This gene encodes the largest subunit of dynactin, a macromolecular complex consisting of 10 subunits ranging in size from 22 to 150 kD. Dynactin binds to both microtubules and cytoplasmic dynein. Dynactin is involved in a diverse array of cellular functions, including ER-to-Golgi transport, the centripetal movement of lysosomes and endosomes, spindle formation, chromosome move... See more...

Aliases for DCTN1 Gene

Aliases for DCTN1 Gene

  • Dynactin Subunit 1 2 3 4 5
  • 150 KDa Dynein-Associated Polypeptide 3 4
  • DAP-150 3 4
  • DP-150 3 4
  • P135 3 4
  • Dynactin 1 (P150, Glued (Drosophila) Homolog) 2
  • Dynactin 1 (P150, Glued Homolog, Drosophila) 3
  • P150 Glued Homolog (Drosophila) 2
  • P150-Glued 4

External Ids for DCTN1 Gene

Previous GeneCards Identifiers for DCTN1 Gene

  • GC02M074577
  • GC02M074652
  • GC02M074396
  • GC02M074413
  • GC02M074562
  • GC02M074350
  • GC02M074499
  • GC02M074441
  • GC02M074588

Summaries for DCTN1 Gene

Entrez Gene Summary for DCTN1 Gene

  • This gene encodes the largest subunit of dynactin, a macromolecular complex consisting of 10 subunits ranging in size from 22 to 150 kD. Dynactin binds to both microtubules and cytoplasmic dynein. Dynactin is involved in a diverse array of cellular functions, including ER-to-Golgi transport, the centripetal movement of lysosomes and endosomes, spindle formation, chromosome movement, nuclear positioning, and axonogenesis. This subunit interacts with dynein intermediate chain by its domains directly binding to dynein and binds to microtubules via a highly conserved glycine-rich cytoskeleton-associated protein (CAP-Gly) domain in its N-terminus. Alternative splicing of this gene results in multiple transcript variants encoding distinct isoforms. Mutations in this gene cause distal hereditary motor neuronopathy type VIIB (HMN7B) which is also known as distal spinal and bulbar muscular atrophy (dSBMA). [provided by RefSeq, Oct 2008]

GeneCards Summary for DCTN1 Gene

DCTN1 (Dynactin Subunit 1) is a Protein Coding gene. Diseases associated with DCTN1 include Perry Syndrome and Neuronopathy, Distal Hereditary Motor, Type Viib. Among its related pathways are Vesicle-mediated transport and Transport to the Golgi and subsequent modification. Gene Ontology (GO) annotations related to this gene include motor activity and cofactor binding. An important paralog of this gene is ENSG00000264324.

UniProtKB/Swiss-Prot Summary for DCTN1 Gene

  • Plays a key role in dynein-mediated retrograde transport of vesicles and organelles along microtubules by recruiting and tethering dynein to microtubules. Binds to both dynein and microtubules providing a link between specific cargos, microtubules and dynein. Essential for targeting dynein to microtubule plus ends, recruiting dynein to membranous cargos and enhancing dynein processivity (the ability to move along a microtubule for a long distance without falling off the track). Can also act as a brake to slow the dynein motor during motility along the microtubule (PubMed:25185702). Can regulate microtubule stability by promoting microtubule formation, nucleation and polymerization and by inhibiting microtubule catastrophe in neurons. Inhibits microtubule catastrophe by binding both to microtubules and to tubulin, leading to enhanced microtubule stability along the axon (PubMed:23874158). Plays a role in metaphase spindle orientation (PubMed:22327364). Plays a role in centriole cohesion and subdistal appendage organization and function. Its recruitement to the centriole in a KIF3A-dependent manner is essential for the maintenance of centriole cohesion and the formation of subdistal appendage. Also required for microtubule anchoring at the mother centriole (PubMed:23386061). Plays a role in primary cilia formation (PubMed:25774020).

