DCTN1

DCTN1
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 1TXQ, 2COY, 2HKN, 2HKQ, 2HL3, 2HL5, 2HQH, 3E2U, 3TQ7
Identifiers
Aliases	DCTN1, DAP-150, DP-150, P135, dynactin subunit 1
External IDs	OMIM: 601143 MGI: 107745 HomoloGene: 3011 GeneCards: DCTN1
Gene location (Human) Chr. Chromosome 2 (human)[1] Band 2p13.1 Start 74,361,154 bp[1] End 74,392,087 bp[1]
Gene location (Mouse) Chr. Chromosome 6 (mouse)[2] Band 6 C3|6 35.94 cM Start 83,142,902 bp[2] End 83,177,099 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in prefrontal cortex nucleus accumbens amygdala putamen caudate nucleus anterior pituitary Brodmann area 9 hypothalamus sural nerve left ventricle Top expressed in entorhinal cortex superior frontal gyrus cerebellar cortex lip hippocampus proper superior colliculus esophagus dorsomedial hypothalamic nucleus medulla oblongata primary motor cortex More reference expression data BioGPS More reference expression data
Gene ontology Molecular function protein binding cytoskeletal motor activity microtubule binding tubulin binding dynein complex binding protein kinase binding tau protein binding Cellular component cytoplasm centrosome membrane dynactin complex retromer complex cell leading edge dynein complex microtubule cytoskeleton kinetochore microtubule organizing center nucleus nuclear envelope centriole spindle cytosol actin cytoskeleton microtubule plus-end spindle pole cell cortex region cell cortex microtubule associated complex axon neuron projection neuronal cell body intermediate filament cytoskeleton centriolar subdistal appendage Biological process antigen processing and presentation of exogenous peptide antigen via MHC class II nervous system development endoplasmic reticulum to Golgi vesicle-mediated transport transport along microtubule IRE1-mediated unfolded protein response retrograde transport, endosome to Golgi G2/M transition of mitotic cell cycle melanosome transport centriole-centriole cohesion positive regulation of microtubule polymerization microtubule anchoring at centrosome nuclear membrane disassembly positive regulation of microtubule nucleation ciliary basal body-plasma membrane docking non-motile cilium assembly mitotic cell cycle establishment of mitotic spindle orientation regulation of mitotic spindle organization cell cycle cell division regulation of G2/M transition of mitotic cell cycle transport neuromuscular junction development ventral spinal cord development neuromuscular process motor behavior neuron cellular homeostasis axonal transport maintenance of synapse structure positive regulation of neuromuscular junction development neuron projection maintenance Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 1639 13191 Ensembl ENSG00000204843 ENSMUSG00000031865 UniProt Q14203 O08788 RefSeq (mRNA) NM_001135040 NM_001135041 NM_001190836 NM_001190837 NM_004082 NM_023019 NM_001378991 NM_001378992 NM_001198866 NM_001198867 NM_007835 NM_001347310 RefSeq (protein) NP_001128512 NP_001128513 NP_001177765 NP_001177766 NP_004073 NP_075408 NP_001365920 NP_001365921 NP_001185795 NP_001185796 NP_001334239 NP_031861 Location (UCSC) Chr 2: 74.36 – 74.39 Mb Chr 6: 83.14 – 83.18 Mb PubMed search [3] [4]
Wikidata
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Dynactin subunit 1 is a protein that in humans is encoded by the DCTN1 gene.^[5]

Function

This gene encodes the largest subunit of dynactin, a macromolecular complex consisting of 23 subunits (11 individual proteins ranging in size from 22 to 150 kD).^[6] Dynactin binds to cytoplasmic dynein, dynein cargo adaptors, and microtubules.^[7] It 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 is commonly referred to p150-glued.^[5] It is present in two copies per dynactin complex and forms an ≈75 nm long flexible arm that extends from the main body of dynactin.^[6] The p150-glued arm contains binding sites for microtubules,^[8] the microtubule plus tip binding protein EB1,^[9] and the N-terminus of the dynein intermediate chain.^[10][11]

Alternative splicing of this gene results in at least 2 functionally distinct isoforms: a ubiquitously expressed one and a brain-specific one. Based on its cytogenetic location, this gene is considered as a candidate gene for limb-girdle muscular dystrophy.^[12]

Interactions

DCTN1 has been shown to interact with:

• BBS4,^[13]
• Dystonin,^[14]
• Grb2,^[15] and
• RAB6A.^[16]

References

Further reading

External links

• GeneReviews/NIH/NCBI/UW entry on Perry syndrome

This article on a gene on human chromosome 2 is a stub. You can help Wikipedia by expanding it.

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This page was last edited on 28 March 2024, at 05:18