1. Gene
  2. DRC1 - dynein regulatory complex subunit 1 Gene

DRC1 - dynein regulatory complex subunit 1 Gene

中文名称:动力蛋白调节复合物亚基 1

种属: Homo sapiens

同用名: CILD21; C2orf39; CCDC164

基因 ID: 92749 | 基因类型: protein coding

关于 DRC1

Cytogenetic location: 2p23.3 Genomic coordinates (GRCh38): 2:26,401,920-26,456,711 (from NCBI)

This gene has 8 transcripts (splice variants), 189 orthologues, 1 paralogue and is associated with 4 phenotypes. Restricted expression toward testis (RPKM 14.3).

功能概要

该基因编码连接蛋白-动力蛋白复合物 (N-DRC) 的核心成分,它调节纤毛动力蛋白的组装。该基因的突变可导致纤毛运动障碍。[RefSeq 提供,2015 年 8 月]

This gene encodes a central component of the nexin-dynein complex (N-DRC), which regulates the assembly of ciliary dynein. Mutations in this gene can cause ciliary dyskinesia. [provided by RefSeq, Aug 2015]

DRC1 基因产物(1)

mRNA Protein Name
NM_145038.5 NP_659475.2 dynein regulatory complex protein 1
基因本体论
  • 分子功能
  • 生物过程
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
34169321 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in axonemal dynein complex assembly IMP
IMP: 通过突变表型推断
23354437 GOA
involved in cilium-dependent cell motility IMP
IMP: 通过突变表型推断
23354437 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

DRC1 蛋白结构

NYD-SP28

NYD-SP28: Sperm tail (98 - 201)

NYD-SP28_assoc

NYD-SP28_assoc: Sperm tail C-terminal domain (660 - 719)

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

dynein regulatory complex protein 1

coiled-coil domain-containing protein 164

关联疾病

疾病名称 别名
Ciliary Dyskinesia, Primary, 21

CILD21

Primary Ciliary Dyskinesia 21

Primary Ciliary Dyskinesia 21 Without Situs Inversus

Ciliary Dyskinesia, Primary, 21, Without Situs Inversus

Dyskinesia, Ciliary, Primary, 21

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

Non-Syndromic Male Infertility Due To Sperm Motility Disorder

Non-Syndromic Male Infertility Due Asthenozoospermia

Ciliary Dyskinesia, Primary, 27

Primary Ciliary Dyskinesia 27

CILD27

Ciliary Dyskinesia, Primary, 27, Without Situs Inversus

Primary Ciliary Dyskinesia 27 Without Situs Inversus

Primary Ciliary Dyskinesia 27 With Or Without Situs Inversus

Dyskinesia, Ciliary, Primary, 27

Kartagener Syndrome

Kartagener'S Syndrome

Situs Inversus

Situs Inversus Viscerum

Laterality Sequence

Complete Transposition

Siv

Ciliary Dyskinesia, Primary, 4

Primary Ciliary Dyskinesia 4

CILD4

Ciliary Dyskinesia, Primary, 4, With Or Without Situs Inversus

Primary Ciliary Dyskinesia 4 With Or Without Situs Inversus

Primary Ciliary Dyskinesia, 4

Ciliary Dyskinesia, Primary, 8

Primary Ciliary Dyskinesia 8

CILD8

Ciliary Dyskinesia, Primary, 8, With Or Without Situs Inversus

Primary Ciliary Dyskinesia 8 With Or Without Situs Inversus

Chronic Purulent Otitis Media

Chronic Suppurative Otitis Media

Csom - [Chronic Suppurative Otitis Media]

Suppurative Otitis Media

Otitis Media With Effusion - Purulent

Purulent Otitis Media

Otitis Media, Suppurative

Dextrocardia

Heart Predominantly In Right Hemithorax

Heart In Right Chest

Right-Sided Heart

Congenital Dextrocardia Of Heart

Transposition Of Heart

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

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 DRC1 VGNC VGNC:28205
Macaca mulatta DRC1 VGNC VGNC:71892
Felis catus DRC1 VGNC VGNC:61623
Mus musculus DRC1 MGD MGI:2685906
Rattus norvegicus DRC1 RGD RGD:1359318
Canis familiaris DRC1 VGNC VGNC:40091
Others DRC1 NCBI