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 ... See more...

Aliases for DNAH1 Gene

Aliases for DNAH1 Gene

  • Dynein Axonemal Heavy Chain 1 2 3 5
  • Dynein, Axonemal, Heavy Polypeptide 1 2 3
  • Axonemal Beta Dynein Heavy Chain 1 3 4
  • Dynein Heavy Chain 1, Axonemal 3 4
  • Heat Shock Regulated Protein 1 3 4
  • Ciliary Dynein Heavy Chain 1 3 4
  • DNAHC1 3 4
  • HSRF-1 3 4
  • HDHC7 3 4
  • Testicular Tissue Protein Li 60 3
  • EC 1.1.1.205 52
  • EC 2.5.1.8 52
  • XLHSRF-1 3
  • KIAA1410 4
  • CILD37 3
  • SPGF18 3
  • HL-11 3
  • HL11 3
  • DHC7 4

External Ids for DNAH1 Gene

Previous GeneCards Identifiers for DNAH1 Gene

  • GC03U990024
  • GC03P052244
  • GC07P021439
  • GC07P021384
  • GC03P052325

Summaries for DNAH1 Gene

Entrez Gene Summary for DNAH1 Gene

  • 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]

GeneCards Summary for DNAH1 Gene

DNAH1 (Dynein Axonemal Heavy Chain 1) is a Protein Coding gene. Diseases associated with DNAH1 include Ciliary Dyskinesia, Primary, 37 and Spermatogenic Failure 18. Among its related pathways are Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.. Gene Ontology (GO) annotations related to this gene include ATPase activity and microtubule motor activity. An important paralog of this gene is DNAH3.

UniProtKB/Swiss-Prot Summary for DNAH1 Gene

  • Force generating protein of cilia required for sperm flagellum motility. Produces force towards the minus ends of microtubules. Dynein has ATPase activity; the force-producing power stroke is thought to occur on release of ADP. Required in spermatozoa for the formation of the inner dynein arms and biogenesis of the axoneme (PubMed:24360805).

Additional gene information for DNAH1 Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for DNAH1 Gene

Genomics for DNAH1 Gene

GeneHancer (GH) Regulatory Elements for DNAH1 Gene

Promoters and enhancers for DNAH1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH03J052274 Promoter/Enhancer 2.4 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 500.3 -33.5 -33464 17.3 ZBTB40 ZNF217 EP300 CTCF SIN3A NRF1 POLR2G NCOR1 GTF2E2 PHF8 GLYCTK WDR82 DNAH1 PBRM1 LOC101929054 PPM1M TWF2 ITIH4 RFT1 ABHD14B
GH03J052317 Promoter/Enhancer 1.3 Ensembl ENCODE CraniofacialAtlas 500.7 +1.4 1388 1.4 ZFX GABPA CTBP1 POLR2A MYC PHF8 SIN3A ZBTB40 GABPB1 TCF7L2 DNAH1 LOC101929054 NONHSAG035166.2
GH03J052304 Promoter/Enhancer 0.9 EPDnew Ensembl CraniofacialAtlas 500.4 -12.8 -12826 2.2 SMARCA4 ZBTB33 EZH2 MTA2 lnc-DNAH1-1 DNAH1 PPM1M LOC101929054 GLYCTK-AS1
GH03J052339 Enhancer 1 Ensembl ENCODE 12.5 +24.5 24482 2.8 ZNF217 CTCF MYC USF1 CLOCK FOXA1 AFF1 REST TOE1 RAD21 DNAH1 GLYCTK-AS1 MIR135A1 GLYCTK WDR82 PPM1M TWF2 LOC101929054 ENSG00000173366 TLR9
GH03J052243 Promoter/Enhancer 2.4 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 1.8 -70.5 -70452 4.9 POLR2G SP1 TEAD4 ZFX EP300 ZIC2 ZBTB26 RELA TGIF2 POLR2A PPM1M ITIH4 PBRM1 LOC101929054 GLYCTK IQCF2 IQCF5 PHF7 IQCF6 IQCF1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around DNAH1 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for DNAH1

