Human Gene DNAAF1 (ENST00000378553.10) Description and Page Index
Description: Homo sapiens dynein axonemal assembly factor 1 (DNAAF1), transcript variant 1, mRNA. (from RefSeq NM_178452) RefSeq Summary (NM_178452): The protein encoded by this gene is cilium-specific and is required for the stability of the ciliary architecture. It is involved in the regulation of microtubule-based cilia and actin-based brush border microvilli. Mutations in this gene are associated with primary ciliary dyskinesia-13. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]. Gencode Transcript: ENST00000378553.10 Gencode Gene: ENSG00000154099.18 Transcript (Including UTRs) Position: hg38 chr16:84,145,308-84,177,918 Size: 32,611 Total Exon Count: 12 Strand: + Coding Region Position: hg38 chr16:84,145,441-84,177,841 Size: 32,401 Coding Exon Count: 12
ID:DAAF1_HUMAN DESCRIPTION: RecName: Full=Dynein assembly factor 1, axonemal; AltName: Full=Leucine-rich repeat-containing protein 50; 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. SUBCELLULAR LOCATION: Cell projection, cilium. Cytoplasm. Cytoplasm, cytoskeleton, spindle pole. 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. TISSUE SPECIFICITY: Mainly expressed in trachea and testis. DISEASE: Defects in DNAAF1 are the cause of primary ciliary dyskinesia type 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 cilia. SIMILARITY: Belongs to the DNAAF1 family. SIMILARITY: Contains 6 LRR (leucine-rich) repeats. SIMILARITY: Contains 1 LRRCT domain. SEQUENCE CAUTION: Sequence=BAB71645.1; Type=Erroneous initiation;
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on Q8NEP3
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.