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Dnaaf1
Gene Detail
 Symbol
Name
ID
Dnaaf1
dynein, axonemal assembly factor 1
MGI:1915520
Synonyms 4930457P18Rik, Lrrc50
Feature Type protein coding gene
Genetic Map
Chromosome 8
67.98 cM, cytoband E1
Detailed Genetic Map ± 1 cM


Mapping data(2)
Sequence Map
Chr8:119575235-119598454 bp, + strand
From VEGA annotation of GRCm38

  23220 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:12256  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 cattle; 1 dog

Gene Tree: Dnaaf1

Human
homologs
Human Homolog DNAAF1, dynein, axonemal, assembly factor 1
NCBI Gene ID 123872
neXtProt AC  NX_Q8NEP3
Human Synonyms  CILD13, LRRC50, ODA7
Human Chr (Location)  16q24.1; chr16:84145260-84177918 (+)  GRCh38
Disease Associations  (1) Diseases Associated with Human DNAAF1
Alleles
and
phenotypes
All alleles(2) : Gene trapped(2)
Incidental mutations (data from APF )
Gene Ontology
(GO)
classifications
All GO classifications: (20 annotations)
Process axonemal dynein complex assembly, cilium morphogenesis, ...
Component axoneme, cell projection, ...
Function dynein binding
External Resources: FuncBase
Expression
Literature Summary: (1 records)
Data Summary: Results (7)    Tissues (6)   
Theiler Stages: 11, 12, 13, 24, 28
Assay TypeResults
RNA in situ 7
cDNA source data(5)
External Resources: Allen Institute   GEO   ArrayExpress
Molecular
reagents
All nucleic(5) cDNA(5)
Microarray probesets(4)
Other database
links
VEGA Gene ModelOTTMUSG00000031110 (Evidence)
Ensembl Gene ModelENSMUSG00000031831 (Evidence)
Entrez Gene68270 (Evidence)
Consensus CDS ProjectCCDS22709.1
International Mouse Knockout Project StatusDnaaf1
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000031110 VEGA Gene Model | MGI Sequence Detail 23220 C57BL/6J ±  kb
transcript OTTMUST00000077071 VEGA | MGI Sequence Detail 2821 Not Applicable 
polypeptide OTTMUSP00000040662 VEGA | MGI Sequence Detail 634 Not Applicable 

For the selected sequences
All sequences(16) RefSeq(2) UniProt(1)
Polymorphisms SNPs within 2kb(71 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR001611 Leucine-rich repeat
Protein Ontology PR:000009938 leucine-rich repeat-containing protein 50
References (Earliest) J:65060 Kawai J, et al., Functional annotation of a full-length mouse cDNA collection. Nature. 2001 Feb 8;409(6821):685-90
(Latest) J:158467 Loges NT, et al., Deletions and point mutations of LRRC50 cause primary ciliary dyskinesia due to dynein arm defects. Am J Hum Genet. 2009 Dec;85(6):883-9
All references(24)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
07/15/2014
MGI 5.18
The Jackson Laboratory