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... See more...

Aliases for DYNC1H1 Gene

Aliases for DYNC1H1 Gene

  • Dynein Cytoplasmic 1 Heavy Chain 1 2 3 5
  • DHC1 2 3 4
  • Dynein, Cytoplasmic, Heavy Polypeptide 1 2 3
  • Cytoplasmic Dynein 1 Heavy Chain 1 3 4
  • Dynein Heavy Chain, Cytosolic 3 4
  • Dnchc1 2 3
  • CMT2O 2 3
  • DNCH1 3 4
  • DNECL 3 4
  • DNCL 3 4
  • DYHC 3 4
  • HL-3 2 3
  • P22 2 3
  • Cytoplasmic Dynein Heavy Chain 1 4
  • KIAA0325 4
  • SMALED1 3
  • DYNC1H1 5
  • DHC1a 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
  • GC14P101991
  • GC14P102057
  • GC14P103523
  • GC14P103754
  • GC14P103946
  • GC14P104308
  • GC14P102191
  • GC14P102285
  • GC14P102459
  • GC14P102631
  • GC14P102800
  • GC14P102977
  • GC14P103169
  • GC14P103361
  • GC14P104635
  • GC14P105011

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 Spinal Muscular Atrophy, Lower Extremity-Predominant, 1, Autosomal Dominant and Charcot-Marie-Tooth Disease, Axonal, Type 2O. Among its related pathways are Cell Cycle, Mitotic and Regulation of PLK1 Activity at G2/M Transition. Gene Ontology (GO) annotations related to this gene include microtubule motor activity. An important paralog of this gene is DNAH9.

UniProtKB/Swiss-Prot Summary 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. Plays a role in mitotic spindle assembly and metaphase plate congression (PubMed:27462074).

Gene Wiki entry for DYNC1H1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for DYNC1H1 Gene

Genomics for DYNC1H1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for DYNC1H1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around DYNC1H1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for DYNC1H1

Top Transcription factor binding sites by QIAGEN in the DYNC1H1 gene promoter:
  • Arnt
  • CBF(2)
  • CBF-A
  • CBF-B
  • CBF-C
  • CP1A
  • GR
  • GR-alpha
  • GR-beta
  • Pbx1a

Genomic Locations for DYNC1H1 Gene

Latest Assembly
chr14:101,964,573-102,056,443
(GRCh38/hg38)
Size:
91,871 bases
Orientation:
Plus strand

Previous Assembly
chr14:102,430,910-102,522,780
(GRCh37/hg19 by Entrez Gene)
Size:
91,871 bases
Orientation:
Plus strand

chr14:102,430,865-102,517,129
(GRCh37/hg19 by Ensembl)
Size:
86,265 bases
Orientation:
Plus strand

Genomic View for DYNC1H1 Gene

Genes around DYNC1H1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
DYNC1H1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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 (PubMed:25512093). Interacts with isoform 2 of CRACR2A (PubMed:31092558).
    SequenceCaution:
    • Sequence=BAA20783.3; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for DYNC1H1 Gene

neXtProt entry for DYNC1H1 Gene

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

No data available for DME Specific Peptides for DYNC1H1 Gene

Domains & Families for DYNC1H1 Gene

Gene Families for DYNC1H1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Plasma proteins
  • Predicted intracellular proteins

Protein Domains for DYNC1H1 Gene

InterPro:
Blocks:
  • Dynein heavy chain
  • ATPase associated with various cellular activities, AAA_5
  • Dynein heavy chain, N-terminal region 1

Suggested Antigen Peptide Sequences for DYNC1H1 Gene

GenScript: Design optimal peptide antigens:
  • Dynein heavy chain, cytosolic (DYHC1_HUMAN)
  • DYNC1H1 protein (Q6P2H7_HUMAN)
  • Dynein heavy chain (Q92862_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q14204

UniProtKB/Swiss-Prot:

DYHC1_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.
  • 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.
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. Plays a role in mitotic spindle assembly and metaphase plate congression (PubMed:27462074).

