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DNAH5 dynein, axonemal, heavy chain 5 [ Homo sapiens (human) ]

Gene ID: 1767, updated on 19-Dec-2014
Official Symbol
DNAH5provided by HGNC
Official Full Name
dynein, axonemal, heavy chain 5provided by HGNC
Primary source
HGNC:HGNC:2950
See related
Ensembl:ENSG00000039139; HPRD:04514; MIM:603335; Vega:OTTHUMG00000090533
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
HL1; PCD; CILD3; KTGNR; DNAHC5
Summary
This gene encodes a dynein protein, which is part of a microtubule-associated motor protein complex consisting of heavy, light, and intermediate chains. This protein is an axonemal heavy chain dynein. It functions as a force-generating protein with ATPase activity, whereby the release of ADP is thought to produce the force-producing power stroke. Mutations in this gene cause primary ciliary dyskinesia type 3, as well as Kartagener syndrome, which are both diseases due to ciliary defects. [provided by RefSeq, Oct 2009]
See DNAH5 in Epigenomics, MapViewer
Location:
5p15.2
Exon count:
80
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 5 NC_000005.10 (13690328..14011732, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (13690437..14011841, complement)

Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene ribosomal protein S23 pseudogene 5 Neighboring gene ribosomal protein L29 pseudogene 13 Neighboring gene trio Rho guanine nucleotide exchange factor Neighboring gene uncharacterized LOC102723482 Neighboring gene family with sequence similarity 105, member A

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Associated conditions

Description Tests
Ciliary dyskinesia, primary, 3
MedGen: C1837618 OMIM: 608644 GeneReviews: Primary Ciliary Dyskinesia
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NHGRI GWAS Catalog

Description
A genome-wide meta-analysis of genetic variants associated with allergic rhinitis and grass sensitization and their interaction with birth order.
NHGRI GWA Catalog
A genome-wide search for loci interacting with known prostate cancer risk-associated genetic variants.
NHGRI GWA Catalog
Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women.
NHGRI GWA Catalog
Genome-wide association study for subclinical atherosclerosis in major arterial territories in the NHLBI's Framingham Heart Study.
NHGRI GWA Catalog
Identification of a candidate gene for astigmatism.
NHGRI GWA Catalog
  • Huntington's disease, organism-specific biosystem (from KEGG)
    Huntington's disease, organism-specific biosystemHuntington disease (HD) is an autosomal-dominant neurodegenerative disorder that primarily affects medium spiny striatal neurons (MSN). The symptoms are choreiform, involuntary movements, personality...
  • Huntington's disease, conserved biosystem (from KEGG)
    Huntington's disease, conserved biosystemHuntington disease (HD) is an autosomal-dominant neurodegenerative disorder that primarily affects medium spiny striatal neurons (MSN). The symptoms are choreiform, involuntary movements, personality...

Markers

Homology

Clone Names

  • FLJ46759, KIAA1603

Gene Ontology Provided by GOA

Function Evidence Code Pubs
ATP binding IEA
Inferred from Electronic Annotation
more info
 
ATPase activity IEA
Inferred from Electronic Annotation
more info
 
microtubule motor activity NAS
Non-traceable Author Statement
more info
PubMed 
Process Evidence Code Pubs
ATP catabolic process IEA
Inferred from Electronic Annotation
more info
 
biological_process ND
No biological Data available
more info
 
cilium movement IEA
Inferred from Electronic Annotation
more info
 
lateral ventricle development IEA
Inferred from Electronic Annotation
more info
 
left/right axis specification IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
axonemal dynein complex IEA
Inferred from Electronic Annotation
more info
 
axoneme IDA
Inferred from Direct Assay
more info
PubMed 
cellular_component ND
No biological Data available
more info
 
microtubule IEA
Inferred from Electronic Annotation
more info
 
Preferred Names
dynein heavy chain 5, axonemal
Names
dynein heavy chain 5, axonemal
ciliary dynein heavy chain 5
axonemal beta dynein heavy chain 5
dynein, axonemal, heavy polypeptide 5

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.

Genomic

  1. NG_013081.1 

    Range
    5001..259153
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001369.2NP_001360.1  dynein heavy chain 5, axonemal

    See proteins identical to NP_001360.1

    Status: REVIEWED

    Source sequence(s)
    AB046823, AY045575, CA314998
    Consensus CDS
    CCDS3882.1
    UniProtKB/Swiss-Prot
    Q8TE73
    Related
    ENSP00000265104, OTTHUMP00000115635, ENST00000265104, OTTHUMT00000207057
    Conserved Domains (8) summary
    pfam12775
    Location:25612825
    AAA_7; P-loop containing dynein motor region D3
    pfam12777
    Location:32023547
    MT; Microtubule-binding stalk of dynein motor
    pfam12780
    Location:29173186
    AAA_8; P-loop containing dynein motor region D4
    pfam12781
    Location:35663795
    AAA_9; ATP-binding dynein motor region D5
    pfam03028
    Location:39324622
    Dynein_heavy; Dynein heavy chain and region D6 of dynein motor
    pfam08385
    Location:246804
    DHC_N1; Dynein heavy chain, N-terminal region 1
    pfam08393
    Location:14041812
    DHC_N2; Dynein heavy chain, N-terminal region 2
    cl18944
    Location:19422173
    AAA; The AAA+ (ATPases Associated with a wide variety of cellular Activities) superfamily represents an ancient group of ATPases belonging to the ASCE (for additional strand, catalytic E) division of the P-loop NTPase fold. The ASCE division also includes ABC, ...

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

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

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000005.10 

    Range
    13690328..14011732
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005248262.1XP_005248319.1  

    Conserved Domains (8) summary
    pfam12775
    Location:25462810
    AAA_7; P-loop containing dynein motor region D3
    pfam12777
    Location:31873532
    MT; Microtubule-binding stalk of dynein motor
    pfam12780
    Location:29023171
    AAA_8; P-loop containing dynein motor region D4
    pfam12781
    Location:35513780
    AAA_9; ATP-binding dynein motor region D5
    pfam03028
    Location:39174607
    Dynein_heavy; Dynein heavy chain and region D6 of dynein motor
    pfam08385
    Location:231789
    DHC_N1; Dynein heavy chain, N-terminal region 1
    pfam08393
    Location:13891797
    DHC_N2; Dynein heavy chain, N-terminal region 2
    cl18944
    Location:19272158
    AAA; The AAA+ (ATPases Associated with a wide variety of cellular Activities) superfamily represents an ancient group of ATPases belonging to the ASCE (for additional strand, catalytic E) division of the P-loop NTPase fold. The ASCE division also includes ABC, ...

Alternate CHM1_1.1

Genomic

  1. NC_018916.2 

    Range
    13690308..13944156
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

  1. AC_000137.1 

    Range
    13661841..13916517
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)