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  2. RPL10 - ribosomal protein L10 Gene

RPL10 - ribosomal protein L10 Gene

中文名称:核糖体蛋白 L10

种属: Homo sapiens

同用名: QM; L10; NOV; AUTSX5; DXS648; MRXS35; DXS648E

基因 ID: 6134 | 基因类型: protein coding

关于 RPL10

Cytogenetic location: Xq28 Genomic coordinates (GRCh38): X:154,398,065-154,402,339 (from NCBI)

This gene has 16 transcripts (splice variants), 103 orthologues, 1 paralogue and is associated with 52 phenotypes. Ubiquitous expression in ovary (RPKM 795.4), lymph node (RPKM 396.3) and 25 other tissues.

功能概要

该基因编码的核糖体蛋白是 60S 核糖体亚基的一个组成部分。鸡体内的相关蛋白可与 c-Jun 结合,抑制 c-Jun 介导的转录激活。一些研究发现该基因变异与自闭症谱系障碍之间存在关联,但其他研究并未发现这种关系。该基因的多个假基因散布在整个基因组中。可变剪接导致多个转录本变体。[RefSeq 提供,2015 年 1 月]

This gene encodes a ribosomal protein that is a component of the 60S ribosome subunit. The related protein in chicken can bind to c-Jun and can repress c-Jun-mediated transcriptional activation. Some studies have detected an association between variation in this gene and autism spectrum disorders, though Others do not detect this relationship. There are multiple pseudogenes of this gene dispersed throughout the genome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2015]

RPL10 基因产物(6)

mRNA Protein Name
NM_001256577.2 NP_001243506.2 60S ribosomal protein L10 isoform b
NM_001256580.2 NP_001243509.2 60S ribosomal protein L10 isoform c
NM_001303624.2 NP_001290553.1 60S ribosomal protein L10 isoform a
NM_001303625.1 NP_001290554.1 60S ribosomal protein L10 isoform a
NM_001303626.1 NP_001290555.1 60S ribosomal protein L10 isoform d
NM_006013.5 NP_006004.3 60S ribosomal protein L10 isoform a
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
10508860 GOA
enables structural constituent of ribosome IDA
IDA: 通过直接分析推断
9443083 GOA
enables structural constituent of ribosome IMP
IMP: 通过突变表型推断
26290468 GOA
enables translation regulator activity IMP
IMP: 通过突变表型推断
26290468 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in embryonic brain development IMP
IMP: 通过突变表型推断
25316788 GOA
involved in negative regulation of apoptotic process IMP
IMP: 通过突变表型推断
10508860 GOA
involved in negative regulation of transcription by RNA polymerase II IMP
IMP: 通过突变表型推断
10508860 GOA
involved in regulation of translation IMP
IMP: 通过突变表型推断
26290468 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
part of cytosolic large ribosomal subunit IDA
IDA: 通过直接分析推断
9443083 GOA
located in cytosolic ribosome IDA
IDA: 通过直接分析推断
23636399 GOA
located in nucleus IDA
IDA: 通过直接分析推断
10508860 GOA
part of protein-containing complex IDA
IDA: 通过直接分析推断
10508860 GOA
colocalizes with smooth endoplasmic reticulum IDA
IDA: 通过直接分析推断
10508860 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

RPL10 蛋白结构

Ribosomal_L16

Ribosomal_L16: Ribosomal protein L16p/L10e (5 - 165)

  • 0
  • 100
  • 200
  • 214 a.a.
蛋白主名 其他名称

60S ribosomal protein L10

Wilms tumor-related protein

RPL10 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
RPL10 P27635 SRC Homo sapiens P12931 16741966
种属内
RPL10 P27635 ATXN1 Homo sapiens P54253 32814053
种属内
RPL10 P27635 ATXN1 Homo sapiens P54253 32814053
种属内
RPL10 P27635 ATXN1 Homo sapiens P54253 32814053
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
Intellectual Developmental Disorder, X-Linked, Syndromic, 35