Phenotypes From GWAS Catalog for DYNC1H1 Gene

Gene Ontology (GO) - Molecular Function for DYNC1H1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IEA --
GO:0003723 RNA binding HDA 22658674
GO:0003774 motor activity IEA --
GO:0003777 microtubule motor activity IEA --
GO:0005515 protein binding IPI 17043677
genes like me logo Genes that share ontologies with DYNC1H1: view
genes like me logo Genes that share phenotypes with DYNC1H1: view

Human Phenotype Ontology for DYNC1H1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for DYNC1H1 Gene

MGI Knock Outs for DYNC1H1:

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for DYNC1H1

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets 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
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 DYNC1H1 gene
Compartment Confidence
cytoskeleton 5
cytosol 5
extracellular 4
lysosome 4
nucleus 3
mitochondrion 2
golgi apparatus 2
plasma membrane 1
peroxisome 1
endoplasmic reticulum 1
endosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Centrosome (3)
  • Cytosol (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for DYNC1H1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0005737 cytoplasm IEA --
GO:0005813 centrosome IDA 21399614
GO:0005829 cytosol TAS --
GO:0005856 cytoskeleton IEA --
genes like me logo Genes that share ontologies with DYNC1H1: view

Pathways & Interactions for DYNC1H1 Gene

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

Pathways by source for DYNC1H1 Gene

2 GeneGo (Thomson Reuters) pathways for DYNC1H1 Gene
  • Cell cycle_Spindle assembly and chromosome separation
  • Regulation of degradation of deltaF508 CFTR in CF

SIGNOR curated interactions for DYNC1H1 Gene

Is activated by:

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 IBA 21873635
GO:0006888 ER to Golgi vesicle-mediated transport TAS --
GO:0007018 microtubule-based movement IEA,IBA 21873635
GO:0007049 cell cycle IEA --
genes like me logo Genes that share ontologies with DYNC1H1: view

Drugs & Compounds for DYNC1H1 Gene

(1) Drugs for DYNC1H1 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
genes like me logo Genes that share compounds with DYNC1H1: view

Transcripts for DYNC1H1 Gene

mRNA/cDNA for DYNC1H1 Gene

1 REFSEQ mRNAs :
18 NCBI additional mRNA sequence :
63 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 DYNC1H1

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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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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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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SP18:

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

Relevant External Links for DYNC1H1 Gene

GeneLoc Exon Structure for
DYNC1H1

Expression for DYNC1H1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for DYNC1H1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for DYNC1H1 Gene

This gene is overexpressed in Fetal Brain (6.9), Frontal cortex (6.3), and Retina (6.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for DYNC1H1 Gene



Protein tissue co-expression partners for DYNC1H1 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for DYNC1H1

SOURCE GeneReport for Unigene cluster for DYNC1H1 Gene:

Hs.614080

Evidence on tissue expression from TISSUES for DYNC1H1 Gene

  • Eye(5)
  • Kidney(5)
  • Liver(5)
  • Lung(5)
  • Nervous system(5)
  • Blood(4.7)
  • Heart(4.6)
  • Intestine(4.1)
  • Pancreas(3.9)
  • Skin(3.9)
  • Adrenal gland(3.6)
  • Gall bladder(3.4)
  • Muscle(2.9)

Phenotype-based relationships between genes and organs from Gene ORGANizer for DYNC1H1 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • immune
  • integumentary
  • nervous
  • respiratory
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • cerebellum
  • chin
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • forehead
  • head
  • jaw
  • lip
  • mandible
  • maxilla
  • mouth
  • nose
  • outer ear
  • pharynx
  • skull
  • tooth
Thorax:
  • chest wall
  • heart
Abdomen:
  • abdominal wall
  • intestine
  • large intestine
Pelvis:
  • rectum
Limb:
  • arm
  • digit
  • finger
  • foot
  • forearm
  • hand
  • knee
  • lower limb
  • shin
  • thigh
  • toe
  • upper limb
General:
  • blood
  • blood vessel
  • hair
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal cord
  • white blood cell
genes like me logo Genes that share expression patterns with DYNC1H1: view

Primer products for research

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 29 30
  • 99.46 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia DYNC1H1 30
  • 98 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia DYNC1H1 30
  • 98 (a)
OneToOne
Dog
(Canis familiaris)
Mammalia DYNC1H1 29 30
  • 90.32 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Dync1h1 29 16 30
  • 88.58 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Dync1h1 29
  • 88.3 (n)
Cow
(Bos Taurus)
Mammalia DYNC1H1 29 30
  • 87.97 (n)
OneToOne
Chicken
(Gallus gallus)
Aves DYNC1H1 29 30
  • 82.05 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia DYNC1H1 30
  • 97 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.2053 29
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia Str.11482 29
Zebrafish
(Danio rerio)
Actinopterygii DYNC1H1 30
  • 85 (a)
OneToOne
dync1h1 29
  • 78.67 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP002015 29
  • 66.29 (n)
Fruit Fly
(Drosophila melanogaster)
Insecta Dhc64C 29 30
  • 66.28 (n)
OneToOne
Worm
(Caenorhabditis elegans)
Secernentea dhc-1 29 30
  • 58.09 (n)
OneToOne
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes DYN1 30 32
  • 30 (a)
OneToMany
Bread mold
(Neurospora crassa)
Ascomycetes NCU06976 29
  • 57.17 (n)
Species where no ortholog for DYNC1H1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 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)

