Dyneins are microtubule-associated motor protein complexes composed of several heavy, light, and intermediate chains. Two major classes of dyneins, axonemal and cytoplasmic, have been identified. DNAH14 is an axonemal dynein heavy chain (DHC) (Vaughan et al., 1996 [PubMed 8812413]).[supplied by OMIM, Mar 2008] See more...

Aliases for DNAH14 Gene

Aliases for DNAH14 Gene

  • Dynein Axonemal Heavy Chain 14 2 3 5
  • Dynein, Axonemal, Heavy Polypeptide 14 2 3
  • Axonemal Beta Dynein Heavy Chain 14 3 4
  • Dynein Heavy Chain 14, Axonemal 3 4
  • Ciliary Dynein Heavy Chain 14 3 4
  • C1orf67 3 4
  • Dnahc14 2 3
  • HL-18 2 3
  • HL18 2 3
  • Chromosome 1 Open Reading Frame 67 2
  • DKFZp781B1548 2
  • MGC27277 2
  • DNAH14 5

External Ids for DNAH14 Gene

Previous HGNC Symbols for DNAH14 Gene

  • C1orf67

Previous GeneCards Identifiers for DNAH14 Gene

  • GC01U990036
  • GC01P222303
  • GC01P222302
  • GC03M057407
  • GC01P221576
  • GC01P223398
  • GC01P223285
  • GC01P223184
  • GC01P225083
  • GC01P195635

Summaries for DNAH14 Gene

Entrez Gene Summary for DNAH14 Gene

  • Dyneins are microtubule-associated motor protein complexes composed of several heavy, light, and intermediate chains. Two major classes of dyneins, axonemal and cytoplasmic, have been identified. DNAH14 is an axonemal dynein heavy chain (DHC) (Vaughan et al., 1996 [PubMed 8812413]).[supplied by OMIM, Mar 2008]

GeneCards Summary for DNAH14 Gene

DNAH14 (Dynein Axonemal Heavy Chain 14) is a Protein Coding gene. Diseases associated with DNAH14 include Brain Compression and Primary Ciliary Dyskinesia. Among its related pathways are Pathways of neurodegeneration - multiple diseases. Gene Ontology (GO) annotations related to this gene include microtubule motor activity. An important paralog of this gene is DNAH6.

UniProtKB/Swiss-Prot Summary for DNAH14 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 CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for DNAH14 Gene

Genomics for DNAH14 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for DNAH14 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH01J224929 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas 258.6 +33.9 33938 2.4 ZSCAN16 TBP ZBTB10 MXD4 MNT IKZF1 SMAD5 ETS1 MBD2 ZEB1 DNAH14 LOC105373109 CICP5 NVL SEPTIN7P13 MN309174-030 LBR
GH01J224952 Promoter 0.3 EPDnew 250.2 +56.4 56388 0.1 DNAH14 HSALNG0010984 piR-48222-032 LBR
GH01J225887 Promoter/Enhancer 1.8 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 6 +993.5 993458 4.6 CEBPA ZIC2 FOXA2 SMAD4 RXRA GABPB1 RARA TEAD3 ZBTB33 THRB LEFTY1 PYCR2 LEFTY2 TMEM63A ENSG00000255835 ENSG00000248322 DNAH14 lnc-LEFTY1-1
GH01J224883 Enhancer 0.9 Ensembl ENCODE 9.8 -12.0 -11982 1.8 FEZF1 ZNF341 ZNF843 PRDM6 KLF16 ZNF624 TCF7L2 ZNF24 ZNF514 GLIS1 lnc-WDR26-3 NVL CICP5 SEPTIN7P13 CNIH3-AS1 DNAH14 ENSG00000286719 LOC105373109 HSALNG0010979 WDR26
GH01J224879 Enhancer 1 Ensembl ENCODE CraniofacialAtlas 8.4 -15.5 -15461 3.2 CEBPB EBF1 SMARCA5 PRDM6 SPI1 BHLHE40 JUND IKZF1 CEBPG NR2F1 ENSG00000286719 CNIH3-AS1 DNAH14 piR-37567-014 HSALNG0010979 WDR26
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around DNAH14 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for DNAH14

