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Aliases for DNAH11 Gene

Aliases for DNAH11 Gene

  • Dynein Axonemal Heavy Chain 11 2 3
  • Dynein, Axonemal, Heavy Polypeptide 11 2 3
  • Axonemal Beta Dynein Heavy Chain 11 3 4
  • Dynein, Axonemal, Heavy Chain 11 3 5
  • Ciliary Dynein Heavy Chain 11 3 4
  • Dynein, Ciliary, Heavy Chain 11 3
  • Axonemal Dynein Heavy Chain 11 3
  • Heavy Chain Beta-Like 2
  • Heavy Chain 11 2
  • Ciliary 2
  • DNAHC11 3
  • Dynein 2
  • DNAHBL 3
  • CILD7 3
  • DNHBL 3
  • DPL11 3

External Ids for DNAH11 Gene

Previous GeneCards Identifiers for DNAH11 Gene

  • GC07P021227
  • GC07P021327
  • GC07P021356
  • GC07P021549
  • GC07P021468

Summaries for DNAH11 Gene

Entrez Gene Summary for DNAH11 Gene

  • 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]

GeneCards Summary for DNAH11 Gene

DNAH11 (Dynein Axonemal Heavy Chain 11) is a Protein Coding gene. Diseases associated with DNAH11 include ciliary dyskinesia, primary, 7, with or without situs inversus and primary ciliary dyskinesia 7: dnah11-related primary ciliary dyskinesia. Among its related pathways are Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.. GO annotations related to this gene include ATPase activity and microtubule motor activity. An important paralog of this gene is DNAH1.

UniProtKB/Swiss-Prot for DNAH11 Gene

  • Force generating protein of respiratory cilia. Produces force towards the minus ends of microtubules. Dynein has ATPase activity; the force-producing power stroke is thought to occur on release of ADP.

Gene Wiki entry for DNAH11 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for DNAH11 Gene

Genomics for DNAH11 Gene

Regulatory Elements for DNAH11 Gene

Enhancers for DNAH11 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around DNAH11 on UCSC Golden Path with GeneCards custom track

Promoters for DNAH11 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around DNAH11 on UCSC Golden Path with GeneCards custom track

Genomic Location for DNAH11 Gene

Chromosome:
7
Start:
21,543,215 bp from pter
End:
21,901,839 bp from pter
Size:
358,625 bases
Orientation:
Plus strand

Genomic View for DNAH11 Gene

Genes around DNAH11 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
DNAH11 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for DNAH11 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DNAH11 Gene

Proteins for DNAH11 Gene

  • Protein details for DNAH11 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96DT5-DYH11_HUMAN
    Recommended name:
    Dynein heavy chain 11, axonemal
    Protein Accession:
    Q96DT5
    Secondary Accessions:
    • Q9UJ82

    Protein attributes for DNAH11 Gene

    Size:
    4516 amino acids
    Molecular mass:
    520369 Da
    Quaternary structure:
    • Consists of at least two heavy chains and a number of intermediate and light chains.

neXtProt entry for DNAH11 Gene

Proteomics data for DNAH11 Gene at MOPED

Post-translational modifications for DNAH11 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for DNAH11 Gene

No data available for DME Specific Peptides for DNAH11 Gene

Domains & Families for DNAH11 Gene

Gene Families for DNAH11 Gene

Graphical View of Domain Structure for InterPro Entry

Q96DT5

UniProtKB/Swiss-Prot:

DYH11_HUMAN :
  • Dynein heavy chains probably consist of an N-terminal stem (which binds cargo and interacts with other dynein components), and the head or motor domain. The motor contains six tandemly-linked AAA domains in the head, which form a ring. A stalk-like structure (formed by two of the coiled coil domains) protrudes between AAA 4 and AAA 5 and terminates in a microtubule-binding site. A seventh domain may also contribute to this ring; it is not clear whether the N-terminus or the C-terminus forms this extra domain. There are four well-conserved and two non-conserved ATPase sites, one per AAA domain. Probably only one of these (within AAA 1) actually hydrolyzes ATP, the others may serve a regulatory function.
  • Belongs to the dynein heavy chain family.
Domain:
  • Dynein heavy chains probably consist of an N-terminal stem (which binds cargo and interacts with other dynein components), and the head or motor domain. The motor contains six tandemly-linked AAA domains in the head, which form a ring. A stalk-like structure (formed by two of the coiled coil domains) protrudes between AAA 4 and AAA 5 and terminates in a microtubule-binding site. A seventh domain may also contribute to this ring; it is not clear whether the N-terminus or the C-terminus forms this extra domain. There are four well-conserved and two non-conserved ATPase sites, one per AAA domain. Probably only one of these (within AAA 1) actually hydrolyzes ATP, the others may serve a regulatory function.
Family:
  • Belongs to the dynein heavy chain family.
genes like me logo Genes that share domains with DNAH11: view

