DNAH10 Gene (Protein Coding)

Dynein Axonemal Heavy Chain 10

GC12P123762
GIFtS:
34
Dyneins are microtubule-associated motor protein complexes composed of several heavy, light, and intermediate chains. The axonemal dyneins, found in cilia and flagella, are components of the outer and inner dynein arms attached to the peripheral microtubule doublets. DNAH10 is an inner arm dynein heavy chain (Maiti et al., 2000 [PubMed 11175280]).[supplied by OMIM, Mar 2008] See more...

Aliases for DNAH10 Gene

Aliases for DNAH10 Gene

  • Dynein Axonemal Heavy Chain 10 2 3 5
  • Dynein, Axonemal, Heavy Polypeptide 10 2 3
  • Axonemal Beta Dynein Heavy Chain 10 3 4
  • Dynein Heavy Chain 10, Axonemal 3 4
  • Ciliary Dynein Heavy Chain 10 3 4
  • FLJ43808 2
  • KIAA2017 4
  • DNAH10 5

External Ids for DNAH10 Gene

Previous GeneCards Identifiers for DNAH10 Gene

  • GC13U990058
  • GC12P124029
  • GC12P122599
  • GC12P122658
  • GC12P122902
  • GC12P122792
  • GC12U900526
  • GC12P124247
  • GC12P121208

Summaries for DNAH10 Gene

Entrez Gene Summary for DNAH10 Gene

  • Dyneins are microtubule-associated motor protein complexes composed of several heavy, light, and intermediate chains. The axonemal dyneins, found in cilia and flagella, are components of the outer and inner dynein arms attached to the peripheral microtubule doublets. DNAH10 is an inner arm dynein heavy chain (Maiti et al., 2000 [PubMed 11175280]).[supplied by OMIM, Mar 2008]

GeneCards Summary for DNAH10 Gene

DNAH10 (Dynein Axonemal Heavy Chain 10) is a Protein Coding gene. Diseases associated with DNAH10 include Lipodystrophy, Familial Partial, Type 1 and Primary Ciliary Dyskinesia. Among its related pathways are Pathways of neurodegeneration - multiple diseases. Gene Ontology (GO) annotations related to this gene include ATPase activity and microtubule motor activity. An important paralog of this gene is DNAH5.

UniProtKB/Swiss-Prot Summary for DNAH10 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). Probable inner arm dynein heavy chain.

Additional gene information for DNAH10 Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for DNAH10 Gene

Genomics for DNAH10 Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for DNAH10 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around DNAH10 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for DNAH10

Top Transcription factor binding sites by QIAGEN in the DNAH10 gene promoter:
  • ARP-1
  • GR
  • GR-alpha
  • GR-beta
  • Nkx3-1 v2
  • Nkx3-1 v3
  • Nkx3-1 v4
  • POU2F1
  • POU2F1a
  • TGIF

Genomic Locations for DNAH10 Gene

Latest Assembly
chr12:123,761,995-123,935,720
(GRCh38/hg38)
Size:
173,726 bases
Orientation:
Plus strand

Previous Assembly
chr12:124,246,848-124,420,267
(GRCh37/hg19 by Entrez Gene)
Size:
173,420 bases
Orientation:
Plus strand

chr12:124,247,042-124,420,753
(GRCh37/hg19 by Ensembl)
Size:
173,712 bases
Orientation:
Plus strand

Genomic View for DNAH10 Gene

Genes around DNAH10 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
DNAH10 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for DNAH10 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for DNAH10 Gene

Proteins for DNAH10 Gene

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  • Protein details for DNAH10 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8IVF4-DYH10_HUMAN
    Recommended name:
    Dynein heavy chain 10, axonemal
    Protein Accession:
    Q8IVF4
    Secondary Accessions:
    • C9JMF5
    • O95495
    • Q6ZUC9
    • Q6ZUP6
    • Q8N761

