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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
  • EC 1.1.1.205 58
  • EC 2.5.1.8 58
  • 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.. GO annotations related to this gene include ATPase activity and microtubule motor activity. An important paralog of this gene is DNAH3.

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).

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

Regulatory Elements for DNAH1 Gene

Enhancers for DNAH1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH03H052339 1.2 Ensembl ENCODE 12.4 +23.5 23482 0 HDGF FOXA2 RB1 ARNT ZSCAN4 ARID4B FEZF1 DMAP1 YBX1 BATF DNAH1 GLYCTK-AS1 MIR135A1 WDR82 GLYCTK TWF2 LOC101929054 ENSG00000173366 TLR9 PPM1M
GH03H052243 1.6 FANTOM5 ENCODE dbSUPER 1.8 -70.4 -70434 4 HDGF PKNOX1 SIN3A YY1 GLIS2 ZNF143 FOS ATF7 RUNX3 SP3 PBRM1 PPM1M LOC101929054 GLYCTK IQCF2 IQCF5 PHF7 IQCF6 IQCF1 WDR82
GH03H052313 1.4 FANTOM5 Ensembl ENCODE 0.7 -2.4 -2377 1 PKNOX1 TBL1XR1 BMI1 BATF RARA FOS ATF7 ETV6 RUNX3 CREM GLYCTK TKT GPR62 DNAH1 GLYCTK-AS1
GH03H052317 0.9 Ensembl ENCODE 0.7 +1.5 1489 1 CTBP1 ZNF687 RFX1 POLR2A MNT ZBTB40 TCF7L2 GABPA ETS1 LOC101929054 DNAH1 PPP2R5CP
GH03H052298 1.5 FANTOM5 Ensembl ENCODE 0.4 -16.7 -16667 2 ATF1 ARID4B TCF12 ZNF766 GLIS2 GATA2 ELK1 FOS ATF7 MCM3 PBRM1 GLYCTK PPM1M RFT1 RRP9 TWF2 GLYCTK-AS1 DNAH1
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers 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

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):
  • 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

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

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 NAS,IEA 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

Animal Models for DNAH1 Gene

MGI Knock Outs for DNAH1:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for DNAH1
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Human Phenotype Ontology , 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
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

Interacting Proteins 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 --
GO:0003351 epithelial cilium movement IEA --
GO:0007018 microtubule-based movement IEA --
GO:0030317 flagellated sperm motility IMP 24360805
GO:0036159 inner dynein arm assembly IDA 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

Clone Products

  • Applied Biological Materials Clones for DNAH1
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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, PaxDb, 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.

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
Organs:
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 33 34
  • 99.34 (n)
cow
(Bos Taurus)
Mammalia DNAH1 33 34
  • 88.8 (n)
dog
(Canis familiaris)
Mammalia DNAH1 33 34
  • 88.79 (n)
mouse
(Mus musculus)
Mammalia Dnah1 33 16 34
  • 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 33 34
  • 72.63 (n)
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 33 34
  • 71.22 (n)
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)

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
rs544674332 Pathogenic 52,353,613(+) CTGGC(A/C)AGGAG nc-transcript-variant, reference, missense
rs76591348 Uncertain significance 52,344,554(+) TGAAC(A/G)AGATC nc-transcript-variant, reference, missense
rs1000003594 -- 52,373,224(+) GAGAC(A/G)CCGCC intron-variant
rs1000016059 -- 52,359,734(+) GCCAG(A/G)CATGT intron-variant
rs1000034266 -- 52,341,974(+) CTGGG(C/T)TTTTA intron-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)

Relevant External Links for DNAH1 Gene

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

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

Disorders for DNAH1 Gene

MalaCards: The human disease database

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

- 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 letters 1997) 2 3 4 60
  2. Multiple mouse chromosomal loci for dynein-based motility. (PMID: 8812413) Vaughan KT … Vallee RB (Genomics 1996) 2 3 4 60
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 60
  4. Disruption of an inner arm dynein heavy chain gene results in asthenozoospermia and reduced ciliary beat frequency. (PMID: 11371505) Neesen J … Engel W (Human molecular genetics 2001) 3 22 60
  5. 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 research : an international journal for rapid publication of reports on genes and genomes 2000) 3 4 60

Products for DNAH1 Gene

Sources for DNAH1 Gene

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