Gene Wiki entry for DCTN1 Gene

Additional gene information for DCTN1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for DCTN1 Gene

Genomics for DCTN1 Gene

GeneHancer (GH) Regulatory Elements for DCTN1 Gene

Promoters and enhancers for DCTN1 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 DCTN1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the DCTN1 gene promoter:
  • E2F
  • E2F-1
  • E2F-2
  • E2F-3a
  • E2F-4
  • FAC1

Genomic Locations for DCTN1 Gene

Genomic Locations for DCTN1 Gene
chr2:74,361,154-74,392,087
(GRCh38/hg38)
Size:
30,934 bases
Orientation:
Minus strand
chr2:74,588,281-74,619,214
(GRCh37/hg19)
Size:
30,934 bases
Orientation:
Minus strand

Genomic View for DCTN1 Gene

Genes around DCTN1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
DCTN1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for DCTN1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DCTN1 Gene

Proteins for DCTN1 Gene

  • Protein details for DCTN1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q14203-DCTN1_HUMAN
    Recommended name:
    Dynactin subunit 1
    Protein Accession:
    Q14203
    Secondary Accessions:
    • A8MY36
    • B4DM45
    • E9PFS5
    • E9PGE1
    • G5E9H4
    • O95296
    • Q6IQ37
    • Q9BRM9
    • Q9UIU1
    • Q9UIU2

    Protein attributes for DCTN1 Gene

    Size:
    1278 amino acids
    Molecular mass:
    141695 Da
    Quaternary structure:
    • Monomer and homodimer (PubMed:23874158). Dynactin is a large macromolecular complex of at least 10 components; p150(glued) binds directly to microtubules and to cytoplasmic dynein. Interacts with the C-terminus of MAPRE1, MAPRE2 and MAPRE3. Interacts (via C-terminus) with SNX6. Interacts with CLN3, DYNAP, ECPAS and FBXL5. Interacts with MISP; this interaction regulates its distribution at the cell cortex. Interacts with CEP131. Interacts with CEP126 (PubMed:24867236). Interacts with CLIP1 (PubMed:17828275, PubMed:17828277, PubMed:26972003, PubMed:20679239). Interacts with dynein intermediate chain and dynein heavy chain (PubMed:25185702). Interacts with PLK1 (via POLO-box domain) (PubMed:20679239). Interacts with TBCB (PubMed:22777741). Binds preferentially to tyrosinated microtubules than to detyrosinated microtubules (PubMed:26972003, PubMed:26968983). Interacts with PARD6A (PubMed:20719959). Interacts with HPS6 (PubMed:25189619). Interacts with KIF3A. Interacts with BICD2 (By similarity). Interacts with DST (isoform 9) (By similarity). Interacts with DST (isoform 1) (By similarity). Identified in a complex with MREG and RILP (By similarity). Interacts with BCCIP (isoform 2/alpha) (PubMed:28394342). Interacts with DCDC1 (PubMed:22159412). Interacts with AKNA (By similarity).

    Three dimensional structures from OCA and Proteopedia for DCTN1 Gene

    Alternative splice isoforms for DCTN1 Gene

neXtProt entry for DCTN1 Gene

Post-translational modifications for DCTN1 Gene

  • Ubiquitinated by a SCF complex containing FBXL5, leading to its degradation by the proteasome.
  • Phosphorylation by SLK at Thr-145, Thr-146 and Thr-147 targets DCTN1 to the centrosome. It is uncertain if SLK phosphorylates all three threonines or one or two of them. PLK1-mediated phosphorylation at Ser-179 is essential for its localization in the nuclear envelope, promotes its dissociation from microtubules during early mitosis and positively regulates nuclear envelope breakdown during prophase.
  • Ubiquitination at Lys1133, Lys1151, Lys1179, Lys1193, and Lys1235
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for DCTN1 Gene

Domains & Families for DCTN1 Gene

Gene Families for DCTN1 Gene

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

Protein Domains for DCTN1 Gene

Suggested Antigen Peptide Sequences for DCTN1 Gene

GenScript: Design optimal peptide antigens:
  • p150-glued (DCTN1_HUMAN)
  • DCTN1 protein (Q6IQ37_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q14203

UniProtKB/Swiss-Prot:

DCTN1_HUMAN :
  • The CAP-Gly domain is essential for interactions with microtubules and its binding partners and for its motion along the microtubules. Essential for its preferential binding to tyrosinated microtubules and for promoting the sustained interaction of the dynein motor with microtubules.
  • Belongs to the dynactin 150 kDa subunit family.
Domain:
  • The CAP-Gly domain is essential for interactions with microtubules and its binding partners and for its motion along the microtubules. Essential for its preferential binding to tyrosinated microtubules and for promoting the sustained interaction of the dynein motor with microtubules.
Family:
  • Belongs to the dynactin 150 kDa subunit family.
genes like me logo Genes that share domains with DCTN1: view

Function for DCTN1 Gene

Molecular function for DCTN1 Gene

UniProtKB/Swiss-Prot Function:
Plays a key role in dynein-mediated retrograde transport of vesicles and organelles along microtubules by recruiting and tethering dynein to microtubules. Binds to both dynein and microtubules providing a link between specific cargos, microtubules and dynein. Essential for targeting dynein to microtubule plus ends, recruiting dynein to membranous cargos and enhancing dynein processivity (the ability to move along a microtubule for a long distance without falling off the track). Can also act as a brake to slow the dynein motor during motility along the microtubule (PubMed:25185702). Can regulate microtubule stability by promoting microtubule formation, nucleation and polymerization and by inhibiting microtubule catastrophe in neurons. Inhibits microtubule catastrophe by binding both to microtubules and to tubulin, leading to enhanced microtubule stability along the axon (PubMed:23874158). Plays a role in metaphase spindle orientation (PubMed:22327364). Plays a role in centriole cohesion and subdistal appendage organization and function. Its recruitement to the centriole in a KIF3A-dependent manner is essential for the maintenance of centriole cohesion and the formation of subdistal appendage. Also required for microtubule anchoring at the mother centriole (PubMed:23386061). Plays a role in primary cilia formation (PubMed:25774020).
GENATLAS Biochemistry:
dynactin 1,component of a large macromolecular complex required for the cytoplasmic dynein-driven movement of organelles along microtubules,homologous to Drosophila glued

Phenotypes From GWAS Catalog for DCTN1 Gene

Gene Ontology (GO) - Molecular Function for DCTN1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003774 motor activity IEA --
GO:0005515 protein binding IPI 9361024
GO:0008017 microtubule binding IMP,IEA 16505168
GO:0015631 tubulin binding IDA 23874158
GO:0019901 protein kinase binding IPI 17139249
genes like me logo Genes that share ontologies with DCTN1: view
genes like me logo Genes that share phenotypes with DCTN1: view

Human Phenotype Ontology for DCTN1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for DCTN1 Gene

MGI Knock Outs for DCTN1:
  • Dctn1 Dctn1<tm1a(EUCOMM)Wtsi>
  • Dctn1 Dctn1<tm1.1Cai>

Animal Model Products

CRISPR Products

miRNA for DCTN1 Gene

Clone Products

  • Addgene plasmids for DCTN1

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for DCTN1 Gene

Localization for DCTN1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for DCTN1 Gene

Cytoplasm. Cytoplasm, cytoskeleton. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome, centriole. Cytoplasm, cytoskeleton, spindle. Nucleus envelope. Cytoplasm, cell cortex. Note=Localizes to microtubule plus ends (PubMed:17828277, PubMed:22777741, PubMed:25774020). Localizes preferentially to the ends of tyrosinated microtubules (PubMed:26972003). Localization at centrosome is regulated by SLK-dependent phosphorylation (PubMed:23985322). Localizes to centrosome in a PARKDA-dependent manner (PubMed:20719959). Localizes to the subdistal appendage region of the centriole in a KIF3A-dependent manner (PubMed:23386061). PLK1-mediated phosphorylation at Ser-179 is essential for its localization in the nuclear envelope (PubMed:20679239). {ECO:0000269 PubMed:17828277, ECO:0000269 PubMed:20679239, ECO:0000269 PubMed:20719959, ECO:0000269 PubMed:22777741, ECO:0000269 PubMed:23386061, ECO:0000269 PubMed:23985322, ECO:0000269 PubMed:25774020, ECO:0000269 PubMed:26972003}.