Top Transcription factor binding sites by QIAGEN in the DNAH14 gene promoter:
  • C/EBPalpha
  • RORalpha1

Genomic Locations for DNAH14 Gene

Latest Assembly
chr1:224,896,262-225,399,292
(GRCh38/hg38)
Size:
503,031 bases
Orientation:
Plus strand

Previous Assembly
chr1:225,117,356-225,586,988
(GRCh37/hg19 by Entrez Gene)
Size:
469,633 bases
Orientation:
Plus strand

chr1:225,083,964-225,586,996
(GRCh37/hg19 by Ensembl)
Size:
503,033 bases
Orientation:
Plus strand

Genomic View for DNAH14 Gene

Genes around DNAH14 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
DNAH14 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for DNAH14 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DNAH14 Gene

Proteins for DNAH14 Gene

  • Protein details for DNAH14 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q0VDD8-DYH14_HUMAN
    Recommended name:
    Dynein heavy chain 14, axonemal
    Protein Accession:
    Q0VDD8
    Secondary Accessions:
    • A6NG62
    • A6NNL2
    • Q0VDD9
    • Q4VXC7
    • Q4VXG4
    • Q4VXG5
    • Q5VU33
    • Q5VU34

    Protein attributes for DNAH14 Gene

    Size:
    3507 amino acids
    Molecular mass:
    399895 Da
    Quaternary structure:
    • Consists of at least two heavy chains and a number of intermediate and light chains.
    SequenceCaution:
    • Sequence=AAI19717.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=AAI19718.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=EAW69735.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};

    Alternative splice isoforms for DNAH14 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for DNAH14 Gene

Post-translational modifications for DNAH14 Gene

  • Glycosylation at Asn1818
  • Ubiquitination at Lys312
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for DNAH14 Gene

Domains & Families for DNAH14 Gene

Gene Families for DNAH14 Gene

Suggested Antigen Peptide Sequences for DNAH14 Gene

GenScript: Design optimal peptide antigens:
  • Dynein, axonemal, heavy chain 14 (B7ZBQ6_HUMAN)
  • Dynein, axonemal, heavy chain 14 (B7ZBS5_HUMAN)
  • Ciliary dynein heavy chain 14 (DYH14_HUMAN)
  • Chromosome 1 open reading frame 67 (E2PSN3_HUMAN)
  • Dynein heavy chain (Q92866_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q0VDD8

UniProtKB/Swiss-Prot:

DYH14_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 DNAH14: view

Function for DNAH14 Gene

Molecular function for DNAH14 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).

Phenotypes From GWAS Catalog for DNAH14 Gene

Gene Ontology (GO) - Molecular Function for DNAH14 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 DNAH14: view

Phenotypes for DNAH14 Gene

GenomeRNAi human phenotypes for DNAH14:
genes like me logo Genes that share phenotypes with DNAH14: view

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for DNAH14

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for DNAH14 Gene

Localization for DNAH14 Gene

Subcellular locations from UniProtKB/Swiss-Prot for DNAH14 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 DNAH14 gene
Compartment Confidence
plasma membrane 3
cytoskeleton 3
endoplasmic reticulum 2
cytosol 2
nucleus 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for DNAH14 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005856 cytoskeleton IEA --
GO:0005858 axonemal dynein complex IEA --
GO:0005874 microtubule IEA --
GO:0005929 cilium IEA --
genes like me logo Genes that share ontologies with DNAH14: view

Pathways & Interactions for DNAH14 Gene

genes like me logo Genes that share pathways with DNAH14: view

Pathways by source for DNAH14 Gene

Interacting Proteins for DNAH14 Gene

Gene Ontology (GO) - Biological Process for DNAH14 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007018 microtubule-based movement IBA 21873635
GO:0060285 cilium-dependent cell motility IEA --
genes like me logo Genes that share ontologies with DNAH14: view

