DNAH5 - dynein axonemal heavy chain 5 Gene

Homo sapiens

Also known as HL1; PCD; CILD3; KTGNR; DNAHC5

Gene ID: 1767 | Gene type: protein coding

About DNAH5

Cytogenetic location: 5p15.2 Genomic coordinates (GRCh38): 5:13,690,328-14,011,818 (from NCBI)

This gene has 14 transcripts (splice variants), 221 orthologues, 15 paralogues and is associated with 3 phenotypes. Biased expression in lung (RPKM 1.0), thyroid (RPKM 0.6) and 10 other tissues.

Summary

This gene encodes a dynein protein, which is part of a microtubule-associated motor protein complex consisting of heavy, LIGHT, and intermediate chains. This protein is an axonemal heavy chain dynein. It functions as a force-generating protein with ATPase activity, whereby the release of ADP is thought to produce the force-producing power stroke. Mutations in this gene cause primary ciliary dyskinesia type 3, as well as Kartagener syndrome, which are both diseases due to ciliary defects. [provided by RefSeq, Oct 2009]

DNAH5 Products(1)

mRNA	Protein	Name
NM_001369.3	NP_001360.1	dynein axonemal heavy chain 5

Gene Ontology

Biological Process
Cellular Component

Biological Process GO Annotation	Evidence	Reference	Source
acts upstream of or within cilium assembly	IMP IMP: Inferred from mutant phenotype	16492982	GOA
acts upstream of or within cilium movement	IMP IMP: Inferred from mutant phenotype	11062149	GOA
acts upstream of or within determination of left/right symmetry	IMP IMP: Inferred from mutant phenotype	11788826	GOA
acts upstream of or within flagellated sperm motility	IMP IMP: Inferred from mutant phenotype	15750039	GOA
acts upstream of or within outer dynein arm assembly	IMP IMP: Inferred from mutant phenotype	11062149	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in 9+2 motile cilium	IDA IDA: Inferred from direct assay	26909801	GOA
located in axoneme	IDA IDA: Inferred from direct assay	15750039	GOA
located in cytoplasm	IDA IDA: Inferred from direct assay	29916806	GOA
located in motile cilium	IDA IDA: Inferred from direct assay	31178125	GOA
part of outer dynein arm	IDA IDA: Inferred from direct assay	16627867	GOA
part of outer dynein arm	IMP IMP: Inferred from mutant phenotype	11062149	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

DNAH5 Protein Structure

DHC_N1

DHC_N2

AAA_6

AAA_5

AAA_7

AAA_8

AAA_9

Dynein_heavy

0
800
1600
2400
3200
4000
4624 a.a.

Protein Preferred Names

Protein Names

dynein axonemal heavy chain 5

axonemal beta dynein heavy chain 5

Related Diseases

Diseases

Alias

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

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

Situs Inversus

Situs Inversus Viscerum	Laterality Sequence
Complete Transposition	Siv

Male Infertility

Infertility, Male	Infertility Male
Male Sterility	Absolute Infertility

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

Kartagener Syndrome

Kartagener'S Syndrome

Ciliary Dyskinesia, Primary, 1

CILD1	Pcd
Primary Ciliary Dyskinesia 1	Kartagener Syndrome
Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus	Immotile Cilia Syndrome
Ics	Polynesian Bronchiectasis
Primary Ciliary Dyskinesia 1 With Or Without Situs Inversus	Ics1
Immotile Cilia Syndrome 1	Primary Ciliary Dyskinesia
KTGS	Dextrocardia-Bronchiectasis-Sinusitis Syndrome
Immotile Cilia Syndrome Kartagener Type	Primary Ciliary Dyskinesia Kartagener Type
Siewert Syndrome	Immotile Cilia
Dyskinesia, Ciliary, Primary, Type 1	Ciliary Motility Disorders

Bronchiectasis

Polynesian Bronchiectasis	Kartagener Syndrome
Bronchiectasis Nos

Paranasal Sinus Disease

Paranasal Sinus Diseases

Disorder Of Nasal Sinus

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

Ciliary Dyskinesia, Primary, 4

Primary Ciliary Dyskinesia 4	CILD4
Ciliary Dyskinesia, Primary, 4, With Or Without Situs Inversus	Primary Ciliary Dyskinesia 4 With Or Without Situs Inversus
Primary Ciliary Dyskinesia, 4

