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UniProtKB - Q14203 (DCTN1_HUMAN)

Entry version 212 (23 Feb 2022)
Sequence version 3 (18 Oct 2001)
Previous versions | rss
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Protein

Dynactin subunit 1

Gene

DCTN1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the 'protein existence' evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

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 recruitment 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).

5 Publications

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

Complete GO annotation on QuickGO ...

GO - Biological processi

Complete GO annotation on QuickGO ...

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Biological processCell cycle, Cell division, Mitosis, Transport

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

More...PathwayCommonsi		Q14203

Reactome - a knowledgebase of biological pathways and processes

More...Reactomei		R-HSA-2132295, MHC class II antigen presentation
R-HSA-2565942, Regulation of PLK1 Activity at G2/M Transition [Q14203-2]
R-HSA-3371497, HSP90 chaperone cycle for steroid hormone receptors (SHR) in the presence of ligand
R-HSA-380259, Loss of Nlp from mitotic centrosomes [Q14203-2]
R-HSA-380270, Recruitment of mitotic centrosome proteins and complexes [Q14203-2]
R-HSA-380284, Loss of proteins required for interphase microtubule organization from the centrosome [Q14203-2]
R-HSA-380320, Recruitment of NuMA to mitotic centrosomes [Q14203-2]
R-HSA-381038, XBP1(S) activates chaperone genes
R-HSA-5620912, Anchoring of the basal body to the plasma membrane [Q14203-2]
R-HSA-6807878, COPI-mediated anterograde transport
R-HSA-6811436, COPI-independent Golgi-to-ER retrograde traffic
R-HSA-8854518, AURKA Activation by TPX2 [Q14203-2]
R-HSA-9725370, Signaling by ALK fusions and activated point mutants

SignaLink: a signaling pathway resource with multi-layered regulatory networks

More...SignaLinki		Q14203

SIGNOR Signaling Network Open Resource

More...SIGNORi		Q14203

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Dynactin subunit 1
Alternative name(s):
150 kDa dynein-associated polypeptide
DAP-150
Short name:
DP-150
p135
p150-glued
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: 'Name', 'Synonyms', 'Ordered locus names' and 'ORF names'.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:DCTN1
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the 'taxonomic identifier' or 'taxid'.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes%5Fmanual">proteome</a> can consist of several components.<br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 2

Organism-specific databases

Human Gene Nomenclature Database

More...HGNCi		HGNC:2711, DCTN1

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		601143, gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_Q14203

Eukaryotic Pathogen, Vector and Host Database Resources

More...VEuPathDBi		HostDB:ENSG00000204843

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Keywords - Cellular componenti

Cytoplasm, Cytoskeleton, Dynein, Microtubule, Nucleus

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the 'Pathology and Biotech' section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Neuronopathy, distal hereditary motor, 7B (HMN7B)5 Publications
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionA 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.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_01585059G → S in HMN7B; reduced affinity for microtubules which has been suggested to impair axonal transport; the effect is identical to that of complete loss of the CAP-Gly domain; decreased interaction with MAPRE1; no effect on its interaction with TBCB. 5 PublicationsCorresponds to variant dbSNP:rs121909342EnsemblClinVar.1
Amyotrophic lateral sclerosis (ALS)2 Publications
Disease susceptibility is associated with variants affecting the gene represented in this entry.
Disease descriptionA 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.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_063872571M → T in ALS; associated with disease susceptibility. 1 PublicationCorresponds to variant dbSNP:rs121909343EnsemblClinVar.1
Natural variantiVAR_063873785R → W in ALS; associated with disease susceptibility. 1 PublicationCorresponds to variant dbSNP:rs121909344EnsemblClinVar.1
Natural variantiVAR_0638741101R → K in ALS; associated with disease susceptibility. 1 PublicationCorresponds to variant dbSNP:rs121909345EnsemblClinVar.1
Natural variantiVAR_0638751249T → I in ALS; unknown pathological significance. 3 PublicationsCorresponds to variant dbSNP:rs72466496EnsemblClinVar.1
Perry syndrome (PERRYS)6 Publications
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionA 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.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07145252F → L in PERRYS; mutation carriers either do not develop depression or they do develop it late in the disease course. 1 PublicationCorresponds to variant dbSNP:rs886039227Ensembl.1
Natural variantiVAR_06386771G → A in PERRYS. 1 PublicationCorresponds to variant dbSNP:rs67586389EnsemblClinVar.1
Natural variantiVAR_06386871G → E in PERRYS. 1 PublicationCorresponds to variant dbSNP:rs67586389EnsemblClinVar.1
Natural variantiVAR_06386971G → R in PERRYS; reduced microtubule binding; results in the accumulation of intracytoplasmic inclusions; loss of interaction with CLIP1; significant decrease in motility of dynein-dynactin complex along microtubules. 4 PublicationsCorresponds to variant dbSNP:rs72466485EnsemblClinVar.1
Natural variantiVAR_06387072T → P in PERRYS. 1 PublicationCorresponds to variant dbSNP:rs72466486Ensembl.1
Natural variantiVAR_06387174Q → P in PERRYS; diminishes microtubule binding and lead to intracytoplasmic inclusions; significant decrease in motility of dynein-dynactin complex along microtubules; defective in inhibiting microtubule catastrophe in neurons. 3 PublicationsCorresponds to variant dbSNP:rs72466487EnsemblClinVar.1
Natural variantiVAR_07145378Y → C in PERRYS; significantly reduced microtubule binding. 1 PublicationCorresponds to variant dbSNP:rs886039229Ensembl.1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology%5Fand%5Fbiotech%5Fsection">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>Mutagenesisi68K → A: Abolishes interaction with CLIP1. 1 Publication1
Mutagenesisi90R → E: Abolishes interaction with CLIP1. 1 Publication1
Mutagenesisi145T → A: Affects centrosomal localization; when associated with A-146 and A-147. 1 Publication1
Mutagenesisi146T → A: Affects centrosomal localization; when associated with A-145 and A-147. 1 Publication1
Mutagenesisi147T → A: Affects centrosomal localization; when associated with A-145 and A-146. 1 Publication1
Mutagenesisi179S → A: Non-phosphorylatable by PLK1. Decreased nuclear envelope localization. No loss of microtubule-binding. No effect on its interaction with CLIP1. 1 Publication1
Mutagenesisi179S → D: No loss of localization to nuclear envelope. Decrease in microtubule-binding. No effect on its interaction with CLIP1. 1 Publication1
Mutagenesisi212S → A: No effect on its interaction with CLIP1 and PLK1. 1 Publication1

