2. Gene
  3. DNAH11 - dynein axonemal heavy chain 11 Gene

DNAH11 - dynein axonemal heavy chain 11 Gene

  • Gene
  • Protein
  • Disease
  • Agent
  • Ortholog
Homo sapiens

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

Gene ID: 8701 | Gene type: protein coding

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 Reference 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 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
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_N1: Dynein heavy chain, N-terminal region 1 (239 - 814)

DHC_N2

DHC_N2: Dynein heavy chain, N-terminal region 2 (1314 - 1725)

AAA_6

AAA_6: Hydrolytic ATP binding site of dynein motor region D1 (1855 - 2084)

AAA_5

AAA_5: AAA domain (dynein-related subfamily) (2170 - 2313)

AAA_7

AAA_7: P-loop containing dynein motor region D3 (2471 - 2741)

AAA_8

AAA_8: P-loop containing dynein motor region D4 (2818 - 3085)

MT

MT: Microtubule-binding stalk of dynein motor (3097 - 3441)

AAA_9

AAA_9: ATP-binding dynein motor region D5 (3458 - 3685)

Dynein_heavy

Dynein_heavy: Dynein heavy chain and region D6 of dynein motor (3814 - 4514)

  • 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
Bioactive Molecules (1)
Cat. No. Product Name Effect
Purity Rare Diseases
HY-RS03844 DNAH11 Human Pre-designed siRNA Set A Pre-designed Sets / 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