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

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; AllianceGenome:HGNC:2950
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: mouse all
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Genomic context

Location:: 5p15.2

Exon count:: 86

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	5	NC_000005.10 (13690328..14011818, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	5	NC_060929.1 (13627358..13948914, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	5	NC_000005.9 (13690437..13944797, complement)

Chromosome 5 - NC_000005.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues 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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Identification and validation of a prognostic-related mutant gene DNAH5 for hepatocellular carcinoma.
Title: Identification and validation of a prognostic-related mutant gene DNAH5 for hepatocellular carcinoma.
Characteristic genetic spectrum of primary ciliary dyskinesia in Japanese patients and global ethnic heterogeneity: population-based genomic variation database analysis.
Title: Characteristic genetic spectrum of primary ciliary dyskinesia in Japanese patients and global ethnic heterogeneity: population-based genomic variation database analysis.
DNAH5 gene and its correlation with linc02220 expression and sperm characteristics.
Title: DNAH5 gene and its correlation with linc02220 expression and sperm characteristics.
Genome-wide association study in minority children with asthma implicates DNAH5 in bronchodilator responsiveness.
Title: Genome-wide association study in minority children with asthma implicates DNAH5 in bronchodilator responsiveness.
Novel homozygous mutations of DNAH5 in Kartagener syndrome.
Title: Novel homozygous mutations of DNAH5 in Kartagener syndrome.
Novel compound heterozygous mutations of DNAH5 identified in a pediatric patient with Kartagener syndrome: case report and literature review.
Title: Novel compound heterozygous mutations of DNAH5 identified in a pediatric patient with Kartagener syndrome: case report and literature review.
Genome-wide association analysis of cognitive function in Danish long-lived individuals.
Title: Genome-wide association analysis of cognitive function in Danish long-lived individuals.
We identified two rare nonsynonymous variants in the dynein axonemal heavy chain 5 gene (DNAH5): a previously reported variant c.7502G > C; p.(R2501P), and a novel variant c.12043 T > G; p.(Y4015D). . Individual 2 had non-syndromic SI and DD. In individual 2, one rare variant (c.9110A > G;p.(H3037R)) in the dynein axonemal heavy chain 11 gene (DNAH11), coding for another component of the outer dynein arm, was identified.
Title: Rare variants in dynein heavy chain genes in two individuals with situs inversus and developmental dyslexia: a case report.
Both DNAH5 and ADGRV1 contribute to ciliary function.
Title: A novel role for ciliary function in atopy: ADGRV1 and DNAH5 interactions.
A novel mutation causing primary ciliary dyskinesia was found in Japanese patients.
Title: A targeted next-generation sequencing panel reveals novel mutations in Japanese patients with primary ciliary dyskinesia.

Submit: New GeneRIF Correction See all GeneRIFs (25)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Primary ciliary dyskinesia 3 MedGen: C1837618 OMIM: 608644 GeneReviews: Primary Ciliary Dyskinesia	Compare labs

EBI GWAS Catalog

Description
A genome-wide meta-analysis of genetic variants associated with allergic rhinitis and grass sensitization and their interaction with birth order. EBI GWAS Catalog EBI GWAS CatalogPubMed
A genome-wide search for loci interacting with known prostate cancer risk-associated genetic variants. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study for subclinical atherosclerosis in major arterial territories in the NHLBI's Framingham Heart Study. EBI GWAS Catalog EBI GWAS CatalogPubMed
Identification of a candidate gene for astigmatism. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

L28342 (e-PCR)
- UniSTS:19729

D5S2866 (e-PCR)
- UniSTS:61720

SHGC-110163 (e-PCR)
- UniSTS:167724

D5S2890 (e-PCR)
- UniSTS:69423

SHGC-83930 (e-PCR)
- UniSTS:103611

DNAH5 (e-PCR)
- UniSTS:505815

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables ATP binding	IEA Inferred from Electronic Annotation more info
enables ATP hydrolysis activity	IEA Inferred from Electronic Annotation more info
enables dynein intermediate chain binding	IBA Inferred from Biological aspect of Ancestor more info
enables dynein light intermediate chain binding	IBA Inferred from Biological aspect of Ancestor more info
enables minus-end-directed microtubule motor activity	IBA Inferred from Biological aspect of Ancestor more info