Top Transcription factor binding sites by QIAGEN in the DNAH1 gene promoter:
  • AREB6
  • E47
  • Elk-1
  • ER-alpha
  • Ik-2
  • Pax-4a
  • SREBP-1a
  • SREBP-1b
  • SREBP-1c
  • Tal-1beta

Genomic Locations for DNAH1 Gene

Genomic Locations for DNAH1 Gene
chr3:52,316,319-52,400,497
(GRCh38/hg38)
Size:
84,179 bases
Orientation:
Plus strand
chr3:52,350,335-52,434,513
(GRCh37/hg19)
Size:
84,179 bases
Orientation:
Plus strand

Genomic View for DNAH1 Gene

Genes around DNAH1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
DNAH1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for DNAH1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DNAH1 Gene

Proteins for DNAH1 Gene

  • Protein details for DNAH1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9P2D7-DYH1_HUMAN
    Recommended name:
    Dynein heavy chain 1, axonemal
    Protein Accession:
    Q9P2D7
    Secondary Accessions:
    • B0I1R6
    • O00436
    • O15435
    • O95491
    • Q6ZU48
    • Q86YK7
    • Q8TEJ4
    • Q92863
    • Q9H8E6
    • Q9UFW6
    • Q9Y4Z7

    Protein attributes for DNAH1 Gene

    Size:
    4265 amino acids
    Molecular mass:
    487478 Da
    Quaternary structure:
    • Consists of at least two heavy chains and a number of intermediate and light chains.
    SequenceCaution:
    • Sequence=AAO43053.1; Type=Frameshift; Evidence={ECO:0000305}; Sequence=BAA92648.3; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305}; Sequence=BAB14671.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=BAB14671.1; Type=Frameshift; Evidence={ECO:0000305}; Sequence=BAB84956.2; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305}; Sequence=BAG06717.1; Type=Frameshift; Evidence={ECO:0000305}; Sequence=CAB06058.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305}; Sequence=CAB06058.1; Type=Frameshift; Evidence={ECO:0000305};

    Alternative splice isoforms for DNAH1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for DNAH1 Gene

Selected DME Specific Peptides for DNAH1 Gene

Q9P2D7:
  • GPTGTGK
  • EVRRVKK

Post-translational modifications for DNAH1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for DNAH1 Gene

Domains & Families for DNAH1 Gene

Gene Families for DNAH1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins

Protein Domains for DNAH1 Gene

Suggested Antigen Peptide Sequences for DNAH1 Gene

GenScript: Design optimal peptide antigens:
  • hDHC7 (DYH1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9P2D7

UniProtKB/Swiss-Prot:

DYH1_HUMAN :
  • Dynein heavy chains probably consist of an N-terminal stem (which binds cargo and interacts with other dynein components), and the head or motor domain. The motor contains six tandemly-linked AAA domains in the head, which form a ring. A stalk-like structure (formed by two of the coiled coil domains) protrudes between AAA 4 and AAA 5 and terminates in a microtubule-binding site. A seventh domain may also contribute to this ring; it is not clear whether the N-terminus or the C-terminus forms this extra domain. There are four well-conserved and two non-conserved ATPase sites, one per AAA domain. Probably only one of these (within AAA 1) actually hydrolyzes ATP, the others may serve a regulatory function (By similarity).
  • Belongs to the dynein heavy chain family.
Domain:
  • Dynein heavy chains probably consist of an N-terminal stem (which binds cargo and interacts with other dynein components), and the head or motor domain. The motor contains six tandemly-linked AAA domains in the head, which form a ring. A stalk-like structure (formed by two of the coiled coil domains) protrudes between AAA 4 and AAA 5 and terminates in a microtubule-binding site. A seventh domain may also contribute to this ring; it is not clear whether the N-terminus or the C-terminus forms this extra domain. There are four well-conserved and two non-conserved ATPase sites, one per AAA domain. Probably only one of these (within AAA 1) actually hydrolyzes ATP, the others may serve a regulatory function (By similarity).
Family:
  • Belongs to the dynein heavy chain family.
genes like me logo Genes that share domains with DNAH1: view

