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
Not yet available
Pathways
NETPATH
REACTOME
KEGG
Huntington's disease pathway
INOH
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