    Protein attributes for DNAH10 Gene

    Size:
    4471 amino acids
    Molecular mass:
    514841 Da
    Quaternary structure:
    • Consists of at least two heavy chains and a number of intermediate and light chains.
    SequenceCaution:
    • Sequence=BAC04579.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=BAC86296.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};

    Alternative splice isoforms for DNAH10 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for DNAH10 Gene

Protein Expression for DNAH10 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for DNAH10 Gene

  • Glycosylation at Asn1074
  • Modification sites at PhosphoSitePlus

Other Protein References for DNAH10 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for DNAH10 Gene

Domains & Families for DNAH10 Gene

Gene Families for DNAH10 Gene

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

Protein Domains for DNAH10 Gene

InterPro:
Blocks:
  • ATPase associated with various cellular activities, AAA_5
ProtoNet:

Suggested Antigen Peptide Sequences for DNAH10 Gene

GenScript: Design optimal peptide antigens:
  • DNAH10 protein (C4IXU6_HUMAN)
  • Ciliary dynein heavy chain 10 (DYH10_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q8IVF4

UniProtKB/Swiss-Prot:

DYH10_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 DNAH10: view

Function for DNAH10 Gene

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  6. Cell Lines for research

Molecular function for DNAH10 Gene

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). Probable inner arm dynein heavy chain.

Phenotypes From GWAS Catalog for DNAH10 Gene

Gene Ontology (GO) - Molecular Function for DNAH10 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IEA --
GO:0003774 motor activity IEA --
GO:0003777 microtubule motor activity IEA --
GO:0005524 ATP binding IEA --
GO:0008569 ATP-dependent microtubule motor activity, minus-end-directed IBA 21873635
genes like me logo Genes that share ontologies with DNAH10: view
genes like me logo Genes that share phenotypes with DNAH10: view

Animal Models for research

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for DNAH10

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for DNAH10 Gene

Localization for DNAH10 Gene

Subcellular locations from UniProtKB/Swiss-Prot for DNAH10 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 DNAH10 gene
Compartment Confidence
cytoskeleton 4
nucleus 2
cytosol 2
extracellular 1
mitochondrion 1

Gene Ontology (GO) - Cellular Components for DNAH10 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005856 cytoskeleton IEA --
GO:0005874 microtubule IEA --
GO:0005929 cilium IEA --
GO:0005930 axoneme IBA 21873635
genes like me logo Genes that share ontologies with DNAH10: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for DNAH10 Gene

Pathways & Interactions for DNAH10 Gene

genes like me logo Genes that share pathways with DNAH10: view

Pathways by source for DNAH10 Gene

Gene Ontology (GO) - Biological Process for DNAH10 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007018 microtubule-based movement IEA,IBA 21873635
genes like me logo Genes that share ontologies with DNAH10: view

No data available for SIGNOR curated interactions for DNAH10 Gene

Drugs & Compounds for DNAH10 Gene

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No Compound Related Data Available

Transcripts for DNAH10 Gene

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mRNA/cDNA for DNAH10 Gene

2 REFSEQ mRNAs :
18 NCBI additional mRNA sequence :
11 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for DNAH10

Alternative Splicing Database (ASD) splice patterns (SP) for DNAH10 Gene

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

ExUns: 23a · 23b ^ 24 ^ 25 ^ 26a · 26b ^ 27 ^ 28
SP1:
SP2: -
SP3:
SP4:
SP5:
SP6:

Relevant External Links for DNAH10 Gene

GeneLoc Exon Structure for
DNAH10

Expression for DNAH10 Gene

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  1. Primer products for research
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mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for DNAH10 Gene

mRNA expression in normal human tissues for DNAH10 Gene
mRNA expression by GTEx for DNAH10 GenemRNA expression by BioGPS for DNAH10 Gene

mRNA differential expression in normal tissues according to GTEx for DNAH10 Gene

This gene is overexpressed in Testis (x8.5) and Fallopian Tube (x4.3).

