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Aliases for DYNC1H1 Gene

Aliases for DYNC1H1 Gene

  • Dynein, Cytoplasmic 1, Heavy Chain 1 2 3
  • DNECL 3 4 6
  • DNCL 3 4 6
  • Dynein, Cytoplasmic, Heavy Polypeptide 1 2 3
  • Dynein Heavy Chain, Cytosolic 3 4
  • SMALED1 3 6
  • DNCH1 3 4
  • DHC1 3 4
  • DYHC 3 4
  • Cytoplasmic Dynein 1 Heavy Chain 1 3
  • Cytoplasmic Dynein Heavy Chain 1 4
  • KIAA0325 4
  • Dnchc1 3
  • DHC1a 3
  • CMT20 6
  • MRD13 6
  • HL-3 3
  • P22 3

External Ids for DYNC1H1 Gene

Previous HGNC Symbols for DYNC1H1 Gene

  • DNECL
  • DNCL
  • DNCH1

Previous GeneCards Identifiers for DYNC1H1 Gene

  • GC14P101501
  • GC14P101502
  • GC14P102430
  • GC14P082609

Summaries for DYNC1H1 Gene

Entrez Gene Summary for DYNC1H1 Gene

  • Dyneins are a group of microtubule-activated ATPases that function as molecular motors. They are divided into two subgroups of axonemal and cytoplasmic dyneins. The cytoplasmic dyneins function in intracellular motility, including retrograde axonal transport, protein sorting, organelle movement, and spindle dynamics. Molecules of conventional cytoplasmic dynein are comprised of 2 heavy chain polypeptides and a number of intermediate and light chains.This gene encodes a member of the cytoplasmic dynein heavy chain family. [provided by RefSeq, Oct 2008]

GeneCards Summary for DYNC1H1 Gene

DYNC1H1 (Dynein, Cytoplasmic 1, Heavy Chain 1) is a Protein Coding gene. Diseases associated with DYNC1H1 include mental retardation, autosomal dominant 13 and charcot-marie-tooth disease, axonal, type 20. Among its related pathways are Class I MHC mediated antigen processing and presentation and Cell Cycle, Mitotic. GO annotations related to this gene include microtubule motor activity and ATPase activity, coupled. An important paralog of this gene is DNAH1.

UniProtKB/Swiss-Prot for DYNC1H1 Gene

  • Cytoplasmic dynein 1 acts as a motor for the intracellular retrograde motility of vesicles and organelles along microtubules. Dynein has ATPase activity; the force-producing power stroke is thought to occur on release of ADP

Gene Wiki entry for DYNC1H1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for DYNC1H1 Gene

Genomics for DYNC1H1 Gene

Regulatory Elements for DYNC1H1 Gene

Genomic Location for DYNC1H1 Gene

Start:
101,964,528 bp from pter
End:
102,050,798 bp from pter
Size:
86,271 bases
Orientation:
Plus strand

Genomic View for DYNC1H1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for DYNC1H1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DYNC1H1 Gene

Proteins for DYNC1H1 Gene

  • Protein details for DYNC1H1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q14204-DYHC1_HUMAN
    Recommended name:
    Cytoplasmic dynein 1 heavy chain 1
    Protein Accession:
    Q14204
    Secondary Accessions:
    • B0I1R0
    • Q6DKQ7
    • Q8WU28
    • Q92814
    • Q9Y4G5

    Protein attributes for DYNC1H1 Gene

    Size:
    4646 amino acids
    Molecular mass:
    532408 Da
    Quaternary structure:
    • Homodimer. The cytoplasmic dynein 1 complex consists of two catalytic heavy chains (HCs) and a number of non-catalytic subunits presented by intermediate chains (ICs), light intermediate chains (LICs) and light chains (LCs); the composition seems to vary in respect to the IC, LIC and LC composition. The heavy chain homodimer serves as a scaffold for the probable homodimeric assembly of the respective non-catalytic subunits. The ICs and LICs bind directly to the HC dimer and dynein LCs assemble on the IC dimer. Interacts with DYNC1LI1; DYNC1LI1 and DYNC1LI2 bind mutually exclusive to DYNC1H1. Interacts with DYNC1LI2; DYNC1LI1 and DYNC1LI2 bind mutually exclusive to DYNC1H1. Interacts with DYNC1I2 (By similarity). Interacts with BICD2.
    SequenceCaution:
    • Sequence=BAA20783.3; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for DYNC1H1 Gene