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 DCTN1 gene
Compartment Confidence
cytoskeleton 5
nucleus 5
cytosol 5
plasma membrane 2
endosome 1
lysosome 1
golgi apparatus 1
endoplasmic reticulum 0

Subcellular locations from the

Human Protein Atlas (HPA)
  • Centrosome (3)
  • Cytosol (3)
  • Intermediate filaments (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for DCTN1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000776 kinetochore IDA 19468067
GO:0000922 spindle pole IDA 14718566
GO:0005634 nucleus IEA --
GO:0005635 nuclear envelope IDA,IEA 20679239
GO:0005737 cytoplasm TAS,IDA 18305234
genes like me logo Genes that share ontologies with DCTN1: view

Pathways & Interactions for DCTN1 Gene

genes like me logo Genes that share pathways with DCTN1: view

Pathways by source for DCTN1 Gene

1 Qiagen pathway for DCTN1 Gene
  • Huntington's Disease Pathway
3 Cell Signaling Technology pathways for DCTN1 Gene

SIGNOR curated interactions for DCTN1 Gene

Is activated by:

Gene Ontology (GO) - Biological Process for DCTN1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000086 G2/M transition of mitotic cell cycle TAS --
GO:0000132 establishment of mitotic spindle orientation IEA,IMP 22327364
GO:0000278 mitotic cell cycle NAS 1828535
GO:0006888 ER to Golgi vesicle-mediated transport TAS --
GO:0007049 cell cycle IEA --
genes like me logo Genes that share ontologies with DCTN1: view

Drugs & Compounds for DCTN1 Gene

(1) Drugs for DCTN1 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
genes like me logo Genes that share compounds with DCTN1: view

Transcripts for DCTN1 Gene

CRISPR Products

Clone Products

  • Addgene plasmids for DCTN1

Alternative Splicing Database (ASD) splice patterns (SP) for DCTN1 Gene

No ASD Table

Relevant External Links for DCTN1 Gene

GeneLoc Exon Structure for
DCTN1
ECgene alternative splicing isoforms for
DCTN1

Expression for DCTN1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for DCTN1 Gene

Protein differential expression in normal tissues from HIPED for DCTN1 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (7.7) and Frontal cortex (6.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for DCTN1 Gene



Protein tissue co-expression partners for DCTN1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of DCTN1 Gene:

DCTN1

SOURCE GeneReport for Unigene cluster for DCTN1 Gene:

Hs.516111

mRNA Expression by UniProt/SwissProt for DCTN1 Gene:

Q14203-DCTN1_HUMAN
Tissue specificity: Brain.

Evidence on tissue expression from TISSUES for DCTN1 Gene

  • Nervous system(5)
  • Liver(4.5)
  • Lung(3.6)
  • Intestine(3.3)
  • Eye(2.9)
  • Heart(2.9)
  • Blood(2.7)
  • Skin(2.7)
  • Stomach(2.1)
  • Kidney(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for DCTN1 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • nervous
  • respiratory
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • cerebellum
  • cranial nerve
  • ear
  • epiglottis
  • face
  • head
  • jaw
  • larynx
  • mandible
  • maxilla
  • mouth
  • neck
  • nose
  • pharynx
  • skull
  • tongue
  • vocal cord
Thorax:
  • bronchus
  • clavicle
  • diaphragm
  • esophagus
  • heart
  • lung
  • scapula
  • trachea
Abdomen:
  • biliary tract
  • liver
  • stomach
Limb:
  • arm
  • digit
  • finger
  • foot
  • forearm
  • hand
  • humerus
  • lower limb
  • shin
  • shoulder
  • thigh
  • toe
  • upper limb
General:
  • blood vessel
  • peripheral nerve
  • peripheral nervous system
  • spinal cord
genes like me logo Genes that share expression patterns with DCTN1: view

No data available for mRNA differential expression in normal tissues for DCTN1 Gene

