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DNAH10 dynein axonemal heavy chain 10 [ Homo sapiens (human) ]

Gene ID: 196385, updated on 28-Oct-2024

Summary

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Official Symbol
DNAH10provided by HGNC
Official Full Name
dynein axonemal heavy chain 10provided by HGNC
Primary source
HGNC:HGNC:2941
See related
Ensembl:ENSG00000197653 MIM:605884; AllianceGenome:HGNC:2941
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
SPGF56
Summary
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]
Expression
Biased expression in testis (RPKM 3.1), bone marrow (RPKM 0.9) and 3 other tissues See more
Orthologs
mouse all
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Genomic context

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See DNAH10 in Genome Data Viewer
Location:
12q24.31
Exon count:
80
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (123762301..123935720)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (123761225..123937157)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (124246848..124420267)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7274 Neighboring gene ReSE screen-validated silencer GRCh37_chr12:124184156-124184331 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5049 Neighboring gene uncharacterized LOC105370042 Neighboring gene ReSE screen-validated silencer GRCh37_chr12:124206184-124206364 Neighboring gene tectonic family member 2 Neighboring gene ATPase H+ transporting V0 subunit a2 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr12:124232793-124233992 Neighboring gene ribosomal protein L27 pseudogene 12 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5050 Neighboring gene uncharacterized LOC105370044 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7275 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:124383373-124383873 Neighboring gene Sharpr-MPRA regulatory region 5794 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr12:124402328-124403527 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:124401655-124402156 Neighboring gene uncharacterized LOC124903043 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:124422596-124423096 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:124423097-124423597 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:124438925-124439426 Neighboring gene dynein axonemal heavy chain 10 opposite strand Neighboring gene NANOG hESC enhancer GRCh37_chr12:124453330-124453831 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:124456125-124456862 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5054 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5053 Neighboring gene ZNF664-RFLNA readthrough Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:124456863-124457600 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5055 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7276 Neighboring gene coiled-coil domain containing 92 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5056 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7277 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7278 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7279 Neighboring gene zinc finger protein 664 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr12:124556312-124557118 Neighboring gene NANOG hESC enhancer GRCh37_chr12:124594949-124595450 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:124600014-124600560 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:124601652-124602196 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:124601106-124601651 Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:124608857-124609358 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr12:124624781-124625523 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:124625524-124626265 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr12:124630091-124630857 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:124666563-124667068 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:124672143-124672663 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:124672664-124673183 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:124673184-124673704 Neighboring gene Sharpr-MPRA regulatory region 13038 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:124725860-124726762 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7280 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:124786919-124787420 Neighboring gene refilin A

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Bi-allelic variants in DNAH10 cause asthenoteratozoospermia and male infertility. Li K, et al. J Assist Reprod Genet, 2022 Jan. PMID 34657236, Free PMC Article
  2. DNAH10 mutation correlates with cisplatin sensitivity and tumor mutation burden in small-cell lung cancer. Li M, et al. Aging (Albany NY), 2020 Jan 20. PMID 31959735, Free PMC Article
  3. Discovery of increased epidermal DNAH10 expression after regeneration of dermis in a randomized with-in person trial - reflections on psoriatic inflammation. Lagus H, et al. Sci Rep, 2019 Dec 13. PMID 31836722, Free PMC Article
  4. Identification of predicted human outer dynein arm genes: candidates for primary ciliary dyskinesia genes. Pazour GJ, et al. J Med Genet, 2006 Jan. PMID 15937072, Free PMC Article
  5. Bi-allelic mutations of DNAH10 cause primary male infertility with asthenoteratozoospermia in humans and mice. Tu C, et al. Am J Hum Genet, 2021 Aug 5. PMID 34237282, Free PMC Article

