Human Gene DCTN1 (ENST00000409438.5) from GENCODE V44
Description: Homo sapiens dynactin subunit 1 (DCTN1), transcript variant 4, mRNA. (from RefSeq NM_001135041) RefSeq Summary (NM_001135041): 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]. Gencode Transcript: ENST00000409438.5 Gencode Gene: ENSG00000204843.13 Transcript (Including UTRs) Position: hg38 chr2:74,361,157-74,374,735 Size: 13,579 Total Exon Count: 26 Strand: - Coding Region Position: hg38 chr2:74,361,499-74,374,352 Size: 12,854 Coding Exon Count: 26
ID:DCTN1_HUMAN DESCRIPTION: RecName: Full=Dynactin subunit 1; AltName: Full=150 kDa dynein-associated polypeptide; AltName: Full=DAP-150; Short=DP-150; AltName: Full=p135; AltName: Full=p150-glued; FUNCTION: Required for the cytoplasmic dynein-driven retrograde movement of vesicles and organelles along microtubules. Dynein- dynactin interaction is a key component of the mechanism of axonal transport of vesicles and organelles. SUBUNIT: 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 with FBXL5. Interacts with ECM29. Interacts (via C-terminus) with SNX6. Interacts with CLIP1. Interacts with CLN3. INTERACTION: Q96RK4:BBS4; NbExp=3; IntAct=EBI-724352, EBI-1805814; SUBCELLULAR LOCATION: Cytoplasm. Cytoplasm, cytoskeleton. Note=Colocalizes with microtubules. TISSUE SPECIFICITY: Brain. PTM: Ubiquitinated by a SCF complex containing FBXL5, leading to its degradation by the proteasome. DISEASE: Defects in DCTN1 are the cause of distal hereditary motor neuronopathy type 7B (HMN7B) [MIM:607641]; also known as progressive lower motor neuron disease (PLMND). HMN7B is 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. DISEASE: Defects in DCTN1 are a cause of susceptibility to amyotrophic lateral sclerosis (ALS) [MIM:105400]. ALS is a neurodegenerative disorder affecting upper and lower motor neurons, and resulting in fatal paralysis. Sensory abnormalities are absent. Death usually occurs within 2 to 5 years. The etiology is likely to be multifactorial, involving both genetic and environmental factors. DISEASE: Defects in DCTN1 are the cause of Perry syndrome (PERRYS) [MIM:168605]; also called parkinsonism with alveolar hypoventilation and mental depression. Perry syndrome is 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. SIMILARITY: Belongs to the dynactin 150 kDa subunit family. SIMILARITY: Contains 1 CAP-Gly domain.
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on Q14203
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
Biological Process: GO:0000086 G2/M transition of mitotic cell cycle GO:0000132 establishment of mitotic spindle orientation GO:0000278 mitotic cell cycle GO:0006888 ER to Golgi vesicle-mediated transport GO:0007049 cell cycle GO:0007399 nervous system development GO:0010389 regulation of G2/M transition of mitotic cell cycle GO:0010457 centriole-centriole cohesion GO:0010970 transport along microtubule GO:0019886 antigen processing and presentation of exogenous peptide antigen via MHC class II GO:0031116 positive regulation of microtubule polymerization GO:0032402 melanosome transport GO:0034454 microtubule anchoring at centrosome GO:0036498 IRE1-mediated unfolded protein response GO:0042147 retrograde transport, endosome to Golgi GO:0051081 nuclear envelope disassembly GO:0051301 cell division GO:0060236 regulation of mitotic spindle organization GO:0090063 positive regulation of microtubule nucleation GO:0097711 ciliary basal body docking GO:1905515 non-motile cilium assembly
