2. Gene
  3. DNAH1 - dynein axonemal heavy chain 1 Gene

DNAH1 - dynein axonemal heavy chain 1 Gene

  • 基因
  • 蛋白
  • 疾病
  • 相关产品
  • 直系同源

中文名称：动力蛋白轴丝重链 1

种属: Homo sapiens

同用名: HL11; HDHC7; HL-11; CILD37; DNAHC1; HSRF-1; SPGF18; XLHSRF-1

基因 ID: 25981 | 基因类型: protein coding

关于 DNAH1

Cytogenetic location: 3p21.1 Genomic coordinates (GRCh38): 3:52,310,920-52,400,492 (from NCBI)

This gene has 8 transcripts (splice variants), 246 orthologues, 15 paralogues and is associated with 4 phenotypes. Broad expression in testis (RPKM 4.1), bone marrow (RPKM 2.9) and 25 other tissues.

功能概要

该基因编码一条内部动力蛋白臂重链，该重链在径向辐条和精子尾部的外部双联体之间提供结构支持。该基因中自然发生的突变与原发性纤毛运动障碍和鞭毛的多种形态异常相关，可导致弱精子症和男性不育症。直向同源基因纯合敲除的小鼠可以存活，但精子活力降低且不育。[RefSeq 提供，2017 年 2 月]

This gene encodes an inner dynein arm heavy chain that provides structural support between the radial spokes and the outer doublet of the sperm tail. Naturally occurring mutations in this gene are associated with primary ciliary dyskinesia and multiple morphological anomalies of the flagella that result in asthenozoospermia and male infertility. Mice with a homozygous knockout of the orthologous gene are viable but have reduced sperm motility and are infertile. [provided by RefSeq, Feb 2017]

DNAH1 基因产物(1)

mRNA Protein Name
NM_015512.5 NP_056327.4 dynein axonemal heavy chain 1
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
acts upstream of or within flagellated sperm motility IMP
IMP: 通过突变表型推断
24360805 GOA
involved in flagellated sperm motility IMP
IMP: 通过突变表型推断
27798045 GOA
acts upstream of or within inner dynein arm assembly IDA
IDA: 通过直接分析推断
24360805 GOA
involved in sperm axoneme assembly IMP
IMP: 通过突变表型推断
24360805 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in axoneme IMP
IMP: 通过突变表型推断
24360805 GOA
part of inner dynein arm IDA
IDA: 通过直接分析推断
24360805 GOA
located in sperm flagellum IDA
IDA: 通过直接分析推断
11371505 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

DNAH1 蛋白结构

DHC_N2

DHC_N2: Dynein heavy chain, N-terminal region 2 (1012 - 1420)

AAA_6

AAA_6: Hydrolytic ATP binding site of dynein motor region D1 (1543 - 1773)

AAA_5

AAA_5: AAA domain (dynein-related subfamily) (1858 - 2002)

AAA_7

AAA_7: P-loop containing dynein motor region D3 (2188 - 2471)

AAA_8

AAA_8: P-loop containing dynein motor region D4 (2548 - 2817)

MT

MT: Microtubule-binding stalk of dynein motor (2831 - 3175)

AAA_9

AAA_9: ATP-binding dynein motor region D5 (3202 - 3426)

Dynein_heavy

Dynein_heavy: Dynein heavy chain and region D6 of dynein motor (3558 - 4261)

  • 0
  • 700
  • 1400
  • 2100
  • 2800
  • 3500
  • 4265 a.a.
蛋白主名 其他名称

dynein axonemal heavy chain 1

axonemal beta dynein heavy chain 1

关联疾病

疾病名称 别名
Ciliary Dyskinesia, Primary, 37

CILD37

Ciliary Dyskinesia, Primary, 37, With Or Without Situs Inversus

Primary Ciliary Dyskinesia 37

Dyskinesia, Ciliary, Primary, Type 37
Spermatogenic Failure 18

SPGF18
Non-Syndromic Male Infertility Due To Sperm Motility Disorder

Non-Syndromic Male Infertility Due Asthenozoospermia
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
Infertility
Ciliary Dyskinesia, Primary, 3

Primary Ciliary Dyskinesia 3

CILD3

Ciliary Dyskinesia, Primary, 3, With Or Without Situs Inversus

Primary Ciliary Dyskinesia 3 With Or Without Situs Inversus

Ics3

Immotile Cilia Syndrome 3

Dyskinesia, Ciliary, Primary, 3
Male Infertility

Infertility, Male

Infertility Male

Male Sterility

Absolute Infertility
Ciliary Dyskinesia, Primary, 7

Primary Ciliary Dyskinesia 7

CILD7

Ciliary Dyskinesia, Primary, 7, With Or Without Situs Inversus

Primary Ciliary Dyskinesia 7 With Or Without Situs Inversus

Ics7

Immotile Cilia Syndrome 7

Dyskinesia, Ciliary, Primary, 7
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
Kartagener Syndrome

Kartagener'S Syndrome
Spermatogenic Failure

Azoospermia

Spgf

Spermatogenic Failure, Susceptibility To

Absent Sperm

Aspermatogenesis

Infertility Due To Azoospermia

Hypospermatogenesis

Azoospermatism
Sweeney-Cox Syndrome

SWCOS
Situs Inversus

Situs Inversus Viscerum

Laterality Sequence

Complete Transposition

Siv
Cardiomyopathy, Familial Hypertrophic, 26

Hypertrophic Cardiomyopathy 26

CMH26

Cardiomyopathy, Familial Restrictive 5

Cardiomyopathy, Familial Restrictive, 5

Cardiomyopathy Familial Hypertrophic 26

Cardiomyopathy, Familial Hypertrophic 26

RCM5
Testicular Leydig Cell Tumor

Testicular Leydig Cell Neoplasm

Leydig Cell Tumor Of Testis

Interstitial Cell Neoplasm Of Testis
Testicular Sex Cord-Stromal Neoplasm

Sex Cord-Stromal Tumor Of Testis

Testicular Sex Cord-Stromal Tumor
Spermatogenic Failure 16

SPGF16

Acephalic Spermatozoa Syndrome

Spermatozoa, Acephalic
Male Infertility Due To Acephalic Spermatozoa

Acephalic Spermatozoa Syndrome
Oligoasthenoteratozoospermia

Oat

Oligoasthenoteratospermia
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

相关产品

Pre-clinical Phase
生物活性分子 (1)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-RS03842 DNAH1 Human Pre-designed siRNA Set A Pre-designed Set / 否

直系同源

种属 基因名 来源 基因 ID
Bos taurus DNAH1 VGNC VGNC:28122
Mus musculus DNAH1 MGD MGI:107721
Rattus norvegicus DNAH1 RGD RGD:621795
Canis familiaris DNAH1 VGNC VGNC:40011
Felis catus DNAH1 VGNC VGNC:61541
Macaca mulatta DNAH1 VGNC VGNC:71937
嗨！很高兴为您提供帮助！

尊敬的 MCE 客户您好，
请您选择所在区域，我们将转接对应客服为您服务！

热门区域

A

B

C

F

G

H

J

L

N

Q

S

T

X

Y

Z

热 A B C F G H J L N Q S T X Y Z