Evolution for DYNC1H1 Gene

ENSEMBL:
Gene Tree for DYNC1H1 (if available)
TreeFam:
Gene Tree for DYNC1H1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for DYNC1H1: view image
Alliance of Genome Resources:
Additional Orthologs for DYNC1H1

Paralogs for DYNC1H1 Gene

(6) SIMAP similar genes for DYNC1H1 Gene using alignment to 3 proteins:

  • DYHC1_HUMAN
  • H0YJ21_HUMAN
  • Q6P2H7_HUMAN
genes like me logo Genes that share paralogs with DYNC1H1: view

Variants for DYNC1H1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for DYNC1H1 Gene

SNP ID Clinical significance and condition Chr 14 pos Variation AA Info Type
1001270 Uncertain Significance: Charcot-Marie-Tooth disease, axonal, type 2O 102,017,140(+) CT/C
NM_001376.5(DYNC1H1):c.7905del (p.Phe2635fs)
FRAMESHIFT
1001401 Uncertain Significance: Charcot-Marie-Tooth disease, axonal, type 2O 102,044,334(+) C/G
NM_001376.5(DYNC1H1):c.12745C>G (p.Gln4249Glu)
MISSENSE
1001447 Uncertain Significance: Charcot-Marie-Tooth disease, axonal, type 2O 102,026,589(+) G/C
NM_001376.5(DYNC1H1):c.8653G>C (p.Asp2885His)
MISSENSE
1002297 Uncertain Significance: Charcot-Marie-Tooth disease, axonal, type 2O 102,009,852(+) C/G
NM_001376.5(DYNC1H1):c.5987C>G (p.Pro1996Arg)
MISSENSE
1002335 Uncertain Significance: Charcot-Marie-Tooth disease, axonal, type 2O 102,048,562(+) A/C
NM_001376.5(DYNC1H1):c.13265A>C (p.Lys4422Thr)
MISSENSE

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for DYNC1H1 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 DYNC1H1 Gene

Variant ID Type Subtype PubMed ID
dgv25n68 CNV loss 17160897
esv2749148 CNV deletion 23290073
esv3552069 CNV deletion 23714750
esv3635538 CNV gain 21293372
nsv1427 CNV insertion 18451855
nsv565947 CNV gain 21841781
nsv832879 CNV loss 17160897
nsv976370 CNV duplication 23825009

Variation tolerance for DYNC1H1 Gene

Residual Variation Intolerance Score: 0.012% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.93; 74.47% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for DYNC1H1 Gene

Human Gene Mutation Database (HGMD)
DYNC1H1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
DYNC1H1
Leiden Open Variation Database (LOVD)
DYNC1H1

SNP Genotyping and Copy Number Assays for research

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

Disorders for DYNC1H1 Gene

MalaCards: The human disease database

(41) MalaCards diseases for DYNC1H1 Gene - From: OMI, CVR, GTR, ORP, SWI, COP, and GCD

- elite association - COSMIC cancer census association via MalaCards

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. {ECO:0000269 PubMed:21820100, ECO:0000269 PubMed:24307404, ECO:0000269 PubMed:25512093}. Note=The disease is caused by variants 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, ECO:0000269 PubMed:28193117}. Note=The disease is caused by variants 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:25484024, ECO:0000269 PubMed:25512093, ECO:0000269 PubMed:26846447, ECO:0000269 PubMed:28193117}. Note=The disease is caused by variants affecting the gene represented in this entry.

Additional Disease Information for DYNC1H1

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Publications for DYNC1H1 Gene

  1. Mutations in the tail domain of DYNC1H1 cause dominant spinal muscular atrophy. (PMID: 22459677) Harms MB … Baloh RH (Neurology 2012) 3 4 72
  2. Mutations in DYNC1H1 cause severe intellectual disability with neuronal migration defects. (PMID: 22368300) Willemsen MH … Kleefstra T (Journal of medical genetics 2012) 3 4 72
  3. A DYNC1H1 mutation causes a dominant spinal muscular atrophy with lower extremity predominance. (PMID: 22847149) Tsurusaki Y … Matsumoto N (Neurogenetics 2012) 3 4 72
  4. Exome sequencing identifies a DYNC1H1 mutation in a large pedigree with dominant axonal Charcot-Marie-Tooth disease. (PMID: 21820100) Weedon MN … Ellard S (American journal of human genetics 2011) 3 4 72
  5. 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 PR … Fisher EM (Amyotrophic lateral sclerosis : official publication of the World Federation of Neurology Research Group on Motor Neuron Diseases 2006) 3 22 40

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Sources for DYNC1H1 Gene