See all (36) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Dynein axonemal heavy chain 10 deficiency causes primary ciliary dyskinesia in humans and mice.
    Title: Dynein axonemal heavy chain 10 deficiency causes primary ciliary dyskinesia in humans and mice.
  2. Bi-allelic variants in DNAH10 cause asthenoteratozoospermia and male infertility.
    Title: Bi-allelic variants in DNAH10 cause asthenoteratozoospermia and male infertility.
  3. Bi-allelic mutations of DNAH10 cause primary male infertility with asthenoteratozoospermia in humans and mice.
    Title: Bi-allelic mutations of DNAH10 cause primary male infertility with asthenoteratozoospermia in humans and mice.
  4. DNAH10 mutation correlates with cisplatin sensitivity and tumor mutation burden in small-cell lung cancer.
    Title: DNAH10 mutation correlates with cisplatin sensitivity and tumor mutation burden in small-cell lung cancer.
  5. Discovery of increased epidermal DNAH10 expression after regeneration of dermis in a randomized with-in person trial - reflections on psoriatic inflammation.
    Title: Discovery of increased epidermal DNAH10 expression after regeneration of dermis in a randomized with-in person trial - reflections on psoriatic inflammation.
  6. Mutations in the genes glucokinase regulatory protein (GCKR), RNase L (RNASEL), leukocyte immunoglobulin-like receptor 3 (LILRA3), and dynein axonemal heavy chain 10 (DNAH10) segregated with elevated HDLc levels in families, while no mutations associated with low HDLc.
    Title: Identification of four novel genes contributing to familial elevated plasma HDL cholesterol in humans.
  7. Mutation in DNAH10 gene is associated with insulin-resistant cardiometabolic disease.
    Title: Integrative genomic analysis implicates limited peripheral adipose storage capacity in the pathogenesis of human insulin resistance.
  8. This is the first time a haplotype on chromosome 12 containing sequence variants in the genes DCTN2, DNAH10, LRIG3, and MYO1A has been linked to an inherited neuropathy in humans.
    Title: Variants in the genes DCTN2, DNAH10, LRIG3, and MYO1A are associated with intermediate Charcot-Marie-Tooth disease in a Norwegian family.
  9. Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
    Title: Forty-three loci associated with plasma lipoprotein size, concentration, and cholesterol content in genome-wide analysis.
Submit: New GeneRIF Correction

Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
Spermatogenic failure 56
MedGen: C5561978 OMIM: 619515 GeneReviews: Not available
Compare labs

EBI GWAS Catalog

Description
A meta-analysis of genome-wide association studies identifies novel variants associated with osteoarthritis of the hip.
EBI GWAS Catalog
Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women.
EBI GWAS Catalog
Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.
EBI GWAS Catalog
Novel loci for adiponectin levels and their influence on type 2 diabetes and metabolic traits: a multi-ethnic meta-analysis of 45,891 individuals.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ38262, FLJ43486, FLJ43808, KIAA2017

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables ATP binding IEA
Inferred from Electronic Annotation
more info
  
enables ATP hydrolysis activity IEA
Inferred from Electronic Annotation
more info
  
enables dynein intermediate chain binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables dynein light intermediate chain binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables minus-end-directed microtubule motor activity IBA
Inferred from Biological aspect of Ancestor
more info
  
Process Evidence Code Pubs
involved_in cilium movement involved in cell motility IBA
Inferred from Biological aspect of Ancestor
more info
  
Component Evidence Code Pubs
is_active_in 9+2 motile cilium IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in axoneme IEA
Inferred from Electronic Annotation
more info
  
part_of dynein complex IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in microtubule IEA
Inferred from Electronic Annotation
more info
  

General protein information

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Preferred Names
dynein axonemal heavy chain 10
Names
axonemal beta dynein heavy chain 10
ciliary dynein heavy chain 10
dynein heavy chain 10, axonemal
dynein, axonemal, heavy polypeptide 10

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001372106.1 → NP_001359035.1  dynein axonemal heavy chain 10 isoform 3

    Status: VALIDATED

    Source sequence(s)
    AB290168, AC079315, AC117503, AI333321, AK125475, BC144575, DV080259, DV080609, HY041008
    Consensus CDS
    CCDS91767.1
    UniProtKB/TrEMBL
    A0A1C7CYW8, A0A669KB38
    Related
    ENSP00000501095.1, ENST00000673944.1
    Conserved Domains (6) summary
    COG5245
    Location:1274 → 4265
    DYN1; Dynein, heavy chain [Cytoskeleton]
    pfam08385
    Location:306 → 876
    DHC_N1; Dynein heavy chain, N-terminal region 1
    pfam08393
    Location:1372 → 1777
    DHC_N2; Dynein heavy chain, N-terminal region 2
    pfam12774
    Location:1912 → 2238
    AAA_6; Hydrolytic ATP binding site of dynein motor region D1
    pfam12780
    Location:2891 → 3150
    AAA_8; P-loop containing dynein motor region D4
    pfam18199
    Location:4288 → 4586
    Dynein_C; Dynein heavy chain C-terminal domain