Orthologs for DCTN1 Gene

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

Orthologs for DCTN1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia DCTN1 33 32
  • 99.66 (n)
OneToOne
dog
(Canis familiaris)
Mammalia DCTN1 33 32
  • 92.43 (n)
OneToOne
cow
(Bos Taurus)
Mammalia DCTN1 33 32
  • 91.29 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia DCTN1 33
  • 91 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Dctn1 17 33 32
  • 90.01 (n)
rat
(Rattus norvegicus)
Mammalia Dctn1 32
  • 89.98 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia DCTN1 33
  • 73 (a)
OneToOne
chicken
(Gallus gallus)
Aves DCTN1 33 32
  • 75.38 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia DCTN1 33
  • 81 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia dctn1 32
  • 74.97 (n)
Str.6794 32
African clawed frog
(Xenopus laevis)
Amphibia MGC68950 32
zebrafish
(Danio rerio)
Actinopterygii dctn1a 33
  • 72 (a)
OneToMany
dctn1b 32
  • 71.02 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP004194 32
  • 49.2 (n)
fruit fly
(Drosophila melanogaster)
Insecta Gl 33 34 32
  • 46.78 (n)
OneToMany
CG9279 33 34
  • 26 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea dnc-1 33 34
  • 26 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes NIP100 33
  • 15 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 33
  • 36 (a)
OneToOne
Species where no ortholog for DCTN1 was found in the sources mined by GeneCards:
  • 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)
  • 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)
  • 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 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 DCTN1 Gene

ENSEMBL:
Gene Tree for DCTN1 (if available)
TreeFam:
Gene Tree for DCTN1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for DCTN1: view image

Paralogs for DCTN1 Gene

Paralogs for DCTN1 Gene

(8) SIMAP similar genes for DCTN1 Gene using alignment to 11 proteins:

  • DCTN1_HUMAN
  • C9J1B7_HUMAN
  • C9JJD0_HUMAN
  • C9JJN7_HUMAN
  • C9JKG6_HUMAN
  • C9JTE5_HUMAN
  • C9JUI8_HUMAN
  • C9JZA4_HUMAN
  • E7EX90_HUMAN
  • E9PCY0_HUMAN
  • L8EA71_HUMAN
genes like me logo Genes that share paralogs with DCTN1: view

Variants for DCTN1 Gene

Sequence variations from dbSNP and Humsavar for DCTN1 Gene

SNP ID Clin Chr 02 pos Variation AA Info Type
rs1034996844 uncertain-significance, Amyotrophic lateral sclerosis type 1, Distal hereditary motor neuronopathy type 7B, Perry syndrome 74,370,491(-) C/T coding_sequence_variant, missense_variant, non_coding_transcript_variant
rs1040712616 uncertain-significance, Amyotrophic lateral sclerosis type 1, Distal hereditary motor neuronopathy type 7B, Perry syndrome 74,370,256(-) C/T coding_sequence_variant, missense_variant, non_coding_transcript_variant
rs1057518814 uncertain-significance, Dystonia, Generalized dystonia 74,371,601(-) G/A coding_sequence_variant, missense_variant, non_coding_transcript_variant
rs112725508 uncertain-significance, Amyotrophic lateral sclerosis type 1, Distal hereditary motor neuronopathy type 7B, Perry syndrome 74,371,556(-) G/A/C coding_sequence_variant, missense_variant, non_coding_transcript_variant
rs1130484 benign, likely-benign, not specified, Distal hereditary motor neuronopathy, Perry syndrome, Amyotrophic lateral sclerosis type 1, Distal hereditary motor neuronopathy type 7B, not provided 74,366,801(-) T/C coding_sequence_variant, non_coding_transcript_variant, synonymous_variant

Structural Variations from Database of Genomic Variants (DGV) for DCTN1 Gene

Variant ID Type Subtype PubMed ID
esv25070 CNV gain 19812545
esv2759061 CNV loss 17122850
nsv2784 CNV deletion 18451855
nsv458185 CNV loss 19166990
nsv515851 CNV loss 19592680
nsv582214 CNV loss 21841781
nsv820134 CNV loss 19587683
nsv834261 CNV loss 17160897

