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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 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; chr5:13690328-14011732 (-)  GRCh38
Disease Associations  (1) Diseases Associated with Human DNAH5
Alleles
and
phenotypes
All alleles(14) : Chemically induced (ENU)(10) Gene trapped(1) Targeted(2) Transgenic(1)
Incidental mutations (data from Mutagenetix , APF )
 
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(11)    Phenotype Images(119)
Gene Ontology
(GO)
classifications
All GO classifications: (20 annotations)
Process cilium movement, lateral ventricle development, ...
Component axonemal dynein complex, axoneme, ...
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 ModelOTTMUSG00000026038 (Evidence)
Ensembl Gene ModelENSMUSG00000022262 (Evidence)
Entrez Gene110082 (Evidence)
UniGene248464
DFCITC1587582, TC1613185
DoTSDT.40185430, DT.40185431
NIA Mouse Gene IndexU016126
Consensus CDS ProjectCCDS27404.1
International Mouse Knockout Project StatusDnah5
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000026038 VEGA Gene Model | MGI Sequence Detail 268294 C57BL/6J ±  kb
transcript OTTMUST00000064272 VEGA | MGI Sequence Detail 15630 Not Applicable 
polypeptide OTTMUSP00000031890 VEGA | MGI Sequence Detail 4621 Not Applicable 

For the selected sequences
All sequences(27) RefSeq(6) UniProt(3)
Polymorphisms RFLP(1) : SNPs within 2kb(1729 from dbSNP Build 137)    SNPs within 2kb including multiple locations(1731)
Protein-related
information
ResourceIDDescription
InterPro IPR003593 AAA+ ATPase domain
InterPro IPR011704 ATPase, dynein-related, AAA domain
InterPro IPR026983 Dynein heavy chain
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
InterPro IPR027417 P-loop containing nucleoside triphosphate hydrolase
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:206685 Hjeij R, et al., ARMC4 mutations cause primary ciliary dyskinesia with randomization of left/right body asymmetry. Am J Hum Genet. 2013 Aug 8;93(2):357-67
All references(38)
Other
accession IDs
MGD-MRK-36294, MGI:2146141, MGI:5311155, MGI:5311349, MGI:5311351, MGI:5430340, MGI:5433314

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
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last database update
07/15/2014
MGI 5.18
The Jackson Laboratory