Dnaaf4 dynein axonemal assembly factor 4 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Dnaaf4provided by MGI
Official Full Name: dynein axonemal assembly factor 4provided by MGI
Primary source: MGI:MGI:1914935
See related: Ensembl:ENSMUSG00000092192 AllianceGenome:MGI:1914935
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: EKN1; Dyx1c1; b2b811Clo; b2b811.1Clo; 1700010I24Rik
Summary: Predicted to enable estrogen receptor binding activity. Involved in cilium movement; inner dynein arm assembly; and outer dynein arm assembly. Acts upstream of or within several processes, including determination of left/right symmetry; epithelial cilium movement involved in extracellular fluid movement; and learning or memory. Located in cytoplasm. Is expressed in several structures, including alimentary system; central nervous system; genitourinary system; respiratory system; and spleen. Used to study Robinow syndrome and primary ciliary dyskinesia 25. Human ortholog(s) of this gene implicated in dyslexia and primary ciliary dyskinesia 25. Orthologous to human DNAAF4 (dynein axonemal assembly factor 4). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Biased expression in testis adult (RPKM 2.3), CNS E11.5 (RPKM 0.5) and 14 other tissues See more
Orthologs: human all
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Genomic context

Location:: 9 D; 9 40.08 cM

Exon count:: 9

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	9	NC_000075.7 (72863574..72880971)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	9	NC_000075.6 (72957372..72973689)

Chromosome 9 - NC_000075.7 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?

In total, four independent SNPs within DYX1C1 and ATP2C2 were found to be associated with MMR stronger than expected from multiple testing. To explore potential pathomechanisms, we annotated these variants with functional data including tissue-specific expression analysis and eQTLs.
Title: ATP2C2 and DYX1C1 are putative modulators of dyslexia-related MMR.
findings in mice affirm existing evidence that DYX1C1 may play an underlying role in the development of neural systems important to learning and memory, and disruption of this function could contribute to the learning deficits seen in individuals with dyslexia
Title: Deficits in learning and memory in mice with a mutation of the candidate dyslexia susceptibility gene Dyx1c1.
DYX1C1 is required for axonemal dynein assembly and ciliary motility.
Title: DYX1C1 is required for axonemal dynein assembly and ciliary motility.

Submit: New GeneRIF Correction

Variation

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Alleles

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

Targeted (4) 1 citation
Chemically induced (ENU) (1)

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 nuclear estrogen receptor binding	IBA Inferred from Biological aspect of Ancestor more info
enables nuclear estrogen receptor binding	ISO Inferred from Sequence Orthology more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in cilium movement	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cilium movement	ISO Inferred from Sequence Orthology more info
involved_in determination of left/right symmetry	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within determination of left/right symmetry	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in determination of left/right symmetry	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in determination of left/right symmetry	ISO Inferred from Sequence Orthology more info
involved_in epithelial cilium movement involved in extracellular fluid movement	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within epithelial cilium movement involved in extracellular fluid movement	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within establishment of localization in cell	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in heart development	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within heart development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in inner dynein arm assembly	IBA Inferred from Biological aspect of Ancestor more info
involved_in inner dynein arm assembly	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in inner dynein arm assembly	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within learning or memory	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within nervous system development	IEA Inferred from Electronic Annotation more info
involved_in neuron migration	ISO Inferred from Sequence Orthology more info
involved_in outer dynein arm assembly	IBA Inferred from Biological aspect of Ancestor more info
involved_in outer dynein arm assembly	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in outer dynein arm assembly	ISO Inferred from Sequence Orthology more info
involved_in regulation of intracellular estrogen receptor signaling pathway	ISO Inferred from Sequence Orthology more info
involved_in regulation of proteasomal protein catabolic process	ISO Inferred from Sequence Orthology more info

Component	Evidence Code	Pubs
located_in cell projection	IEA Inferred from Electronic Annotation more info
located_in centrosome	ISO Inferred from Sequence Orthology more info
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in cytoplasm	ISO Inferred from Sequence Orthology more info
located_in cytosol	ISO Inferred from Sequence Orthology more info
located_in non-motile cilium	ISO Inferred from Sequence Orthology more info
located_in nucleus	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 4

Names: dynein assembly factor 4, axonemal; dyslexia susceptibility 1 candidate 1 homolog; dyslexia susceptibility 1 candidate gene 1 protein homolog

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_001163725.1 → NP_001157197.1 dynein axonemal assembly factor 4 isoform 2

Status: VALIDATED

Description

Transcript Variant: This variant (2) lacks exons in the coding region, compared to variant 1. The encoded isoform (2) is shorter, compared to isoform 1.

