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

Gene ID: 1767, updated on 17-Jun-2019

Summary

Official Symbol
DNAH5provided by HGNC
Official Full Name
dynein axonemal heavy chain 5provided by HGNC
Primary source
HGNC:HGNC:2950
See related
Ensembl:ENSG00000039139 MIM:603335
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]
Expression
Biased expression in lung (RPKM 1.0), thyroid (RPKM 0.6) and 10 other tissues See more
Orthologs

Genomic context

See DNAH5 in Genome Data Viewer
Location:
5p15.2
Exon count:
86
Annotation release Status Assembly Chr Location
109.20190607 current GRCh38.p13 (GCF_000001405.39) 5 NC_000005.10 (13690328..14011829, 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 uncharacterized LOC105374660 Neighboring gene neudesin neurotrophic factor pseudogene 3 Neighboring gene ribosomal protein L29 pseudogene 13 Neighboring gene meiotic recombination hotspot J Neighboring gene trio Rho guanine nucleotide exchange factor Neighboring gene small nucleolar RNA, C/D box 170 Neighboring gene OTU deubiquitinase with linear linkage specificity like

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

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

Pathways from BioSystems

  • 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...

General gene information

Markers

Homology

Clone Names

  • FLJ46759, KIAA1603

Gene Ontology Provided by GOA

Function Evidence Code Pubs
ATP binding IEA
Inferred from Electronic Annotation
more info
 
ATP-dependent microtubule motor activity, minus-end-directed IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
dynein intermediate chain binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
dynein light chain binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
dynein light intermediate chain binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
cilium assembly IMP
Inferred from Mutant Phenotype
more info
PubMed 
cilium movement IMP
Inferred from Mutant Phenotype
more info
PubMed 
determination of left/right symmetry IMP
Inferred from Mutant Phenotype
more info
PubMed 
epithelial cilium movement IEA
Inferred from Electronic Annotation
more info
 
flagellated sperm motility IMP
Inferred from Mutant Phenotype
more info
PubMed 
heart development IEA
Inferred from Electronic Annotation
more info
 
lateral ventricle development IEA
Inferred from Electronic Annotation
more info
 
microtubule-based movement IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
outer dynein arm assembly IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
outer dynein arm assembly IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
9+2 motile cilium IDA
Inferred from Direct Assay
more info
PubMed 
axoneme IDA
Inferred from Direct Assay
more info
PubMed 
dynein complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
extracellular region IEA
Inferred from Electronic Annotation
more info
 
microtubule IEA
Inferred from Electronic Annotation
more info
 
outer dynein arm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
outer dynein arm IDA
Inferred from Direct Assay
more info
PubMed 
outer dynein arm IMP
Inferred from Mutant Phenotype
more info
PubMed 

General protein information

Preferred Names
dynein heavy chain 5, axonemal
Names
axonemal beta dynein heavy chain 5
ciliary dynein heavy chain 5
dynein, axonemal, heavy polypeptide 5

NCBI Reference Sequences (RefSeq)

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_013081.2 RefSeqGene

    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 identical proteins and their annotated locations for NP_001360.1

    Status: REVIEWED

    Source sequence(s)
    AB046823, AY045575, CA314998
    Consensus CDS
    CCDS3882.1
    UniProtKB/Swiss-Prot
    Q8TE73
    Related
    ENSP00000265104.4, ENST00000265104.4
    Conserved Domains (7) summary
    pfam03028
    Location:39324613
    Dynein_heavy; Dynein heavy chain and region D6 of dynein motor
    pfam08385
    Location:248802
    DHC_N1; Dynein heavy chain, N-terminal region 1
    pfam08393
    Location:14051807
    DHC_N2; Dynein heavy chain, N-terminal region 2
    pfam12777
    Location:32023547
    MT; Microtubule-binding stalk of dynein motor
    pfam12781
    Location:35753791
    AAA_9; ATP-binding dynein motor region D5
    pfam16999
    Location:32063303
    V-ATPase_G_2; Vacuolar (H+)-ATPase G subunit
    cl21455
    Location:19422173
    P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000005.10 Reference GRCh38.p13 Primary Assembly

    Range
    13690328..14011829 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017009177.1XP_016864666.1  dynein heavy chain 5, axonemal isoform X2

  2. XM_005248262.3XP_005248319.2  dynein heavy chain 5, axonemal isoform X1

  3. XM_024454389.1XP_024310157.1  dynein heavy chain 5, axonemal isoform X5

    Conserved Domains (4) summary
    pfam03028
    Location:34684154
    Dynein_heavy; Dynein heavy chain and region D6 of dynein motor
    pfam08385
    Location:1336
    DHC_N1; Dynein heavy chain, N-terminal region 1
    pfam08393
    Location:9431341
    DHC_N2; Dynein heavy chain, N-terminal region 2
    cl25937
    Location:11773819
    MT; Microtubule-binding stalk of dynein motor
  4. XM_024454388.1XP_024310156.1  dynein heavy chain 5, axonemal isoform X3

    Conserved Domains (4) summary
    pfam03028
    Location:36054291
    Dynein_heavy; Dynein heavy chain and region D6 of dynein motor
    pfam08385
    Location:1473
    DHC_N1; Dynein heavy chain, N-terminal region 1
    pfam08393
    Location:10801478
    DHC_N2; Dynein heavy chain, N-terminal region 2
    cl25937
    Location:13143956
    MT; Microtubule-binding stalk of dynein motor
  5. XM_017009178.1XP_016864667.1  dynein heavy chain 5, axonemal isoform X3

    Conserved Domains (4) summary
    pfam03028
    Location:36054291
    Dynein_heavy; Dynein heavy chain and region D6 of dynein motor
    pfam08385
    Location:1473
    DHC_N1; Dynein heavy chain, N-terminal region 1
    pfam08393
    Location:10801478
    DHC_N2; Dynein heavy chain, N-terminal region 2
    cl25937
    Location:13143956
    MT; Microtubule-binding stalk of dynein motor
  6. XM_017009179.2XP_016864668.1  dynein heavy chain 5, axonemal isoform X3

    Conserved Domains (4) summary
    pfam03028
    Location:36054291
    Dynein_heavy; Dynein heavy chain and region D6 of dynein motor
    pfam08385
    Location:1473
    DHC_N1; Dynein heavy chain, N-terminal region 1
    pfam08393
    Location:10801478
    DHC_N2; Dynein heavy chain, N-terminal region 2
    cl25937
    Location:13143956
    MT; Microtubule-binding stalk of dynein motor
  7. XM_017009185.1XP_016864674.1  dynein heavy chain 5, axonemal isoform X10

  8. XM_017009186.1XP_016864675.1  dynein heavy chain 5, axonemal isoform X11

  9. XM_017009188.1XP_016864677.1  dynein heavy chain 5, axonemal isoform X13

  10. XM_017009180.1XP_016864669.1  dynein heavy chain 5, axonemal isoform X4

  11. XM_017009181.1XP_016864670.1  dynein heavy chain 5, axonemal isoform X6

  12. XM_017009182.1XP_016864671.1  dynein heavy chain 5, axonemal isoform X7

  13. XM_017009183.1XP_016864672.1  dynein heavy chain 5, axonemal isoform X8

  14. XM_017009184.1XP_016864673.1  dynein heavy chain 5, axonemal isoform X9

  15. XM_017009187.1XP_016864676.1  dynein heavy chain 5, axonemal isoform X12

RNA

  1. XR_001742034.1 RNA Sequence

  2. XR_001742035.1 RNA Sequence

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