DNAH1 dynein axonemal heavy chain 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: DNAH1provided by HGNC
Official Full Name: dynein axonemal heavy chain 1provided by HGNC
Primary source: HGNC:HGNC:2940
See related: Ensembl:ENSG00000114841 MIM:603332; AllianceGenome:HGNC:2940
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: HL11; HDHC7; HL-11; CILD37; DNAHC1; HSRF-1; SPGF18; XLHSRF-1
Summary: This gene encodes an inner dynein arm heavy chain that provides structural support between the radial spokes and the outer doublet of the sperm tail. Naturally occurring mutations in this gene are associated with primary ciliary dyskinesia and multiple morphological anomalies of the flagella that result in asthenozoospermia and male infertility. Mice with a homozygous knockout of the orthologous gene are viable but have reduced sperm motility and are infertile. [provided by RefSeq, Feb 2017]
Expression: Broad expression in testis (RPKM 4.1), bone marrow (RPKM 2.9) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 3p21.1

Exon count:: 80

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	3	NC_000003.12 (52310920..52400492)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	3	NC_060927.1 (52349219..52433474)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	3	NC_000003.11 (52350335..52434508)

Chromosome 3 - NC_000003.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Novel biallelic variants in DNAH1 cause multiple morphological abnormalities of sperm flagella with favorable outcomes of fertility after ICSI in Han Chinese males.
Title: Novel biallelic variants in DNAH1 cause multiple morphological abnormalities of sperm flagella with favorable outcomes of fertility after ICSI in Han Chinese males.
Novel axonemal protein ZMYND12 interacts with TTC29 and DNAH1, and is required for male fertility and flagellum function.
Title: Novel axonemal protein ZMYND12 interacts with TTC29 and DNAH1, and is required for male fertility and flagellum function.
Novel compound heterozygous mutations in DNAH1 cause primary infertility in Han Chinese males with multiple morphological abnormalities of the sperm flagella.
Title: Novel compound heterozygous mutations in DNAH1 cause primary infertility in Han Chinese males with multiple morphological abnormalities of the sperm flagella.
Novel Loss-of-Function Mutations in DNAH1 Displayed Different Phenotypic Spectrum in Humans and Mice.
Title: Novel Loss-of-Function Mutations in DNAH1 Displayed Different Phenotypic Spectrum in Humans and Mice.
Mutational landscape of DNAH1 in Chinese patients with multiple morphological abnormalities of the sperm flagella: cohort study and literature review.
Title: Mutational landscape of DNAH1 in Chinese patients with multiple morphological abnormalities of the sperm flagella: cohort study and literature review.
Novel Biallelic DNAH1 Variations Cause Multiple Morphological Abnormalities of the Sperm Flagella.
Title: Novel Biallelic DNAH1 Variations Cause Multiple Morphological Abnormalities of the Sperm Flagella.
Patients with severe asthenoteratospermia carrying SPAG6 or RSPH3 mutations have a positive pregnancy outcome following intracytoplasmic sperm injection.
Title: Patients with severe asthenoteratospermia carrying SPAG6 or RSPH3 mutations have a positive pregnancy outcome following intracytoplasmic sperm injection.
DNAH1 variations were identified in 6 of 287 patients, including 8 heterozygous variations in exons and a splicing site. 4 variations (g.52400764G>C, g.52409336C>T, g.52430999_52431000del, g.52412624C>A) had already been registered in the 1000 Genomes and Exome Aggregation Consortium databases. The other novel variations (g.52418050del, g.52404762T>G, g.52430536del, g.52412620del) were all predicted to be pathogenic.
Title: Associations between DNAH1 gene polymorphisms and male infertility: A retrospective study.
Pedigree analysis supported the notion that the combination of DNAH1 gene mutations 52430998CCT>C and 52409336C>T and 52428484G>T alone were associated with MMAF. CONCLUSION(S): These DNAH1 gene mutations may be associated with DFS and infertility in the Han population.
Title: DNAH1 gene mutations and their potential association with dysplasia of the sperm fibrous sheath and infertility in the Han Chinese population.
This mutation was distinct from previously reported DNAH1 mutations associated with MMAF and only affected the East Asian group. Furthermore, the variant DNAH1 protein could not be detected in spermatozoa by Western blot or immunofluorescence staining although DNAH1 mRNA was expressed in the spermatozoa.
Title: Homozygous DNAH1 frameshift mutation causes multiple morphological anomalies of the sperm flagella in Chinese.

