Dnaaf1 dynein, axonemal assembly factor 1 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Dnaaf1provided by MGI
Official Full Name: dynein, axonemal assembly factor 1provided by MGI
Primary source: MGI:MGI:1915520
See related: Ensembl:ENSMUSG00000031831 AllianceGenome:MGI:1915520
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: m4Bei; Lrrc50; 4930457P18Rik
Summary: Predicted to enable dynein complex binding activity. Predicted to be involved in several processes, including cilium assembly; determination of left/right symmetry; and regulation of cilium beat frequency. Predicted to be located in cytosol; nuclear speck; and plasma membrane. Predicted to be active in axoneme. Is expressed in several structures, including genitourinary system; liver; node; nose; and spleen. Human ortholog(s) of this gene implicated in primary ciliary dyskinesia 13. Orthologous to human DNAAF1 (dynein axonemal assembly factor 1). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Biased expression in testis adult (RPKM 269.9) and duodenum adult (RPKM 6.3) See more
Orthologs: human all
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Genomic context

Location:: 8 E1; 8 67.98 cM

Exon count:: 12

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	8	NC_000074.7 (120301974..120325193)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	8	NC_000074.6 (119575235..119598454)

Chromosome 8 - NC_000074.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Mutations in Dnaaf1 cause hydrocephalus, laterality defects, and sinusitis.
Title: Mutations in Dnaaf1 and Lrrc48 Cause Hydrocephalus, Laterality Defects, and Sinusitis in Mice.
LRRC50 plays a role in assembly of distinct dynein-arm complexes
Title: Deletions and point mutations of LRRC50 cause primary ciliary dyskinesia due to dynein arm defects.

Submit: New GeneRIF Correction

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Chemically induced (ENU) (1) 1 citation
Endonuclease-mediated (2)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH136259 (e-PCR)
- UniSTS:210252

UniSTS:236019 (e-PCR)
- UniSTS:236019

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables dynein complex binding	IBA Inferred from Biological aspect of Ancestor more info
enables dynein complex binding	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
involved_in axonemal dynein complex assembly	ISO Inferred from Sequence Orthology more info
involved_in axoneme assembly	IBA Inferred from Biological aspect of Ancestor more info
involved_in cilium assembly	ISO Inferred from Sequence Orthology more info
involved_in cilium movement	ISO Inferred from Sequence Orthology more info
involved_in determination of digestive tract left/right asymmetry	ISO Inferred from Sequence Orthology more info
involved_in determination of liver left/right asymmetry	ISO Inferred from Sequence Orthology more info
involved_in determination of pancreatic left/right asymmetry	ISO Inferred from Sequence Orthology more info
involved_in heart looping	ISO Inferred from Sequence Orthology more info
involved_in inner dynein arm assembly	ISO Inferred from Sequence Orthology more info
involved_in left/right pattern formation	ISO Inferred from Sequence Orthology more info
involved_in lung development	ISO Inferred from Sequence Orthology more info
involved_in motile cilium assembly	ISO Inferred from Sequence Orthology more info
involved_in outer dynein arm assembly	ISO Inferred from Sequence Orthology more info
involved_in regulation of cilium beat frequency	ISO Inferred from Sequence Orthology more info

Component	Evidence Code	Pubs
is_active_in axoneme	IBA Inferred from Biological aspect of Ancestor more info
located_in axoneme	ISO Inferred from Sequence Orthology more info
located_in cell projection	IEA Inferred from Electronic Annotation more info
located_in cilium	IEA Inferred from Electronic Annotation more info
located_in cytosol	ISO Inferred from Sequence Orthology more info
located_in nuclear speck	ISO Inferred from Sequence Orthology more info
located_in plasma membrane	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: dynein axonemal assembly factor 1

Names: dynein assembly factor 1, axonemal; leucine-rich repeat-containing protein 50

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_026648.4 → NP_080924.1 dynein axonemal assembly factor 1

See identical proteins and their annotated locations for NP_080924.1

Status: VALIDATED

Source sequence(s)

AC104882

Consensus CDS

CCDS22709.1

UniProtKB/Swiss-Prot

Q9CVS9, Q9D2H9

Related

ENSMUSP00000090790.3, ENSMUST00000093100.3

Conserved Domains (3) summary

cd00116
Location:116 → 252

LRR_RI; Leucine-rich repeats (LRRs), ribonuclease inhibitor (RI)-like subfamily. LRRs are 20-29 residue sequence motifs present in many proteins that participate in protein-protein interactions and have different functions and cellular locations. LRRs correspond ...

sd00033
Location:105 → 124

LRR_RI; leucine-rich repeat [structural motif]

pfam13855
Location:145 → 201

LRR_8; Leucine rich repeat