Function for DNAH11 Gene

Molecular function for DNAH11 Gene

GENATLAS Biochemistry:
dynein,axonemal,motor protein,interacting with microtubules,heavy chain 11,outer arm,expressed in trachea and testis,involved in intracellular movement of organelles and vesicles or in the orientation of the mitotic spindle apparatus,with ATPase activity
UniProtKB/Swiss-Prot Function:
Force generating protein of respiratory cilia. Produces force towards the minus ends of microtubules. Dynein has ATPase activity; the force-producing power stroke is thought to occur on release of ADP.
genes like me logo Genes that share phenotypes with DNAH11: view

Human Phenotype Ontology for DNAH11 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for DNAH11 Gene

MGI Knock Outs for DNAH11:

Animal Model Products

CRISPR Products

miRNA for DNAH11 Gene

miRTarBase miRNAs that target DNAH11

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Transcription Factor Targets and HOMER Transcription for DNAH11 Gene

Localization for DNAH11 Gene

Subcellular locations from UniProtKB/Swiss-Prot for DNAH11 Gene

Cytoplasm, cytoskeleton, cilium axoneme.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for DNAH11 Gene COMPARTMENTS Subcellular localization image for DNAH11 gene
Compartment Confidence
cytoskeleton 4
cytosol 2
mitochondrion 1
nucleus 1
peroxisome 1
plasma membrane 1

No data available for Gene Ontology (GO) - Cellular Components for DNAH11 Gene

Pathways & Interactions for DNAH11 Gene

genes like me logo Genes that share pathways with DNAH11: view

Pathways by source for DNAH11 Gene

1 KEGG pathway for DNAH11 Gene

Interacting Proteins for DNAH11 Gene

Gene Ontology (GO) - Biological Process for DNAH11 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007368 determination of left/right symmetry IEA,IMP 12142464
GO:0008152 metabolic process IEA --
genes like me logo Genes that share ontologies with DNAH11: view

No data available for SIGNOR curated interactions for DNAH11 Gene

Drugs & Compounds for DNAH11 Gene

No Compound Related Data Available

Transcripts for DNAH11 Gene

Unigene Clusters for DNAH11 Gene

Dynein, axonemal, heavy chain 11:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for DNAH11 Gene

No ASD Table

Relevant External Links for DNAH11 Gene

GeneLoc Exon Structure for
DNAH11
ECgene alternative splicing isoforms for
DNAH11

Expression for DNAH11 Gene

mRNA expression in normal human tissues for DNAH11 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for DNAH11 Gene

This gene is overexpressed in Adrenal Gland (x6.7), Esophagus - Muscularis (x6.2), Esophagus - Gastroesophageal Junction (x5.6), and Fallopian Tube (x4.1).

Protein differential expression in normal tissues from HIPED for DNAH11 Gene

This gene is overexpressed in Spleen (34.5), Pancreatic juice (21.5), and Testis (8.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for DNAH11 Gene



SOURCE GeneReport for Unigene cluster for DNAH11 Gene Hs.520245

genes like me logo Genes that share expression patterns with DNAH11: view

Protein tissue co-expression partners for DNAH11 Gene

Primer Products

In Situ Assay Products

No data available for mRNA Expression by UniProt/SwissProt for DNAH11 Gene

Orthologs for DNAH11 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for DNAH11 Gene

Organism Taxonomy Gene Similarity Type Details
dog
(Canis familiaris)
Mammalia DNAH11 35
  • 88.07 (n)
  • 88.41 (a)
DNAH11 36
  • 88 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Dnah11 35
  • 83.98 (n)
  • 85.27 (a)
Dnah11 16
Dnah11 36
  • 85 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Dnah11 35
  • 82.98 (n)
  • 83.8 (a)
cow
(Bos Taurus)
Mammalia DNAH11 36
  • 88 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia DNAH11 36
  • 77 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia DNAH11 36
  • 78 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100494270 35
  • 69.53 (n)
  • 69.96 (a)
zebrafish
(Danio rerio)
Actinopterygii dnah11 36
  • 58 (a)
OneToMany
DNAH11 (2 of 2) 36
  • 63 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta Dhc93AB 37
  • 54 (a)
kl-2 37
  • 31 (a)
kl-5 37
  • 85 (a)
CG3339 36
  • 43 (a)
OneToMany
Dhc93AB 36
  • 55 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes DYN1 36
  • 20 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 57 (a)
OneToOne
Species with no ortholog for DNAH11:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • chimpanzee (Pan troglodytes)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for DNAH11 Gene

ENSEMBL:
Gene Tree for DNAH11 (if available)
TreeFam:
Gene Tree for DNAH11 (if available)

Paralogs for DNAH11 Gene

Paralogs for DNAH11 Gene

Pseudogenes.org Pseudogenes for DNAH11 Gene

genes like me logo Genes that share paralogs with DNAH11: view

Variants for DNAH11 Gene

Sequence variations from dbSNP and Humsavar for DNAH11 Gene

SNP ID Clin Chr 07 pos Sequence Context AA Info Type
VAR_013851 -
rs12670130 - 21,588,579(+) GGCCC(A/G/T)GCAGG reference, missense
rs62441683 - 21,588,624(+) CGCAT(C/G/T)TCTCC reference, missense
rs10269582 - 21,600,743(+) GAATG(C/T)CATCA reference, missense
rs10224537 - 21,600,787(+) CCCAC(A/G)CTTAC reference, missense