Protein differential expression in normal tissues from HIPED for DNAH10 Gene

This gene is overexpressed in Cervix (18.9), Amniocyte (13.9), Liver (10.3), Tlymphocyte (7.7), and Testis (6.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for DNAH10 Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for DNAH10

SOURCE GeneReport for Unigene cluster for DNAH10 Gene:

Hs.622654

mRNA Expression by UniProt/SwissProt for DNAH10 Gene:

Q8IVF4-DYH10_HUMAN
Tissue specificity: Expressed primarily in trachea and testis, 2 tissues containing axonemal structures. Also expressed in brain but not in adult heart.

Evidence on tissue expression from TISSUES for DNAH10 Gene

  • Nervous system(4.4)
  • Liver(4.4)
  • Eye(4.2)
genes like me logo Genes that share expression patterns with DNAH10: view

Primer products for research

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for DNAH10 Gene

Orthologs for DNAH10 Gene

This gene was present in the common ancestor of animals.

Orthologs for DNAH10 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
 Mammalia DNAH10 30 31
  • 98.72 (n)
 OneToOne
Dog
(Canis familiaris)
 Mammalia DNAH10 30 31
  • 87.94 (n)
 OneToOne
Cow
(Bos Taurus)
 Mammalia DNAH10 30 31
  • 87.49 (n)
 OneToOne
Oppossum
(Monodelphis domestica)
 Mammalia DNAH10 31
  • 85 (a)
 OneToOne
Mouse
(Mus musculus)
 Mammalia Dnah10 30 17 31
  • 81.27 (n)
 OneToOne
Rat
(Rattus norvegicus)
 Mammalia Dnah10 30
  • 81.26 (n)
Platypus
(Ornithorhynchus anatinus)
 Mammalia DNAH10 31
  • 76 (a)
 OneToOne
Chicken
(Gallus gallus)
 Aves DNAH10 30
  • 71.2 (n)
-- 31
  • 33 (a)
 ManyToMany
Lizard
(Anolis carolinensis)
 Reptilia DNAH10 31
  • 76 (a)
 OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
 Amphibia dnah10 30
  • 71.37 (n)
African clawed frog
(Xenopus laevis)
 Amphibia Xl.7994 30
Zebrafish
(Danio rerio)
 Actinopterygii si:dkeyp-86b9.1 30
  • 67.65 (n)
African malaria mosquito
(Anopheles gambiae)
 Insecta AgaP_AGAP001660 30
  • 57.42 (n)
Fruit Fly
(Drosophila melanogaster)
 Insecta Dhc98D 30 31
  • 56.09 (n)
 OneToOne
Sea Squirt
(Ciona savignyi)
 Ascidiacea -- 31
  • 68 (a)
 OneToOne
Sea Vase
(Ciona intestinalis)
 Ascidiacea Cin.7110 30
Species where no ortholog for DNAH10 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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 DNAH10 Gene

ENSEMBL:
Gene Tree for DNAH10 (if available)
TreeFam:
Gene Tree for DNAH10 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for DNAH10: view image

Paralogs for DNAH10 Gene

Paralogs for DNAH10 Gene

(16) SIMAP similar genes for DNAH10 Gene using alignment to 4 proteins:

  • DYH10_HUMAN
  • C4IXU6_HUMAN
  • F5H515_HUMAN
  • H0YGZ2_HUMAN
genes like me logo Genes that share paralogs with DNAH10: view

Variants for DNAH10 Gene

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Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for DNAH10 Gene

