Aliases for DNAH14 Gene
Aliases for DNAH14 Gene
External Ids for DNAH14 Gene
- HGNC: 2945
- Entrez Gene: 127602
- Ensembl: ENSG00000185842
- OMIM: 603341
- UniProtKB: Q0VDD8
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
-
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 CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for DNAH14 Gene
Genomics for DNAH14 Gene
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 |
|---|---|---|---|---|---|---|---|---|
| GH01G224929 | 1.1 | ENCODE | 8.6 | +33.9 | 33860 | 2.0 | HDGF PKNOX1 CREB3L1 ARNT ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF766 | CICP5 DNAH14 LOC105373109 GC01M225093 |
| GH01G225887 | 1.4 | Ensembl ENCODE dbSUPER | 6 | +993.4 | 993404 | 4.8 | FOXA2 PKNOX1 ATF1 MLX AGO1 YY1 ZNF121 FOS ZNF263 SP5 | PYCR2 LEFTY1 LEFTY2 TMEM63A ENSG00000255835 ENSG00000248322 DNAH14 |
| GH01G224883 | 0.8 | ENCODE | 9.8 | -11.7 | -11687 | 1.2 | FEZF1 ZNF350 OVOL3 ZNF843 ZNF518A ZNF555 PRDM6 KLF16 ZNF341 GLIS1 | CICP5 LOC105373106 DNAH14 GC01P224877 |
| GH01G224873 | 0.9 | ENCODE | 6.9 | -22.0 | -21996 | 2.1 | PKNOX1 FEZF1 YY1 ZNF121 ZNF366 ZSCAN5C ZNF362 ZNF680 OVOL3 ZEB2 | CICP5 LOC105373106 DNAH14 GC01P224877 GC01M224863 |
| GH01G224880 | 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:
Regulatory Element Products
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:
-
- 1q42.12 by Ensembl
- 1q42.12 by Entrez Gene
- 1q42.12 by HGNC
DNAH14 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene 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
- 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};
Protein Expression for DNAH14 Gene
Post-translational modifications for DNAH14 Gene
Other Protein References for DNAH14 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
-
- NP_001138626.1
- NP_001336840.1
- NP_001336841.1
- NP_001364.1
- NP_659426.2
- XP_006711798.1
- XP_011542359.1
- XP_011542360.1
- XP_011542361.1
- XP_011542363.1
- XP_011542364.1
- XP_011542365.1
- XP_011542366.1
- XP_011542367.1
- XP_011542368.1
- XP_011542369.1
- XP_011542371.1
- XP_011542372.1
- XP_011542373.1
- XP_011542374.1
- XP_011542375.1
- XP_011542376.1
- XP_011542378.1
- XP_011542381.1
- XP_011542383.1
- XP_016855784.1
- XP_016855785.1
- XP_016855786.1
- XP_016855787.1
- XP_016855788.1
- XP_016855789.1
Antibody Products
- Novus Biologicals Antibodies for DNAH14
- Invitrogen Antibodies for DNAH14
- antibodies-online Antibodies for DNAH14: See all 16
- Search GeneTex for Antibodies for DNAH14
Protein Products
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- Search GeneTex for Proteins for DNAH14
Assay Products
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
Graphical View of Domain Structure for InterPro Entry
Q0VDD8UniProtKB/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.
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).
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0003774 | motor activity | IEA | -- |
| GO:0003777 | microtubule motor activity | IEA | -- |
| GO:0005524 | ATP binding | IEA | -- |
Phenotypes for DNAH14 Gene
- GenomeRNAi human phenotypes for DNAH14:
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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.
| Compartment | Confidence |
|---|---|
| plasma membrane | 3 |
| cytoskeleton | 3 |
| cytosol | 3 |
| endoplasmic reticulum | 2 |
| 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 | -- |
Pathways & Interactions for DNAH14 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins. | ||
Pathways by source for DNAH14 Gene
1 KEGG pathway for DNAH14 Gene
Interacting Proteins for DNAH14 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0007018 | microtubule-based movement | IEA | -- |
No data available for SIGNOR curated interactions for DNAH14 Gene
Transcripts for DNAH14 Gene
mRNA/cDNA for DNAH14 Gene
- (31) REFSEQ mRNAs :
- (6) Additional mRNA sequences :
- (28) Selected AceView cDNA sequences:
- (19) Ensembl transcripts including schematic representations, and UCSC links where relevant :
Unigene Clusters for DNAH14 Gene
CRISPR Products
-
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-
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miRNA Products
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Inhibitory RNA Products
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-
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Expression 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).
