Homo sapiens Gene: DNAH5
Summary
InnateDB Gene IDBG-12679.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol DNAH5
Gene Name dynein, axonemal, heavy chain 5
Synonyms CILD3; DNAHC5; HL1; KTGNR; PCD;
Species Homo sapiens
Ensembl Gene ENSG00000039139
Encoded Proteins
dynein, axonemal, heavy chain 5
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
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]
Gene Information
Type Protein coding
Genomic Location Chromosome 5:13690331-13944543
Strand Reverse strand
Band p15.2
Transcripts
ENST00000265104 ENSP00000265104
ENST00000504001
ENST00000512443
ENST00000508040
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 1 experimentally validated interaction(s) in this database.
Experimentally validated
Total 1 [view]
Protein-Protein 1 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0003777 microtubule motor activity
GO:0005524 ATP binding
GO:0016887 ATPase activity
Biological Process
GO:0003341 cilium movement
GO:0006200 ATP catabolic process
GO:0007018 microtubule-based movement
GO:0008150 biological_process
GO:0008152 metabolic process
GO:0021670 lateral ventricle development
GO:0070986 left/right axis specification
Cellular Component
GO:0005575 cellular_component
GO:0005858 axonemal dynein complex
GO:0005874 microtubule
GO:0005930 axoneme
GO:0030286 dynein complex
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Method
Confidence
Comments
SSD Ortholog
Ortholog supports species divergence
Not yet available
SSD Ortholog
Ortholog supports species divergence
Pathways
NETPATH
REACTOME
KEGG
Huntington's disease pathway
INOH
PID BIOCARTA
Lissencephaly gene (lis1) in neuronal migration and development [Biocarta view]
PID NCI
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Hs.212360
RefSeq NM_001369 XM_005248262
HUGO
OMIM
CCDS CCDS3882
HPRD 04514
IMGT
EMBL
GenPept
RNA Seq Atlas