Function for DNAH1 Gene

Molecular function for DNAH1 Gene

UniProtKB/Swiss-Prot Function:
Force generating protein of cilia required for sperm flagellum motility. Produces force towards the minus ends of microtubules. Dynein has ATPase activity; the force-producing power stroke is thought to occur on release of ADP. Required in spermatozoa for the formation of the inner dynein arms and biogenesis of the axoneme (PubMed:24360805).
GENATLAS Biochemistry:
dynein,axonemal,motor protein interacting with microtubules,heavy chain 1,inner arm,expressed in testis,involved in intracellular movement of organelles and vesicles or in the orientation of the mitotic spindle apparatus,with ATPase activity

Enzyme Numbers (IUBMB) for DNAH1 Gene

Phenotypes From GWAS Catalog for DNAH1 Gene

Gene Ontology (GO) - Molecular Function for DNAH1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003774 motor activity IEA --
GO:0003777 microtubule motor activity IEA,NAS 9373155
GO:0005524 ATP binding IEA --
GO:0008569 ATP-dependent microtubule motor activity, minus-end-directed IBA 21873635
GO:0016887 ATPase activity IEA --
genes like me logo Genes that share ontologies with DNAH1: view
genes like me logo Genes that share phenotypes with DNAH1: view

Human Phenotype Ontology for DNAH1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for DNAH1 Gene

MGI Knock Outs for DNAH1:
  • Dnah1 Dnah1<tm1Ihgg>
  • Dnah1 Dnah1<tm1b(EUCOMM)Hmgu>

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for DNAH1

No data available for miRNA , Transcription Factor Targets and HOMER Transcription for DNAH1 Gene

Localization for DNAH1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for DNAH1 Gene

Cytoplasm, cytoskeleton, cilium axoneme. Cell projection, cilium, flagellum.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for DNAH1 gene
Compartment Confidence
cytoskeleton 5
extracellular 2
nucleus 2
cytosol 2
mitochondrion 1

Gene Ontology (GO) - Cellular Components for DNAH1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA --
GO:0005737 cytoplasm IEA --
GO:0005856 cytoskeleton IEA --
GO:0005858 axonemal dynein complex NAS,IEA 9373155
GO:0005874 microtubule IEA --
genes like me logo Genes that share ontologies with DNAH1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for DNAH1 Gene

Pathways & Interactions for DNAH1 Gene

genes like me logo Genes that share pathways with DNAH1: view

Pathways by source for DNAH1 Gene

1 KEGG pathway for DNAH1 Gene

Gene Ontology (GO) - Biological Process for DNAH1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003341 cilium movement IBA,IEA 21873635
GO:0003351 epithelial cilium movement IEA --
GO:0007018 microtubule-based movement IBA,IEA 21873635
GO:0007288 sperm axoneme assembly IMP 24360805
GO:0030317 flagellated sperm motility IMP,IBA 24360805
genes like me logo Genes that share ontologies with DNAH1: view

No data available for SIGNOR curated interactions for DNAH1 Gene

Drugs & Compounds for DNAH1 Gene

No Compound Related Data Available

Transcripts for DNAH1 Gene

mRNA/cDNA for DNAH1 Gene

1 REFSEQ mRNAs :
13 NCBI additional mRNA sequence :
8 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for DNAH1

Alternative Splicing Database (ASD) splice patterns (SP) for DNAH1 Gene

ExUns: 1 ^ 2 ^ 3a · 3b ^ 4a · 4b ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11a · 11b ^ 12 ^ 13 ^ 14 ^ 15 ^ 16a · 16b ^ 17 ^ 18 ^ 19 ^ 20 ^ 21 ^ 22a ·
SP1: - - -
SP2:
SP3:
SP4: -
SP5:
SP6:
SP7:
SP8:
SP9: -
SP10:
SP11:
SP12:
SP13:

ExUns: 22b ^ 23 ^ 24 ^ 25 ^ 26 ^ 27 ^ 28 ^ 29 ^ 30 ^ 31 ^ 32 ^ 33 ^ 34 ^ 35 ^ 36 ^ 37 ^ 38 ^ 39 ^ 40 ^ 41 ^ 42 ^ 43 ^ 44 ^ 45 ^ 46a · 46b ^
SP1: -
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:

