Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Protein

Dynactin subunit 1

Gene

DCTN1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

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 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).4 Publications

GO - Molecular functioni

  • microtubule binding Source: UniProtKB
  • motor activity Source: UniProtKB-KW
  • tubulin binding Source: UniProtKB

GO - Biological processi

  • antigen processing and presentation of exogenous peptide antigen via MHC class II Source: Reactome
  • centriole-centriole cohesion Source: UniProtKB
  • ER to Golgi vesicle-mediated transport Source: Reactome
  • G2/M transition of mitotic cell cycle Source: Reactome
  • IRE1-mediated unfolded protein response Source: Reactome
  • melanosome transport Source: Ensembl
  • microtubule anchoring at centrosome Source: UniProtKB
  • mitotic nuclear division Source: ProtInc
  • nervous system development Source: UniProtKB
  • non-motile cilium assembly Source: UniProtKB
  • nuclear envelope disassembly Source: UniProtKB
  • positive regulation of microtubule nucleation Source: UniProtKB
  • positive regulation of microtubule polymerization Source: UniProtKB
  • retrograde transport, endosome to Golgi Source: UniProtKB
  • transport along microtubule Source: InterPro
Complete GO annotation...

Keywords - Biological processi

Transport

Enzyme and pathway databases

BioCyciZFISH:G66-31235-MONOMER.
ReactomeiR-HSA-2132295. MHC class II antigen presentation.
R-HSA-2565942. Regulation of PLK1 Activity at G2/M Transition.
R-HSA-380259. Loss of Nlp from mitotic centrosomes.
R-HSA-380270. Recruitment of mitotic centrosome proteins and complexes.
R-HSA-381038. XBP1(S) activates chaperone genes.
R-HSA-5620912. Anchoring of the basal body to the plasma membrane.
R-HSA-6807878. COPI-mediated anterograde transport.
R-HSA-6811436. COPI-independent Golgi-to-ER retrograde traffic.
R-HSA-8854518. AURKA Activation by TPX2.
SIGNORiQ14203.

Names & Taxonomyi

Protein namesi
Recommended name:
Dynactin subunit 1
Alternative name(s):
150 kDa dynein-associated polypeptide
DAP-150
Short name:
DP-150
p135
p150-glued
Gene namesi
Name:DCTN1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 2

Organism-specific databases

HGNCiHGNC:2711. DCTN1.

Subcellular locationi

GO - Cellular componenti

  • cell leading edge Source: Ensembl
  • centriole Source: UniProtKB
  • centrosome Source: UniProtKB
  • cytoplasm Source: ProtInc
  • cytosol Source: Reactome
  • dynactin complex Source: InterPro
  • dynein complex Source: UniProtKB-KW
  • kinetochore Source: UniProtKB
  • membrane Source: UniProtKB
  • microtubule Source: UniProtKB
  • microtubule plus-end Source: UniProtKB
  • nuclear envelope Source: UniProtKB
  • spindle Source: UniProtKB
  • spindle pole Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Cytoplasm, Cytoskeleton, Dynein, Microtubule, Nucleus

Pathology & Biotechi

Involvement in diseasei

Neuronopathy, distal hereditary motor, 7B (HMN7B)3 Publications
The disease is caused by mutations 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.
See also OMIM:607641
Feature keyPosition(s)DescriptionActionsGraphical viewLength
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 rs121909342dbSNPEnsembl.1
Amyotrophic lateral sclerosis (ALS)2 Publications
Disease susceptibility is associated with variations 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.
See also OMIM:105400
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_063872571M → T in ALS; associated with disease susceptibility. 1 PublicationCorresponds to variant rs121909343dbSNPEnsembl.1
Natural variantiVAR_063873785R → W in ALS; associated with disease susceptibility. 1 PublicationCorresponds to variant rs121909344dbSNPEnsembl.1
Natural variantiVAR_0638741101R → K in ALS; associated with disease susceptibility. 1 PublicationCorresponds to variant rs121909345dbSNPEnsembl.1
Natural variantiVAR_0638751249T → I in ALS; unknown pathological significance. 3 PublicationsCorresponds to variant rs72466496dbSNPEnsembl.1
Perry syndrome (PERRYS)6 Publications
The disease is caused by mutations 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.
See also OMIM:168605
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 Publication1
Natural variantiVAR_06386771G → A in PERRYS. 1 PublicationCorresponds to variant rs67586389dbSNPEnsembl.1
Natural variantiVAR_06386871G → E in PERRYS. 1 PublicationCorresponds to variant rs67586389dbSNPEnsembl.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 rs72466485dbSNPEnsembl.1
Natural variantiVAR_06387072T → P in PERRYS. 1 PublicationCorresponds to variant rs72466486dbSNPEnsembl.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 rs72466487dbSNPEnsembl.1
Natural variantiVAR_07145378Y → C in PERRYS; significantly reduced microtubule binding. 1 Publication1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
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, Parkinsonism