No data available for SIGNOR curated interactions for DNAH14 Gene

Drugs & Compounds for DNAH14 Gene

No Compound Related Data Available

Transcripts for DNAH14 Gene

mRNA/cDNA for DNAH14 Gene

7 REFSEQ mRNAs :
10 NCBI additional mRNA sequence :
19 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 DNAH14

Alternative Splicing Database (ASD) splice patterns (SP) for DNAH14 Gene

No ASD Table

Relevant External Links for DNAH14 Gene

GeneLoc Exon Structure for
DNAH14

Expression for DNAH14 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for DNAH14 Gene

mRNA differential expression in normal tissues according to GTEx for DNAH14 Gene

This gene is overexpressed in Testis (x11.8) and Pituitary (x4.2).

Protein differential expression in normal tissues from HIPED for DNAH14 Gene

This gene is overexpressed in Esophagus (18.0), Placenta (13.3), Pancreatic juice (12.0), and Colon muscle (10.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for DNAH14 Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for DNAH14

SOURCE GeneReport for Unigene cluster for DNAH14 Gene:

Hs.133977
genes like me logo Genes that share expression patterns with DNAH14: 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 , mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for DNAH14 Gene

Orthologs for DNAH14 Gene

This gene was present in the common ancestor of chordates.

Orthologs for DNAH14 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia DNAH14 30 31
  • 98.21 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia DNAH14 30
  • 83.95 (n)
Dog
(Canis familiaris)
Mammalia DNAH14 30
  • 82.69 (n)
Mouse
(Mus musculus)
Mammalia Dnah14 30 17
  • 72.61 (n)
Platypus
(Ornithorhynchus anatinus)
Mammalia DNAH14 31
  • 53 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia DNAH14 31
  • 32 (a)
OneToOne
Chicken
(Gallus gallus)
Aves DNAH14 31
  • 28 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia dnah14 30
  • 56.36 (n)
Species where no ortholog for DNAH14 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Lizard (Anolis carolinensis)
  • 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)
  • Rat (Rattus norvegicus)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • 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)
  • Zebrafish (Danio rerio)

Evolution for DNAH14 Gene

ENSEMBL:
Gene Tree for DNAH14 (if available)
TreeFam:
Gene Tree for DNAH14 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for DNAH14: view image

Paralogs for DNAH14 Gene

(16) SIMAP similar genes for DNAH14 Gene using alignment to 11 proteins:

  • DYH14_HUMAN
  • C9JU64_HUMAN
  • H0YBB1_HUMAN
  • H0YBI3_HUMAN
  • H7BXS7_HUMAN
  • H7C164_HUMAN
  • H7C374_HUMAN
  • H7C3Z3_HUMAN
  • H9KV43_HUMAN
  • M9MMK7_HUMAN
  • Q92866_HUMAN
genes like me logo Genes that share paralogs with DNAH14: view

Variants for DNAH14 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for DNAH14 Gene

SNP ID Clinical significance and condition Chr 01 pos Variation AA Info Type
rs10495237 Benign: not specified 225,318,592(+) A/G
NM_001367479.1(DNAH14):c.9250A>G (p.Asn3084Asp)
MISSENSE
rs10915816 Benign: not specified 225,374,683(+) C/T
NM_001367479.1(DNAH14):c.12319-5C>T
INTRON
rs115366080 Benign: not specified 225,080,404(+) C/A
NM_001367479.1(DNAH14):c.2792C>A (p.Ala931Asp)
MISSENSE
rs11578981 Benign: not specified 225,367,810(+) C/T
NM_001367479.1(DNAH14):c.12096C>T (p.Ala4032=)
SYNONYMOUS
rs12042900 Benign: not specified 225,290,091(+) T/G
NM_001367479.1(DNAH14):c.8469+9T>G
INTRON

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for DNAH14 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 DNAH14 Gene