Keywords - Diseasei

Amyotrophic lateral sclerosis, Neurodegeneration, Neuropathy, Parkinsonism

Organism-specific databases

DisGeNET

More...DisGeNETi		1639

GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

More...GeneReviewsi		DCTN1

MalaCards human disease database

More...MalaCardsi		DCTN1
MIMi105400, phenotype
168605, phenotype
607641, phenotype

Open Targets

More...OpenTargetsi		ENSG00000204843

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...Orphaneti		803, Amyotrophic lateral sclerosis
139589, Distal hereditary motor neuropathy type 7
178509, Perry syndrome

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA27180

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		Q14203, Tbio

Genetic variation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		DCTN1

Domain mapping of disease mutations (DMDM)

More...DMDMi		17375490

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section describes the extent of a polypeptide chain in the mature protein following processing or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00000835181 – 1278Dynactin subunit 1Add BLAST1278

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei108PhosphothreonineCombined sources1
Modified residuei145Phosphothreonine; by SLK1 Publication1
Modified residuei146Phosphothreonine; by SLK1 Publication1
Modified residuei147Phosphothreonine; by SLK1 Publication1
Modified residuei179Phosphoserine; by PLK11 Publication1
Modified residuei212Phosphoserine; by CDK11 Publication1

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">PTM/processing</a> section describes post-translational modifications (PTMs). This subsection <strong>complements</strong> the information provided at the sequence level or describes modifications for which <strong>position-specific data is not yet available</strong>.<p><a href='/help/post-translational_modification' target='_top'>More...</a></p>Post-translational modificationi

Ubiquitinated by a SCF complex containing FBXL5, leading to its degradation by the proteasome.1 Publication
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.2 Publications

Keywords - PTMi

Phosphoprotein, Ubl conjugation

Proteomic databases

Encyclopedia of Proteome Dynamics

More...EPDi		Q14203

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		Q14203

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		Q14203

MaxQB - The MaxQuant DataBase

More...MaxQBi		Q14203

PaxDb, a database of protein abundance averages across all three domains of life

More...PaxDbi		Q14203

PeptideAtlas

More...PeptideAtlasi		Q14203

PRoteomics IDEntifications database

More...PRIDEi		Q14203

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		20166
20302
2371
33940
59925 [Q14203-1]
59926 [Q14203-2]

2D gel databases

USC-OGP 2-DE database

More...OGPi		Q14203

PTM databases

CarbonylDB database of protein carbonylation sites

More...CarbonylDBi		Q14203

GlyGen: Computational and Informatics Resources for Glycoscience

More...GlyGeni		Q14203, 1 site, 1 O-linked glycan (1 site)

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		Q14203

MetOSite database of methionine sulfoxide sites

More...MetOSitei		Q14203

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...PhosphoSitePlusi		Q14203

SwissPalm database of S-palmitoylation events

More...SwissPalmi		Q14203

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the 'Expression' section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified 'at protein level'.<br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Brain.

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000204843, Expressed in frontal cortex and 237 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		Q14203, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		Q14203, HS

Organism-specific databases

Human Protein Atlas

More...HPAi		ENSG00000204843, Low tissue specificity

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction%5Fsection">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function%5Fsection">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

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).

Interacts with DYNC1I2 (By similarity).