neXtProt entry for DYNC1H1 Gene

Proteomics data for DYNC1H1 Gene at MOPED

Post-translational modifications for DYNC1H1 Gene

  • Ubiquitination at Lys67, Lys394, Lys652, Lys748, Lys754, Lys1347, Lys1371, Lys2068, Lys2074, Lys2856, Lys2879, Lys3190, Lys3369, Lys3581, Lys3621, Lys3757, Lys3774, and Lys4237
  • Modification sites at PhosphoSitePlus

Other Protein References for DYNC1H1 Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

No data available for DME Specific Peptides for DYNC1H1 Gene

Domains for DYNC1H1 Gene

Gene Families for DYNC1H1 Gene

HGNC:
  • DYN :Cytoplasmic dyneins

Suggested Antigen Peptide Sequences for DYNC1H1 Gene

Graphical View of Domain Structure for InterPro Entry

Q14204

UniProtKB/Swiss-Prot:

DYHC1_HUMAN :
  • Q14204
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
Family:
  • Belongs to the dynein heavy chain family.
genes like me logo Genes that share domains with DYNC1H1: view

Function for DYNC1H1 Gene

Molecular function for DYNC1H1 Gene

UniProtKB/Swiss-Prot Function: Cytoplasmic dynein 1 acts as a motor for the intracellular retrograde motility of vesicles and organelles along microtubules. Dynein has ATPase activity; the force-producing power stroke is thought to occur on release of ADP

Gene Ontology (GO) - Molecular Function for DYNC1H1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003777 microtubule motor activity IEA --
GO:0005515 protein binding IPI 17043677
GO:0005524 ATP binding IEA --
GO:0016887 ATPase activity IEA --
GO:0044822 poly(A) RNA binding IDA 22658674
genes like me logo Genes that share ontologies with DYNC1H1: view
genes like me logo Genes that share phenotypes with DYNC1H1: view

Animal Models for DYNC1H1 Gene

MGI Knock Outs for DYNC1H1:

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting and HOMER Transcription for DYNC1H1 Gene

Localization for DYNC1H1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for DYNC1H1 Gene

Cytoplasm, cytoskeleton.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for DYNC1H1 Gene COMPARTMENTS Subcellular localization image for DYNC1H1 gene
Compartment Confidence
cytoskeleton 5
extracellular 5
cytosol 4
golgi apparatus 4
nucleus 2
endosome 1

Gene Ontology (GO) - Cellular Components for DYNC1H1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm --
GO:0005813 centrosome IDA 21399614
GO:0005829 cytosol TAS --
GO:0005868 cytoplasmic dynein complex NAS 8666668
GO:0005874 microtubule IDA 21525035
genes like me logo Genes that share ontologies with DYNC1H1: view

Pathways for DYNC1H1 Gene

genes like me logo Genes that share pathways with DYNC1H1: view

Gene Ontology (GO) - Biological Process for DYNC1H1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000086 G2/M transition of mitotic cell cycle TAS --
GO:0000278 mitotic cell cycle TAS --
GO:0006200 obsolete ATP catabolic process --
GO:0006810 transport IEA --
GO:0006996 organelle organization TAS --
genes like me logo Genes that share ontologies with DYNC1H1: view

Compounds for DYNC1H1 Gene

(1) Novoseek inferred chemical compound relationships for DYNC1H1 Gene

Compound -log(P) Hits PubMed IDs
atp 23.7 2
genes like me logo Genes that share compounds with DYNC1H1: view

Transcripts for DYNC1H1 Gene

Unigene Clusters for DYNC1H1 Gene

Dynein, cytoplasmic 1, heavy chain 1:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for DYNC1H1 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6a · 6b ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14a · 14b ^ 15 ^ 16a · 16b ^ 17 ^ 18 ^ 19 ^ 20 ^ 21 ^ 22 ^
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SP18:

