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  3. RSPH1 - radial spoke head component 1 Gene

RSPH1 - radial spoke head component 1 Gene

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

中文名称：径向辐条头组件 1

种属: Homo sapiens

同用名: CT79; TSA2; RSP44; TSGA2; RSPH10A

基因 ID: 89765 | 基因类型: protein coding

关于 RSPH1

Cytogenetic location: 21q22.3 Genomic coordinates (GRCh38): 21:42,472,486-42,496,224 (from NCBI)

This gene has 3 transcripts (splice variants), 193 orthologues, 7 paralogues and is associated with 3 phenotypes. Biased expression in testis (RPKM 13.7), lung (RPKM 8.0) and 12 other tissues.

功能概要

该基因编码一种雄性减数分裂中期染色体相关酸性蛋白。该基因在具有活动纤毛或鞭毛的组织中表达，包括气管、肺、气道刷和睾丸。该基因的突变会导致原发性纤毛运动障碍 24。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，2014 年 9 月]

This gene encodes a male meiotic metaphase chromosome-associated acidic protein. This gene is expressed in tissues with motile cilia or flagella, including the trachea, lungs, airway brushings, and testes. Mutations in this gene result in primary ciliary dyskinesia-24. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2014]

RSPH1 基因产物(2)

mRNA Protein Name
NM_001286506.2 NP_001273435.1 radial spoke head 1 homolog isoform 2
NM_080860.4 NP_543136.1 radial spoke head 1 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
23993197 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in motile cilium IDA
IDA: 通过直接分析推断
23993197 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

RSPH1 蛋白结构

MORN

MORN: MORN repeat (28 - 43)

MORN

MORN: MORN repeat (44 - 66)

MORN

MORN: MORN repeat (67 - 89)

MORN

MORN: MORN repeat (90 - 112)

MORN

MORN: MORN repeat (113 - 131)

MORN

MORN: MORN repeat (137 - 148)

MORN

MORN: MORN repeat (159 - 180)

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

radial spoke head 1 homolog

cancer/testis antigen 79

RSPH1 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
RSPH1 Q8WYR4 MORN3 Homo sapiens Q6PF18
Y2H Array
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, 24

CILD24

Primary Ciliary Dyskinesia 24

Ciliary Dyskinesia, Primary, 24, Without Situs Inversus

Primary Ciliary Dyskinesia 24 Without Situs Inversus
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
Situs Inversus

Situs Inversus Viscerum

Laterality Sequence

Complete Transposition

Siv
Bronchiectasis

Polynesian Bronchiectasis

Kartagener Syndrome

Bronchiectasis Nos
Otorrhea

Discharging Ear
Spherocytosis, Type 3

Hereditary Spherocytosis Type 3

SPH3

Hs3

Spherocytosis, Hereditary, 3

Hereditary Spherocytosis 3

Spherocytosis 3
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
Spherocytosis, Type 4

Hereditary Spherocytosis Type 4

SPH4

Hs4

Spherocytosis, Hereditary, 4

Hereditary Spherocytosis 4

Spherocytosis 4
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
Kartagener Syndrome

Kartagener'S Syndrome
Cri-Du-Chat Syndrome

5p Deletion Syndrome

5p Partial Monosomy Syndrome

Monosomy 5p

Cat Cry Syndrome

Chromosome 5p Deletion Syndrome

Cri Du Chat Syndrome

5p- Syndrome

5p Minus Syndrome

Chromosome 5p- Syndrome

Chromosome 5 Short Arm Deletion Syndrome

Chromosome 5p Deletion

Deletion 5p

Cri Du Chat

5p Partial Deletion Syndrome

Partial Deletion Of Short Arm Of Chromosome 5 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

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-RS12302 RSPH1 Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 ID
Bos taurus RSPH1 VGNC VGNC:34182
Rattus norvegicus RSPH1 RGD RGD:1307712
Mus musculus RSPH1 MGD MGI:1194909
Felis catus RSPH1 VGNC VGNC:64790
Canis familiaris RSPH1 VGNC VGNC:45777
Macaca mulatta RSPH1 VGNC VGNC:77003
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