Process	Evidence Code	Pubs
acts_upstream_of_or_within cilium assembly	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within cilium movement	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cilium movement involved in cell motility	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within determination of left/right symmetry	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in epithelial cilium movement involved in extracellular fluid movement	IEA Inferred from Electronic Annotation more info
involved_in establishment of localization in cell	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within flagellated sperm motility	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in heart development	IEA Inferred from Electronic Annotation more info
involved_in lateral ventricle development	IEA Inferred from Electronic Annotation more info
involved_in outer dynein arm assembly	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within outer dynein arm assembly	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in 9+0 motile cilium	IEA Inferred from Electronic Annotation more info
is_active_in 9+2 motile cilium	IBA Inferred from Biological aspect of Ancestor more info
located_in 9+2 motile cilium	IDA Inferred from Direct Assay more info	PubMed
located_in axoneme	IDA Inferred from Direct Assay more info	PubMed
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in extracellular region	IEA Inferred from Electronic Annotation more info
located_in microtubule	IEA Inferred from Electronic Annotation more info
located_in motile cilium	IDA Inferred from Direct Assay more info	PubMed
part_of outer dynein arm	IBA Inferred from Biological aspect of Ancestor more info
part_of outer dynein arm	IDA Inferred from Direct Assay more info	PubMed
part_of outer dynein arm	IMP Inferred from Mutant Phenotype more info	PubMed

General protein information

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Preferred Names: dynein axonemal heavy chain 5

Names: axonemal beta dynein heavy chain 5; ciliary dynein heavy chain 5; dynein heavy chain 5, axonemal; dynein, axonemal, heavy polypeptide 5

NCBI Reference Sequences (RefSeq)

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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

NG_013081.2 RefSeqGene

Range

4793..259153

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001369.3 → NP_001360.1 dynein axonemal heavy chain 5

See identical proteins and their annotated locations for NP_001360.1

Status: REVIEWED

Source sequence(s)

AC016546, AC016576, AC026811

Consensus CDS

CCDS3882.1

UniProtKB/Swiss-Prot

Q8TE73, Q92860, Q96L74, Q9H5S7, Q9HCG9

UniProtKB/TrEMBL

A0A7P0Z455

Related

ENSP00000265104.4, ENST00000265104.5

Conserved Domains (7) summary

pfam03028
Location:3932 → 4613

Dynein_heavy; Dynein heavy chain and region D6 of dynein motor

pfam08385
Location:248 → 802

DHC_N1; Dynein heavy chain, N-terminal region 1

pfam08393
Location:1405 → 1807

DHC_N2; Dynein heavy chain, N-terminal region 2

pfam12777
Location:3202 → 3547

MT; Microtubule-binding stalk of dynein motor

pfam12781
Location:3575 → 3791

AAA_9; ATP-binding dynein motor region D5

pfam16999
Location:3206 → 3303

V-ATPase_G_2; Vacuolar (H+)-ATPase G subunit

cl21455
Location:1942 → 2173

P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000005.10 Reference GRCh38.p14 Primary Assembly

Range

13690328..14011818 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_017009177.2 → XP_016864666.1 dynein axonemal heavy chain 5 isoform X3

UniProtKB/TrEMBL

A0A7P0Z455
XM_005248262.4 → XP_005248319.2 dynein axonemal heavy chain 5 isoform X1

UniProtKB/TrEMBL

A0A7P0Z455

Related

ENSP00000505288.1, ENST00000681290.1
XM_047416886.1 → XP_047272842.1 dynein axonemal heavy chain 5 isoform X2
XM_017009179.3 → XP_016864668.1 dynein axonemal heavy chain 5 isoform X4

UniProtKB/TrEMBL

A0A7P0Z455

Conserved Domains (4) summary

pfam03028
Location:3605 → 4291

Dynein_heavy; Dynein heavy chain and region D6 of dynein motor

pfam08385
Location:1 → 473

DHC_N1; Dynein heavy chain, N-terminal region 1

pfam08393
Location:1080 → 1478

DHC_N2; Dynein heavy chain, N-terminal region 2

cl25937
Location:1314 → 3956

MT; Microtubule-binding stalk of dynein motor
XM_017009185.1 → XP_016864674.1 dynein axonemal heavy chain 5 isoform X9
XM_017009186.2 → XP_016864675.1 dynein axonemal heavy chain 5 isoform X10
XM_017009188.2 → XP_016864677.1 dynein axonemal heavy chain 5 isoform X12
XM_017009180.2 → XP_016864669.1 dynein axonemal heavy chain 5 isoform X5

UniProtKB/TrEMBL

A0A7P0Z455
XM_017009181.2 → XP_016864670.1 dynein axonemal heavy chain 5 isoform X6

UniProtKB/TrEMBL

A0A7P0Z455
XM_017009182.2 → XP_016864671.1 dynein axonemal heavy chain 5 isoform X7

UniProtKB/TrEMBL

A0A7P0Z455
XM_017009184.2 → XP_016864673.1 dynein axonemal heavy chain 5 isoform X8
XM_017009187.2 → XP_016864676.1 dynein axonemal heavy chain 5 isoform X11