ENSG00000105877
Homo sapiens | |
Features
| Gene ID: | ENSG00000105877 | | | | | Biological name : | DNAH11 | | | | | Synonyms : | DNAH11 / dynein axonemal heavy chain 11 / Q96DT5 | | | | | Possible biological names infered from orthology : | | | | | | Species: | Homo sapiens | | | | | Chr. number: | 7 | | Strand: | 1 | | Band: | p15.3 | | Gene start: | 21543215 | | Gene end: | 21901839 | | | | | Corresponding Affymetrix probe sets: | 1553159_at (Human Genome U133 Plus 2.0 Array) 1560416_at (Human Genome U133 Plus 2.0 Array) 237804_at (Human Genome U133 Plus 2.0 Array) | | | | | Cross references: | Ensembl peptide - ENSP00000475939
Ensembl peptide - ENSP00000481693
Ensembl peptide - ENSP00000476068
Ensembl peptide - ENSP00000330671
NCBI entrez gene - 8701
See in Manteia.
OMIM - 603339
RefSeq - NM_001277115
RefSeq Peptide - NP_001264044
swissprot - A0A0C4DFR0
swissprot - A0A087WYC6
swissprot - Q96DT5
swissprot - U3KQN2
Ensembl - ENSG00000105877
| | | | | Related genetic diseases (OMIM): | 611884 - Ciliary dyskinesia, primary, 7, with or without situs inversus, 611884 |
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed
Ortholog prediction (from Ensembl)
Paralog prediction (from Ensembl)
Protein motifs (from Interpro)
| IPR003593 | AAA+ ATPase domain | | IPR004273 | Dynein heavy chain domain | | IPR011704 | ATPase, dynein-related, AAA domain | | IPR013594 | Dynein heavy chain, domain-1 | | IPR013602 | Dynein heavy chain, domain-2 | | IPR024317 | Dynein heavy chain, AAA module D4 | | IPR024743 | Dynein heavy chain, coiled coil stalk | | IPR026983 | Dynein heavy chain | | IPR027417 | P-loop containing nucleoside triphosphate hydrolase | | IPR035699 | Dynein heavy chain, hydrolytic ATP-binding dynein motor region D1 | | IPR035706 | Dynein heavy chain, ATP-binding dynein motor region D5 |
Gene Ontology (GO)
Pathways (from Reactome)
No match
Phenotype (from MGI, Zfin or HPO)
| HP:0000007 | Autosomal recessive inheritance | "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele)." [HPO:curators] |
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| | HP:0001696 | Situs inversus | "A left-right reversal (or "mirror reflection") of the anatomical location of the major thoracic and abdominal organs." [HPO:curators] |
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| | HP:0002110 | Bronchiectasis | |
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| | HP:0002205 | Recurrent respiratory infections | |
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| | HP:0012265 | Ciliary dyskinesia | "A deviation from the normally well coordinated pattern of intracellular and intercellular synchrony of motile cilia. Dyskinetic cilia usually beat out of synchrony relative to neighboring cilia." [HPO:probinson, pmid:19606528] |
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Interacting proteins (from Reactome)
No match
1 s.
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