ExUns: 23 ^ 24 ^ 25 ^ 26 ^ 27 ^ 28 ^ 29 ^ 30a · 30b · 30c ^ 31 ^ 32 ^ 33 ^ 34 ^ 35 ^ 36 ^ 37 ^ 38a · 38b ^ 39 ^ 40 ^ 41 ^ 42 ^ 43 ^ 44 ^ 45 ^
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SP18:

ExUns: 46 ^ 47 ^ 48 ^ 49 ^ 50 ^ 51 ^ 52 ^ 53 ^ 54 ^ 55 ^ 56 ^ 57 ^ 58a · 58b ^ 59 ^ 60 ^ 61a · 61b ^ 62 ^ 63a · 63b · 63c ^ 64a · 64b ^ 65 ^ 66 ^
SP1: - -
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SP7: - - -
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SP17:
SP18:

ExUns: 67 ^ 68 ^ 69 ^ 70 ^ 71a · 71b ^ 72 ^ 73 ^ 74 ^ 75 ^ 76 ^ 77a · 77b · 77c ^ 78a · 78b ^ 79 ^ 80 ^ 81 ^
SP1: - - - -
SP2:
SP3:
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SP5:
SP6: -
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SP17:
SP18:

Relevant External Links for DYNC1H1 Gene

GeneLoc Exon Structure for
DYNC1H1
ECgene alternative splicing isoforms for
DYNC1H1

Expression for DYNC1H1 Gene

mRNA expression in normal human tissues for DYNC1H1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for DYNC1H1 Gene

SOURCE GeneReport for Unigene cluster for DYNC1H1 Gene Hs.614080

genes like me logo Genes that share expressions with DYNC1H1: view

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for DYNC1H1 Gene

Orthologs for DYNC1H1 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for DYNC1H1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia DYNC1H1 35
  • 99.46 (n)
  • 99.91 (a)
DYNC1H1 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia DYNC1H1 35
  • 87.97 (n)
  • 99.03 (a)
DYNC1H1 36
  • 99 (a)
OneToOne
dog
(Canis familiaris)
Mammalia DYNC1H1 35
  • 90.32 (n)
  • 99.25 (a)
DYNC1H1 36
  • 99 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Dync1h1 35
  • 88.58 (n)
  • 99.2 (a)
Dync1h1 16
Dync1h1 36
  • 99 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia DYNC1H1 36
  • 98 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia DYNC1H1 36
  • 98 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Dync1h1 35
  • 88.3 (n)
  • 98.94 (a)
chicken
(Gallus gallus)
Aves DYNC1H1 35
  • 82.05 (n)
  • 97.45 (a)
DYNC1H1 36
  • 97 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia DYNC1H1 36
  • 97 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.2053 35
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.11482 35
zebrafish
(Danio rerio)
Actinopterygii dync1h1 35
  • 78.67 (n)
  • 91.12 (a)
DYNC1H1 36
  • 85 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP002015 35
  • 66.29 (n)
  • 72.77 (a)
fruit fly
(Drosophila melanogaster)
Insecta Dhc64C 35
  • 66.28 (n)
  • 72.6 (a)
Dhc64C 36
  • 72 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea dhc-1 35
  • 58.09 (n)
  • 57.46 (a)
dhc-1 36
  • 56 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes DYN1 36
  • 30 (a)
OneToMany
DYN1 38
bread mold
(Neurospora crassa)
Ascomycetes NCU06976 35
  • 57.17 (n)
  • 54.05 (a)
Species with no ortholog for DYNC1H1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • 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 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)

Evolution for DYNC1H1 Gene

ENSEMBL:
Gene Tree for DYNC1H1 (if available)
TreeFam:
Gene Tree for DYNC1H1 (if available)

Paralogs for DYNC1H1 Gene

Selected SIMAP similar genes for DYNC1H1 Gene using alignment to 3 proteins:

genes like me logo Genes that share paralogs with DYNC1H1: view

Variants for DYNC1H1 Gene

Sequence variations from dbSNP and Humsavar for DYNC1H1 Gene

SNP ID Clin Chr 14 pos Sequence Context AA Info Type MAF
rs13749 Benign 102,047,890(+) GAGAC(C/T)GAGAA synonymous-codon, reference
rs13901 -- 102,050,753(+) GGCCA(A/G)TGGCG utr-variant-3-prime
rs754598 -- 102,032,895(-) AAAAT(A/G)TGCTC intron-variant
rs941632 -- 102,035,651(+) TGGGT(A/G)GTCTT intron-variant
rs941792 -- 102,048,376(-) CAGAG(C/T)GTGAC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for DYNC1H1 Gene