By similarity24 Publications

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction%5Fsection">Interaction</a>' section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="https://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated at every <a href="http://www.uniprot.org/help/synchronization">UniProt release</a>.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

Q14203
With#Exp.IntAct
ACTR1B [P42025]3EBI-724352,EBI-367493
BBS4 [Q96RK4]3EBI-724352,EBI-1805814
CLIP1 - isoform 2 [P30622-1]7EBI-724352,EBI-9640673
MAPRE1 [Q15691]7EBI-724352,EBI-1004115
MAPT - isoform Tau-F [P10636-8]9EBI-724352,EBI-366233
SNX6 [Q9UNH7]2EBI-724352,EBI-949294
Hap1 [P54256] from Rattus norvegicus.4EBI-724352,EBI-994539
Isoform 5 [Q14203-5]
With#Exp.IntAct
ANKRD13D - isoform 2 [Q6ZTN6-2]3EBI-25840379,EBI-25840993
AP2B1 - isoform 2 [P63010-2]3EBI-25840379,EBI-11529439
APP [P05067]5EBI-25840379,EBI-77613
ASMTL [O95671]3EBI-25840379,EBI-743231
ATF3 [P18847]3EBI-25840379,EBI-712767
BAG6 - isoform 2 [P46379-2]3EBI-25840379,EBI-10988864
BBS1 [Q8NFJ9]3EBI-25840379,EBI-1805484
BIRC5 [O15392]3EBI-25840379,EBI-518823
BRK1 [Q8WUW1]3EBI-25840379,EBI-2837444
CASP3 [P42574]3EBI-25840379,EBI-524064
COPS3 [Q9UNS2]3EBI-25840379,EBI-350590
DCTN3 - isoform 2 [O75935-2]3EBI-25840379,EBI-12091947
DLX3 [O60479]3EBI-25840379,EBI-3908248
DYNC1I1 - isoform 2 [O14576-2]3EBI-25840379,EBI-25840445
ENKUR [Q8TC29]3EBI-25840379,EBI-9246952
ESRP1 [Q6NXG1]3EBI-25840379,EBI-10213520
FEZ2 [Q9UHY8]3EBI-25840379,EBI-396453
HDAC6 [Q9UBN7]6EBI-25840379,EBI-301697
IFT20 - isoform 3 [Q8IY31-3]3EBI-25840379,EBI-9091197
IQSEC1 - isoform 2 [Q6DN90-2]3EBI-25840379,EBI-21911304
KIFBP [Q96EK5]3EBI-25840379,EBI-744150
KLHL20 [Q9Y2M5]3EBI-25840379,EBI-714379
L3MBTL3 - isoform 2 [Q96JM7-2]3EBI-25840379,EBI-11985629
LDHAL6B [Q9BYZ2]3EBI-25840379,EBI-1108377
LSM8 [O95777]3EBI-25840379,EBI-347779
MAGEA6 [P43360]3EBI-25840379,EBI-1045155
MAPT - isoform Tau-D [P10636-6]3EBI-25840379,EBI-7796455
MKL1 [A4FUJ8]3EBI-25840379,EBI-21250407
MPND [Q8N594]3EBI-25840379,EBI-2512452
NVL - isoform 5 [O15381-5]3EBI-25840379,EBI-18577082
OTUB1 [Q96FW1]3EBI-25840379,EBI-1058491
OTUD7B - isoform 2 [Q6GQQ9-2]3EBI-25840379,EBI-25830200
PCDHGC3 [Q9BR81]3EBI-25840379,EBI-22012354
PCMTD2 [Q9NV79]3EBI-25840379,EBI-6309018
PSMC3 [P17980]3EBI-25840379,EBI-359720
RABGEF1 - isoform 3 [Q9UJ41-4]3EBI-25840379,EBI-14093916
RNF112 [Q9ULX5]3EBI-25840379,EBI-25829984
RNF168 [Q8IYW5]3EBI-25840379,EBI-914207
RNF183 [Q96D59]3EBI-25840379,EBI-743938
RPGR - isoform 6 [Q92834-6]3EBI-25840379,EBI-16431517
RYBP [Q8N488]3EBI-25840379,EBI-752324
SEC23A [Q15436]3EBI-25840379,EBI-81088
SMURF1 - isoform Short [Q9HCE7-2]3EBI-25840379,EBI-9845742
SPAG8 - isoform 2 [Q99932-2]3EBI-25840379,EBI-11959123
STAM2 [O75886]3EBI-25840379,EBI-373258
TERF2 - isoform 2 [Q15554-4]3EBI-25840379,EBI-25840535
TMUB2 - isoform 4 [Q71RG4-4]3EBI-25840379,EBI-25831574
TOLLIP [Q9H0E2]3EBI-25840379,EBI-74615
TRIM21 [P19474]3EBI-25840379,EBI-81290
TWIST2 [Q8WVJ9]3EBI-25840379,EBI-1797313
UBA52 [P62987]3EBI-25840379,EBI-357304
UBAC1 [Q9BSL1]3EBI-25840379,EBI-749370
UBAC2 - isoform 4 [Q8NBM4-4]3EBI-25840379,EBI-25840976
UBASH3A - isoform 2 [P57075-2]3EBI-25840379,EBI-7353612
UBXN1 - isoform 2 [Q04323-2]3EBI-25840379,EBI-11530712
UIMC1 - isoform 2 [Q96RL1-2]3EBI-25840379,EBI-17761788
WDR61 [Q9GZS3]3EBI-25840379,EBI-358545
WWP2 [O00308]3EBI-25840379,EBI-743923

GO - Molecular functioni

Complete GO annotation on QuickGO ...

