Gene

dnaaf1

ID

ZDB-GENE-031114-4

Name

dynein axonemal assembly factor 1

Symbol

dnaaf1 Nomenclature History

Previous Names

loc123872 (1)
lrrc50
switch hitter (1)
swt (1)
unm tm317b
zgc:56169

Type

protein_coding_gene

Location

Chr: 7 Mapping Details/Browsers

Description

Exhibits dynein complex binding activity. Involved in several processes, including axoneme assembly; convergent extension involved in gastrulation; and embryonic heart tube development. Predicted to localize to axoneme. Used to study autosomal dominant polycystic kidney disease; seminoma; and testicular germ cell cancer. Human ortholog(s) of this gene implicated in primary ciliary dyskinesia 13. Is expressed in several structures, including chordo neural hinge; forerunner cell group; intermediate mesoderm; nervous system; and pronephric duct. Orthologous to human DNAAF1 (dynein axonemal assembly factor 1).

Genome Resources

Note

None

Comparative Information

Expression

All Expression Data

4 figures from 4 publications

Cross-Species Comparison

High Throughput Data

GEO (1)

Expression Atlas

UO scRNA-seq (UCSC browser)

Single Cell Expression Atlas

Daniocell

Thisse Expression Data

No data available

Wild Type Expression Summary

Phenotype

All Phenotype Data: 29 figures from 14 publications
Cross-Species Comparison: Alliance

Phenotype Summary

Mutations

Mutants

Sequence Targeting Reagents

Human Disease

Associated With dnaaf1 Human Ortholog

Disease Ontology Term	Multi-Species Data	OMIM Term	OMIM Phenotype ID
primary ciliary dyskinesia 13	Alliance	Ciliary dyskinesia, primary, 13	613193

Associated With dnaaf1 Via Experimental Models

Human Disease	Fish	Conditions	Citations
testicular germ cell cancer	dnaaf1^hu255H/+	standard conditions	Litchfield et al., 2016
idiopathic scoliosis	dnaaf1^{zf3430/zf3430}	standard conditions	Wang et al., 2020
autosomal dominant polycystic kidney disease	dnaaf1^{tm317b/tm317b}	standard conditions	Sullivan-Brown et al., 2008
seminoma	dnaaf1^hu255H/+	standard conditions	Basten et al., 2013

Gene Ontology

Protein Domains

Domain, Family, and Site Summary

Type	InterPro ID	Name
Family	IPR050576	Ciliary and flagellar integrity-associated protein
Homologous_superfamily	IPR032675	Leucine-rich repeat domain superfamily
Repeat	IPR001611	Leucine-rich repeat

Domain Details Per Protein

Protein	Length	Ciliary and flagellar integrity-associated protein	Leucine-rich repeat	Leucine-rich repeat domain superfamily
UniProtKB:F1Q654 InterPro	562
UniProtKB:Q7ZV84 InterPro	555

Transcripts

Genome Browsers

Type	Name	Annotation Method	Length (nt)	Analysis
aberrant processed transcript	dnaaf1-202 (1) Ensembl	Ensembl	604 nt	Select Tool
mRNA	dnaaf1-201 (1) Ensembl	Ensembl	2,594 nt	Select Tool
mRNA	dnaaf1-203 (1) Ensembl	Ensembl	550 nt	Select Tool

Interactions and Pathways

No data available

Antibodies

No data available

Plasmids

No data available

Constructs

Marker Relationships

Sequences

Orthology

Comparative Orthology: Alliance
Gene Tree: Ensembl

Citations