InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: DNAH5

Summary

InnateDB Protein

IDBP-12683.5

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

DNAH5

Protein Name

dynein, axonemal, heavy chain 5

Synonyms

CILD3; DNAHC5; HL1; KTGNR; PCD;

Species

Homo sapiens

Ensembl Protein

ENSP00000265104

InnateDB Gene

IDBG-12679 (DNAH5)

Protein Structure

UniProt Annotation

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. Required for structural and functional integrity of the cilia of ependymal cells lining the brain ventricles.

Subcellular Localization

Cytoplasm, cytoskeleton, cilium axoneme.

Disease Associations

Ciliary dyskinesia, primary, 3 (CILD3) [MIM:608644]: 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:0000269PubMed:11062149, ECO:0000269PubMed:16627867}. 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:0000269PubMed:11788826}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Comments

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

Protein Structure and Domains

PDB ID

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
IPR027417 P-loop containing nucleoside triphosphate hydrolase

PFAM

PF03028
PF07728
PF08385
PF08393

PRINTS

PIRSF

SMART

SM00382

TIGRFAMs

Post-translational Modifications

Modification

Cross-References

SwissProt

Q8TE73