Dnah5
Gene Detail

Symbol Name ID

Dnah5 dynein, axonemal, heavy chain 5 MGI:107718

Synonyms

b2b1134Clo, b2b1154Clo, b2b1537Clo, b2b1565Clo, Dnahc5, Mdnah5

Feature Type

protein coding gene

Genetic Map

Chromosome 15

10.90 cM
Detailed Genetic Map ± 1 cM


Mapping data(2)

Sequence Map

Chr15:28203752-28472045 bp, + strand From VEGA annotation of GRCm38   268294 bp   ±  kb flank VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer

Mouse Genome Browser

Vertebrate homology

HomoloGene:1048  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken

Protein SuperFamily: dynein heavy chain, ciliary
Gene Tree: Dnah5

Human homologs

Human Homolog		DNAH5, dynein, axonemal, heavy chain 5
NCBI Gene ID		1767
neXtProt AC		NX_Q8TE73
Human Synonyms		CILD3, DNAHC5, HL1, KTGNR, PCD
Human Chr (Location)		5p15.2; chr5:13690437-13944589 (-)  GRCh37.p10
Disease Associations		(1) Diseases Associated with Human DNAH5

Alleles and phenotypes

All alleles(13) : Targeted(2) Gene trapped(1) Transgenic(1) Chemically induced(9)
 

Mice homozygous for a disruption in this gene display postnatal lethality, hydrocephalus, respiratory infections, situs inversus and ciliary immotility.

 
Human Diseases Modeled Using Mouse Dnah5 (4)    Alleles Annotated to Human Diseases(6)    Phenotype Images(73)

Gene Ontology (GO) classifications

All GO classifications: (19 annotations)

Process	ciliary or flagellar motility, metabolic process, ...
Component	axonemal dynein complex, cell projection, ...
Function	ATPase activity, ATP binding, ...

External Resources: FuncBase

Expression

Literature Summary: (1 records)
cDNA source data(10)
External Resources: Allen Institute   GEO   ArrayExpress

Molecular reagents

All nucleic(11) cDNA(11)
Microarray probesets(3)

Other database links

VEGA Gene Model	OTTMUSG00000026038 (Evidence)
Ensembl Gene Model	ENSMUSG00000022262 (Evidence)
Entrez Gene	110082 (Evidence)
UniGene	248464
DFCI	TC1587582, TC1613185
DoTS	DT.40185430, DT.40185431
NIA Mouse Gene Index	U016126
Consensus CDS Project	CCDS27404.1
International Mouse Knockout Project Status	Dnah5

Sequences

Length	Strain/Species
genomic	OTTMUSG00000026038	VEGA Gene Model | MGI Sequence Detail	268294	C57BL/6J
transcript	OTTMUST00000064272	VEGA | MGI Sequence Detail	15630	Not Applicable
polypeptide	OTTMUSP00000031890	VEGA | MGI Sequence Detail	4621	Not Applicable

All sequences(23) RefSeq(2) UniProt(3)

Polymorphisms

RFLP(1) : SNPs(890 from dbSNP Build 128)

Protein-related information

Resource	ID	Description
InterPro	IPR003593	AAA+ ATPase domain
InterPro	IPR011704	ATPase, dynein-related, AAA domain
InterPro	IPR026983	Dynein heavy chain
InterPro	IPR026978	Dynein heavy chain 5, axonemal
InterPro	IPR024743	Dynein heavy chain, coiled coil stalk
InterPro	IPR004273	Dynein heavy chain domain
InterPro	IPR013594	Dynein heavy chain, domain-1
InterPro	IPR013602	Dynein heavy chain, domain-2
InterPro	IPR024317	Dynein heavy chain, P-loop containing D4 domain
Protein Ontology	PR:000006564	dynein heavy chain 5, axonemal

References

(Earliest) J:34934 Vaughan KT, et al., Multiple mouse chromosomal loci for dynein-based motility. Genomics. 1996 Aug 15;36(1):29-38
(Latest) J:173534 Skarnes WC, et al., A conditional knockout resource for the genome-wide study of mouse gene function. Nature. 2011 Jun 16;474(7351):337-42
All references(36)

Other accession IDs

MGD-MRK-36294, MGI:2146141, MGI:5311155, MGI:5311349, MGI:5311351, MGI:5430340, MGI:5433314