SNP ID Clinical significance and condition Chr 12 pos Variation AA Info Type
978004 Uncertain Significance: Male infertility 123,914,504(+) C/G
NM_001372106.1(DNAH10):c.10528C>G (p.Pro3510Ala) 		MISSENSE
978006 Uncertain Significance: Male infertility 123,918,751(+) G/A
NM_001372106.1(DNAH10):c.11308G>A (p.Ala3770Thr) 		MISSENSE
978007 Uncertain Significance: Male infertility 123,819,037(+) C/T
NM_001372106.1(DNAH10):c.3868C>T (p.Leu1290Phe) 		MISSENSE
978008 Uncertain Significance: Male infertility 123,813,594(+) A/G
NM_001372106.1(DNAH10):c.3575A>G (p.Asn1192Ser) 		MISSENSE
rs10846559 Benign: not specified. - 123,789,927(+) A/Gp.Ile480Val
NM_207437.3(DNAH10):c.1438A>G (p.Ile480Val) 		MISSENSE

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for DNAH10 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for DNAH10 Gene

Variant ID Type Subtype PubMed ID
dgv2927n54 CNV gain 21841781
dgv2928n54 CNV gain+loss 21841781
dgv2929n54 CNV gain 21841781
dgv2930n54 CNV loss 21841781
dgv2931n54 CNV loss 21841781
dgv2932n54 CNV loss 21841781
dgv2933n54 CNV gain+loss 21841781
dgv887n106 CNV deletion 24896259
esv1783084 CNV insertion 17803354
esv2746513 CNV deletion 23290073
esv2746514 CNV deletion 23290073
esv29401 CNV gain+loss 19812545
esv3630996 CNV loss 21293372
esv998816 CNV insertion 20482838
nsv1071065 CNV deletion 25765185
nsv1141759 CNV insertion 24896259
nsv1153044 CNV insertion 26484159
nsv480736 CNV novel sequence insertion 20440878
nsv509484 CNV insertion 20534489
nsv522321 CNV loss 19592680
nsv560499 CNV gain 21841781
nsv560502 CNV loss 21841781
nsv560503 CNV loss 21841781
nsv560504 CNV gain+loss 21841781
nsv560507 CNV gain 21841781
nsv560508 CNV gain+loss 21841781
nsv560513 CNV gain 21841781
nsv560514 CNV gain+loss 21841781
nsv915 CNV insertion 18451855

Variation tolerance for DNAH10 Gene

Residual Variation Intolerance Score: 97.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 14.22; 96.22% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for DNAH10 Gene

Human Gene Mutation Database (HGMD)
DNAH10
SNPedia medical, phenotypic, and genealogical associations of SNPs for
DNAH10

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for DNAH10 Gene

Disorders for DNAH10 Gene

MalaCards: The human disease database

(3) MalaCards diseases for DNAH10 Gene - From: COP and GCD

Disorder Aliases PubMed IDs
lipodystrophy, familial partial, type 1
  • fpld1
primary ciliary dyskinesia
  • ciliary motility disorder
charcot-marie-tooth disease
  • cmt - charcot-marie-tooth disease
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for DNAH10

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with DNAH10: view

No data available for UniProtKB/Swiss-Prot and Genatlas for DNAH10 Gene

Publications for DNAH10 Gene

  1. Forty-three loci associated with plasma lipoprotein size, concentration, and cholesterol content in genome-wide analysis. (PMID: 19936222) Chasman DI … Ridker PM (PLoS genetics 2009) 3 41
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4
  3. Identification, tissue specific expression, and chromosomal localisation of several human dynein heavy chain genes. (PMID: 11175280) Maiti AK … Bouvagnet P (European journal of human genetics : EJHG 2000) 3 4
  4. Gain of Additional BIRC3 Protein Functions through 3'-UTR-Mediated Protein Complex Formation. (PMID: 30948266) Lee SH … Mayr C (Molecular cell 2019) 3
  5. The midbody interactome reveals unexpected roles for PP1 phosphatases in cytokinesis. (PMID: 31586073) Capalbo L … D'Avino PP (Nature communications 2019) 3

ExternalLinks

View latest publications for DNAH10 gene in Mastermind

Products for DNAH10 Gene

Sources for DNAH10 Gene