Variant ID Type Subtype PubMed ID
dgv101e199 CNV deletion 23128226
dgv278n106 CNV deletion 24896259
dgv279n106 CNV duplication 24896259
dgv579n100 CNV gain 25217958
dgv834n54 CNV loss 21841781
esv1092506 CNV deletion 17803354
esv1332453 CNV insertion 17803354
esv1357490 CNV insertion 17803354
esv1621884 CNV deletion 17803354
esv2297381 CNV deletion 18987734
esv2367547 CNV deletion 18987734
esv2511976 CNV deletion 19546169
esv2552398 CNV deletion 19546169
esv2566088 CNV deletion 19546169
esv2607015 CNV deletion 19546169
esv2673679 CNV deletion 23128226
esv2723817 CNV deletion 23290073
esv2723828 CNV deletion 23290073
esv2723839 CNV deletion 23290073
esv2723850 CNV deletion 23290073
esv2723861 CNV deletion 23290073
esv2759001 CNV gain 17122850
esv2759002 CNV gain 17122850
esv2762171 CNV gain 21179565
esv3303827 CNV mobile element insertion 20981092
esv3331433 CNV insertion 20981092
esv3378167 CNV insertion 20981092
esv3379033 CNV insertion 20981092
esv3547456 CNV deletion 23714750
esv3547467 CNV deletion 23714750
esv3575739 CNV gain 25503493
esv3588980 CNV gain 21293372
esv3588981 CNV gain 21293372
esv3588982 CNV gain 21293372
esv3588985 CNV loss 21293372
esv3588986 CNV gain 21293372
esv3588987 CNV loss 21293372
esv3588988 CNV loss 21293372
esv3588990 CNV loss 21293372
esv4999 CNV loss 18987735
esv7171 CNV loss 19470904
esv996698 CNV deletion 20482838
nsv1004856 CNV loss 25217958
nsv1005824 CNV loss 25217958
nsv1068525 CNV deletion 25765185
nsv1122453 CNV deletion 24896259
nsv1133944 CNV deletion 24896259
nsv1136035 CNV deletion 24896259
nsv1150690 CNV deletion 26484159
nsv428312 CNV gain 18775914
nsv521527 CNV loss 19592680
nsv524233 CNV loss 19592680
nsv524461 CNV gain 19592680
nsv526708 CNV loss 19592680
nsv549264 CNV loss 21841781
nsv549265 CNV gain 21841781
nsv549266 CNV loss 21841781
nsv832703 CNV gain 17160897
nsv954329 CNV deletion 24416366
nsv957360 CNV deletion 24416366

Variation tolerance for DNAH14 Gene

Gene Damage Index Score: 18.57; 98.61% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for DNAH14 Gene

Human Gene Mutation Database (HGMD)
DNAH14
SNPedia medical, phenotypic, and genealogical associations of SNPs for
DNAH14

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for DNAH14 Gene

Disorders for DNAH14 Gene

MalaCards: The human disease database

(2) MalaCards diseases for DNAH14 Gene - From: COP

Disorder Aliases PubMed IDs
brain compression
  • compression of brain
primary ciliary dyskinesia
  • ciliary motility disorder
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for DNAH14

genes like me logo Genes that share disorders with DNAH14: view

No data available for UniProtKB/Swiss-Prot and Genatlas for DNAH14 Gene

Publications for DNAH14 Gene

  1. Multiple mouse chromosomal loci for dynein-based motility. (PMID: 8812413) Vaughan KT … Vallee RB (Genomics 1996) 2 3
  2. Histone Interaction Landscapes Visualized by Crosslinking Mass Spectrometry in Intact Cell Nuclei. (PMID: 30021884) Fasci D … Heck AJR (Molecular & cellular proteomics : MCP 2018) 3
  3. E3 ubiquitin ligase RNF123 targets lamin B1 and lamin-binding proteins. (PMID: 29676528) Khanna R … Parnaik VK (The FEBS journal 2018) 3
  4. Variation in Cilia Protein Genes and Progression of Lung Disease in Cystic Fibrosis. (PMID: 29323929) Blue E … U.S. National Heart, Lung, and Blood Institute “Grand Opportunity” Exome Sequencing Project (LungGO) (Annals of the American Thoracic Society 2018) 3
  5. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3

Products for DNAH14 Gene

Sources for DNAH14 Gene