Organism-specific databases

DisGeNETi1639.
MalaCardsiDCTN1.
MIMi105400. phenotype.
168605. phenotype.
607641. phenotype.
OpenTargetsiENSG00000204843.
Orphaneti803. Amyotrophic lateral sclerosis.
139589. Distal hereditary motor neuropathy type 7.
178509. Perry syndrome.
PharmGKBiPA27180.

Polymorphism and mutation databases

BioMutaiDCTN1.
DMDMi17375490.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000835181 – 1278Dynactin subunit 1Add BLAST1278

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
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

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

EPDiQ14203.
MaxQBiQ14203.
PaxDbiQ14203.
PeptideAtlasiQ14203.
PRIDEiQ14203.

2D gel databases

OGPiQ14203.

PTM databases

iPTMnetiQ14203.
PhosphoSitePlusiQ14203.
SwissPalmiQ14203.

Miscellaneous databases

PMAP-CutDBQ14203.

Expressioni

Tissue specificityi

Brain.

Gene expression databases

BgeeiENSG00000204843.
CleanExiHS_DCTN1.
ExpressionAtlasiQ14203. baseline and differential.
GenevisibleiQ14203. HS.

Organism-specific databases

HPAiCAB009108.
HPA034635.

Interactioni

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, ECM29 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 (By similarity).By similarity22 Publications

Binary interactionsi

WithEntry#Exp.IntActNotes
ACTR1BP420253EBI-724352,EBI-367493
BBS4Q96RK43EBI-724352,EBI-1805814
Hap1P542564EBI-724352,EBI-994539From a different organism.
MAPTP10636-88EBI-724352,EBI-366233

GO - Molecular functioni

  • microtubule binding Source: UniProtKB
  • tubulin binding Source: UniProtKB

Protein-protein interaction databases

BioGridi108007. 235 interactors.
DIPiDIP-31365N.
IntActiQ14203. 197 interactors.
MINTiMINT-5004548.
STRINGi9606.ENSP00000354791.

Structurei

Secondary structure

11278
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Beta strandi17 – 19Combined sources3
Beta strandi32 – 35Combined sources4
Turni36 – 38Combined sources3
Beta strandi41 – 48Combined sources8
Beta strandi51 – 55Combined sources5
Beta strandi57 – 65Combined sources9
Beta strandi67 – 73Combined sources7
Beta strandi76 – 78Combined sources3
Turni83 – 85Combined sources3
Beta strandi86 – 89Combined sources4
Helixi91 – 93Combined sources3
Beta strandi94 – 96Combined sources3

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
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[»]
ProteinModelPortaliQ14203.
SMRiQ14203.
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiQ14203.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini48 – 90CAP-GlyPROSITE-ProRule annotationAdd BLAST43

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni911 – 1278Interaction with HPS61 PublicationAdd BLAST368

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Coiled coili213 – 547Sequence analysisAdd BLAST335
Coiled coili943 – 1049Sequence analysisAdd BLAST107
Coiled coili1182 – 1211Sequence analysisAdd BLAST30

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi164 – 191Ser-richAdd BLAST28

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

Sequence similaritiesi

Belongs to the dynactin 150 kDa subunit family.Curated
Contains 1 CAP-Gly domain.PROSITE-ProRule annotation

Keywords - Domaini

Coiled coil

Phylogenomic databases

eggNOGiKOG0971. Eukaryota.
COG5244. LUCA.
GeneTreeiENSGT00860000133787.
HOGENOMiHOG000015352.
HOVERGENiHBG004956.
InParanoidiQ14203.
KOiK04648.
OMAiPEDSTMQ.
OrthoDBiEOG091G0WO0.
PhylomeDBiQ14203.
TreeFamiTF105246.