MRXS35

Mental Retardation, X-Linked, Syndromic, 35

Intellectual Developmental Disorder, X-Linked Syndromic 35

Syndromic X-Linked Mental Retardation 35

X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome

X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome

Intellectual Developmental Disorder, X-Linked, Syndromic 35

Mental Retardation, X-Linked, Syndromic, Type 35

Autism X-Linked 5

Autism, Susceptibility To, X-Linked 5

AUTSX5

Autism, X-Linked 5

Autism, Susceptibility To, X-Linked, Type 5

Autism Spectrum Disorder

Asd

Autism Spectrum Disorders

Autistic Continuum

Pervasive Developmental Disorder

Pervasive Development Disorder

Autistic Behavior

Autistic Disorder

Autistic

Autistic Disorder Of Childhood Onset

Infantile Autism

Childhood Autism

Kanner Syndrome

Pervasive Developmental Delay Nos

Pervasive Developmental Disorder, Not Otherwise Specified

Tinea Nigra

Microsporosis Nigra

Infection By Cladosporium Werneckii

Keratomycosis Nigricans

Tinea Palmaris Nigra

Keratomycosis Nigricans Palmaris

Autism

Autistic Disorder

Autism Susceptibility 1

Childhood Autism

Autistic Disorder Of Childhood Onset

Infantile Autism

Kanner'S Syndrome

Autistic

Oculoglandular Tularemia
Pervasive Developmental Disorder

Pervasive Development Disorder

Pervasive Developmental Disorders

Pervasive Child Development Disorders

Autistic Behavior

Autism Spectrum Disorders

Olecranon Bursitis

Bursitis Of Elbow

Bursitis Of Elbow Region

Capped Elbow

Elbow Bursitis

Miner'S Elbow

Miners' Elbow

Shoe Boil

Tinea Favosa

Favus

Tinea Barbae

Dermatophytosis Of Beard

Tinea Imbricata

Kerion Celsi

Trichophyton Infection

Tinea Imbricata, Susceptibility To

Susceptibility To Tinea Imbricata

Tinea Capitis Profunda

Trichophytia Profunda Barbae

Trichophytia Profunda Capitis

Tinea Capitis

Renpenning Syndrome 1

Renpenning Syndrome

Golabi-Ito-Hall Syndrome

Mrxs3

Mrxs8

X-Linked Intellectual Disability Due To Pqbp1 Mutations

RENS1

Sutherland-Haan X-Linked Mental Retardation Syndrome

Shs

Mrx55

X-Linked Intellectual Disability, Renpenning Type

Sutherland-Haan Syndrome

Mental Retardation, X-Linked, Renpenning Type

Mental Retardation, X-Linked, With Spastic Diplegia

Mental Retardation, X-Linked, Syndromic 3

Mental Retardation, X-Linked, Syndromic 8

Mental Retardation, X-Linked 55

Syndromic X-Linked Mental Retardation 8

X-Linked Mental Retardation Renpenning Type

X-Linked Mental Retardation With Spastic Diplegia

Sutherland-Haan X-Linked Intellectual Disability Syndrome

X-Linked Intellectual Disability With Spastic Diplegia

Hamel Cerebropalatocardiac Syndrome

Porteous Syndrome

X-Linked Intellectual Deficit Due To Pqbp1 Mutations

X-Linked Intellectual Deficit, Renpenning Type

X-Linked Intellectual Disability, Sutherland-Haan Type

Hamel Cerebro-Palato-Cardiac Syndrome

Renpenning Syndrome, Type 1

Tinea Manuum

Tinea Manus

Dermatophytosis Of Hand

Microcephaly

Microencephaly

Microcephalus

Microcephalic

Nanocephaly

Congenital Microcephaly

Brain Hypoplasia

Brain Nondevelopment

Cephalic Hypoplasia

Undeveloped Cerebrum

Undeveloped Brain

Micrencephalon

Micrencephaly

Diamond-Blackfan Anemia

Congenital Pure Red Cell Aplasia

Aase Syndrome

Erythrogenesis Imperfecta

Anemia, Diamond-Blackfan

Congenital Hypoplastic Anemia

Aase-Smith Ii Syndrome

Bds

Blackfan-Diamond Anemia

Congenital Prca

Congenital Hypoplastic Anemia, Blackfan-Diamond Type

Dba

Blackfan - Diamond Syndrome

Chronic Constitutional Pure Red Cell Anaemia

Anemia Diamond Blackfan Type

Anemia Congenital Erythroid Hypoplastic

Aregenerative Anemia Chronic Congenital

Blackfan Diamond Syndrome

Red Cell Aplasia, Pure Hereditary

Aase-Smith Syndrome Ii

Bda

Blackfan Diamond Anemia

Blackfan-Diamond Disease

Blackfan-Diamond Syndrome

Chronic Congenital Agenerative Anemia

Congenital Erythroid Hypoplastic Anemia

Congenital Hypoplastic Anemia Of Blackfan And Diamond

Congenital Pure Red Cell Anemia

Hypoplastic Congenital Anemia

Inherited Erythroblastopenia

Pure Hereditary Red Cell Aplasia

Anemia, Hypoplastic, Congenital

Anemia Hypoplastic Congenital

Fanconi Anemia

Constitutional Aplastic Anemia

Diamond-Blackfan Anemia 1

Aase Smith Syndrome 2

Congenital Red Cell Aplasia

Red Cell Aplasia Of Infants

Pure Red Cell Aplasia Of Infants

Congenital Red Cell Aplastic Anaemia

Congenital Pure Red Cell Anaemia

Congenital Erythroid Hypoplasia

Pearson Marrow-Pancreas Syndrome

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
Rattus norvegicus RPL10 RGD RGD:621178
Mus musculus RPL10 MGD MGI:105943