DAW1 dynein assembly factor with WD repeats 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: DAW1provided by HGNC
Official Full Name: dynein assembly factor with WD repeats 1provided by HGNC
Primary source: HGNC:HGNC:26383
See related: Ensembl:ENSG00000123977 MIM:620279; AllianceGenome:HGNC:26383
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: ODA16; WDR69; CILD52; DNAAF18
Summary: Predicted to act 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 cilium and extracellular region. [provided by Alliance of Genome Resources, Apr 2022]
Expression: Restricted expression toward testis (RPKM 20.0) See more
Orthologs: mouse all
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Genomic context

Location:: 2q36.3

Exon count:: 16

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	2	NC_000002.12 (227871631..227924344)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	2	NC_060926.1 (228353961..228406760)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	2	NC_000002.11 (228736347..228789060)

Chromosome 2 - NC_000002.12 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: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

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.
Purification and crystal structure of human ODA16: Implications for ciliary import of outer dynein arms by the intraflagellar transport machinery.
Title: Purification and crystal structure of human ODA16: Implications for ciliary import of outer dynein arms by the intraflagellar transport machinery.
This paper describes a Chlamydmonas reinhardtii protein with 70% similarity to human WD repeat domain 69 protein. The protein is expressed in flagella and required for assembly of the flagellar outer row dynein ATPase, though it is not a dynein subunit.
Title: ODA16p, a Chlamydomonas flagellar protein needed for dynein assembly.

Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Ciliary dyskinesia, primary, 52 MedGen: CN375806 OMIM: 620570 GeneReviews: Not available	not available

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables ubiquitin-like ligase-substrate adaptor activity	IBA Inferred from Biological aspect of Ancestor more info

Process	Evidence Code	Pubs
involved_in biological_process	ND No biological Data available more info
involved_in cerebrospinal fluid circulation	IEA Inferred from Electronic Annotation more info
involved_in determination of left/right symmetry	IEA Inferred from Electronic Annotation more info
involved_in heart development	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within_positive_effect intraciliary transport	ISS Inferred from Sequence or Structural Similarity more info
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
is_active_in cellular_component	ND No biological Data available 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; WD repeat-containing protein 69; dynein assembly factor with WDR repeat domains 1; dynein axonemal assembly factor 18; outer row dynein assembly 16 homolog; outer row dynein assembly protein 16 homolog; testis tissue sperm-binding protein Li 93mP

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_001330004.2 → NP_001316933.1 dynein assembly factor with WD repeat domains 1 isoform 2

Status: VALIDATED

Description

Transcript Variant: This variant (2) contains an alternate exon in the 5' end compared to variant 1. The resulting isoform (2) is shorter at the N-terminus compared to isoform 1.

Source sequence(s)

AC073065, AK097409, AK301861, BM981084

Conserved Domains (4) summary

smart00320
Location:66 → 105

WD40; WD40 repeats

COG2319
Location:23 → 399

WD40; WD40 repeat [General function prediction only]

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]
NM_178821.3 → NP_849143.1 dynein assembly factor with WD repeat domains 1 isoform 1

See identical proteins and their annotated locations for NP_849143.1

Status: VALIDATED

Description

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

Source sequence(s)

AK097409, BM981084

Consensus CDS

CCDS2470.1

UniProtKB/Swiss-Prot

Q6ZRY1, Q8N136, Q8N776

UniProtKB/TrEMBL

A0A140VKH6

Related

ENSP00000311899.2, ENST00000309931.3

Conserved Domains (4) summary

smart00320
Location:81 → 120

WD40; WD40 repeats

COG1503
Location:22 → 90

eRF1; Peptide chain release factor 1 (eRF1) [Translation, ribosomal structure and biogenesis]

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]

RNA

NR_138459.2 RNA Sequence

Status: VALIDATED

Description

Transcript Variant: This variant (3) contains an alternate internal exon compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).

Source sequence(s)

AC073065, AK127882, BM981084

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000002.12 Reference GRCh38.p14 Primary Assembly

Range

227871631..227924344

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_047443536.1 → XP_047299492.1 dynein assembly factor with WD repeat domains 1 isoform X1

Alternate T2T-CHM13v2.0

Genomic

NC_060926.1 Alternate T2T-CHM13v2.0

Range

228353961..228406760

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054340821.1 → XP_054196796.1 dynein assembly factor with WD repeat domains 1 isoform X1
XM_054340822.1 → XP_054196797.1 dynein assembly factor with WD repeat domains 1 isoform X2