Ciliary Dyskinesia, Primary, 8

Primary Ciliary Dyskinesia 8	CILD8
Ciliary Dyskinesia, Primary, 8, With Or Without Situs Inversus	Primary Ciliary Dyskinesia 8 With Or Without Situs Inversus

Middle Ear Disease

Middle Ear Anomaly

Disorder Of Middle Ear

Cri-Du-Chat Syndrome

5p Deletion Syndrome	5p Partial Monosomy Syndrome
Monosomy 5p	Cat Cry Syndrome
Chromosome 5p Deletion Syndrome	Cri Du Chat Syndrome
5p- Syndrome	5p Minus Syndrome
Chromosome 5p- Syndrome	Chromosome 5 Short Arm Deletion Syndrome
Chromosome 5p Deletion	Deletion 5p
Cri Du Chat	5p Partial Deletion Syndrome
Partial Deletion Of Short Arm Of Chromosome 5 Syndrome

Postaxial Acrofacial Dysostosis

Miller Syndrome	POADS
Genee-Wiedemann Syndrome	Postaxial Acrodysostosis
Genee-Wiedemann Acrofacial Dysostosis	Acrofacial Dysostosis, Genee-Wiedmann Type
Mandibulfacial Dysostosis With Postaxial Limb Anomalies	Gwafd
Poads Syndrome	Postaxial Acrofacial Dysostosis Syndrome
Wildervanck-Smith Syndrome	Acrofacial Dysostosis, Genee-Wiedemann Type
Mandibulofacial Dysostosis With Postaxial Limb Anomalies	Genée-Wiedemann Syndrome
Chromosome 11p Deletion Syndrome

Dextrocardia

Heart Predominantly In Right Hemithorax	Heart In Right Chest
Right-Sided Heart	Congenital Dextrocardia Of Heart
Transposition Of Heart

Right Atrial Isomerism

Ivemark Syndrome	Asplenia With Cardiovascular Anomalies
RAI	Asplenia Syndrome
Asplenia	Right Isomerism
Splenic Agenesis Syndrome	Bilateral Right-Sidedness Sequence
Right Sided Atrial Isomerism	Isomerism Of Right Atrial Appendage
Heterotaxy, Visceroatrial, Autosomal Recessive	Polyasplenia
Vah, Autosomal Recessive	Atrial Isomerism, Right
Congenital Absence Of Spleen	Bilateral Right-Sidedness

Ciliary Dyskinesia, Primary, 30

Primary Ciliary Dyskinesia 30	CILD30
Ciliary Dyskinesia, Primary, 30, With Or Without Situs Inversus	Primary Ciliary Dyskinesia 30 Without Situs Inversus
Primary Ciliary Dyskinesia 30 With Or Without Situs Inversus	Dyskinesia, Ciliary, Primary, Type 30

Chronic Rhinitis

Rhinitis - Chronic	Chronic Rhinitis Nos
Rhinitis	Rhinitis Nos

Dyslexia

Supraglottis Neoplasm

Neoplasm Of Supraglottis

Supraglottic Tumor

Retinitis Pigmentosa

RP	Rod-Cone Dystrophy
Autosomal Recessive Retinitis Pigmentosa	Non-Syndromic Retinitis Pigmentosa
Pericentral Pigmentary Retinopathy	Pigmentary Retinopathy
Tapetoretinal Degeneration	Rcd
Retinitis Pigmentosa Autosomal Recessive	ARRP
Retinitis Pigmentosa, Autosomal Recessive	Retinitis Pigmentosa 1