ExUns: 47 ^ 48 ^ 49 ^ 50 ^ 51 ^ 52 ^ 53 ^ 54 ^ 55a · 55b ^ 56 ^ 57 ^ 58 ^ 59 ^ 60a · 60b ^ 61a · 61b ^ 62 ^ 63a · 63b ^ 64a · 64b ^ 65 ^ 66a · 66b ^
SP1: -
SP2: -
SP3: -
SP4:
SP5: -
SP6: - -
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:

ExUns: 67a · 67b ^ 68 ^ 69a · 69b ^ 70 ^ 71 ^ 72a · 72b ^ 73 ^ 74a · 74b ^ 75 ^ 76 ^ 77a · 77b ^ 78 ^ 79a · 79b · 79c ^ 80a · 80b · 80c ^
SP1: - -
SP2: - - -
SP3: - - -
SP4:
SP5:
SP6:
SP7:
SP8: -
SP9:
SP10:
SP11:
SP12:
SP13: -

Relevant External Links for DNAH1 Gene

GeneLoc Exon Structure for
DNAH1

Expression for DNAH1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for DNAH1 Gene

Protein differential expression in normal tissues from HIPED for DNAH1 Gene

This gene is overexpressed in Bone (29.3), Esophagus (9.5), Frontal cortex (9.1), and Fetal gut (7.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for DNAH1 Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for DNAH1

SOURCE GeneReport for Unigene cluster for DNAH1 Gene:

Hs.655469

mRNA Expression by UniProt/SwissProt for DNAH1 Gene:

Q9P2D7-DYH1_HUMAN
Tissue specificity: Expressed primarily in trachea and testis, 2 tissues containing axonemal structures. Also expressed in brain (PubMed:11175280).

Evidence on tissue expression from TISSUES for DNAH1 Gene

  • Lung(4.2)
  • Spleen(4.1)
  • Nervous system(4.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for DNAH1 Gene

Germ Layers:
  • mesoderm
Systems:
  • reproductive
Regions:
Pelvis:
  • ovary
  • testicle
genes like me logo Genes that share expression patterns with DNAH1: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Protein tissue co-expression partners for DNAH1 Gene

Orthologs for DNAH1 Gene

This gene was present in the common ancestor of animals.

Orthologs for DNAH1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia DNAH1 31 30
  • 99.34 (n)
OneToOne
cow
(Bos Taurus)
Mammalia DNAH1 31 30
  • 88.8 (n)
OneToOne
dog
(Canis familiaris)
Mammalia DNAH1 31 30
  • 88.79 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Dnah1 17 31 30
  • 86.63 (n)
rat
(Rattus norvegicus)
Mammalia Dnah1 30
  • 86.54 (n)
oppossum
(Monodelphis domestica)
Mammalia DNAH1 31
  • 82 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 51 (a)
ManyToMany
chicken
(Gallus gallus)
Aves DNAH1 31 30
  • 72.63 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia DNAH1 31
  • 81 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia dnah1 30
  • 69.16 (n)
zebrafish
(Danio rerio)
Actinopterygii dnah1 31 30
  • 71.22 (n)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta Dhc62B 31
  • 36 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 45 (a)
ManyToMany
Species where no ortholog for DNAH1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for DNAH1 Gene

ENSEMBL:
Gene Tree for DNAH1 (if available)
TreeFam:
Gene Tree for DNAH1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for DNAH1: view image

Paralogs for DNAH1 Gene

(17) SIMAP similar genes for DNAH1 Gene using alignment to 3 proteins:

  • DYH1_HUMAN
  • H7C506_HUMAN
  • H7C563_HUMAN
genes like me logo Genes that share paralogs with DNAH1: view

Variants for DNAH1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for DNAH1 Gene

SNP ID Clinical significance and condition Chr 03 pos Variation AA Info Type
639629 Uncertain Significance: SPERMATOGENIC FAILURE 18; Ciliary dyskinesia, primary, 37 52,398,988(+) T/A MISSENSE_VARIANT
639724 Uncertain Significance: SPERMATOGENIC FAILURE 18; Ciliary dyskinesia, primary, 37 52,392,562(+) G/A MISSENSE_VARIANT
639993 Uncertain Significance: SPERMATOGENIC FAILURE 18; Ciliary dyskinesia, primary, 37 52,353,589(+) A/T MISSENSE_VARIANT
641048 Uncertain Significance: SPERMATOGENIC FAILURE 18; Ciliary dyskinesia, primary, 37 52,350,017(+) G/A MISSENSE_VARIANT
641085 Uncertain Significance: SPERMATOGENIC FAILURE 18; Ciliary dyskinesia, primary, 37 52,392,481(+) T/G MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for DNAH1 Gene

