2. Gene
  3. RBM28 - RNA binding motif protein 28 Gene

RBM28 - RNA binding motif protein 28 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 28

种属: Homo sapiens

同用名: ANES

基因 ID: 55131 | 基因类型: protein coding

关于 RBM28

Cytogenetic location: 7q32.1 Genomic coordinates (GRCh38): 7:128,297,685-128,343,908 (from NCBI)

This gene has 8 transcripts (splice variants), 201 orthologues, 6 paralogues and is associated with 3 phenotypes. Ubiquitous expression in testis (RPKM 3.5), skin (RPKM 3.3) and 25 other tissues.

功能概要

由该基因编码的蛋白质是剪接体小核核糖核蛋白 (snRNP) 复合物的特定核仁成分。它与 U1、U2、U4、U5 和 U6 小核 RNA (snRNA) 特异性结合，可能协调它们通过核仁的转变。该基因的突变导致脱发、进行性神经系统缺陷和内分泌病 (ANE 综合征) ，这是一种多效性和临床异质性疾病。已发现该基因编码不同亚型的可变剪接转录物变体。[RefSeq 提供，2009 年 10 月]

The protein encoded by this gene is a specific nucleolar component of the spliceosomal small nuclear ribonucleoprotein (snRNP)complexes . It specifically associates with U1, U2, U4, U5, and U6 small nuclear RNAs (snRNAs), possibly coordinating their transition through the nucleolus. Mutation in this gene causes alopecia, progressive neurological defects, and endocrinopathy (ANE syndrome), a pleiotropic and clinically heterogeneous disorder. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2009]

RBM28 基因产物(2)

mRNA Protein Name
NM_001166135.2 NP_001159607.1 RNA-binding protein 28 isoform 2
NM_018077.3 NP_060547.2 RNA-binding protein 28 isoform 1
基因本体论
  • 分子功能
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
30021884 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

RBM28 蛋白结构

RRM_1

RRM_1: RNA recognition motif. (a.k.a. RRM, RBD, or RNP domain) (6 - 68)

RRM_1

RRM_1: RNA recognition motif. (a.k.a. RRM, RBD, or RNP domain) (116 - 184)

RRM_1

RRM_1: RNA recognition motif. (a.k.a. RRM, RBD, or RNP domain) (337 - 395)

(490 - 567)

  • 0
  • 200
  • 400
  • 600
  • 759 a.a.
蛋白主名 其他名称

RNA-binding protein 28

2810480G15Rik

RBM28 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
RBM28 Q9NW13 NOP2 Homo sapiens P46087
Anti Tag CoIP
33961781
种属内
RBM28 Q9NW13 NOP2 Homo sapiens P46087
Crosslink
30021884
种属内
RBM28 Q9NW13 RSL1D1 Homo sapiens O76021
Crosslink
30021884
种属内
RBM28 Q9NW13 RSL1D1 Homo sapiens O76021
Anti Tag CoIP
33961781
种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称 别名
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome

Ane Syndrome

ANES

Alopecia-Progressive Neurological Defect-Endocrinopathy Syndrome

Alopecia-Progressive Neurological Defect-Endocrinopathy

Endocrine System Diseases
Alopecia
Hypotrichosis 11

HYPT11

Hypotrichosis, Type 11
Bone Leiomyosarcoma
Woodhouse-Sakati Syndrome

Diabetes-Hypogonadism-Deafness-Intellectual Disability Syndrome

Woodhouse Sakati Syndrome

Hypogonadism, Alopecia, Diabetes Mellitus, Mental Retardation, Deafness, And Extrapyramidal Syndrome

WDSKS

Extrapyramidal Disorder, Progressive, With Primary Hypogonadism, Mental Retardation, And Alopecia

Diabetes-Hypogonadism-Hearing Loss-Intellectual Disability Syndrome

Progressive Extrapyramidal Disorder With Primary Hypogonadism, Mental Retardation, Alopecia

Hypogonadism, Alopecia, Diabetes Mellitus, Intellectual Disability, Extrapyramidal Syndrome

Neuroectodermal Endocrine Syndrome

Hypogonadism, Diabetes Mellitus, Alopecia, Mental Retardation, And Electrocardiographic Abnormalities

Hypogonadism, Alopecia, Diabetes Mellitus, Mental Retardation, And Extrapyramidal Syndrome

Hypogonadism, Diabetes Mellitus, Alopecia, Mental Retardation And Electrocardiographic Abnormalities

Wss
Tarp Syndrome

TARPS

Pierre Robin Syndrome With Congenital Heart Malformation And Clubfoot

Pierre Robin Sequence-Congenital Heart Defect-Talipes Syndrome

Pierre Robin Syndrome-Congenital Heart Defect-Talipes Syndrome

Talipes Equinovarus-Atrial Septal Defect-Robin Sequence-Persistence Of The Left Superior Vena Cava Syndrome

Talipes Equinovarus, Atrial Septal Defect, Robin Sequence, And Persistence Of Left Superior Vena Cava

Pierre Robin Sequence - Congenital Heart Defect - Talipes

Pierre Robin Syndrome - Congenital Heart Defect - Talipes

Talipes Equinovarus - Atrial Septal Defect - Robin Sequence - Persistence Of The Left Superior Vena Cava

Talipes Equinovarus Atrial Septal Defect Robin Sequence And Persistence Of Left Superior Vena Cava
Hypotrichosis 8

HYPT8

Lah3

Hypotrichosis, Localized, Autosomal Recessive 3

Woolly Hair, Autosomal Recessive 1, With Or Without Hypotrichosis

Autosomal Recessive Woolly Hair 1, With Or Without Hypotrichosis

Hypotrichosis Localized Autosomal Recessive 3

Woolly Hair Autosomal Recessive 1 With Or Without Hypotrichosis

ARWH1

Hypotrichosis, Type 8
Microcephaly

Microencephaly

Microcephalus

Microcephalic

Nanocephaly

Congenital Microcephaly

Brain Hypoplasia

Brain Nondevelopment

Cephalic Hypoplasia

Undeveloped Cerebrum

Undeveloped Brain

Micrencephalon

Micrencephaly
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-RS11746 RBM28 Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 ID
Rattus norvegicus RBM28 RGD RGD:1311336
Felis catus RBM28 VGNC VGNC:80669
Mus musculus RBM28 MGD MGI:2655711
Macaca mulatta RBM28 VGNC VGNC:76519
Canis familiaris RBM28 VGNC VGNC:45417
Bos taurus RBM28 VGNC VGNC:33796
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