DNAH1 - dynein axonemal heavy chain 1 Gene

Also Known as HL11; HDHC7; HL-11; CILD37; DNAHC1; HSRF-1; SPGF18; XLHSRF-1

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 25981

About 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.

Summary

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 Products (1)

mRNA Protein Name
NM_015512.5 NP_056327.4 dynein axonemal heavy chain 1

Gene Ontology

  • Biological Process
  • Cellular Component
Biological Process GO Annotation Evidence Referencias Source
acts upstream of or within flagellated sperm motility IMP
IMP: Inferred from mutant phenotype
24360805 GOA
involved in flagellated sperm motility IMP
IMP: Inferred from mutant phenotype
27798045 GOA
acts upstream of or within inner dynein arm assembly IDA
IDA: Inferred from direct assay
24360805 GOA
involved in sperm axoneme assembly IMP
IMP: Inferred from mutant phenotype
24360805 GOA
Cellular Component GO Annotation Evidence Referencias Source
located in axoneme IMP
IMP: Inferred from mutant phenotype
24360805 GOA
part of inner dynein arm IDA
IDA: Inferred from direct assay
24360805 GOA
located in sperm flagellum IDA
IDA: Inferred from direct assay
11371505 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

DNAH1 Protein Structure

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.
Protein Preferred Names Protein Names

dynein axonemal heavy chain 1

  • axonemal beta dynein heavy chain 1

Related Diseases

Diseases Alias
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
Diseases Alias
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

Related Agents

  • Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)
Referencia número Nombre del producto
Efecto
Pureza
Rare Diseases
HY-RS03842 DNAH1 Human Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

Species Symbol Source 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
Others DNAH1 NCBI