Structural Variations from Database of Genomic Variants (DGV) for DNAH1 Gene

Variant ID Type Subtype PubMed ID
esv3418861 CNV duplication 20981092
esv3428292 CNV duplication 20981092
nsv3818 CNV insertion 18451855
nsv519445 CNV gain+loss 19592680
nsv590302 CNV loss 21841781
nsv834695 CNV loss 17160897
nsv834696 CNV loss 17160897
nsv834697 CNV loss 17160897
nsv954859 CNV deletion 24416366
nsv979834 CNV duplication 23825009

Variation tolerance for DNAH1 Gene

Residual Variation Intolerance Score: 99.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 12.89; 94.86% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for DNAH1 Gene

Human Gene Mutation Database (HGMD)
DNAH1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
DNAH1

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for DNAH1 Gene

Disorders for DNAH1 Gene

MalaCards: The human disease database

(16) MalaCards diseases for DNAH1 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
ciliary dyskinesia, primary, 37
  • cild37
spermatogenic failure 18
  • spgf18
non-syndromic male infertility due to sperm motility disorder
  • non-syndromic male infertility due asthenozoospermia
kartagener syndrome
  • kartagener's syndrome
ciliary dyskinesia, primary, 1
  • pcd
- elite association - COSMIC cancer census association via MalaCards
Search DNAH1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

DYH1_HUMAN
  • Spermatogenic failure 18 (SPGF18) [MIM:617576]: An infertility disorder caused by spermatogenesis defects and characterized by abnormally shaped spermatozoa in the semen of affected individuals. SPGF18 patients present with primary infertility and multiple morphological abnormalities of sperm flagella that result in impaired sperm mobility. Abnormalities include absent, short, coiled, bent, and irregular flagella. SPGF18 inheritance is autosomal recessive. {ECO:0000269 PubMed:24360805, ECO:0000269 PubMed:27798045, ECO:0000269 PubMed:28552195, ECO:0000269 PubMed:29449551}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Ciliary dyskinesia, primary, 37 (CILD37) [MIM:617577]: A form of primary ciliary dyskinesia, a disorder characterized by abnormalities of motile cilia. Respiratory infections leading to chronic inflammation and bronchiectasis are recurrent, due to defects in the respiratory cilia. Some patients exhibit randomization of left-right body asymmetry and situs inversus. Primary ciliary dyskinesia associated with situs inversus is referred to as Kartagener syndrome. CILD37 inheritance is autosomal recessive. {ECO:0000269 PubMed:25927852}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for DNAH1

genes like me logo Genes that share disorders with DNAH1: view

No data available for Genatlas for DNAH1 Gene

Publications for DNAH1 Gene

  1. Isolation of several human axonemal dynein heavy chain genes: genomic structure of the catalytic site, phylogenetic analysis and chromosomal assignment. (PMID: 9256245) Chapelin C … Amselem S (FEBS letters 1997) 2 3 4 54
  2. Multiple mouse chromosomal loci for dynein-based motility. (PMID: 8812413) Vaughan KT … Vallee RB (Genomics 1996) 2 3 4 54
  3. Whole-exome sequencing of familial cases of multiple morphological abnormalities of the sperm flagella (MMAF) reveals new DNAH1 mutations. (PMID: 27798045) Amiri-Yekta A … Ray PF (Human reproduction (Oxford, England) 2016) 3 4 54
  4. Variation in DNAH1 may contribute to primary ciliary dyskinesia. (PMID: 25927852) Imtiaz F … Al-Sayed M (BMC medical genetics 2015) 3 4 54
  5. Mutations in DNAH1, which encodes an inner arm heavy chain dynein, lead to male infertility from multiple morphological abnormalities of the sperm flagella. (PMID: 24360805) Ben Khelifa M … Ray PF (American journal of human genetics 2014) 3 4 54

Products for DNAH1 Gene

Sources for DNAH1 Gene