KEGG - Kyoto Encyclopedia of Genes and Genomes hsa04962 - Vasopressin-regulated water reabsorption hsa05016 - Huntington's disease
BioCarta from NCI Cancer Genome Anatomy Project h_Lis1Pathway - Lissencephaly gene (LIS1) in neuronal migration and development
Reactome (by CSHL, EBI, and GO)
Protein Q14203 (Reactome details) participates in the following event(s):
R-HSA-380272 Plk1-mediated phosphorylation of Nlp R-HSA-380283 Recruitment of additional gamma tubulin/ gamma TuRC to the centrosome R-HSA-380294 Loss of C-Nap-1 from centrosomes R-HSA-380311 Recruitment of Plk1 to centrosomes R-HSA-380455 Recruitment of CDK11p58 to the centrosomes R-HSA-380303 Dissociation of Phospho-Nlp from the centrosome R-HSA-5626220 C2CD3 binds the mother centriole R-HSA-380508 Translocation of NuMA to the centrosomes R-HSA-2574845 AJUBA binds centrosome-associated AURKA R-HSA-8853405 TPX2 binds AURKA at centrosomes R-HSA-3000319 BORA binds PLK1 and AURKA R-HSA-2574840 AJUBA facilitates AURKA autophosphorylation R-HSA-3000310 AURKA phosphorylates PLK1 R-HSA-5626223 C2CD3 and OFD1 recruit 5 distal appendage proteins to the centriole R-HSA-5626681 Recruitment of transition zone proteins R-HSA-5626227 CP110 and CEP97 dissociate from the centriole R-HSA-380316 Association of NuMA with microtubules R-HSA-8853419 TPX2 promotes AURKA autophosphorylation R-HSA-5626228 The distal appendage proteins recruit TTBK2 R-HSA-5638009 CEP164 recruits RAB3IP-carrying Golgi-derived vesicles to the basal body R-HSA-5626699 MARK4 binds ODF2 in the centriole R-HSA-5617816 RAB3IP stimulates nucleotide exchange on RAB8A R-HSA-380259 Loss of Nlp from mitotic centrosomes R-HSA-380270 Recruitment of mitotic centrosome proteins and complexes R-HSA-380284 Loss of proteins required for interphase microtubule organization from the centrosome R-HSA-5620912 Anchoring of the basal body to the plasma membrane R-HSA-380320 Recruitment of NuMA to mitotic centrosomes R-HSA-2565942 Regulation of PLK1 Activity at G2/M Transition R-HSA-8854518 AURKA Activation by TPX2 R-HSA-380287 Centrosome maturation R-HSA-5617833 Cilium Assembly R-HSA-68877 Mitotic Prometaphase R-HSA-69275 G2/M Transition R-HSA-1852241 Organelle biogenesis and maintenance R-HSA-68886 M Phase R-HSA-453274 Mitotic G2-G2/M phases R-HSA-69278 Cell Cycle (Mitotic) R-HSA-1640170 Cell Cycle R-HSA-6809003 ERGIC-to-Golgi vesicles bind dynein:dynactin R-HSA-6809006 Vesicle is tethered through binding GOLGA2:GORASP1, GOLGB1 and the COG complex R-HSA-8849350 RAB6:GTP displaces PAFAH1B1 from dynein:dynactin complex R-HSA-381038 XBP1(S) activates chaperone genes R-HSA-381070 IRE1alpha activates chaperones R-HSA-381119 Unfolded Protein Response (UPR) R-HSA-392499 Metabolism of proteins R-HSA-2132295 MHC class II antigen presentation R-HSA-6807878 COPI-mediated anterograde transport R-HSA-6811436 COPI-independent Golgi-to-ER retrograde traffic R-HSA-1280218 Adaptive Immune System R-HSA-199977 ER to Golgi Anterograde Transport R-HSA-8856688 Golgi-to-ER retrograde transport R-HSA-168256 Immune System R-HSA-199991 Membrane Trafficking R-HSA-948021 Transport to the Golgi and subsequent modification R-HSA-6811442 Intra-Golgi and retrograde Golgi-to-ER traffic R-HSA-5653656 Vesicle-mediated transport R-HSA-446203 Asparagine N-linked glycosylation R-HSA-597592 Post-translational protein modification
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