Free for academic non-profit institutions. Other users need a Commercial license

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
  • 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
  • Dynein Heavy Chain 1, Axonemal 3
  • 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 DNAH7.

UniProtKB/Swiss-Prot 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 , fRNAdb sequence ontologies 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 2.5 EPDnew Ensembl ENCODE dbSUPER 650.3 -33.5 -33464 17.3 MLX DMAP1 YY1 SLC30A9 E2F8 ZNF143 SP3 SSRP1 ZNF610 GLIS1 GLYCTK WDR82 DNAH1 PBRM1 LOC101929054 PPM1M TWF2 ITIH4 RRP9 RFT1
GH03J052317 Enhancer 0.8 Ensembl ENCODE 650.7 +1.5 1489 1.2 ZNF687 RFX1 BACH1 SIN3A MNT ZBTB40 GABPA CTBP1 POLR2A GABPB1 DNAH1 LOC101929054 PPP2R5CP
GH03J052304 Promoter 0.5 EPDnew 650.4 -12.1 -12115 0.1 DNAH1 GLYCTK-AS1
GH03J052339 Enhancer 1.1 Ensembl ENCODE 12.4 +23.5 23482 0.4 HDGF FOXA2 ARNT ARID4B SIN3A FEZF1 DMAP1 YBX1 ZNF2 IRF4 DNAH1 GLYCTK-AS1 MIR135A1 WDR82 GLYCTK LOC101929054 TWF2 ENSG00000173366 TLR9 PPM1M
GH03J052243 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 1.8 -70.4 -70433 4.9 HDGF PKNOX1 SIN3A IRF4 ZNF48 YY1 GLIS2 ZNF143 ATF7 FOS PPM1M PBRM1 LOC101929054 GLYCTK IQCF2 IQCF5 PHF7 IQCF6 IQCF1 WDR82
- 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

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

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:
    4330 amino acids
    Molecular mass:
    493953 Da
    Quaternary structure:
    • Consists of at least two heavy chains and a number of intermediate and light chains.
    SequenceCaution:
    • Sequence=BAA92648.3; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305}; Sequence=BAB14671.1; Type=Frameshift; Positions=4190; Evidence={ECO:0000305}; Sequence=BAB84956.2; Type=Miscellaneous discrepancy; Note=Wrong choice of CDS.; Evidence={ECO:0000305}; Sequence=CAB06058.1; Type=Frameshift; Positions=1595; Evidence={ECO:0000305};

    Alternative splice isoforms for DNAH1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for DNAH1 Gene

Post-translational modifications for DNAH1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for DNAH1 Gene

No data available for DME Specific Peptides for DNAH1 Gene

Domains & Families for DNAH1 Gene

Gene Families for DNAH1 Gene

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

Suggested Antigen Peptide Sequences for DNAH1 Gene

GenScript: Design optimal peptide antigens:

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

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 --
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:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

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

Clone Products

No data available for Enzyme Numbers (IUBMB) , 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
nucleus 2
cytosol 2

Gene Ontology (GO) - Cellular Components for DNAH1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005856 cytoskeleton IEA --
GO:0005858 axonemal dynein complex IEA,NAS 9373155
GO:0005874 microtubule IEA --
GO:0005929 cilium 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 IEA,IBA --
GO:0003351 epithelial cilium movement IEA --
GO:0007018 microtubule-based movement IBA,IEA --
GO:0007288 sperm axoneme assembly IMP 24360805
GO:0030317 flagellated sperm motility IMP 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

(6) REFSEQ mRNAs :
(13) Additional mRNA sequences :
(8) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for DNAH1 Gene

Dynein, axonemal, heavy chain 1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

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

Clone Products

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
ECgene alternative splicing isoforms for
DNAH1

Expression for DNAH1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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



NURSA nuclear receptor signaling pathways regulating expression of DNAH1 Gene:

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 34 33
  • 99.34 (n)
OneToOne
cow
(Bos Taurus)
Mammalia DNAH1 34 33
  • 88.8 (n)
OneToOne
dog
(Canis familiaris)
Mammalia DNAH1 34 33
  • 88.79 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Dnah1 16 34 33
  • 86.63 (n)
rat
(Rattus norvegicus)
Mammalia Dnah1 33
  • 86.54 (n)
oppossum
(Monodelphis domestica)
Mammalia DNAH1 34
  • 82 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 51 (a)
ManyToMany
chicken
(Gallus gallus)
Aves DNAH1 34 33
  • 72.63 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia DNAH1 34
  • 81 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia dnah1 33
  • 69.16 (n)
zebrafish
(Danio rerio)
Actinopterygii dnah1 34 33
  • 71.22 (n)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta Dhc62B 34
  • 36 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 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

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 from dbSNP and Humsavar for DNAH1 Gene

SNP ID Clin Chr 03 pos Variation AA Info Type
rs112505934 likely-benign, CILIARY DYSKINESIA, PRIMARY, 37, SPERMATOGENIC FAILURE 18 52,372,236(+) A/C/G coding_sequence_variant, missense_variant, non_coding_transcript_variant
rs113529103 benign, CILIARY DYSKINESIA, PRIMARY, 37, SPERMATOGENIC FAILURE 18 52,382,362(+) C/T coding_sequence_variant, non_coding_transcript_variant, synonymous_variant
rs113617561 likely-benign, CILIARY DYSKINESIA, PRIMARY, 37, SPERMATOGENIC FAILURE 18 52,371,978(+) T/C/G coding_sequence_variant, non_coding_transcript_variant, synonymous_variant
rs114066123 benign, CILIARY DYSKINESIA, PRIMARY, 37, SPERMATOGENIC FAILURE 18 52,353,276(+) C/G/T coding_sequence_variant, missense_variant, non_coding_transcript_variant, synonymous_variant
rs115818632 benign, CILIARY DYSKINESIA, PRIMARY, 37, SPERMATOGENIC FAILURE 18 52,366,819(+) C/T coding_sequence_variant, non_coding_transcript_variant, synonymous_variant

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

(7) MalaCards diseases for DNAH1 Gene - From: HGMD, OMIM, ClinVar, Orphanet, Swiss-Prot, 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
  • cild1
- 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}. 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 58
  2. Multiple mouse chromosomal loci for dynein-based motility. (PMID: 8812413) Vaughan KT … Vallee RB (Genomics 1996) 2 3 4 58
  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 58
  4. Variation in DNAH1 may contribute to primary ciliary dyskinesia. (PMID: 25927852) Imtiaz F … Al-Sayed M (BMC medical genetics 2015) 3 4 58
  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 58

Products for DNAH1 Gene

Sources for DNAH1 Gene

Content
Loading form....