1. Gene
  2. DNAH14 - dynein axonemal heavy chain 14 Gene

DNAH14 - dynein axonemal heavy chain 14 Gene

中文名称:动力蛋白轴丝重链 14

种属: Homo sapiens

同用名: HL18; HL-18; C1orf67; Dnahc14

基因 ID: 127602 | 基因类型: protein coding

关于 DNAH14

Cytogenetic location: 1q42.12 Genomic coordinates (GRCh38): 1:224,929,654-225,399,286 (from NCBI)

This gene has 20 transcripts (splice variants), 108 orthologues, 15 paralogues and is associated with 1 phenotype. Biased expression in testis (RPKM 2.0), thyroid (RPKM 0.3) and 6 other tissues.

功能概要

动力蛋白是由几条重链、轻链和中间链组成的微管相关运动蛋白复合物。已经确定了两大类动力蛋白,即轴丝动力蛋白和细胞质动力蛋白。 DNAH14 是轴丝动力蛋白重链 (DHC) (Vaughan 等人,1996 [PubMed 8812413]) 。[OMIM 提供,2008 年 3 月]

Dyneins are microtubule-associated motor protein complexes composed of several heavy, light, and intermediate chains. Two major classes of dyneins, axonemal and cytoplasmic, have been identified. DNAH14 is an axonemal dynein heavy chain (DHC) (Vaughan et al., 1996 [PubMed 8812413]).[supplied by OMIM, Mar 2008]

DNAH14 基因产物(6)

mRNA Protein Name
NM_001145154.3 NP_001138626.1 dynein axonemal heavy chain 14 isoform 2
NM_001349911.2 NP_001336840.1 dynein axonemal heavy chain 14 isoform 4
NM_001349912.2 NP_001336841.1 dynein axonemal heavy chain 14 isoform 5
NM_001367479.1 NP_001354408.1 dynein axonemal heavy chain 14 isoform 7
NM_001367481.1 NP_001354410.1 dynein axonemal heavy chain 14 isoform 6
NM_144989.3 NP_659426.2 dynein axonemal heavy chain 14 isoform 3

DNAH14 蛋白结构

AAA_6

AAA_6: Hydrolytic ATP binding site of dynein motor region D1 (1126 - 1180)

AAA_6

AAA_6: Hydrolytic ATP binding site of dynein motor region D1 (1220 - 1327)

AAA_8

AAA_8: P-loop containing dynein motor region D4 (2011 - 2243)

MT

MT: Microtubule-binding stalk of dynein motor (2258 - 2488)

AAA_9

AAA_9: ATP-binding dynein motor region D5 (2496 - 2575)

AAA_9

AAA_9: ATP-binding dynein motor region D5 (2582 - 2687)

Dynein_heavy

Dynein_heavy: Dynein heavy chain and region D6 of dynein motor (3017 - 3073)

Dynein_heavy

Dynein_heavy: Dynein heavy chain and region D6 of dynein motor (3072 - 3279)

Dynein_heavy

Dynein_heavy: Dynein heavy chain and region D6 of dynein motor (3318 - 3503)

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  • 3507 a.a.
蛋白主名 其他名称

dynein axonemal heavy chain 14

axonemal beta dynein heavy chain 14

关联疾病

疾病名称 别名
Brain Compression

Compression Of Brain

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
Canis familiaris DNAH14 VGNC VGNC:49870
Bos taurus DNAH14 VGNC VGNC:106713
Felis catus DNAH14 VGNC VGNC:107867
Mus musculus DNAH14 MGD MGI:2444525
Rattus norvegicus DNAH14 RGD RGD:1582826