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DNAH14 Gene(Protein Coding)

Dynein Axonemal Heavy Chain 14

GCID:
GC01P224896
GIFtS:
46
Genes Participants
UDN Logo

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
  • Ciliary Dynein Heavy Chain 14 3 4
  • C1orf67 3 4
  • Chromosome 1 Open Reading Frame 67 2
  • Dynein Heavy Chain 14, Axonemal 3
  • Dnahc14 3
  • HL-18 3
  • HL18 3

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 Communicating Hydrocephalus. 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 microtubule motor activity.

UniProtKB/Swiss-Prot 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 Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for DNAH14 Gene

Genomics for DNAH14 Gene

Products:

  1. Regulatory Element

Regulatory Elements for DNAH14 Gene

Enhancers for DNAH14 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
GH01F224929 1.1 ENCODE 8.6 +33.9 33860 2.0 HDGF PKNOX1 CREB3L1 ARID4B SIN3A DMAP1 ZNF2 YY1 CBX5 ZNF143 CICP5 DNAH14 LOC105373109 GC01M225093
GH01F224883 0.8 ENCODE 9.8 -11.7 -11687 1.2 FEZF1 ZNF514 GATA3 ZNF19 PRDM10 KLF8 ZBTB20 TCF7L2 GFI1B OVOL3 CICP5 LOC105373106 DNAH14 GC01P224877
GH01F224873 1.1 Ensembl ENCODE 6.8 -22.0 -21996 2.1 PKNOX1 FEZF1 YY1 ZNF121 ZNF366 ZNF362 ZNF680 OVOL3 ZEB2 ZNF843 CICP5 LOC105373106 DNAH14 GC01P224877 GC01M224863
GH01F225887 1.2 Ensembl ENCODE 6 +993.4 993404 4.8 PKNOX1 ATF1 MLX KLF17 THRB RARA YY1 ZNF121 FOS CREM PYCR2 LEFTY1 LEFTY2 TMEM63A ENSG00000255835 MIR6741 ENSG00000248322 DNAH14
GH01F224880 0.4 ENCODE 8.3 -15.5 -15519 0.3 TEAD4 LOC105373106 DNAH14 GC01P224877
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around DNAH14 on UCSC Golden Path with GeneCards custom track

Transcription factor binding sites by QIAGEN in the DNAH14 gene promoter:

Genomic Location for DNAH14 Gene

Chromosome:
1
Start:
224,896,262 bp from pter
End:
225,399,294 bp from pter
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 Structure • Gene Density

RefSeq DNA sequence for DNAH14 Gene

Proteins for DNAH14 Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

  • 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=CAI95150.2; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=CAI95641.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=CAI95642.2; Type=Erroneous gene model prediction; 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

Protein Expression for DNAH14 Gene

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

Post-translational modifications for DNAH14 Gene

Other Protein References for DNAH14 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for DNAH14 Gene

Domains & Families for DNAH14 Gene

Gene Families for DNAH14 Gene

HGNC:

Protein Domains for DNAH14 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for DNAH14 Gene

GenScript: Design optimal peptide antigens:

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

Products:

  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line
  7. Flow Cytometry

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).

Gene Ontology (GO) - Molecular Function for DNAH14 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003774 motor activity IEA --
GO:0003777 microtubule motor activity IEA --
GO:0005524 ATP binding IEA --
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

Animal Model Products

Inhibitory RNA Products

Flow Cytometry Products

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
cytosol 3
endoplasmic reticulum 2

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:0005874 microtubule IEA --
GO:0005929 cilium IEA --
GO:0030286 dynein complex 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

1 KEGG pathway for DNAH14 Gene

Interacting Proteins for DNAH14 Gene

STRING Interaction Network Preview (showing 5 interactants - click image to see 25)
http://string-db.org/version_10/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000383737%0d%0a9606.ENSP00000401514%0d%0a9606.ENSP00000216068%0d%0a9606.ENSP00000367841%0d%0a9606.ENSP00000242577%0d%0a9606.ENSP00000262442%0d%0a
Selected Interacting proteins: ENSP00000383737 Q0VDD8-DYH14_HUMAN for DNAH14 Gene via STRING IID

