DNAH5

Dynein axonemal heavy chain 5 is a protein that in humans is encoded by the DNAH5 gene.^[5][6][7]

DNAH5
Identifiers
Aliases	DNAH5, CILD3, DNAHC5, HL1, KTGNR, PCD, dynein axonemal heavy chain 5
External IDs	OMIM: 603335; MGI: 107718; HomoloGene: 1048; GeneCards: DNAH5; OMA:DNAH5 - orthologs
Gene location (Human) Chr. Chromosome 5 (human)[1] Band 5p15.2 Start 13,690,328 bp[1] End 14,011,818 bp[1]
Gene location (Mouse) Chr. Chromosome 15 (mouse)[2] Band 15 B1|15 10.9 cM Start 28,203,898 bp[2] End 28,472,198 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in bronchial epithelial cell mucosa of paranasal sinus epithelium of nasopharynx olfactory zone of nasal mucosa nasal epithelium right uterine tube pancreatic ductal cell testicle gonad islet of Langerhans Top expressed in olfactory epithelium lumbar spinal ganglion secondary oocyte right lung dentate gyrus of hippocampal formation granule cell spermatid right lung lobe primary visual cortex triceps brachii muscle trachea More reference expression data BioGPS n/a
Gene ontology Molecular function nucleotide binding ATPase activity cytoskeletal motor activity ATP binding minus-end-directed microtubule motor activity dynein light chain binding dynein intermediate chain binding dynein light intermediate chain binding microtubule motor activity Cellular component cytoplasm cell projection cilium dynein complex microtubule outer dynein arm cytoskeleton axoneme 9+2 motile cilium axonemal dynein complex extracellular region Biological process flagellated sperm motility outer dynein arm assembly microtubule-based movement cilium assembly cilium movement determination of left/right symmetry heart development lateral ventricle development epithelial cilium movement involved in extracellular fluid movement Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 1767 110082 Ensembl ENSG00000039139 ENSMUSG00000022262 UniProt Q8TE73 Q8VHE6 RefSeq (mRNA) NM_001369 NM_133365 RefSeq (protein) NP_001360 NP_579943 Location (UCSC) Chr 5: 13.69 – 14.01 Mb Chr 15: 28.2 – 28.47 Mb PubMed search [3] [4]
Wikidata
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DNAH5 is a protein-coding gene.¹ It provides the instructions for synthesizing a protein that belongs to a microtubule-associated protein complex made of heavy, light and intermediate chains.² DNAH5 is responsible for making the heavy chain 5, found within the outer dynein arms of cilia.¹ It will function as a force generating protein by using ATP, producing the power stroke for cilia.³

During early development, the cilia found on the primitive node will beat in a directional pattern, sending signaling molecules to the left, this process will begin to establish the internal left-right asymmetry.³ Mutations in DNAH5 are linked to primary ciliary dyskinesia, an autosomal recessive disorder.⁴ This X-linked disorder is characterized by recurrent respiratory infections, infertility, and abnormal organ placement.¹ Non-functional DNAH5 proteins have been identified in individuals with primary ciliary dyskinesia and randomized left-right asymmetry.⁴