1. Gene
  2. DNAH3 - dynein axonemal heavy chain 3 Gene

DNAH3 - dynein axonemal heavy chain 3 Gene

中文名称:动力蛋白轴丝重链 3

种属: Homo sapiens

同用名: HDHC8; HEL-36; DNAHC3B; HSADHC3; DNAHC3-B

基因 ID: 55567 | 基因类型: protein coding

关于 DNAH3

Cytogenetic location: 16p12.3 Genomic coordinates (GRCh38): 16:20,933,111-21,159,459 (from NCBI)

This gene has 8 transcripts (splice variants), 281 orthologues and 15 paralogues. Biased expression in testis (RPKM 2.3), lung (RPKM 0.6) and 4 other tissues.

功能概要

该基因属于动力蛋白家族,其成员编码大蛋白,这些大蛋白是微管相关运动蛋白复合物的组成部分。该复合物由动力蛋白重链、中间链和轻链组成,可以是轴丝或细胞质的。这种蛋白质是轴丝动力蛋白重链。它通过使用来自 ATP 水解的能量参与产生纤毛跳动的力量。可变剪接导致编码不同异构体的多个转录变体。[RefSeq 提供,2016 年 12 月]

This gene belongs to the dynein family, whose members encode large proteins that are constituents of the microtubule-associated motor protein complex. This complex is composed of dynein heavy, intermediate and light chains, which can be axonemal or cytoplasmic. This protein is an axonemal dynein heavy chain. It is involved in producing force for ciliary beating by using energy from ATP hydrolysis. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Dec 2016]

DNAH3 基因产物(3)

mRNA Protein Name
NM_001347886.2 NP_001334815.1 dynein axonemal heavy chain 3 isoform 2
NM_001394581.1 NP_001381510.1 dynein axonemal heavy chain 3 isoform 3
NM_017539.2 NP_060009.1 dynein axonemal heavy chain 3 isoform 1

DNAH3 蛋白结构

DHC_N2

DHC_N2: Dynein heavy chain, N-terminal region 2 (864 - 1269)

AAA_6

AAA_6: Hydrolytic ATP binding site of dynein motor region D1 (1391 - 1618)

AAA_7

AAA_7: P-loop containing dynein motor region D3 (2047 - 2306)

AAA_8

AAA_8: P-loop containing dynein motor region D4 (2401 - 2665)

MT

MT: Microtubule-binding stalk of dynein motor (2678 - 3023)

AAA_9

AAA_9: ATP-binding dynein motor region D5 (3046 - 3273)

Dynein_heavy

Dynein_heavy: Dynein heavy chain and region D6 of dynein motor (3405 - 4113)

  • 0
  • 700
  • 1400
  • 2100
  • 2800
  • 3500
  • 4116 a.a.
蛋白主名 其他名称

dynein axonemal heavy chain 3

axonemal beta dynein heavy chain 3

关联疾病

疾病名称 别名
Sulfonamide Allergy
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

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 DNAH3 VGNC VGNC:61544
Macaca mulatta DNAH3 VGNC VGNC:71941
Canis familiaris DNAH3 VGNC VGNC:40015
Bos taurus DNAH3 VGNC VGNC:57348
Mus musculus DNAH3 MGD MGI:2683040
Rattus norvegicus DNAH3 RGD RGD:1305855