
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-RS11759 RBM8A 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 RBM8A VGNC VGNC:80339
Bos taurus RBM8A VGNC VGNC:33808
Macaca mulatta RBM8A VGNC VGNC:76684
Canis familiaris RBM8A VGNC VGNC:45426
Rattus norvegicus RBM8A RGD RGD:1310099
Mus musculus RBM8A MGD MGI:1913129
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