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; 1 chicken; 1 zebrafish

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; chr16:84178865-84211524 (+)  GRCh37.p10
Disease Associations		(1) Diseases Associated with Human DNAAF1

Alleles and phenotypes

All alleles(2) : Gene trapped(2)

Gene Ontology (GO) classifications

All GO classifications: (20 annotations)

Process	axonemal dynein complex assembly, cilium morphogenesis, ...
Component	cell projection, cilium, ...
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 Type	Results
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 Model	OTTMUSG00000031110 (Evidence)
Ensembl Gene Model	ENSMUSG00000031831 (Evidence)
Entrez Gene	68270 (Evidence)
Consensus CDS Project	CCDS22709.1
International Mouse Knockout Project Status	Dnaaf1

Sequences

Length	Strain/Species
genomic	OTTMUSG00000031110	VEGA Gene Model | MGI Sequence Detail	23220	C57BL/6J
transcript	OTTMUST00000077071	VEGA | MGI Sequence Detail	2821	Not Applicable
polypeptide	OTTMUSP00000040662	VEGA | MGI Sequence Detail	634	Not Applicable

All sequences(16) RefSeq(2) UniProt(1)

Polymorphisms

SNPs(64 from dbSNP Build 128)

Protein-related information

Resource	ID	Description
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)