DNAAF1
Sign in to saveAlso known as CILD13, LRRC50, ODA7, dynein (axonemal) assembly factor 1, dynein axonemal assembly factor 1, swt, DAU1
Leucine-rich repeat-containing protein 50 is a protein that in humans is encoded by the LRRC50 gene.
Gene data
DNAAF1- Name
- dynein axonemal assembly factor 1
- Type
- protein-coding
- Position
- 84,145,261–84,178,769 (+)
- Aliases
- CILD13, DAU1, LRRC50, ODA7, swt
- Ensembl
- ENSG00000154099
- RefSeq RNA
- NM_001318756.1, NM_178452.6, XM_006721129.4, XM_011522853.4, XM_011522854.4
- RefSeq protein
- NP_001305685.1, NP_848547.4, XP_006721192.1, XP_011521155.1, XP_011521156.1
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].
Gene Ontology
Biological process
Molecular function
Cellular component
Pathways
via MyGene.info
Gene · Ensembl
dynein axonemal assembly factor 1
- Symbol
- DNAAF1
- Biotype
- Protein coding
- Organism
- Homo sapiens
- Location
- 16:84,145,261-84,178,769
- Strand
- Forward (+)
- Assembly
- GRCh38
via Ensembl · EMBL-EBI
Wikidata facts
- Instance of
- gene
Show 7 more facts
- HomoloGene ID
- 12256
- found in taxon
- Homo sapiens
- exact match
- identifiers.org/ncbigene/123872
- genomic end
- 84212373
- genomic start
- 84178865
- chromosome
- human chromosome 16
- cytogenetic location
- 16q24.1
Sources (4)
via Wikidata · CC0
~1 min read
Encyclopedic overview
5 sectionsContents
- Function
- Clinical significance
- References
- Further reading
- External links
Leucine-rich repeat-containing protein 50 is a protein that in humans is encoded by the LRRC50 gene.
== Function ==
Excerpted from Wikipedia’s “DNAAF1” article, available under the CC BY-SA 4.0 licence.