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...BioGRIDi		108007, 367 interactors

CORUM comprehensive resource of mammalian protein complexes

More...CORUMi		Q14203

Database of interacting proteins

More...DIPi		DIP-31365N

Protein interaction database and analysis system

More...IntActi		Q14203, 279 interactors

Molecular INTeraction database

More...MINTi		Q14203

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000354791

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		Q14203, protein

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

Secondary structure

11278
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

Biological Magnetic Resonance Data Bank

More...BMRBi		Q14203

SWISS-MODEL Repository - a database of annotated 3D protein structure models

More...SMRi		Q14203

Database of comparative protein structure models

More...ModBasei		Search...

Protein Data Bank in Europe - Knowledge Base

More...PDBe-KBi		Search...

Miscellaneous databases

Relative evolutionary importance of amino acids within a protein sequence

More...EvolutionaryTracei		Q14203

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family%5Fand%5Fdomains%5Fsection">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini48 – 90CAP-GlyPROSITE-ProRule annotationAdd BLAST43

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni1 – 25DisorderedSequence analysisAdd BLAST25
Regioni100 – 223DisorderedSequence analysisAdd BLAST124
Regioni911 – 1278Interaction with HPS61 PublicationAdd BLAST368

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and domains' section denotes the positions of regions of coiled coil within the protein.<p><a href='/help/coiled' target='_top'>More...</a></p>Coiled coili213 – 547Sequence analysisAdd BLAST335
Coiled coili943 – 1049Sequence analysisAdd BLAST107
Coiled coili1182 – 1211Sequence analysisAdd BLAST30

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section describes the position of regions of compositional bias within the protein and the particular type of amino acids that are over-represented within those regions.<p><a href='/help/compbias' target='_top'>More...</a></p>Compositional biasi1 – 19Polar residuesSequence analysisAdd BLAST19
Compositional biasi131 – 150Basic residuesSequence analysisAdd BLAST20
Compositional biasi158 – 188Polar residuesSequence analysisAdd BLAST31

<p>This subsection of the 'Family and domains' section provides general information on the biological role of a domain. The term 'domain' is intended here in its wide acceptation, it may be a structural domain, a transmembrane region or a functional domain. Several domains are described in this subsection.<p><a href='/help/domain_cc' target='_top'>More...</a></p>Domaini

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.3 Publications

<p>This subsection of the 'Family and domains' section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the dynactin 150 kDa subunit family.Curated

Keywords - Domaini

Coiled coil

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG0971, Eukaryota

Ensembl GeneTree

More...GeneTreei		ENSGT00940000155378

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		CLU_002523_0_0_1

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		Q14203

Identification of Orthologs from Complete Genome Data

More...OMAi		SQGWLQM

Database for complete collections of gene phylogenies

More...PhylomeDBi		Q14203

TreeFam database of animal gene trees

More...TreeFami		TF105246

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

More...Gene3Di		2.30.30.190, 1 hit

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR036859, CAP-Gly_dom_sf
IPR000938, CAP-Gly_domain
IPR022157, Dynactin

Pfam protein domain database

More...Pfami		View protein in Pfam
PF01302, CAP_GLY, 1 hit
PF12455, Dynactin, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

More...SMARTi		View protein in SMART
SM01052, CAP_GLY, 1 hit

Superfamily database of structural and functional annotation

More...SUPFAMi		SSF74924, SSF74924, 1 hit

PROSITE; a protein domain and family database

More...PROSITEi		View protein in PROSITE
PS00845, CAP_GLY_1, 1 hit
PS50245, CAP_GLY_2, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence%5Flength">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (6+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry describes 6 <p>This subsection of the 'Sequence' section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 6 described isoforms and 12 potential isoforms that are computationally mapped.Show allAlign All

