1. Gene
  2. DNAH17 - dynein axonemal heavy chain 17 Gene

DNAH17 - dynein axonemal heavy chain 17 Gene

中文名称:动力蛋白轴丝重链 17

种属: Homo sapiens

同用名: DNEL2; DNAHL1; SPGF39

基因 ID: 8632 | 基因类型: protein coding

关于 DNAH17

Cytogenetic location: 17q25.3 Genomic coordinates (GRCh38): 17:78,423,697-78,577,396 (from NCBI)

This gene has 10 transcripts (splice variants), 233 orthologues, 15 paralogues and is associated with 2 phenotypes. Biased expression in testis (RPKM 7.4), brain (RPKM 1.0) and 4 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。 DNAH17 是与轴丝动力蛋白相关的重链 (Milisav 和 Affara,1998 [PubMed 9545504]) 。[OMIM 提供,2008 年 3 月]

Dyneins are microtubule-associated motor protein complexes composed of several heavy, light, and intermediate chains. DNAH17 is a heavy chain associated with axonemal dynein (Milisav and Affara, 1998 [PubMed 9545504]).[supplied by OMIM, Mar 2008]

DNAH17 基因产物(1)

mRNA Protein Name
NM_173628.4 NP_775899.3 dynein axonemal heavy chain 17
基因本体论
  • 生物过程
  • 细胞组分
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in outer dynein arm assembly IDA
IDA: 通过直接分析推断
31178125 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
31178125 GOA
part of outer dynein arm IDA
IDA: 通过直接分析推断
31178125 GOA
located in sperm flagellum IDA
IDA: 通过直接分析推断
31178125 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

DNAH17 蛋白结构

DHC_N1

DHC_N1: Dynein heavy chain, N-terminal region 1 (186 - 768)

DHC_N2

DHC_N2: Dynein heavy chain, N-terminal region 2 (1263 - 1675)

AAA_6

AAA_6: Hydrolytic ATP binding site of dynein motor region D1 (1795 - 2025)

AAA_5

AAA_5: AAA domain (dynein-related subfamily) (2110 - 2244)

AAA_7

AAA_7: P-loop containing dynein motor region D3 (2402 - 2673)

AAA_8

AAA_8: P-loop containing dynein motor region D4 (2750 - 3017)

MT

MT: Microtubule-binding stalk of dynein motor (3029 - 3372)

AAA_9

AAA_9: ATP-binding dynein motor region D5 (3390 - 3617)

Dynein_heavy

Dynein_heavy: Dynein heavy chain and region D6 of dynein motor (3746 - 4484)

  • 0
  • 700
  • 1400
  • 2100
  • 2800
  • 3500
  • 4200
  • 4485 a.a.
蛋白主名 其他名称

dynein axonemal heavy chain 17

axonemal beta dynein heavy chain 17

关联疾病

疾病名称 别名
Spermatogenic Failure 39

SPGF39

Non-Syndromic Male Infertility Due To Sperm Motility Disorder

Non-Syndromic Male Infertility Due Asthenozoospermia

Pontocerebellar Hypoplasia, Type 2d

Pontocerebellar Hypoplasia Type 2d

Pcca

PCH2D

Progressive Cerebello-Cerebral Atrophy

Cerebellocerebral Atrophy, Progressive

Pontocerebellar Hypoplasia 2d

Progressive Cerebellocerebral Atrophy

Hypoplasia, Pontocerebellar, Type 2d

Infertility
Spermatogenic Failure

Azoospermia

Spgf

Spermatogenic Failure, Susceptibility To

Absent Sperm

Aspermatogenesis

Infertility Due To Azoospermia

Hypospermatogenesis

Azoospermatism

Spermatogenic Failure 9

Male Infertility Due To Globozoospermia

SPGF9

Male Infertility Due To Round-Headed Spermatozoa

Globozoospermia, Complete

Globozoospermia, Total

Globozoospermia

Globozoospermia Syndrome

Round-Headed Sperm Syndrome

Globozoospermia Complete

Globozoospermia Total

Tylosis With Esophageal Cancer

Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome

TOC

Keratosis Palmaris Et Plantaris With Esophageal Cancer

Bennion-Patterson Syndrome

Howell-Evans Syndrome

Keratosis Palmoplantaris-Esophageal Carcinoma Syndrome

Palmoplantar Hyperkeratosis-Esophageal Carcinoma Syndrome

Tylosis-Oesophageal Carcinoma Syndrome

Palmoplantar Keratoderma With Esophageal Cancer

Howel-Evans Syndrome

Keratosis Palmoplantaris With Esophageal Cancer

Tylosis - Oesophageal Carcinoma

Howel-Evans' Syndrome

Pelvic Varices

Varix Of Pelvis

Pelvic Varicose Vein

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

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
Mus musculus DNAH17 MGD MGI:1917176
Rattus norvegicus DNAH17 RGD RGD:1563805
Canis familiaris DNAH17 VGNC VGNC:40014
Bos taurus DNAH17 VGNC VGNC:28124