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Aliases for DNAH1 Gene

Aliases for DNAH1 Gene

  • Dynein, Axonemal, Heavy Chain 1 2 3
  • DNAHC1 3 4 6
  • HDHC7 3 4 6
  • 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
  • HSRF-1 3 4
  • HL11 3 6
  • Dynein Heavy Chain 1, Axonemal 3
  • DNAH1 Variant Protein 3
  • EC 1.1.1.205 63
  • EC 2.5.1.8 63
  • XLHSRF-1 3
  • KIAA1410 4
  • HL-11 3
  • DHC7 4

External Ids for DNAH1 Gene

Previous GeneCards Identifiers for DNAH1 Gene

  • GC03U990024
  • GC03P052244
  • GC07P021439
  • GC07P021384
  • GC03P052325

Summaries for DNAH1 Gene

GeneCards Summary for DNAH1 Gene

DNAH1 (Dynein, Axonemal, Heavy Chain 1) is a Protein Coding gene. Diseases associated with DNAH1 include non-syndromic male infertility due to sperm motility disorder. Among its related pathways are Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.. GO annotations related to this gene include ATPase activity and microtubule motor activity. An important paralog of this gene is DNAH17.

UniProtKB/Swiss-Prot for DNAH1 Gene

  • Force generating protein of respiratory cilia. 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. Involved in sperm motility; implicated in sperm flagellar assembly (By similarity).

No data available for Entrez Gene Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for DNAH1 Gene

Genomics for DNAH1 Gene

Regulatory Elements for DNAH1 Gene

Genomic Location for DNAH1 Gene

Start:
52,302,896 bp from pter
End:
52,400,497 bp from pter
Size:
97,602 bases
Orientation:
Plus strand

Genomic View for DNAH1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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

Proteomics data for DNAH1 Gene at MOPED

Selected DME Specific Peptides for DNAH1 Gene

Post-translational modifications for DNAH1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for DNAH1 Gene

ENSEMBL proteins:
REFSEQ proteins:

Domains for DNAH1 Gene

Gene Families for DNAH1 Gene

HGNC:
  • DN :Axonemal dyneins

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 :
  • Q9P2D7
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

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
UniProtKB/Swiss-Prot Function: Force generating protein of respiratory cilia. 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. Involved in sperm motility; implicated in sperm flagellar assembly (By similarity).

Enzyme Numbers (IUBMB) for DNAH1 Gene

Gene Ontology (GO) - Molecular Function for DNAH1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003777 microtubule motor activity NAS 9373155
GO:0005524 ATP binding IEA --
GO:0016887 ATPase activity IEA --
genes like me logo Genes that share ontologies with DNAH1: view

Phenotypes for DNAH1 Gene

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

Animal Models for DNAH1 Gene

MGI Knock Outs for DNAH1:

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

Localization for DNAH1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for DNAH1 Gene

Cytoplasm, cytoskeleton, cilium axoneme.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for DNAH1 Gene COMPARTMENTS Subcellular localization image for DNAH1 gene
Compartment Confidence
cytoskeleton 5
cytosol 2
nucleus 2

Gene Ontology (GO) - Cellular Components for DNAH1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005858 axonemal dynein complex NAS 9373155
GO:0005874 microtubule IEA --
GO:0030286 dynein complex NAS 8812413
genes like me logo Genes that share ontologies with DNAH1: view

Pathways 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

Interacting Proteins for DNAH1 Gene

Gene Ontology (GO) - Biological Process for DNAH1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001539 cilium or flagellum-dependent cell motility NAS 9373155
GO:0003341 cilium movement IEA --
GO:0006200 obsolete ATP catabolic process --
GO:0007018 microtubule-based movement --
GO:0008152 metabolic process NAS 9373155
genes like me logo Genes that share ontologies with DNAH1: view

Transcripts for DNAH1 Gene

mRNA/cDNA for DNAH1 Gene

(2) 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:

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 for DNAH1 Gene

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for DNAH1 Gene

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.
genes like me logo Genes that share expressions with DNAH1: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues 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 35
  • 99.34 (n)
  • 99.18 (a)
DNAH1 36
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia DNAH1 35
  • 88.8 (n)
  • 89.52 (a)
DNAH1 36
  • 85 (a)
OneToOne
dog
(Canis familiaris)
Mammalia DNAH1 35
  • 88.79 (n)
  • 90.85 (a)
DNAH1 36
  • 90 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Dnah1 35
  • 86.63 (n)
  • 90.15 (a)
Dnah1 36
  • 89 (a)
OneToOne
Dnahc1 16
oppossum
(Monodelphis domestica)
Mammalia DNAH1 36
  • 82 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 51 (a)
ManyToMany
rat
(Rattus norvegicus)
Mammalia Dnah1 35
  • 86.54 (n)
  • 89.68 (a)
chicken
(Gallus gallus)
Aves DNAH1 35
  • 72.63 (n)
  • 73.57 (a)
DNAH1 36
  • 73 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia DNAH1 36
  • 81 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia dnah1 35
  • 69.16 (n)
  • 74.98 (a)
zebrafish
(Danio rerio)
Actinopterygii dnah1 35
  • 71.22 (n)
  • 76.49 (a)
dnah1 36
  • 76 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta Dhc62B 36
  • 36 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 45 (a)
ManyToMany
Species with no ortholog for DNAH1:
  • 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)

Paralogs for DNAH1 Gene

Selected SIMAP similar genes for DNAH1 Gene using alignment to 3 proteins:

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 Sequence Context AA Info Type MAF
rs123603 -- 52,398,017(+) GTATT(C/T)CTTTG intron-variant
rs365048 - 52,396,682(+) GCGCC(A/G)TAAGT missense, reference
rs365357 -- 52,394,184(+) GTGCC(C/T)GGCAC intron-variant
rs390802 -- 52,397,655(+) TCTGA(A/G)GGCTG intron-variant
rs419050 -- 52,392,868(+) GACAT(C/T)GACCT reference, synonymous-codon

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

Variant ID Type Subtype PubMed ID
nsv519445 CNV Gain+Loss 19592680
nsv834695 CNV Loss 17160897
dgv5136n71 CNV Gain 21882294
nsv876789 CNV Loss 21882294
nsv834696 CNV Loss 17160897
nsv3818 CNV Insertion 18451855
nsv834697 CNV Loss 17160897
dgv5137n71 CNV Loss 21882294

Relevant External Links for DNAH1 Gene

HapMap Linkage Disequilibrium report
DNAH1
Human Gene Mutation Database (HGMD)
DNAH1

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

Disorders for DNAH1 Gene

MalaCards: The human disease database

MalaCards: The human disease database. (1) Diseases for DNAH1 Gene including...

Search for DNAH1 Gene in MalaCards »

(2) University of Copenhagen DISEASES for DNAH1 Gene

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

No data available for UniProtKB/Swiss-Prot for DNAH1 Gene

Publications for DNAH1 Gene

  1. Multiple mouse chromosomal loci for dynein-based motility. (PMID: 8812413) Vaughan K.T. … Vallee R.B. (Genomics 1996) 2 3 4
  2. 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 Lett. 1997) 2 3 4
  3. Identification of dynein heavy chain genes expressed in human and mouse testis: chromosomal localization of an axonemal dynein gene. (PMID: 9373155) Neesen J. … Schmid M. (Gene 1997) 3 4
  4. Prediction of the coding sequences of unidentified human genes. XVI. The complete sequences of 150 new cDNA clones from brain which code for large proteins in vitro. (PMID: 10718198) Nagase T. … Ohara O. (DNA Res. 2000) 3 4
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4

Products for DNAH1 Gene

Sources for DNAH1 Gene

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