Family and domain databases

Gene3Di2.30.30.190. 1 hit.
InterProiIPR000938. CAP-Gly_domain.
IPR027663. DCTN1.
IPR022157. Dynactin.
[Graphical view]
PANTHERiPTHR18916:SF40. PTHR18916:SF40. 1 hit.
PfamiPF01302. CAP_GLY. 1 hit.
PF12455. Dynactin. 1 hit.
[Graphical view]
SMARTiSM01052. CAP_GLY. 1 hit.
[Graphical view]
SUPFAMiSSF74924. SSF74924. 1 hit.
PROSITEiPS00845. CAP_GLY_1. 1 hit.
PS50245. CAP_GLY_2. 1 hit.
[Graphical view]

Sequences (6)i

Sequence statusi: Complete.

This entry describes 6 isoformsi produced by alternative splicing. AlignAdd to basket

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

This isoform has been chosen as the 'canonical' 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
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.

Note: No experimental confirmation available.
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.

Note: No experimental confirmation available.
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.

Note: No experimental confirmation available.
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.

Note: No experimental confirmation available.
Show »
Length:1,271
Mass (Da):140,887
Checksum:i7BCE4BF282947485
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
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 Publication1
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 rs121909342dbSNPEnsembl.1
Natural variantiVAR_06386771G → A in PERRYS. 1 PublicationCorresponds to variant rs67586389dbSNPEnsembl.1
Natural variantiVAR_06386871G → E in PERRYS. 1 PublicationCorresponds to variant rs67586389dbSNPEnsembl.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 rs72466485dbSNPEnsembl.1
Natural variantiVAR_06387072T → P in PERRYS. 1 PublicationCorresponds to variant rs72466486dbSNPEnsembl.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 rs72466487dbSNPEnsembl.1
Natural variantiVAR_07145378Y → C in PERRYS; significantly reduced microtubule binding. 1 Publication1
Natural variantiVAR_001373163A → P.1
Natural variantiVAR_076920196I → V No effect of its interaction with TBCB; no loss of localization to microtubules. 2 Publications1
Natural variantiVAR_048677287L → M.Corresponds to variant rs13420401dbSNPEnsembl.1
Natural variantiVAR_048678495R → Q.1 PublicationCorresponds to variant rs17721059dbSNPEnsembl.1
Natural variantiVAR_063872571M → T in ALS; associated with disease susceptibility. 1 PublicationCorresponds to variant rs121909343dbSNPEnsembl.1
Natural variantiVAR_073287670Y → F Found in a patient with hereditary motor and sensory neuropathy; unknown pathological significance. 1 Publication1
Natural variantiVAR_063873785R → W in ALS; associated with disease susceptibility. 1 PublicationCorresponds to variant rs121909344dbSNPEnsembl.1
Natural variantiVAR_0638741101R → K in ALS; associated with disease susceptibility. 1 PublicationCorresponds to variant rs121909345dbSNPEnsembl.1
Natural variantiVAR_0638751249T → I in ALS; unknown pathological significance. 3 PublicationsCorresponds to variant rs72466496dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
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:
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
, AF086927, AF086928, AF086929, AF086930, AF086931, AF086932, AF086933, AF086934, AF086935, AF086936, AF086937, AF086938, AF086939, AF086940, AF086941, AF086942, AF086943, AF086944, AF086945, 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]
UniGeneiHs.516111.

Genome annotation databases

EnsembliENST00000361874; ENSP00000354791; ENSG00000204843. [Q14203-1]
ENST00000394003; ENSP00000377571; ENSG00000204843. [Q14203-6]
ENST00000409240; ENSP00000386406; ENSG00000204843. [Q14203-3]
ENST00000409438; ENSP00000387270; ENSG00000204843. [Q14203-5]
ENST00000409567; ENSP00000386843; ENSG00000204843. [Q14203-4]
ENST00000633691; ENSP00000487724; ENSG00000204843. [Q14203-2]
GeneIDi1639.
KEGGihsa:1639.
UCSCiuc002sku.4. human. [Q14203-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

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
, AF086927, AF086928, AF086929, AF086930, AF086931, AF086932, AF086933, AF086934, AF086935, AF086936, AF086937, AF086938, AF086939, AF086940, AF086941, AF086942, AF086943, AF086944, AF086945, 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]
UniGeneiHs.516111.