Isoform p150 (identifier: Q14203-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the <p><strong>What is the canonical sequence?</strong><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MAQSKRHVYS RTPSGSRMSA EASARPLRVG SRVEVIGKGH RGTVAYVGAT 
        60         70         80         90        100
LFATGKWVGV ILDEAKGKND GTVQGRKYFT CDEGHGIFVR QSQIQVFEDG 
       110        120        130        140        150
ADTTSPETPD SSASKVLKRE GTDTTAKTSK LRGLKPKKAP TARKTTTRRP 
       160        170        180        190        200
KPTRPASTGV AGASSSLGPS GSASAGELSS SEPSTPAQTP LAAPIIPTPV 
       210        220        230        240        250
LTSPGAVPPL PSPSKEEEGL RAQVRDLEEK LETLRLKRAE DKAKLKELEK 
       260        270        280        290        300
HKIQLEQVQE WKSKMQEQQA DLQRRLKEAR KEAKEALEAK ERYMEEMADT 
       310        320        330        340        350
ADAIEMATLD KEMAEERAES LQQEVEALKE RVDELTTDLE ILKAEIEEKG 
       360        370        380        390        400
SDGAASSYQL KQLEEQNARL KDALVRMRDL SSSEKQEHVK LQKLMEKKNQ 
       410        420        430        440        450
ELEVVRQQRE RLQEELSQAE STIDELKEQV DAALGAEEMV EMLTDRNLNL 
       460        470        480        490        500
EEKVRELRET VGDLEAMNEM NDELQENARE TELELREQLD MAGARVREAQ 
       510        520        530        540        550
KRVEAAQETV ADYQQTIKKY RQLTAHLQDV NRELTNQQEA SVERQQQPPP 
       560        570        580        590        600
ETFDFKIKFA ETKAHAKAIE MELRQMEVAQ ANRHMSLLTA FMPDSFLRPG 
       610        620        630        640        650
GDHDCVLVLL LMPRLICKAE LIRKQAQEKF ELSENCSERP GLRGAAGEQL 
       660        670        680        690        700
SFAAGLVYSL SLLQATLHRY EHALSQCSVD VYKKVGSLYP EMSAHERSLD 
       710        720        730        740        750
FLIELLHKDQ LDETVNVEPL TKAIKYYQHL YSIHLAEQPE DCTMQLADHI 
       760        770        780        790        800
KFTQSALDCM SVEVGRLRAF LQGGQEATDI ALLLRDLETS CSDIRQFCKK 
       810        820        830        840        850
IRRRMPGTDA PGIPAALAFG PQVSDTLLDC RKHLTWVVAV LQEVAAAAAQ 
       860        870        880        890        900
LIAPLAENEG LLVAALEELA FKASEQIYGT PSSSPYECLR QSCNILISTM 
       910        920        930        940        950
NKLATAMQEG EYDAERPPSK PPPVELRAAA LRAEITDAEG LGLKLEDRET 
       960        970        980        990       1000
VIKELKKSLK IKGEELSEAN VRLSLLEKKL DSAAKDADER IEKVQTRLEE 
      1010       1020       1030       1040       1050
TQALLRKKEK EFEETMDALQ ADIDQLEAEK AELKQRLNSQ SKRTIEGLRG 
      1060       1070       1080       1090       1100
PPPSGIATLV SGIAGEEQQR GAIPGQAPGS VPGPGLVKDS PLLLQQISAM 
      1110       1120       1130       1140       1150
RLHISQLQHE NSILKGAQMK ASLASLPPLH VAKLSHEGPG SELPAGALYR 
      1160       1170       1180       1190       1200
KTSQLLETLN QLSTHTHVVD ITRTSPAAKS PSAQLMEQVA QLKSLSDTVE 
      1210       1220       1230       1240       1250
KLKDEVLKET VSQRPGATVP TDFATFPSSA FLRAKEEQQD DTVYMGKVTF 
      1260       1270 
SCAAGFGQRH RLVLTQEQLH QLHSRLIS
Length:1,278
Mass (Da):141,695
Last modified:October 18, 2001 - v3
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:i6DCEA5E67856E4BC
GO
Isoform p135 (identifier: Q14203-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-138: MAQSKRHVYS...SKLRGLKPKK → MMRQ

Show »
Length:1,144
Mass (Da):127,404
Checksum:iD4011CF3E4BF06F6
GO
Isoform 3 (identifier: Q14203-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-17: Missing.
     132-151: Missing.
     1066-1070: Missing.

Show »
Length:1,236
Mass (Da):136,820
Checksum:iF4374391D7DF0F04
GO
Isoform 4 (identifier: Q14203-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     132-151: Missing.
     1066-1070: Missing.

Show »
Length:1,253
Mass (Da):138,750
Checksum:i9871FA03C07751DE
GO
Isoform 5 (identifier: Q14203-5) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-138: MAQSKRHVYS...SKLRGLKPKK → MMRQ
     1066-1070: Missing.

Show »
Length:1,139
Mass (Da):126,733
Checksum:i1997342C3ADA9F82
GO
Isoform 6 (identifier: Q14203-6) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     132-138: Missing.

Show »
Length:1,271
Mass (Da):140,887
Checksum:i7BCE4BF282947485
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 12 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
E7EX90E7EX90_HUMAN
Dynactin subunit 1
DCTN1
1,256Annotation score:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
Q6AWB1Q6AWB1_HUMAN
Dynactin subunit 1
DCTN1 DKFZp686E0752
890Annotation score:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A7P0Z4C3A0A7P0Z4C3_HUMAN
Dynactin subunit 1
DCTN1
1,261Annotation score:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A804CDA6A0A804CDA6_HUMAN
Dynactin subunit 1
DCTN1
1,273Annotation score:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
E9PCY0E9PCY0_HUMAN
Dynactin subunit 1
DCTN1
186Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
C9JKG6C9JKG6_HUMAN
Dynactin subunit 1
DCTN1
135Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
C9JJD0C9JJD0_HUMAN
Dynactin subunit 1
DCTN1
121Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
C9J1B7C9J1B7_HUMAN
Dynactin subunit 1
DCTN1
64Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
C9JJN7C9JJN7_HUMAN
Dynactin subunit 1
DCTN1
87Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
C9JZA4C9JZA4_HUMAN
Dynactin subunit 1
DCTN1
76Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
There are more potential isoformsShow all

