Dnaaf3 dynein, axonemal assembly factor 3 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Dnaaf3provided by MGI
Official Full Name: dynein, axonemal assembly factor 3provided by MGI
Primary source: MGI:MGI:3588207
See related: Ensembl:ENSMUSG00000055809 AllianceGenome:MGI:3588207
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: b2b1739Clo; 6030429G01Rik
Summary: Acts upstream of or within determination of left/right symmetry and heart development. Predicted to be located in dynein axonemal particle. Is expressed in brain; lung; ovary; oviduct; and testis. Used to study Kartagener syndrome; primary ciliary dyskinesia 2; and visceral heterotaxy. Human ortholog(s) of this gene implicated in primary ciliary dyskinesia 2. Orthologous to human DNAAF3 (dynein axonemal assembly factor 3). [provided by Alliance of Genome Resources, Nov 2024]
Expression: Biased expression in testis adult (RPKM 63.1), lung adult (RPKM 7.7) and 4 other tissues See more
Orthologs: human all
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Genomic context

Location:: 7 A1; 7 2.61 cM

Exon count:: 12

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	7	NC_000073.7 (4525932..4535487, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	7	NC_000073.6 (4522933..4532488, complement)

Chromosome 7 - NC_000073.7 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?

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Variation

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Alleles

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

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

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables molecular_function	ND No biological Data available more info

Process	Evidence Code	Pubs
involved_in axonemal dynein complex assembly	IBA Inferred from Biological aspect of Ancestor more info
involved_in axonemal dynein complex assembly	ISO Inferred from Sequence Orthology more info
involved_in axonemal dynein complex assembly	ISS Inferred from Sequence or Structural Similarity more info
acts_upstream_of_or_within determination of left/right symmetry	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within heart development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in motile cilium assembly	IBA Inferred from Biological aspect of Ancestor more info
involved_in motile cilium assembly	ISO Inferred from Sequence Orthology more info
involved_in motile cilium assembly	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
is_active_in cellular_component	ND No biological Data available more info
located_in dynein axonemal particle	ISS Inferred from Sequence or Structural Similarity more info

General protein information

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Preferred Names: dynein axonemal assembly factor 3

Names: UPF0470 protein C19orf51 homolog; dynein assembly factor 3, axonemal

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_001033548.3 → NP_001028720.1 dynein axonemal assembly factor 3

See identical proteins and their annotated locations for NP_001028720.1

Status: VALIDATED

Source sequence(s)

AC161218, AI429530, AK134335

Consensus CDS

CCDS20737.1

UniProtKB/Swiss-Prot

B2RX55, Q3UYV8

Related

ENSMUSP00000092498.5, ENSMUST00000094897.5

Conserved Domains (2) summary

pfam14737
Location:18 → 122

DUF4470; Domain of unknown function (DUF4470)

pfam14740
Location:154 → 433

DUF4471; Domain of unknown function (DUF4471)

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

NC_000073.7 Reference GRCm39 C57BL/6J

Range

4525932..4535487 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006540166.3 → XP_006540229.1 dynein axonemal assembly factor 3 isoform X1

Conserved Domains (3) summary

PTZ00436
Location:402 → 524

PTZ00436; 60S ribosomal protein L19-like protein; Provisional

pfam14737
Location:11 → 64

DUF4470; Domain of unknown function (DUF4470)

pfam14740
Location:96 → 376

DUF4471; Domain of unknown function (DUF4471)