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:
DNAH14SOURCE GeneReport for Unigene cluster for DNAH14 Gene:
Hs.133977Primer Products
-
OriGene qPCR primer pairs for DNAH14
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OriGene qPCR primer pairs and template standards for DNAH14
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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | DNAH14 34 35 |
|
||
| cow (Bos Taurus) |
Mammalia | DNAH14 34 |
|
||
| dog (Canis familiaris) |
Mammalia | DNAH14 34 |
|
||
| mouse (Mus musculus) |
Mammalia | Dnah14 34 16 |
|
||
| platypus (Ornithorhynchus anatinus) |
Mammalia | DNAH14 35 |
|
OneToOne | |
| oppossum (Monodelphis domestica) |
Mammalia | DNAH14 35 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | DNAH14 35 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | dnah14 34 |
|
- 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)
Paralogs for DNAH14 Gene
(16) SIMAP similar genes for DNAH14 Gene using alignment to 11 proteins:
No data available for Paralogs for DNAH14 Gene
Variants 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 | |
| rs1000000294 | -- | 225,208,987(+) | GTCCA(C/T)GAATG | intron-variant | |
| rs1000004991 | -- | 225,396,297(+) | ACAAC(-/G)TAAGG | intron-variant | |
| rs1000011449 | -- | 225,172,669(+) | ATATC(A/G)TGCAA | intron-variant | |
| rs1000016970 | -- | 224,962,909(+) | AAATG(C/G)TAATT | intron-variant |
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
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for DNAH14 Gene
Disorders for DNAH14 Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| communicating hydrocephalus |
|
|
Search DNAH14 in MalaCards
View complete list of genes associated with diseases
Relevant External Links for DNAH14
- Atlas of Genetics and Cytogenetics in Oncology and Haematology:
- DNAH14
No data available for UniProtKB/Swiss-Prot and Genatlas for DNAH14 Gene
Publications for DNAH14 Gene
- Multiple mouse chromosomal loci for dynein-based motility. (PMID: 8812413) Vaughan K.T. … Vallee R.B. (Genomics 1996) 2 3 64
- Identification of novel mutations in endometrial cancer patients by whole-exome sequencing. (PMID: 28339086) Chang Y.S. … Chang J.G. (Int. J. Oncol. 2017) 3 64
- The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3 64
- Identification of embryonic lethal genes in humans by autozygosity mapping and exome sequencing in consanguineous families. (PMID: 26036949) Shamseldin H.E. … Alkuraya F.S. (Genome Biol. 2015) 3 64
- 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
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Sources for DNAH14 Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) GO
- (12) TrEMBL
- (13) InterPro
- (14) ProtoNet
- (15) Blocks
- (16) MGI
- (17) IUBMB
- (18) KEGG
- (19) MINT
- (20) STRING
- (21) IntAct
- (22) Novoseek
- (23) PharmGKB
- (24) DrugBank
- (25) HMDB
- (26) UniGene
- (27) AceView
- (28) RNAdb
- (29) ASD
- (30) ECgene
- (31) GeneAnnot
- (32) CGAP SAGE
- (33) SOURCE
- (34) HomoloGene
- (35) PanEnsembl
- (36) euGenes
- (37) SGD
- (38) FlyBase
- (39) WormBase
- (40) Pseudogene
- (41) DGV
- (42) dbSNP
- (43) GenAtlas
- (44) GeneTests
- (45) HGMD
- (46) GAD
- (47) LSDB
- (48) BGMUT
- (49) HuGE
- (50) eBioscience
- (51) Atlas
- (52) Cell Signaling Technology
- (53) GenBank
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