Variation tolerance for DCTN1 Gene

Residual Variation Intolerance Score: 2.54% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.55; 64.92% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for DCTN1 Gene

Human Gene Mutation Database (HGMD)
DCTN1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
DCTN1

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for DCTN1 Gene

Disorders for DCTN1 Gene

MalaCards: The human disease database

(17) MalaCards diseases for DCTN1 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
perry syndrome
  • parkinsonism with alveolar hypoventilation and mental depression
neuronopathy, distal hereditary motor, type viib
  • harper-young myopathy
amyotrophic lateral sclerosis 1
  • als1
genetic motor neuron disease
  • genetic anterior horn cell disease
distal hereditary motor neuropathy type 7
  • dhmn7
- elite association - COSMIC cancer census association via MalaCards
Search DCTN1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

DCTN1_HUMAN
  • Neuronopathy, distal hereditary motor, 7B (HMN7B) [MIM:607641]: A neuromuscular disorder. Distal hereditary motor neuronopathies constitute a heterogeneous group of neuromuscular disorders caused by selective degeneration of motor neurons in the anterior horn of the spinal cord, without sensory deficit in the posterior horn. The overall clinical picture consists of a classical distal muscular atrophy syndrome in the legs without clinical sensory loss. The disease starts with weakness and wasting of distal muscles of the anterior tibial and peroneal compartments of the legs. Later on, weakness and atrophy may expand to the proximal muscles of the lower limbs and/or to the distal upper limbs. {ECO:0000269 PubMed:12627231, ECO:0000269 PubMed:16505168, ECO:0000269 PubMed:19136952, ECO:0000269 PubMed:19279216, ECO:0000269 PubMed:22777741}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Amyotrophic lateral sclerosis (ALS) [MIM:105400]: A neurodegenerative disorder affecting upper motor neurons in the brain and lower motor neurons in the brain stem and spinal cord, resulting in fatal paralysis. Sensory abnormalities are absent. The pathologic hallmarks of the disease include pallor of the corticospinal tract due to loss of motor neurons, presence of ubiquitin-positive inclusions within surviving motor neurons, and deposition of pathologic aggregates. The etiology of amyotrophic lateral sclerosis is likely to be multifactorial, involving both genetic and environmental factors. The disease is inherited in 5-10% of the cases. {ECO:0000269 PubMed:15326253, ECO:0000269 PubMed:16240349}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.
  • Perry syndrome (PERRYS) [MIM:168605]: A neuropsychiatric disorder characterized by mental depression not responsive to antidepressant drugs or electroconvulsive therapy, sleep disturbances, exhaustion and marked weight loss. Parkinsonism develops later and respiratory failure occurred terminally. {ECO:0000269 PubMed:19136952, ECO:0000269 PubMed:23874158, ECO:0000269 PubMed:24676999, ECO:0000269 PubMed:24881494, ECO:0000269 PubMed:25185702, ECO:0000269 PubMed:26972003}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for DCTN1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with DCTN1: view

No data available for Genatlas for DCTN1 Gene

Publications for DCTN1 Gene

  1. The p150 subunit of dynactin (DCTN1) gene in multiple sclerosis. (PMID: 17824900) Münch C … Hemmer B (Acta neurologica Scandinavica 2007) 3 4 23 43 56
  2. Point mutations of the p150 subunit of dynactin (DCTN1) gene in ALS. (PMID: 15326253) Münch C … Ludolph AC (Neurology 2004) 3 4 23 43 56
  3. Characterization of DCTN1 genetic variability in neurodegeneration. (PMID: 19506225) Vilariño-Güell C … Farrer MJ (Neurology 2009) 3 4 43 56
  4. FBXL5 interacts with p150Glued and regulates its ubiquitination. (PMID: 17532294) Zhang N … Yao X (Biochemical and biophysical research communications 2007) 3 4 23 56
  5. CLIP170 autoinhibition mimics intermolecular interactions with p150Glued or EB1. (PMID: 17828275) Hayashi I … Ikura M (Nature structural & molecular biology 2007) 3 4 23 56

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