Gene Ontology (GO) - Biological Process for DNAH14 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007018 microtubule-based movement 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

Products:

  1. Drug
No Compound Related Data Available

Transcripts for DNAH14 Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone
  5. Flow Cytometry

mRNA/cDNA for DNAH14 Gene

(29) REFSEQ mRNAs :
(6) Additional mRNA sequences :
(28) Selected AceView cDNA sequences:
(18) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for DNAH14 Gene

Dynein, axonemal, heavy chain 14:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

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

No ASD Table

Relevant External Links for DNAH14 Gene

GeneLoc Exon Structure for
DNAH14
ECgene alternative splicing isoforms for
DNAH14

Expression for DNAH14 Gene

Products:

  1. Primer

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

mRNA expression in normal human tissues for DNAH14 Gene
mRNA expression by BioGPS for DNAH14 GenemRNA expression by GTEx 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, PaxDb, and MOPED for DNAH14 Gene



NURSA nuclear receptor signaling pathways regulating expression of DNAH14 Gene:

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

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein tissue co-expression partners and mRNA Expression by UniProt/SwissProt 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 34 35
  • 98.21 (n)
cow
(Bos Taurus)
 Mammalia DNAH14 34
  • 83.95 (n)
dog
(Canis familiaris)
 Mammalia DNAH14 34
  • 82.69 (n)
mouse
(Mus musculus)
 Mammalia Dnah14 34 16
  • 72.61 (n)
platypus
(Ornithorhynchus anatinus)
 Mammalia DNAH14 35
  • 53 (a)
 OneToOne
oppossum
(Monodelphis domestica)
 Mammalia DNAH14 35
  • 32 (a)
 OneToOne
chicken
(Gallus gallus)
 Aves DNAH14 35
  • 28 (a)
 OneToOne
tropical clawed frog
(Silurana tropicalis)
 Amphibia dnah14 34
  • 56.36 (n)
Species where no ortholog for DNAH14 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)
  • 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 squirt (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)

Paralogs for DNAH14 Gene

No data available for Paralogs for DNAH14 Gene

Variants for DNAH14 Gene

Sequence variations from dbSNP and Humsavar for DNAH14 Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type
rs786205668 Likely pathogenic 225,100,772(+) AATAA(A/T)GTCAA nc-transcript-variant, reference, missense
rs10047190 -- 225,359,419(+) CTCCA(A/G/T)CCCTT intron-variant
rs10047221 -- 225,361,376(+) ATGCA(G/T)AAATT intron-variant
rs10082304 -- 225,276,282(+) GCAGA(A/G)CATTA intron-variant, downstream-variant-500B
rs10082306 -- 225,276,403(+) AAGAT(A/G)AATGC intron-variant, downstream-variant-500B

Structural Variations from Database of Genomic Variants (DGV) for DNAH14 Gene

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

Variation tolerance for DNAH14 Gene

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

Relevant External Links for DNAH14 Gene

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

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

Disorders for DNAH14 Gene

MalaCards: The human disease database

(1) MalaCards diseases for DNAH14 Gene - From: DISEASES

Disorder Aliases PubMed IDs
communicating hydrocephalus
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for DNAH14

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
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 K.T. … Vallee R.B. (Genomics 1996) 2 3 64
  2. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3 64
  3. Interactions of pathological hallmark proteins: tubulin polymerization promoting protein/p25, beta-amyloid, and alpha-synuclein. (PMID: 21832049) OlA!h J. … OvA!di J. (J. Biol. Chem. 2011) 3 64
  4. The DNA sequence and biological annotation of human chromosome 1. (PMID: 16710414) Gregory S.G. … Bentley D.R. (Nature 2006) 4 64
  5. Transcriptome characterization elucidates signaling networks that control human ES cell growth and differentiation. (PMID: 15146197) Brandenberger R. … Stanton L.W. (Nat. Biotechnol. 2004) 3 64

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