Structural Variations from Database of Genomic Variants (DGV) for DNAH11 Gene

Variant ID Type Subtype PubMed ID
nsv830921 CNV Gain 17160897
esv2734113 CNV Deletion 23290073
esv2734114 CNV Deletion 23290073
esv5289 CNV Deletion 18987735
esv2734115 CNV Deletion 23290073
esv2678032 CNV Deletion 23128226
esv274625 CNV Insertion 20981092
esv269405 CNV Insertion 20981092
esv272580 CNV Insertion 20981092
esv270492 CNV Insertion 20981092
dgv1188e199 CNV Deletion 23128226
nsv5655 CNV Loss 18451855
esv24789 CNV Gain 19812545
esv1358263 CNV Insertion 17803354
nsv830922 CNV Loss 17160897
nsv470177 CNV Loss 18288195
nsv5656 CNV Loss 18451855
esv2667195 CNV Deletion 23128226
esv28945 CNV Loss 19812545
esv2663890 CNV Deletion 23128226
nsv366567 CNV Loss 16902084
nsv437538 CNV Loss 16327808
nsv520409 CNV Loss 19592680
nsv7393 OTHER Inversion 18451855
nsv5657 CNV Insertion 18451855
nsv524106 CNV Loss 19592680
esv1004482 CNV Insertion 20482838
esv1623310 CNV Insertion 17803354

Variation tolerance for DNAH11 Gene

Residual Variation Intolerance Score: 99.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 30.36; 99.91% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for DNAH11 Gene

HapMap Linkage Disequilibrium report
DNAH11
Human Gene Mutation Database (HGMD)
DNAH11

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for DNAH11 Gene

Disorders for DNAH11 Gene

MalaCards: The human disease database

(8) MalaCards diseases for DNAH11 Gene - From: OMIM, ClinVar, GeneTests, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
ciliary dyskinesia, primary, 7, with or without situs inversus
  • ciliary dyskinesia, primary, 7
primary ciliary dyskinesia 7: dnah11-related primary ciliary dyskinesia
situs inversus
  • complete transposition
primary ciliary dyskinesia
  • kartagener syndrome
kartagener syndrome
  • kartagener's syndrome
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

DYH11_HUMAN
  • Ciliary dyskinesia, primary, 7 (CILD7) [MIM:611884]: A disorder characterized by abnormalities of motile cilia. Respiratory infections leading to chronic inflammation and bronchiectasis are recurrent, due to defects in the respiratory cilia; reduced fertility is often observed in male patients due to abnormalities of sperm tails. Half of the patients exhibit randomization of left-right body asymmetry and situs inversus, due to dysfunction of monocilia at the embryonic node. Primary ciliary dyskinesia associated with situs inversus is referred to as Kartagener syndrome. {ECO:0000269 PubMed:12142464, ECO:0000269 PubMed:18022865}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Kartagener syndrome (KTGS) [MIM:244400]: An autosomal recessive disorder characterized by the association of primary ciliary dyskinesia with situs inversus. Clinical features include recurrent respiratory infections, bronchiectasis, infertility, and lateral transposition of the viscera of the thorax and abdomen. The situs inversus is most often total, although it can be partial in some cases (isolated dextrocardia or isolated transposition of abdominal viscera). {ECO:0000269 PubMed:12142464, ECO:0000269 PubMed:18022865, ECO:0000269 PubMed:25186273}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for DNAH11

Genetic Association Database (GAD)
DNAH11
Human Genome Epidemiology (HuGE) Navigator
DNAH11
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
DNAH11
genes like me logo Genes that share disorders with DNAH11: view

No data available for Genatlas for DNAH11 Gene

Publications for DNAH11 Gene

  1. Mutations in the DNAH11 (axonemal heavy chain dynein type 11) gene cause one form of situs inversus totalis and most likely primary ciliary dyskinesia. (PMID: 12142464) Bartoloni L. … Antonarakis S.E. (Proc. Natl. Acad. Sci. U.S.A. 2002) 3 4 23 67
  2. Mutations in dynein genes in patients affected by isolated non-syndromic asthenozoospermia. (PMID: 18492703) Zuccarello D. … Foresta C. (Hum. Reprod. 2008) 3 23
  3. Isolation of several human axonemal dynein heavy chain genes: genomic structure of the catalytic site, phylogenetic analysis and chromosomal assignment. (PMID: 9256245) Chapelin C. … Amselem S. (FEBS Lett. 1997) 2 3
  4. Mutations in DNAH1, which Encodes an Inner Arm Heavy Chain Dynein, Lead to Male Infertility from Multiple Morphological Abnormalities of the Sperm Flagella. (PMID: 24360805) Ben Khelifa M. … Ray P.F. (Am. J. Hum. Genet. 2014) 3
  5. Genetic susceptibility to accelerated cognitive decline in the US Health and Retirement Study. (PMID: 24468470) Zhang C. … Pierce B.L. (Neurobiol. Aging 2014) 3

Products for DNAH11 Gene

Sources for DNAH11 Gene

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