1. Gene
  2. DRC3 - dynein regulatory complex subunit 3 Gene

DRC3 - dynein regulatory complex subunit 3 Gene

中文名称:动力蛋白调节复合物亚基 3

种属: Homo sapiens

同用名: LRRC48; CFAP134

基因 ID: 83450 | 基因类型: protein coding

关于 DRC3

Cytogenetic location: 17p11.2 Genomic coordinates (GRCh38): 17:17,972,813-18,016,889 (from NCBI)

This gene has 18 transcripts (splice variants), 202 orthologues and 13 paralogues. Broad expression in testis (RPKM 3.8), thyroid (RPKM 2.3) and 17 other tissues.

功能概要

位于轴突。 [由基因组资源联盟提供,2022 年 4 月]

Located in axoneme. [provided by Alliance of Genome Resources, Apr 2022]

DRC3 基因产物(4)

mRNA Protein Name
NM_001130090.1 NP_001123562.1 dynein regulatory complex subunit 3 isoform a
NM_001130091.2 NP_001123563.1 dynein regulatory complex subunit 3 isoform b
NM_001130092.2 NP_001123564.1 dynein regulatory complex subunit 3 isoform b
NM_031294.4 NP_112584.3 dynein regulatory complex subunit 3 isoform a
基因本体论
  • 分子功能
  • 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
32296183 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in axoneme IDA
IDA: 通过直接分析推断
26387594 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

DRC3 蛋白结构

LRR_9

LRR_9: Leucine-rich repeat (68 - 202)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 523 a.a.
蛋白主名 其他名称

dynein regulatory complex subunit 3

leucine rich repeat containing 48

关联疾病

疾病名称 别名
Smith-Magenis Syndrome

SMS

Chromosome 17p11.2 Deletion Syndrome

17p11.2 Microdeletion Syndrome

17p11.2 Monosomy

Chromosome 17p Deletion Syndrome

Del(17)

P11.2

17p- Syndrome

Deletion 17p Syndrome

Partial Monosomy 17p

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

Potocki-Lupski Syndrome

PTLS

Chromosome 17p11.2 Duplication Syndrome

17p11.2 Microduplication Syndrome

Duplication 17p11.2 Syndrome

Trisomy 17p11.2

Potocki-Lupski Syndrome (Dup(17)(P11.2p11.2))

17p11.2 Duplication Syndrome

Dup(17)(P11.2p11.2)

Pls

Chromosome 17, Trisomy 17p11 2

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 DRC3 VGNC VGNC:61624
Bos taurus DRC3 VGNC VGNC:52763
Rattus norvegicus DRC3 RGD RGD:1309150
Canis familiaris DRC3 VGNC VGNC:53350
Mus musculus DRC3 MGD MGI:1921915
Macaca mulatta DRC3 VGNC VGNC:71906