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  2. RBM45 - RNA binding motif protein 45 Gene

RBM45 - RNA binding motif protein 45 Gene

中文名称:RNA 结合基序蛋白 45

种属: Homo sapiens

同用名: DRB1; RB-1

基因 ID: 129831 | 基因类型: protein coding

关于 RBM45

Cytogenetic location: 2q31.2 Genomic coordinates (GRCh38): 2:178,112,437-178,139,011 (from NCBI)

This gene has 7 transcripts (splice variants), 207 orthologues and 24 paralogues. Ubiquitous expression in testis (RPKM 3.5), lymph node (RPKM 3.4) and 25 other tissues.

功能概要

该基因编码 RNA 识别基序 (RRM) 型 RNA 结合蛋白家族的成员。这种蛋白质表现出与 poly (C) RNA 的优先结合。该基因的初始克隆发现大鼠直系同源物在发育中的大鼠大脑中动态表达。这种蛋白质已定位于肌萎缩侧索硬化症和阿尔茨海默病患者大脑和脊髓中的包涵体。已在 8 号染色体上鉴定出一个假基因。[RefSeq 提供,2015 年 2 月]

This gene encodes a member of the RNA recognition motif (RRM)-type RNA-binding family of proteins. This protein exhibits preferential binding to poly(C) RNA. Initial cloning of this gene found that the rat ortholog was dynamically expressed in the developing rat brain. This protein has been localized to inclusion bodies in the brain and spinal cord of amyotrophic lateral sclerosis and Alzheimer's patients. A pseudogene has been identified on chromosome 8. [provided by RefSeq, Feb 2015]

RBM45 基因产物(3)

mRNA Protein Name
NM_001365578.1 NP_001352507.1 RNA-binding protein 45 isoform 1
NM_001365579.1 NP_001352508.1 RNA-binding protein 45 isoform 2
NM_152945.4 NP_694453.2 RNA-binding protein 45 isoform 1

RBM45 蛋白结构

RRM_1

RRM_1: RNA recognition motif. (a.k.a. RRM, RBD, or RNP domain) (34 - 92)

RRM_1

RRM_1: RNA recognition motif. (a.k.a. RRM, RBD, or RNP domain) (127 - 183)

RRM_5

RRM_5: RNA recognition motif. (a.k.a. RRM, RBD, or RNP domain) (409 - 458)

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蛋白主名 其他名称

RNA-binding protein 45

developmentally regulated RNA-binding protein 1

关联疾病

疾病名称 别名
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

Tick Infestation

Tick Infestations

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

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

直系同源

种属 基因名 来源 基因 ID
Bos taurus RBM45 VGNC VGNC:52814
Felis catus RBM45 VGNC VGNC:64533
Mus musculus RBM45 MGD MGI:2387367
Canis familiaris RBM45 VGNC VGNC:53104
Macaca mulatta RBM45 VGNC VGNC:76527
Rattus norvegicus RBM45 RGD RGD:628862