DNAH11 - dynein axonemal heavy chain 11 Gene

Also Known as CILD7; DNHBL; DPL11; DNAHBL; DNAHC11

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 8701

About DNAH11

Cytogenetic location: 7p15.3 Genomic coordinates (GRCh38): 7:21,543,039-21,901,839 (from NCBI)

This gene has 10 transcripts (splice variants), 189 orthologues, 15 paralogues and is associated with 2 phenotypes. Broad expression in thyroid (RPKM 1.1), lung (RPKM 1.1) and 25 other tissues.

Summary

This gene encodes a ciliary outer dynein arm protein and is a member of the dynein heavy chain family. It is a microtubule-dependent motor ATPase and has been reported to be involved in the movement of respiratory cilia. Mutations in this gene have been implicated in causing Kartagener Syndrome (a combination of situs inversus totalis and Primary Ciliary Dyskinesia (PCD), also called Immotile Cilia Syndrome 1 (ICS1)) and male sterility. [provided by RefSeq, Mar 2013]

DNAH11 Products (1)

mRNA	Protein	Name
NM_001277115.2	NP_001264044.1	dynein axonemal heavy chain 11

Gene Ontology

Biological Process
Cellular Component

Biological Process GO Annotation	Evidence	References	Source
acts upstream of or within determination of left/right symmetry	IMP IMP: Inferred from mutant phenotype	12142464	GOA
acts upstream of or within flagellated sperm motility	IMP IMP: Inferred from mutant phenotype	18492703	GOA
involved in protein localization to motile cilium	IMP IMP: Inferred from mutant phenotype	33139725	GOA
acts upstream of or within regulation of cilium beat frequency	IMP IMP: Inferred from mutant phenotype	18022865	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in 9+2 motile cilium	IDA IDA: Inferred from direct assay	26909801	GOA
located in axoneme	IDA IDA: Inferred from direct assay	31178125	GOA
located in motile cilium	IDA IDA: Inferred from direct assay	31178125	GOA
located in proximal portion of axoneme	IDA IDA: Inferred from direct assay	26909801	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

DNAH11 Protein Structure

DHC_N1

DHC_N2

AAA_6

AAA_5

AAA_7

AAA_8

AAA_9

Dynein_heavy

0
700
1400
2100
2800
3500
4200
4516 a.a.

Protein Preferred Names	Protein Names
dynein axonemal heavy chain 11	axonemal beta dynein heavy chain 11

Related Diseases

Diseases	Alias
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
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
Situs Inversus	Situs Inversus Viscerum Laterality Sequence Complete Transposition Siv
Kartagener Syndrome	Kartagener'S Syndrome
Dextrocardia With Situs Inversus	Situs Inversus Totalis Complete Situs Inversus Complete Situs Inversus Viscerum Situs Inversus
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
Bronchiectasis	Polynesian Bronchiectasis Kartagener Syndrome Bronchiectasis Nos
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
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
Paranasal Sinus Disease	Paranasal Sinus Diseases Disorder Of Nasal Sinus
Middle Ear Disease	Middle Ear Anomaly Disorder Of Middle Ear
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
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
Dyslexia
Otorrhea	Discharging Ear
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
Chronic Rhinitis	Rhinitis - Chronic Chronic Rhinitis Nos Rhinitis Rhinitis 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
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
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

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)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS03844	DNAH11 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Felis catus	DNAH11	VGNC	VGNC:82415
Rattus norvegicus	DNAH11	RGD	RGD:621088
Mus musculus	DNAH11	MGD	MGI:1100864
Canis familiaris	DNAH11	VGNC	VGNC:40013
Macaca mulatta	DNAH11	VGNC	VGNC:71939
Others	DNAH11	NCBI