  2. NM_207437.3 → NP_997320.2  dynein axonemal heavy chain 10 isoform 1

    See identical proteins and their annotated locations for NP_997320.2

    Status: VALIDATED

    Source sequence(s)
    AB290168, AC079315, AC117503, AL046294, DV080260, DV080609
    Consensus CDS
    CCDS9255.2
    UniProtKB/Swiss-Prot
    C9JMF5, O95495, Q6ZUC9, Q6ZUP6, Q8IVF4, Q8N761
    UniProtKB/TrEMBL
    A0A1C7CYW8
    Related
    ENSP00000489675.1, ENST00000638045.1
    Conserved Domains (6) summary
    COG5245
    Location:1156 → 4147
    DYN1; Dynein, heavy chain [Cytoskeleton]
    pfam08385
    Location:245 → 758
    DHC_N1; Dynein heavy chain, N-terminal region 1
    pfam08393
    Location:1254 → 1659
    DHC_N2; Dynein heavy chain, N-terminal region 2
    pfam12774
    Location:1794 → 2120
    AAA_6; Hydrolytic ATP binding site of dynein motor region D1
    pfam12780
    Location:2773 → 3032
    AAA_8; P-loop containing dynein motor region D4
    pfam18199
    Location:4170 → 4468
    Dynein_C; Dynein heavy chain C-terminal domain

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000012.12 Reference GRCh38.p14 Primary Assembly

    Range
    123762301..123935720
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017018960.2 → XP_016874449.1  dynein axonemal heavy chain 10 isoform X4

    UniProtKB/TrEMBL
    A0A1C7CYW8

  2. XM_011538016.3 → XP_011536318.1  dynein axonemal heavy chain 10 isoform X3

    UniProtKB/TrEMBL
    A0A1C7CYW8
    Conserved Domains (6) summary
    pfam03028
    Location:3819 → 4515
    Dynein_heavy; Dynein heavy chain and region D6 of dynein motor
    pfam08385
    Location:304 → 876
    DHC_N1; Dynein heavy chain, N-terminal region 1
    pfam08393
    Location:1375 → 1778
    DHC_N2; Dynein heavy chain, N-terminal region 2
    pfam12777
    Location:3100 → 3433
    MT; Microtubule-binding stalk of dynein motor
    pfam12781
    Location:3462 → 3678
    AAA_9; ATP-binding dynein motor region D5
    cl21455
    Location:1912 → 2140
    P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases

  3. XM_011538014.3 → XP_011536316.1  dynein axonemal heavy chain 10 isoform X1

    UniProtKB/TrEMBL
    A0A1C7CYW8
    Conserved Domains (6) summary
    pfam03028
    Location:3829 → 4525
    Dynein_heavy; Dynein heavy chain and region D6 of dynein motor
    pfam08385
    Location:304 → 876
    DHC_N1; Dynein heavy chain, N-terminal region 1
    pfam08393
    Location:1375 → 1778
    DHC_N2; Dynein heavy chain, N-terminal region 2
    pfam12777
    Location:3110 → 3443
    MT; Microtubule-binding stalk of dynein motor
    pfam12781
    Location:3472 → 3688
    AAA_9; ATP-binding dynein motor region D5
    cl21455
    Location:1912 → 2140
    P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases

  4. XM_011538015.4 → XP_011536317.1  dynein axonemal heavy chain 10 isoform X2

    UniProtKB/TrEMBL
    A0A1C7CYW8
    Conserved Domains (6) summary
    pfam03028
    Location:3819 → 4515
    Dynein_heavy; Dynein heavy chain and region D6 of dynein motor
    pfam08385
    Location:304 → 876
    DHC_N1; Dynein heavy chain, N-terminal region 1
    pfam08393
    Location:1375 → 1778
    DHC_N2; Dynein heavy chain, N-terminal region 2
    pfam12777
    Location:3100 → 3433
    MT; Microtubule-binding stalk of dynein motor
    pfam12781
    Location:3462 → 3678
    AAA_9; ATP-binding dynein motor region D5
    cl21455
    Location:2821 → 3088
    P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases

  5. XM_011538017.4 → XP_011536319.1  dynein axonemal heavy chain 10 isoform X6

    UniProtKB/TrEMBL
    A0A1C7CYW8
    Conserved Domains (6) summary
    pfam03028
    Location:3770 → 4466
    Dynein_heavy; Dynein heavy chain and region D6 of dynein motor
    pfam08385
    Location:304 → 876
    DHC_N1; Dynein heavy chain, N-terminal region 1
    pfam08393
    Location:1375 → 1778
    DHC_N2; Dynein heavy chain, N-terminal region 2
    pfam12777
    Location:3051 → 3384
    MT; Microtubule-binding stalk of dynein motor
    pfam12781
    Location:3413 → 3629
    AAA_9; ATP-binding dynein motor region D5
    cl21455
    Location:2772 → 3039
    P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases

  6. XM_017018961.2 → XP_016874450.1  dynein axonemal heavy chain 10 isoform X5

    UniProtKB/TrEMBL
    A0A1C7CYW8

  7. XM_047428477.1 → XP_047284433.1  dynein axonemal heavy chain 10 isoform X9

  8. XM_011538019.3 → XP_011536321.1  dynein axonemal heavy chain 10 isoform X7

    UniProtKB/TrEMBL
    B0I1S1
    Conserved Domains (5) summary
    pfam03028
    Location:2829 → 3525
    Dynein_heavy; Dynein heavy chain and region D6 of dynein motor
    pfam08393
    Location:322 → 725
    DHC_N2; Dynein heavy chain, N-terminal region 2
    pfam12777
    Location:2110 → 2443
    MT; Microtubule-binding stalk of dynein motor
    pfam12781
    Location:2472 → 2688
    AAA_9; ATP-binding dynein motor region D5
    cl21455
    Location:859 → 1087
    P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases

  9. XM_017018962.2 → XP_016874451.1  dynein axonemal heavy chain 10 isoform X8

    UniProtKB/TrEMBL
    B0I1S1

  10. XM_047428478.1 → XP_047284434.1  dynein axonemal heavy chain 10 isoform X10

Reference GRCh38.p14 ALT_REF_LOCI_1

Genomic

  1. NT_187590.1 Reference GRCh38.p14 ALT_REF_LOCI_1

    Range
    177..109264
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060936.1 Alternate T2T-CHM13v2.0

    Range
    123761225..123937157
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054371369.1 → XP_054227344.1  dynein axonemal heavy chain 10 isoform X4

  2. XM_054371368.1 → XP_054227343.1  dynein axonemal heavy chain 10 isoform X3

  3. XM_054371366.1 → XP_054227341.1  dynein axonemal heavy chain 10 isoform X1

  4. XM_054371367.1 → XP_054227342.1  dynein axonemal heavy chain 10 isoform X2

  5. XM_054371371.1 → XP_054227346.1  dynein axonemal heavy chain 10 isoform X6

  6. XM_054371370.1 → XP_054227345.1  dynein axonemal heavy chain 10 isoform X5

  7. XM_054371374.1 → XP_054227349.1  dynein axonemal heavy chain 10 isoform X9

  8. XM_054371372.1 → XP_054227347.1  dynein axonemal heavy chain 10 isoform X7

  9. XM_054371373.1 → XP_054227348.1  dynein axonemal heavy chain 10 isoform X8

  10. XM_054371375.1 → XP_054227350.1  dynein axonemal heavy chain 10 isoform X10

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_207438.1: Suppressed sequence

    Description
    NM_207438.1: This RefSeq record was removed by NCBI staff. Contact info@ncbi.nlm.nih.gov for further information.
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q8IVF4.4 GenPept UniProtKB/Swiss-Prot:Q8IVF4

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