1. Gene
  2. RSPH9 - radial spoke head component 9 Gene

RSPH9 - radial spoke head component 9 Gene

中文名称:径向辐条头组件 9

种属: Homo sapiens

同用名: CILD12; C6orf206; MRPS18AL1

基因 ID: 221421 | 基因类型: protein coding

关于 RSPH9

Cytogenetic location: 6p21.1 Genomic coordinates (GRCh38): 6:43,645,036-43,672,600 (from NCBI)

This gene has 2 transcripts (splice variants), 208 orthologues and is associated with 2 phenotypes. Biased expression in testis (RPKM 11.2), lung (RPKM 1.7) and 1 other tissue.

功能概要

该基因编码的蛋白质被认为是活动纤毛和鞭毛中径向辐条头的组成部分。该基因的突变与原发性纤毛运动障碍 12 相关。可变剪接导致多种转录物变异。[RefSeq 提供,2010 年 7 月]

This gene encodes a protein thought to be a component of the radial spoke head in motile cilia and flagella. Mutations in this gene are associated with primary ciliary dyskinesia 12. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Jul 2010]

RSPH9 基因产物(2)

mRNA Protein Name
NM_001193341.2 NP_001180270.1 radial spoke head protein 9 homolog isoform 2
NM_152732.5 NP_689945.2 radial spoke head protein 9 homolog isoform 1
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
25416956 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in axoneme assembly IMP
IMP: 通过突变表型推断
19200523 GOA
involved in cilium movement IMP
IMP: 通过突变表型推断
19200523 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in 9+2 motile cilium IDA
IDA: 通过直接分析推断
26909801 GOA
located in axoneme IDA
IDA: 通过直接分析推断
26909801 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

RSPH9 蛋白结构

Radial_spoke

Radial_spoke: Radial spokehead-like protein (223 - 274)

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

radial spoke head protein 9 homolog

radial spoke head 9 homolog

RSPH9 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
RSPH9 Q9H1X1 LONP2 Homo sapiens Q86WA8 33961781
种属内
RSPH9 Q9H1X1 LONP2 Homo sapiens Q86WA8
TAP
27173435
种属内
RSPH9 Q9H1X1 LONP2 Homo sapiens Q86WA8 28514442
种属内
RSPH9 Q9H1X1 PNMA1 Homo sapiens Q8ND90 25416956
种属内
RSPH9 Q9H1X1 PNMA1 Homo sapiens Q8ND90 25416956
种属内
RSPH9 Q9H1X1 PNMA1 Homo sapiens Q8ND90 25416956
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
Ciliary Dyskinesia, Primary, 12

CILD12

Primary Ciliary Dyskinesia 12

Primary Ciliary Dyskinesia 12 Without Situs Inversus

Ciliary Dyskinesia, Primary, 12, Without Situs Inversus

Ics12

Immotile Cilia Syndrome 12

Dyskinesia, Ciliary, Primary, Type 12

Primary Ciliary Dyskinesia

Immotile Cilia Syndrome

Kartagener Syndrome

Dextrocardia Bronchiectasis And Sinusitis

Pcd

Ciliary Motility Disorders

Ciliary Motility Disorder

Immotile Ciliary Syndrome

Ciliary Dyskinesia Primary

Ics

Polynesian Bronchiectasis

Dextrocardia-Bronchiectasis-Sinusitis Syndrome

Immotile Cilia Syndrome, Kartagener Type

Primary Ciliary Dyskinesia And Situs Inversus

Primary Ciliary Dyskinesia, Kartagener Type

Siewert Syndrome

Dyskinesia, Ciliary, Primary

Kartagener Syndrome

Kartagener'S Syndrome

Ciliary Dyskinesia, Primary, 10

Primary Ciliary Dyskinesia 10

CILD10

Primary Ciliary Dyskinesia 10 With Or Without Situs Inversus

Ciliary Dyskinesia, Primary, 10, With Or Without Situs Inversus

Ics10

Immotile Cilia Syndrome 10

Dyskinesia, Ciliary, Primary, 10

Situs Inversus

Situs Inversus Viscerum

Laterality Sequence

Complete Transposition

Siv

Bronchiectasis

Polynesian Bronchiectasis

Kartagener Syndrome

Bronchiectasis Nos

Ciliary Dyskinesia, Primary, 6

Primary Ciliary Dyskinesia 6

CILD6

Ics6

Immotile Cilia Syndrome 6

Dyskinesia, Ciliary, Primary, 6

Otorrhea

Discharging Ear

Ciliary Dyskinesia, Primary, 1

CILD1

Pcd

Primary Ciliary Dyskinesia 1

Kartagener Syndrome

Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus

Immotile Cilia Syndrome

Ics

Polynesian Bronchiectasis

Primary Ciliary Dyskinesia 1 With Or Without Situs Inversus

Ics1

Immotile Cilia Syndrome 1

Primary Ciliary Dyskinesia

KTGS

Dextrocardia-Bronchiectasis-Sinusitis Syndrome

Immotile Cilia Syndrome Kartagener Type

Primary Ciliary Dyskinesia Kartagener Type

Siewert Syndrome

Immotile Cilia

Dyskinesia, Ciliary, Primary, Type 1

Ciliary Motility Disorders

Paranasal Sinus Disease

Paranasal Sinus Diseases

Disorder Of Nasal Sinus

Visceral Heterotaxy

Situs Ambiguus

Heterotaxia

Heterotaxy Syndrome

Heterotaxy

Lateralization Defect

Situs Ambiguous

Left Isomerism

Htx

Ivemark Syndrome

Right Isomerism

Situs Ambiguus Viscerum

Incomplete Situs Inversus

Partial Situs Inversus

Heterotaxy, Visceral

Asplenia Syndrome

Bilateral Left-Sidedness

Polysplenia Syndrome

Moller Syndrome

Middle Ear Disease

Middle Ear Anomaly

Disorder Of Middle Ear

Retinitis Pigmentosa

RP

Rod-Cone Dystrophy

Autosomal Recessive Retinitis Pigmentosa

Non-Syndromic Retinitis Pigmentosa

Pericentral Pigmentary Retinopathy

Pigmentary Retinopathy

Tapetoretinal Degeneration

Rcd

Retinitis Pigmentosa Autosomal Recessive

ARRP

Retinitis Pigmentosa, Autosomal Recessive

Retinitis Pigmentosa 1

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
Felis catus RSPH9 VGNC VGNC:64795
Rattus norvegicus RSPH9 RGD RGD:1310693
Macaca mulatta RSPH9 VGNC VGNC:77072
Bos taurus RSPH9 VGNC VGNC:34187
Mus musculus RSPH9 MGD MGI:1922814
Canis familiaris RSPH9 VGNC VGNC:57231