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti10S → N in CAA67333 (PubMed:8856662).Curated1
Sequence conflicti257Q → R in BAG59757 (PubMed:14702039).Curated1
Sequence conflicti349K → R in AK314352 (PubMed:14702039).Curated1
Sequence conflicti368A → V in AK314352 (PubMed:14702039).Curated1
Sequence conflicti526H → N in AAH71583 (PubMed:15489334).Curated1
Sequence conflicti618K → R in AAH71583 (PubMed:15489334).Curated1
Sequence conflicti712D → V in CAA67333 (PubMed:8856662).Curated1
Sequence conflicti1081V → M in AAP35404 (Ref. 9) Curated1
Sequence conflicti1261R → Q in BAG59757 (PubMed:14702039).Curated1
Sequence conflicti1274S → I in AAH71583 (PubMed:15489334).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07145252F → L in PERRYS; mutation carriers either do not develop depression or they do develop it late in the disease course. 1 PublicationCorresponds to variant dbSNP:rs886039227Ensembl.1
Natural variantiVAR_01585059G → S in HMN7B; reduced affinity for microtubules which has been suggested to impair axonal transport; the effect is identical to that of complete loss of the CAP-Gly domain; decreased interaction with MAPRE1; no effect on its interaction with TBCB. 5 PublicationsCorresponds to variant dbSNP:rs121909342EnsemblClinVar.1
Natural variantiVAR_06386771G → A in PERRYS. 1 PublicationCorresponds to variant dbSNP:rs67586389EnsemblClinVar.1
Natural variantiVAR_06386871G → E in PERRYS. 1 PublicationCorresponds to variant dbSNP:rs67586389EnsemblClinVar.1
Natural variantiVAR_06386971G → R in PERRYS; reduced microtubule binding; results in the accumulation of intracytoplasmic inclusions; loss of interaction with CLIP1; significant decrease in motility of dynein-dynactin complex along microtubules. 4 PublicationsCorresponds to variant dbSNP:rs72466485EnsemblClinVar.1
Natural variantiVAR_06387072T → P in PERRYS. 1 PublicationCorresponds to variant dbSNP:rs72466486Ensembl.1
Natural variantiVAR_06387174Q → P in PERRYS; diminishes microtubule binding and lead to intracytoplasmic inclusions; significant decrease in motility of dynein-dynactin complex along microtubules; defective in inhibiting microtubule catastrophe in neurons. 3 PublicationsCorresponds to variant dbSNP:rs72466487EnsemblClinVar.1
Natural variantiVAR_07145378Y → C in PERRYS; significantly reduced microtubule binding. 1 PublicationCorresponds to variant dbSNP:rs886039229Ensembl.1
Natural variantiVAR_001373163A → P. 1
Natural variantiVAR_076920196I → V No effect of its interaction with TBCB; no loss of localization to microtubules. 2 PublicationsCorresponds to variant dbSNP:rs55862001EnsemblClinVar.1
Natural variantiVAR_048677287L → M. Corresponds to variant dbSNP:rs13420401EnsemblClinVar.1
Natural variantiVAR_048678495R → Q1 PublicationCorresponds to variant dbSNP:rs17721059EnsemblClinVar.1
Natural variantiVAR_063872571M → T in ALS; associated with disease susceptibility. 1 PublicationCorresponds to variant dbSNP:rs121909343EnsemblClinVar.1
Natural variantiVAR_073287670Y → F Found in a patient with hereditary motor and sensory neuropathy; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs765819985EnsemblClinVar.1
Natural variantiVAR_063873785R → W in ALS; associated with disease susceptibility. 1 PublicationCorresponds to variant dbSNP:rs121909344EnsemblClinVar.1
Natural variantiVAR_0638741101R → K in ALS; associated with disease susceptibility. 1 PublicationCorresponds to variant dbSNP:rs121909345EnsemblClinVar.1
Natural variantiVAR_0638751249T → I in ALS; unknown pathological significance. 3 PublicationsCorresponds to variant dbSNP:rs72466496EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_0007601 – 138MAQSK…LKPKK → MMRQ in isoform p135 and isoform 5. 1 PublicationAdd BLAST138
Alternative sequenceiVSP_0453921 – 17Missing in isoform 3. 1 PublicationAdd BLAST17
Alternative sequenceiVSP_045393132 – 151Missing in isoform 3 and isoform 4. 1 PublicationAdd BLAST20
Alternative sequenceiVSP_047174132 – 138Missing in isoform 6. 1 Publication7
Alternative sequenceiVSP_0453941066 – 1070Missing in isoform 3, isoform 4 and isoform 5. 2 Publications5

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...EMBLi

GenBank nucleotide sequence database

More...GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...DDBJi
Links Updated
AF064205, AF064203, AF064204 Genomic DNA Translation: AAD55811.1
AF064205, AF064204 Genomic DNA Translation: AAD55812.1
AK297286 mRNA Translation: BAG59757.1
AK314352 mRNA No translation available.
AC005041 Genomic DNA No translation available.
CH471053 Genomic DNA Translation: EAW99684.1
BC071583 mRNA Translation: AAH71583.1
X98801 mRNA Translation: CAA67333.1
AF086947 AF086946 Genomic DNA Translation: AAD03694.1
BT006758 mRNA Translation: AAP35404.1