Astigmatism

Transposition Of The Great Arteries, Dextro-Looped

Transposition Of The Great Arteries	DTGA1
Dextro-Looped Transposition Of The Great Arteries	DTGA
Congenitally Uncorrected Transposition Of The Great Arteries	Congenitally Uncorrected Transposition Of The Great Vessels
D-Tga	Isolated Ventriculoarterial Discordance
Ventriculoarterial Discordance With Atrioventricular Concordance	Dextro-Transposition Of The Great Arteries
Transposition Of The Great Vessels	Great Vessels Transposition
Transposition Of The Great Arteries, Dextro-Looped 1	Arteries, Great, Transposition, Dextro-Looped
Ventriculoarterial Discordance, Isolated	D-Transposition Of The Great Arteries
Complete Transposition	Tga
Tgv	Transposition Of Great Vessels
Transposition Of The Great Arteries Dextro-Looped 1	Dextro-Looped Transposition Of The Great Arteries 1
Discordant Ventriculoarterial Connection	Complete Transposition Of Great Vessels
Great Vessels Complete Transposition	Total Great Vessel Transposition
Transposition Of Great Arteries	Complete Tga - [Transposition Of The Great Arteries]
Tga - [Transposition Of Great Arteries]	Tgv - [Transposition Of Great Vessels]
Transposition Of Great Vessels Nos	Transposed Vessels Nos

Meckel Syndrome, Type 1

Meckel-Gruber Syndrome	Meckel Syndrome
Dysencephalia Splanchnocystica	Meckel Syndrome 1
MKS1	Mks
Gruber Syndrome	Meckel-Gruber Syndrome, Type 1
Mes	Dysencephalia Splachnocystica
Meckel Gruber Syndrome	Meckel Syndrome Type 1

Double Outlet Right Ventricle

Double Outlet Right Ventricle With Subpulmonary Ventricular Septal Defect	Taussig-Bing Syndrome
Dextrotransposition Of Aorta	Taussig-Bing Syndrome Or Defect
Dorv	Dorv With Subpulmonary Vsd
Dorv-Tga	Double Outlet Right Ventricle With Transposition Of The Great Arteries
Double Outlet Right Ventricle With Subpulmonary Interventricular Communication, Transposition Type	Taussig-Bing Heart
Taussig-Bing Malformation	Taussig-Bing Complex
Taussig-Bing Defect	Taussig-Bing
Double Outlet Right Ventricle With Remote Ventricular Septal Defect	Double Outlet Right Ventricle With Uncommitted Ventricular Septal Defect
Double Outlet Right Ventricle With Non-Committed Interventricular Communication	Double Outlet Right Ventricle With Subaortic Or Doubly Committed Interventricular Communication Without Pulmonary Stenosis
Double Outlet Right Ventricle With Subaortic Or Doubly Committed Interventricular Communication And Pulmonary Stenosis

Spermatogenic Failure

Azoospermia	Spgf
Spermatogenic Failure, Susceptibility To	Absent Sperm
Aspermatogenesis	Infertility Due To Azoospermia
Hypospermatogenesis	Azoospermatism

Tetralogy Of Fallot

TOF	Fallot Tetralogy
Ventricular Septal Defect With Pulmonary Stenosis Or Atresia, Dextraposition Of Aorta, And Hypertrophy Of Right Ventricle	Tetrad Of Fallot
Fallot Tetrad	Fallot Disease
Fallot Complex	Subpulmonic Stenosis, Ventricular Septal Defect, Overriding Aorta, And Right Ventricular Hypertrophy
Interventricular Septal Defect With Dextroposition Of Aorta, Pulmonary Stenosis And Hypertrophy Of Right Ventricle	Interventricular Septal Defect, In Tetralogy Of Fallot
Ventricular Septal Defect With Obstructed Right Ventricular Outflow	Tof - [Tetralogy Of Fallot]
Pulmonary Atresia With Ventricular Septal Defect [Fallot Type]	Pulmonary Atresia, Ventricular Septal Defect And Mapcas
Pulmonary Atresia With Ventricular Septal Defect And Systemic-To-Pulmonary Collateral Arteries [Fallot Type]

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

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS03850	DNAH5 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Macaca mulatta	DNAH5	VGNC	VGNC:71942
Mus musculus	DNAH5	MGD	MGI:107718
Bos taurus	DNAH5	VGNC	VGNC:28126
Canis familiaris	DNAH5	VGNC	VGNC:40016
Rattus norvegicus	DNAH5	RGD	RGD:1560828
Felis catus	DNAH5	VGNC	VGNC:61545

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