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Aliases for DNAH1 Gene

Aliases for DNAH1 Gene

  • Dynein Axonemal Heavy Chain 1 2 3
  • Dynein, Axonemal, Heavy Polypeptide 1 2 3
  • Axonemal Beta Dynein Heavy Chain 1 3 4
  • Dynein, Axonemal, Heavy Chain 1 3 5
  • 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
  • DNAH1 Variant Protein 3
  • EC 1.1.1.205 63
  • EC 2.5.1.8 63
  • XLHSRF-1 3
  • KIAA1410 4
  • 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

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 and ciliary dyskinesia, primary, 1, with or without situs inversus. 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 DNAH8.

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

Enhancers for DNAH1 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around DNAH1 on UCSC Golden Path with GeneCards custom track

Promoters for DNAH1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around DNAH1 on UCSC Golden Path with GeneCards custom track

Genomic Location for DNAH1 Gene

Chromosome:
3
Start:
52,316,319 bp from pter
End:
52,400,497 bp from pter
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

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 & Families for DNAH1 Gene

Gene Families for DNAH1 Gene

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

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

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

No data available for Gene Ontology (GO) - Molecular Function , 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.

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 IEA,NAS 9373155
GO:0030286 dynein complex IEA,NAS 8812413
GO:0036126 sperm flagellum IEA,IDA 11371505
genes like me logo Genes that share ontologies with DNAH1: view

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

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:0003351 epithelial cilium movement IEA --
GO:0007018 microtubule-based movement IEA --
GO:0009612 response to mechanical stimulus NAS 8812413
GO:0060294 cilium movement involved in cell motility IEA --
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

(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

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, 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 expression patterns with DNAH1: view

Primer Products

In Situ Assay 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
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 16
Dnah1 36
  • 89 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia DNAH1 35
  • 99.34 (n)
  • 99.18 (a)
DNAH1 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Dnah1 35
  • 86.54 (n)
  • 89.68 (a)
oppossum
(Monodelphis domestica)
Mammalia DNAH1 36
  • 82 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 51 (a)
ManyToMany
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

(17) 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
rs10460963 - 52,326,768(+) ATTGA(G/T)CAGTT reference, missense
rs13060192 - 52,344,524(+) GAGAA(C/G)TGAGC reference, missense
rs17052095 - 52,360,012(+) AGGAC(A/G)TGGTG reference, missense
rs17052097 - 52,362,394(+) TGGAA(A/C/T)GCTTC reference, missense
rs56002041 - 52,375,405(+) GGGCA(A/G)CTGGT reference, missense

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

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)

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

(5) MalaCards diseases for DNAH1 Gene - From: ClinVar, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
non-syndromic male infertility due to sperm motility disorder
  • non-syndromic male infertility due asthenozoospermia
ciliary dyskinesia, primary, 1, with or without situs inversus
  • kartagener syndrome
kartagener syndrome
  • kartagener's syndrome
primary ciliary dyskinesia
  • kartagener syndrome
bronchiectasis
  • kartagener syndrome
- elite association - COSMIC cancer census association via MalaCards
Search DNAH1 in MalaCards View complete list of genes associated with diseases

Relevant External Links for DNAH1

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
DNAH1
genes like me logo Genes that share disorders with DNAH1: view

No data available for UniProtKB/Swiss-Prot and 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 Lett. 1997) 2 3 4 67
  2. Disruption of an inner arm dynein heavy chain gene results in asthenozoospermia and reduced ciliary beat frequency. (PMID: 11371505) Neesen J. … Engel W. (Hum. Mol. Genet. 2001) 3 23
  3. Multiple mouse chromosomal loci for dynein-based motility. (PMID: 8812413) Vaughan K.T. … Vallee R.B. (Genomics 1996) 2 3
  4. Variation in DNAH1 may contribute to primary ciliary dyskinesia. (PMID: 25927852) Imtiaz F. … Al-Sayed M. (BMC Med. Genet. 2015) 3
  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 P.F. (Am. J. Hum. Genet. 2014) 3

Products for DNAH1 Gene

Sources for DNAH1 Gene

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