Daw1 dynein assembly factor with WDR repeat domains 1 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Daw1provided by MGI
Official Full Name: dynein assembly factor with WDR repeat domains 1provided by MGI
Primary source: MGI:MGI:1923089
See related: Ensembl:ENSMUSG00000053161 AllianceGenome:MGI:1923089
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: Wdr69; b2b1116Clo; b2b1584Clo; 4930563E19Rik; 4933429D11Rik
Summary: Predicted to enable ubiquitin-like ligase-substrate adaptor activity. Acts upstream of or within several processes, including cerebrospinal fluid circulation; determination of left/right symmetry; and outer dynein arm assembly. Predicted to be located in ciliary basal body. Predicted to be part of SCF ubiquitin ligase complex. Is expressed in node. Used to study Kartagener syndrome; primary ciliary dyskinesia; and visceral heterotaxy. Human ortholog(s) of this gene implicated in primary ciliary dyskinesia. Orthologous to human DAW1 (dynein assembly factor with WD repeats 1). [provided by Alliance of Genome Resources, Nov 2024]
Expression: Biased expression in testis adult (RPKM 4.1), bladder adult (RPKM 0.5) and 5 other tissues See more
Orthologs: human all
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Genomic context

Location:: 1 C5; 1 42.7 cM

Exon count:: 15

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	1	NC_000067.7 (83136610..83188298)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	1	NC_000067.6 (83159742..83210577)

Chromosome 1 - NC_000067.7 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 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?

Biallelic DAW1 variants cause a motile ciliopathy characterized by laterality defects and subtle ciliary beating abnormalities.
Title: Biallelic DAW1 variants cause a motile ciliopathy characterized by laterality defects and subtle ciliary beating abnormalities.

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Variation

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Alleles

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

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

General gene information

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Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables ubiquitin-like ligase-substrate adaptor activity	IBA Inferred from Biological aspect of Ancestor more info

Process	Evidence Code	Pubs
acts_upstream_of_or_within cerebrospinal fluid circulation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within determination of left/right symmetry	IMP Inferred from Mutant Phenotype more info	PubMed
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
acts_upstream_of_or_within heart development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within_positive_effect intraciliary transport	ISS Inferred from Sequence or Structural Similarity more info
acts_upstream_of_or_within outer dynein arm assembly	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_positive_effect outer dynein arm assembly	ISS Inferred from Sequence or Structural Similarity more info
involved_in protein polyubiquitination	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
part_of SCF ubiquitin ligase complex	IBA Inferred from Biological aspect of Ancestor more info
located_in ciliary basal body	ISS Inferred from Sequence or Structural Similarity more info
located_in cilium	ISS Inferred from Sequence or Structural Similarity more info
located_in cytoplasm	IEA Inferred from Electronic Annotation more info
located_in extracellular region	IEA Inferred from Electronic Annotation more info
located_in motile cilium	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: dynein assembly factor with WD repeat domains 1

Names: WD repeat domain 69

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_001372243.1 → NP_001359172.1 dynein assembly factor with WD repeat domains 1 isoform b

Status: VALIDATED

Description

Transcript Variant: This variant (3) represents the longest transcript and encodes the longest isoform (b).

Source sequence(s)

AC123676, AC138359

Conserved Domains (3) summary

smart00320
Location:99 → 133

WD40; WD40 repeats

cd00200
Location:139 → 428

WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...

sd00039
Location:150 → 188

7WD40; WD40 repeat [structural motif]
NM_001372244.1 → NP_001359173.1 dynein assembly factor with WD repeat domains 1 isoform c

Status: VALIDATED

Source sequence(s)

AC123676, AC138359

Consensus CDS

CCDS87856.1

UniProtKB/Swiss-Prot

D3Z7A5

Related

ENSMUSP00000067583.7, ENSMUST00000065403.7

Conserved Domains (3) summary

smart00320
Location:86 → 120

WD40; WD40 repeats

cd00200
Location:126 → 415

WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...

sd00039
Location:137 → 175

7WD40; WD40 repeat [structural motif]
NM_001372245.1 → NP_001359174.1 dynein assembly factor with WD repeat domains 1 isoform d

Status: VALIDATED

Source sequence(s)

AC123676, AC138359

Conserved Domains (2) summary

cd00200
Location:97 → 323

WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...

sd00039
Location:109 → 145

7WD40; WD40 repeat [structural motif]
NM_027725.3 → NP_082001.2 dynein assembly factor with WD repeat domains 1 isoform a

See identical proteins and their annotated locations for NP_082001.2

Status: VALIDATED

Source sequence(s)

BC049704, BC145995

Consensus CDS

CCDS15103.1

UniProtKB/TrEMBL

A6H6T7

Related

ENSMUSP00000067102.4, ENSMUST00000065436.10

Conserved Domains (2) summary

cd00200
Location:84 → 310

WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...

sd00039
Location:96 → 132

7WD40; WD40 repeat [structural motif]

RNA

NR_027636.1 RNA Sequence

Status: VALIDATED

Description

Transcript Variant: This variant (2) contains several alternate exons and uses an alternate splice junction at the 5' end of an exon compared to variant 1. Usage of the alternate splice junction causes this transcript to be a candidate for nonsense-mediated mRNA decay (NMD), so it is thought that it is not protein-coding.

Source sequence(s)

AK016201, BC049704, BC145995, BU612798

Related

ENSMUST00000149342.8
NR_164164.1 RNA Sequence

Status: VALIDATED

Source sequence(s)

AC123676, AC138359
NR_164165.1 RNA Sequence

Status: VALIDATED

Source sequence(s)

AC123676, AC138359

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_000067.7 Reference GRCm39 C57BL/6J

Range

83136610..83188298

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011238710.4 → XP_011237012.1 dynein assembly factor with WD repeat domains 1 isoform X1

Conserved Domains (3) summary

smart00320
Location:84 → 118

WD40; WD40 repeats

cd00200
Location:124 → 413

WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...

sd00039
Location:135 → 173

7WD40; WD40 repeat [structural motif]
XM_011238711.4 → XP_011237013.1 dynein assembly factor with WD repeat domains 1 isoform X3

Conserved Domains (3) summary

smart00320
Location:71 → 105

WD40; WD40 repeats

cd00200
Location:111 → 400

WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...

sd00039
Location:122 → 160

7WD40; WD40 repeat [structural motif]
XM_036153685.1 → XP_036009578.1 dynein assembly factor with WD repeat domains 1 isoform X2

Conserved Domains (3) summary

smart00320
Location:79 → 113

WD40; WD40 repeats

cd00200
Location:119 → 408

WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...

sd00039
Location:130 → 168

7WD40; WD40 repeat [structural motif]