The Consensus CDS (CCDS) project

More...CCDSi		CCDS1939.1 [Q14203-1]
CCDS46341.1 [Q14203-4]
CCDS46342.1 [Q14203-5]
CCDS46343.1 [Q14203-2]
CCDS54368.1 [Q14203-3]
CCDS54369.1 [Q14203-6]

NCBI Reference Sequences

More...RefSeqi		NP_001128512.1, NM_001135040.2 [Q14203-4]
NP_001128513.1, NM_001135041.2 [Q14203-5]
NP_001177765.1, NM_001190836.1 [Q14203-3]
NP_001177766.1, NM_001190837.1 [Q14203-6]
NP_004073.2, NM_004082.4 [Q14203-1]
NP_075408.1, NM_023019.3 [Q14203-2]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000394003; ENSP00000377571; ENSG00000204843 [Q14203-6]
ENST00000409240; ENSP00000386406; ENSG00000204843 [Q14203-3]
ENST00000409438; ENSP00000387270; ENSG00000204843 [Q14203-5]
ENST00000409567; ENSP00000386843; ENSG00000204843 [Q14203-4]
ENST00000628224; ENSP00000487279; ENSG00000204843
ENST00000633691; ENSP00000487724; ENSG00000204843 [Q14203-2]

Database of genes from NCBI RefSeq genomes

More...GeneIDi		1639

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:1639

Matched Annotation from NCBI and EMBL-EBI (MANE) - Phase one

More...MANE-Selecti		ENST00000628224.3; ENSP00000487279.2; NM_004082.5; NP_004073.2

UCSC genome browser

More...UCSCi		uc002sku.4, human [Q14203-1]

Keywords - Coding sequence diversityi

Alternative splicing

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF064205, AF064203, AF064204 Genomic DNA Translation: AAD55811.1
AF064205, AF064204 Genomic DNA Translation: AAD55812.1
AK297286 mRNA Translation: BAG59757.1
AK314352 mRNA No translation available.
AC005041 Genomic DNA No translation available.
CH471053 Genomic DNA Translation: EAW99684.1
BC071583 mRNA Translation: AAH71583.1
X98801 mRNA Translation: CAA67333.1
AF086947 AF086946 Genomic DNA Translation: AAD03694.1
BT006758 mRNA Translation: AAP35404.1
CCDSiCCDS1939.1 [Q14203-1]
CCDS46341.1 [Q14203-4]
CCDS46342.1 [Q14203-5]
CCDS46343.1 [Q14203-2]
CCDS54368.1 [Q14203-3]
CCDS54369.1 [Q14203-6]
RefSeqiNP_001128512.1, NM_001135040.2 [Q14203-4]
NP_001128513.1, NM_001135041.2 [Q14203-5]
NP_001177765.1, NM_001190836.1 [Q14203-3]
NP_001177766.1, NM_001190837.1 [Q14203-6]
NP_004073.2, NM_004082.4 [Q14203-1]
NP_075408.1, NM_023019.3 [Q14203-2]

3D structure databases

Select the link destinations:

Protein Data Bank Europe

More...PDBei

Protein Data Bank RCSB

More...RCSB PDBi

Protein Data Bank Japan

More...PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
1TXQX-ray1.80A15-107[»]
2COYNMR-A1-99[»]
2HKNX-ray1.87A/B18-111[»]
2HKQX-ray1.86B18-111[»]
2HL3X-ray2.03A/B18-111[»]
2HL5X-ray1.93C/D18-111[»]
2HQHX-ray1.80A/B/C/D15-107[»]
3E2UX-ray2.60A/B/C/D18-111[»]
3TQ7X-ray2.30P/Q27-97[»]
BMRBiQ14203
SMRiQ14203
ModBaseiSearch...
PDBe-KBiSearch...

Protein-protein interaction databases

BioGRIDi108007, 367 interactors
CORUMiQ14203
DIPiDIP-31365N
IntActiQ14203, 279 interactors
MINTiQ14203
STRINGi9606.ENSP00000354791

PTM databases

CarbonylDBiQ14203
GlyGeniQ14203, 1 site, 1 O-linked glycan (1 site)
iPTMnetiQ14203
MetOSiteiQ14203
PhosphoSitePlusiQ14203
SwissPalmiQ14203

Genetic variation databases

BioMutaiDCTN1
DMDMi17375490

2D gel databases

OGPiQ14203

Proteomic databases

EPDiQ14203
jPOSTiQ14203
MassIVEiQ14203
MaxQBiQ14203
PaxDbiQ14203
PeptideAtlasiQ14203
PRIDEiQ14203
ProteomicsDBi20166
20302
2371
33940
59925 [Q14203-1]
59926 [Q14203-2]