Variant ID Type Subtype PubMed ID
nsv902254 CNV Loss 21882294
esv2749148 CNV Deletion 23290073
dgv25n68 CNV Loss 17160897
nsv1427 CNV Insertion 18451855
nsv832879 CNV Loss 17160897

Relevant External Links for DYNC1H1 Gene

HapMap Linkage Disequilibrium report
DYNC1H1
Human Gene Mutation Database (HGMD)
DYNC1H1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for DYNC1H1 Gene

Disorders for DYNC1H1 Gene

(3) OMIM Diseases for DYNC1H1 Gene (600112)

UniProtKB/Swiss-Prot

DYHC1_HUMAN
  • Charcot-Marie-Tooth disease 2O (CMT2O) [MIM:614228]: An axonal form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies (CMT2). Neuropathies of the CMT2 group are characterized by signs of axonal degeneration in the absence of obvious myelin alterations, normal or slightly reduced nerve conduction velocities, and progressive distal muscle weakness and atrophy. Nerve conduction velocities are normal or slightly reduced. {ECO:0000269 PubMed:21820100, ECO:0000269 PubMed:24307404, ECO:0000269 PubMed:25512093}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Mental retardation, autosomal dominant 13 (MRD13) [MIM:614563]: A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRD13 is associated with variable neuronal migration defects and mild dysmorphic features. Some patients may also show signs of peripheral neuropathy, such as abnormal gait and hyporeflexia. {ECO:0000269 PubMed:21076407, ECO:0000269 PubMed:22368300, ECO:0000269 PubMed:23033978, ECO:0000269 PubMed:23603762}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Spinal muscular atrophy, lower extremity-predominant 1, autosomal dominant (SMALED1) [MIM:158600]: A form of spinal muscular atrophy, a neuromuscular disorder characterized by degeneration of the anterior horn cells of the spinal cord, leading to symmetrical muscle weakness and atrophy. SMALED1 is characterized by muscle weakness predominantly affecting the proximal lower extremities. {ECO:0000269 PubMed:22459677, ECO:0000269 PubMed:22847149, ECO:0000269 PubMed:25512093}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(1) University of Copenhagen DISEASES for DYNC1H1 Gene

(1) Novoseek inferred disease relationships for DYNC1H1 Gene

Disease -log(P) Hits PubMed IDs
neurodegeneration 20.6 2

Relevant External Links for DYNC1H1

Genetic Association Database (GAD)
DYNC1H1
Human Genome Epidemiology (HuGE) Navigator
DYNC1H1
genes like me logo Genes that share disorders with DYNC1H1: view

Publications for DYNC1H1 Gene

  1. Cytoplasmic dynein plays a role in mammalian mitotic spindle formation. (PMID: 8227145) Vaisberg E.A. … McIntosh J.R. (J. Cell Biol. 1993) 3 4 23
  2. No association of DYNC1H1 with sporadic ALS in a case-control study of a northern European derived population: a tagging SNP approach. (PMID: 16546759) Shah P.R. … Fisher E.M. (Amyotroph Lateral Scler 2006) 3 23 48
  3. Mammalian cells express three distinct dynein heavy chains that are localized to different cytoplasmic organelles. (PMID: 8666668) Vaisberg E.A. … McIntosh J.R. (J. Cell Biol. 1996) 2 3 4
  4. Localization of the human cytoplasmic dynein heavy chain (DNECL) to 14qter by fluorescence in situ hybridization. (PMID: 8001984) Narayan D. … Ward D.C. (Genomics 1994) 3 23
  5. Role of cytoplasmic dynein in perinuclear aggregation of phagocytosed melanosomes and supranuclear melanin cap formation in human keratinocytes. (PMID: 14632200) Byers H.R. … Dykstra S.G. (J. Invest. Dermatol. 2003) 3 23

Products for DYNC1H1 Gene

  • antibodies-online proteins for DYNC1H1
  • antibodies-online antibodies for DYNC1H1
  • antibodies-online kits for DYNC1H1

Sources for DYNC1H1 Gene

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