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
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[»]
ProteinModelPortaliQ14203.
SMRiQ14203.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi108007. 235 interactors.
DIPiDIP-31365N.
IntActiQ14203. 197 interactors.
MINTiMINT-5004548.
STRINGi9606.ENSP00000354791.

PTM databases

iPTMnetiQ14203.
PhosphoSitePlusiQ14203.
SwissPalmiQ14203.

Polymorphism and mutation databases

BioMutaiDCTN1.
DMDMi17375490.

2D gel databases

OGPiQ14203.

Proteomic databases

EPDiQ14203.
MaxQBiQ14203.
PaxDbiQ14203.
PeptideAtlasiQ14203.
PRIDEiQ14203.

Protocols and materials databases

DNASUi1639.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000361874; ENSP00000354791; ENSG00000204843. [Q14203-1]
ENST00000394003; ENSP00000377571; ENSG00000204843. [Q14203-6]
ENST00000409240; ENSP00000386406; ENSG00000204843. [Q14203-3]
ENST00000409438; ENSP00000387270; ENSG00000204843. [Q14203-5]
ENST00000409567; ENSP00000386843; ENSG00000204843. [Q14203-4]
ENST00000633691; ENSP00000487724; ENSG00000204843. [Q14203-2]
GeneIDi1639.
KEGGihsa:1639.
UCSCiuc002sku.4. human. [Q14203-1]

Organism-specific databases

CTDi1639.
DisGeNETi1639.
GeneCardsiDCTN1.
GeneReviewsiDCTN1.
H-InvDBHIX0204314.
HGNCiHGNC:2711. DCTN1.
HPAiCAB009108.
HPA034635.
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.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG0971. Eukaryota.
COG5244. LUCA.
GeneTreeiENSGT00860000133787.
HOGENOMiHOG000015352.
HOVERGENiHBG004956.
InParanoidiQ14203.
KOiK04648.
OMAiPEDSTMQ.
OrthoDBiEOG091G0WO0.
PhylomeDBiQ14203.
TreeFamiTF105246.

Enzyme and pathway databases

BioCyciZFISH:G66-31235-MONOMER.
ReactomeiR-HSA-2132295. MHC class II antigen presentation.
R-HSA-2565942. Regulation of PLK1 Activity at G2/M Transition.
R-HSA-380259. Loss of Nlp from mitotic centrosomes.
R-HSA-380270. Recruitment of mitotic centrosome proteins and complexes.
R-HSA-381038. XBP1(S) activates chaperone genes.
R-HSA-5620912. Anchoring of the basal body to the plasma membrane.
R-HSA-6807878. COPI-mediated anterograde transport.
R-HSA-6811436. COPI-independent Golgi-to-ER retrograde traffic.
R-HSA-8854518. AURKA Activation by TPX2.
SIGNORiQ14203.

Miscellaneous databases

ChiTaRSiDCTN1. human.
EvolutionaryTraceiQ14203.
GeneWikiiDCTN1.
GenomeRNAii1639.
PMAP-CutDBQ14203.
PROiQ14203.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000204843.
CleanExiHS_DCTN1.
ExpressionAtlasiQ14203. baseline and differential.
GenevisibleiQ14203. HS.

Family and domain databases

Gene3Di2.30.30.190. 1 hit.
InterProiIPR000938. CAP-Gly_domain.
IPR027663. DCTN1.
IPR022157. Dynactin.
[Graphical view]
PANTHERiPTHR18916:SF40. PTHR18916:SF40. 1 hit.
PfamiPF01302. CAP_GLY. 1 hit.
PF12455. Dynactin. 1 hit.
[Graphical view]
SMARTiSM01052. CAP_GLY. 1 hit.
[Graphical view]
SUPFAMiSSF74924. SSF74924. 1 hit.
PROSITEiPS00845. CAP_GLY_1. 1 hit.
PS50245. CAP_GLY_2. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiDCTN1_HUMAN
AccessioniPrimary (citable) accession number: Q14203
Secondary accession number(s): A8MY36
, B4DM45, E9PFS5, E9PGE1, G5E9H4, O95296, Q6IQ37, Q9BRM9, Q9UIU1, Q9UIU2
Entry historyi
Integrated into UniProtKB/Swiss-Prot: November 1, 1997
Last sequence update: October 18, 2001
Last modified: November 30, 2016
This is version 171 of the entry and version 3 of the sequence. [Complete history]
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.

Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

  1. Human chromosome 2
    Human chromosome 2: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  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

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.