Protocols and materials databases

ABCD curated depository of sequenced antibodies

More...ABCDi		Q14203, 1 sequenced antibody

Antibodypedia a portal for validated antibodies

More...Antibodypediai		3966, 320 antibodies from 42 providers

The DNASU plasmid repository

More...DNASUi		1639

Genome annotation databases

EnsembliENST00000394003; ENSP00000377571; ENSG00000204843 [Q14203-6]
ENST00000409240; ENSP00000386406; ENSG00000204843 [Q14203-3]
ENST00000409438; ENSP00000387270; ENSG00000204843 [Q14203-5]
ENST00000409567; ENSP00000386843; ENSG00000204843 [Q14203-4]
ENST00000628224; ENSP00000487279; ENSG00000204843
ENST00000633691; ENSP00000487724; ENSG00000204843 [Q14203-2]
GeneIDi1639
KEGGihsa:1639
MANE-SelectiENST00000628224.3; ENSP00000487279.2; NM_004082.5; NP_004073.2
UCSCiuc002sku.4, human [Q14203-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		1639
DisGeNETi1639

GeneCards: human genes, protein and diseases

More...GeneCardsi		DCTN1
GeneReviewsiDCTN1
HGNCiHGNC:2711, DCTN1
HPAiENSG00000204843, Low tissue specificity
MalaCardsiDCTN1
MIMi105400, phenotype
168605, phenotype
601143, gene
607641, phenotype
neXtProtiNX_Q14203
OpenTargetsiENSG00000204843
Orphaneti803, Amyotrophic lateral sclerosis
139589, Distal hereditary motor neuropathy type 7
178509, Perry syndrome
PharmGKBiPA27180
VEuPathDBiHostDB:ENSG00000204843

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG0971, Eukaryota
GeneTreeiENSGT00940000155378
HOGENOMiCLU_002523_0_0_1
InParanoidiQ14203
OMAiSQGWLQM
PhylomeDBiQ14203
TreeFamiTF105246

Enzyme and pathway databases

PathwayCommonsiQ14203
ReactomeiR-HSA-2132295, MHC class II antigen presentation
R-HSA-2565942, Regulation of PLK1 Activity at G2/M Transition [Q14203-2]
R-HSA-3371497, HSP90 chaperone cycle for steroid hormone receptors (SHR) in the presence of ligand
R-HSA-380259, Loss of Nlp from mitotic centrosomes [Q14203-2]
R-HSA-380270, Recruitment of mitotic centrosome proteins and complexes [Q14203-2]
R-HSA-380284, Loss of proteins required for interphase microtubule organization from the centrosome [Q14203-2]
R-HSA-380320, Recruitment of NuMA to mitotic centrosomes [Q14203-2]
R-HSA-381038, XBP1(S) activates chaperone genes
R-HSA-5620912, Anchoring of the basal body to the plasma membrane [Q14203-2]
R-HSA-6807878, COPI-mediated anterograde transport
R-HSA-6811436, COPI-independent Golgi-to-ER retrograde traffic
R-HSA-8854518, AURKA Activation by TPX2 [Q14203-2]
R-HSA-9725370, Signaling by ALK fusions and activated point mutants
SignaLinkiQ14203
SIGNORiQ14203

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...BioGRID-ORCSi		1639, 250 hits in 1050 CRISPR screens

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...ChiTaRSi		DCTN1, human
EvolutionaryTraceiQ14203

The Gene Wiki collection of pages on human genes and proteins

More...GeneWikii		DCTN1

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...GenomeRNAii		1639
PharosiQ14203, Tbio

Protein Ontology

More...PROi		PR:Q14203
RNActiQ14203, protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000204843, Expressed in frontal cortex and 237 other tissues
ExpressionAtlasiQ14203, baseline and differential
GenevisibleiQ14203, HS

Family and domain databases

Gene3Di2.30.30.190, 1 hit
InterProiView protein in InterPro
IPR036859, CAP-Gly_dom_sf
IPR000938, CAP-Gly_domain
IPR022157, Dynactin
PfamiView protein in Pfam
PF01302, CAP_GLY, 1 hit
PF12455, Dynactin, 1 hit
SMARTiView protein in SMART
SM01052, CAP_GLY, 1 hit
SUPFAMiSSF74924, SSF74924, 1 hit
PROSITEiView protein in PROSITE
PS00845, CAP_GLY_1, 1 hit
PS50245, CAP_GLY_2, 1 hit

MobiDB: a database of protein disorder and mobility annotations

More...MobiDBi		Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the 'Entry information' section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiDCTN1_HUMAN
<p>This subsection of the 'Entry information' section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called 'Primary (citable) accession number'.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q14203
Secondary accession number(s): A8MY36
, B4DM45, E9PFS5, E9PGE1, G5E9H4, O95296, Q6IQ37, Q9BRM9, Q9UIU1, Q9UIU2
<p>This subsection of the 'Entry information' section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification ('Last modified'). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: November 1, 1997
Last sequence update: October 18, 2001
Last modified: February 23, 2022
This is version 212 of the entry and version 3 of the sequence. See complete history.
<p>This subsection of the 'Entry information' section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

<p>This section contains any relevant information that doesn't fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

3D-structure, Reference proteome

Documents

  1. Human chromosome 2
    Human chromosome 2: entries, gene names and cross-references to MIM
  2. Human entries with genetic variants
    List of human entries with genetic variants
  3. Human variants curated from literature reports
    Index of human variants curated from literature reports
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. SIMILARITY comments
    Index of protein domains and families
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