Submit: New GeneRIF Correction See all GeneRIFs (15)

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
Ciliary dyskinesia, primary, 37 MedGen: C4539798 OMIM: 617577 GeneReviews: Not available	Compare labs
Spermatogenic failure 18 MedGen: C4539783 OMIM: 617576 GeneReviews: Not available	Compare labs

EBI GWAS Catalog

Description
Genome-wide association analysis identifies 13 new risk loci for schizophrenia. EBI GWAS Catalog EBI GWAS CatalogPubMed
Large-scale genome-wide association analysis of bipolar disorder identifies a new susceptibility locus near ODZ4. 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

RH67921 (e-PCR)
- UniSTS:15919

RH104046 (e-PCR)
- UniSTS:98371

RH91473 (e-PCR)
- UniSTS:89432

D3S3648 (e-PCR), detects polymorphism
- UniSTS:46962

D3S3975 (e-PCR)
- UniSTS:8864

G27739 (e-PCR)
- UniSTS:14312

SHGC-150990 (e-PCR)
- UniSTS:173288

RH65657 (e-PCR)
- UniSTS:2809

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables ATP binding	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 microtubule motor activity	NAS Non-traceable Author Statement more info	PubMed
enables minus-end-directed microtubule motor activity	IBA Inferred from Biological aspect of Ancestor more info

Process	Evidence Code	Pubs
involved_in cilium-dependent cell motility	NAS Non-traceable Author Statement more info	PubMed
involved_in epithelial cilium movement involved in extracellular fluid movement	IEA Inferred from Electronic Annotation more info
involved_in flagellated sperm motility	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within flagellated sperm motility	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in flagellated sperm motility	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within inner dynein arm assembly	IDA Inferred from Direct Assay more info	PubMed
involved_in sperm axoneme assembly	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
part_of axonemal dynein complex	NAS Non-traceable Author Statement more info	PubMed
located_in axoneme	IMP Inferred from Mutant Phenotype more info	PubMed
located_in extracellular region	IEA Inferred from Electronic Annotation more info
part_of inner dynein arm	IBA Inferred from Biological aspect of Ancestor more info
part_of inner dynein arm	IDA Inferred from Direct Assay more info	PubMed
located_in microtubule	IEA Inferred from Electronic Annotation more info
is_active_in sperm flagellum	IBA Inferred from Biological aspect of Ancestor more info
located_in sperm flagellum	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: dynein axonemal heavy chain 1

Names: axonemal beta dynein heavy chain 1; ciliary dynein heavy chain 1; dynein heavy chain 1, axonemal; dynein, axonemal, heavy polypeptide 1; heat shock regulated protein 1; testicular tissue protein Li 60

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_052911.1 RefSeqGene

Range

5001..89174

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_015512.5 → NP_056327.4 dynein axonemal heavy chain 1

Status: REVIEWED

Source sequence(s)

AB037831, AW016677, DN831799

Consensus CDS

CCDS46842.1

UniProtKB/Swiss-Prot

B0I1R6, O00436, O15435, O95491, Q6ZU48, Q86YK7, Q8TEJ4, Q92863, Q9H8E6, Q9P2D7, Q9UFW6, Q9Y4Z7

UniProtKB/TrEMBL

A0A140VJI6

Related

ENSP00000401514.2, ENST00000420323.7

Conserved Domains (4) summary

COG5245
Location:1252 → 3898

DYN1; Dynein, heavy chain [Cytoskeleton]

pfam08393
Location:1013 → 1416

DHC_N2; Dynein heavy chain, N-terminal region 2

pfam12774
Location:1543 → 1869

AAA_6; Hydrolytic ATP binding site of dynein motor region D1

pfam18199
Location:3959 → 4261

Dynein_C; Dynein heavy chain C-terminal domain

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000003.12 Reference GRCh38.p14 Primary Assembly

Range

52310920..52400492

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_017006129.2 → XP_016861618.1 dynein axonemal heavy chain 1 isoform X1

Conserved Domains (5) summary

pfam03028
Location:3583 → 4276

Dynein_heavy; Dynein heavy chain and region D6 of dynein motor

pfam08393
Location:1016 → 1417

DHC_N2; Dynein heavy chain, N-terminal region 2

pfam12777
Location:2854 → 3203

MT; Microtubule-binding stalk of dynein motor

pfam12781
Location:3229 → 3444

AAA_9; ATP-binding dynein motor region D5

cl21455
Location:1543 → 1773

P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases
XM_017006131.2 → XP_016861620.1 dynein axonemal heavy chain 1 isoform X3
XM_017006130.2 → XP_016861619.1 dynein axonemal heavy chain 1 isoform X2

UniProtKB/Swiss-Prot

B0I1R6, O00436, O15435, O95491, Q6ZU48, Q86YK7, Q8TEJ4, Q92863, Q9H8E6, Q9P2D7, Q9UFW6, Q9Y4Z7

UniProtKB/TrEMBL

A0A140VJI6

Conserved Domains (4) summary

COG5245
Location:1252 → 3898

DYN1; Dynein, heavy chain [Cytoskeleton]

pfam08393
Location:1013 → 1416

DHC_N2; Dynein heavy chain, N-terminal region 2

pfam12774
Location:1543 → 1869

AAA_6; Hydrolytic ATP binding site of dynein motor region D1

pfam18199
Location:3959 → 4261

Dynein_C; Dynein heavy chain C-terminal domain