InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: DNAAF1

Summary

InnateDB Protein

IDBP-753528.3

Last Modified

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

Gene Symbol

DNAAF1

Protein Name

Synonyms

Species

Homo sapiens

Ensembl Protein

ENSP00000457373

InnateDB Gene

IDBG-44266 (DNAAF1)

Protein Structure

UniProt Annotation

Function

Cilium-specific protein required for the stability of the ciliary architecture. Plays a role in cytoplasmic preassembly of dynein arms. Involved in regulation of microtubule-based cilia and actin-based brush border microvilli. {ECO:0000269PubMed:18385425, ECO:0000269PubMed:19944400, ECO:0000269PubMed:19944405}.

Subcellular Localization

Cell projection, cilium {ECO:0000269PubMed:18385425}. Cytoplasm {ECO:0000269PubMed:18385425}. Cytoplasm, cytoskeleton, spindle pole {ECO:0000269PubMed:18385425}. Note=In HEK293T cells, it is diffusely cytoplasmic and concentrates at the mitotic spindle poles, while in MDCK cells, it localizes in the cilium. In vivo, this protein is probably restricted to the cilium.

Disease Associations

Ciliary dyskinesia, primary, 13 (CILD13) [MIM:613193]: 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. At ultrastructural level, CILD13 is characterized by a marked reduction or absence of both dynein arms from the patients cilia. {ECO:0000269PubMed:19944400, ECO:0000269PubMed:19944405}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Mainly expressed in trachea and testis. {ECO:0000269PubMed:19944405}.

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:0045502	dynein binding

Biological Process

GO:0001947	heart looping
GO:0003341	cilium movement
GO:0003356	regulation of cilium beat frequency
GO:0030324	lung development
GO:0035469	determination of pancreatic left/right asymmetry
GO:0036158	outer dynein arm assembly
GO:0036159	inner dynein arm assembly
GO:0044458	motile cilium assembly
GO:0060271	cilium morphogenesis
GO:0060287	epithelial cilium movement involved in determination of left/right asymmetry
GO:0060972	left/right pattern formation
GO:0070286	axonemal dynein complex assembly
GO:0071907	determination of digestive tract left/right asymmetry
GO:0071910	determination of liver left/right asymmetry