Source sequence(s)

AC158997

Consensus CDS

CCDS52854.1

UniProtKB/TrEMBL

E9Q973, Q5QIE1

Related

ENSMUSP00000096166.3, ENSMUST00000098567.9

Conserved Domains (5) summary

cd06469
Location:10 → 87

p23_DYX1C1_like; p23_like domain found in proteins similar to dyslexia susceptibility 1 (DYX1) candidate 1 (C1) protein, DYX1C1. The human gene encoding this protein is a positional candidate gene for developmental dyslexia (DD), it is located on 15q21.3 by the DYX1 DD ...

sd00006
Location:168 → 196

TPR; TPR repeat [structural motif]

pfam00515
Location:202 → 231

TPR_1; Tetratricopeptide repeat

pfam13414
Location:167 → 231

TPR_11; TPR repeat

pfam13424
Location:204 → 276

TPR_12; Tetratricopeptide repeat
NM_026314.3 → NP_080590.3 dynein axonemal assembly factor 4 isoform 1

See identical proteins and their annotated locations for NP_080590.3

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).

Source sequence(s)

AC158997, AK005832, AK161368

Consensus CDS

CCDS23333.1

UniProtKB/Swiss-Prot

G3X916, Q8R368

UniProtKB/TrEMBL

Q5VJS4

Related

ENSMUSP00000034734.9, ENSMUST00000034734.9

Conserved Domains (5) summary

cd06469
Location:10 → 87

p23_DYX1C1_like; p23_like domain found in proteins similar to dyslexia susceptibility 1 (DYX1) candidate 1 (C1) protein, DYX1C1. The human gene encoding this protein is a positional candidate gene for developmental dyslexia (DD), it is located on 15q21.3 by the DYX1 DD ...

sd00006
Location:288 → 316

TPR; TPR repeat [structural motif]

pfam00515
Location:322 → 351

TPR_1; Tetratricopeptide repeat

pfam13414
Location:287 → 351

TPR_11; TPR repeat

pfam13424
Location:324 → 396

TPR_12; Tetratricopeptide repeat

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_000075.7 Reference GRCm39 C57BL/6J

Range

72863574..72880971

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006511382.5 → XP_006511445.1 dynein axonemal assembly factor 4 isoform X2

UniProtKB/TrEMBL

E9PYU5

Conserved Domains (4) summary

cd06469
Location:10 → 87

p23_DYX1C1_like; p23_like domain found in proteins similar to dyslexia susceptibility 1 (DYX1) candidate 1 (C1) protein, DYX1C1. The human gene encoding this protein is a positional candidate gene for developmental dyslexia (DD), it is located on 15q21.3 by the DYX1 DD ...

PTZ00121
Location:106 → 270

PTZ00121; MAEBL; Provisional

TIGR00990
Location:250 → 351

3a0801s09; mitochondrial precursor proteins import receptor (72 kDa mitochondrial outermembrane protein) (mitochondrial import receptor for the ADP/ATP carrier) (translocase of outermembrane tom70)

sd00006
Location:288 → 316

TPR; TPR repeat [structural motif]
XM_017313537.2 → XP_017169026.1 dynein axonemal assembly factor 4 isoform X1

Conserved Domains (3) summary

cd06469
Location:10 → 87

p23_DYX1C1_like; p23_like domain found in proteins similar to dyslexia susceptibility 1 (DYX1) candidate 1 (C1) protein, DYX1C1. The human gene encoding this protein is a positional candidate gene for developmental dyslexia (DD), it is located on 15q21.3 by the DYX1 DD ...

TIGR00990
Location:93 → 270

3a0801s09; mitochondrial precursor proteins import receptor (72 kDa mitochondrial outermembrane protein) (mitochondrial import receptor for the ADP/ATP carrier) (translocase of outermembrane tom70)

sd00006
Location:164 → 192

TPR; TPR repeat [structural motif]