Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	1639
Gene name Gene Name - the full gene name approved by the HGNC.	Dynactin subunit 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	DCTN1
Synonyms (NCBI Gene) Gene synonyms aliases	DAP-150, DP-150, HMND14, P135
Chromosome Chromosome number	2
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	2p13.1
Summary Summary of gene provided in NCBI Entrez Gene.	This gene encodes the largest subunit of dynactin, a macromolecular complex consisting of 10 subunits ranging in size from 22 to 150 kD. Dynactin binds to both microtubules and cytoplasmic dynein. Dynactin is involved in a diverse array of cellular functi

Show/Hide all(21)

SNP ID	Visualize variation	Clinical significance	Consequence
rs55862001	T>C	Likely-benign, benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant, non coding transcript variant
rs67586389	C>G,T	Pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant, non coding transcript variant
rs72466485	C>T	Pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant, non coding transcript variant
rs72466486	T>G	Pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant, non coding transcript variant
rs72466487	T>C,G	Pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant, non coding transcript variant
rs72466489	C>T	Likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant, non coding transcript variant
rs72466494	C>T	Benign, likely-benign, conflicting-interpretations-of-pathogenicity	Intron variant
rs72466496	G>A	Benign, risk-factor, likely-benign, benign-likely-benign	Coding sequence variant, missense variant, non coding transcript variant
rs72659383	C>T	Likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant, non coding transcript variant
rs121909342	C>G,T	Uncertain-significance, pathogenic	Non coding transcript variant, genic upstream transcript variant, coding sequence variant, missense variant
rs121909343	A>G	Risk-factor	Non coding transcript variant, coding sequence variant, missense variant
rs121909344	G>A,C	Uncertain-significance, risk-factor	Non coding transcript variant, coding sequence variant, missense variant
rs121909345	C>T	Risk-factor	Non coding transcript variant, coding sequence variant, missense variant
rs150204862	C>T	Likely-benign, conflicting-interpretations-of-pathogenicity	Genic upstream transcript variant, coding sequence variant, synonymous variant, non coding transcript variant
rs200834352	C>T	Likely-pathogenic, likely-benign	Coding sequence variant, non coding transcript variant, missense variant
rs377519506	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, non coding transcript variant, synonymous variant
rs566433112	T>C	Pathogenic, uncertain-significance	Genic upstream transcript variant, non coding transcript variant, missense variant, coding sequence variant
rs886039227	A>C	Pathogenic	Coding sequence variant, non coding transcript variant, genic upstream transcript variant, missense variant
rs886039228	C>T	Pathogenic	Coding sequence variant, non coding transcript variant, genic upstream transcript variant, missense variant
rs886039229	T>C	Pathogenic	Coding sequence variant, non coding transcript variant, genic upstream transcript variant, missense variant
rs1393363759	C>A,G,T	Uncertain-significance, likely-pathogenic	Splice donor variant, genic upstream transcript variant

Show/Hide all(49)

miRTarBase ID	miRNA	Experiments	Reference
MIRT050276	hsa-miR-25-3p	CLASH	23622248
MIRT048854	hsa-miR-93-5p	CLASH	23622248
MIRT044073	hsa-miR-361-5p	CLASH	23622248
MIRT036100	hsa-miR-1296-5p	CLASH	23622248
MIRT927127	hsa-miR-3064-5p	CLIP-seq
MIRT927128	hsa-miR-3179	CLIP-seq
MIRT927129	hsa-miR-4446-3p	CLIP-seq
MIRT927130	hsa-miR-4656	CLIP-seq
MIRT927131	hsa-miR-4687-3p	CLIP-seq
MIRT927132	hsa-miR-4721	CLIP-seq
MIRT927133	hsa-miR-125a-5p	CLIP-seq
MIRT927134	hsa-miR-125b	CLIP-seq
MIRT927135	hsa-miR-127-5p	CLIP-seq
MIRT927136	hsa-miR-1909	CLIP-seq
MIRT927137	hsa-miR-214	CLIP-seq
MIRT927127	hsa-miR-3064-5p	CLIP-seq
MIRT927138	hsa-miR-3173-3p	CLIP-seq
MIRT927128	hsa-miR-3179	CLIP-seq
MIRT927139	hsa-miR-3619-5p	CLIP-seq
MIRT927140	hsa-miR-3664-3p	CLIP-seq
MIRT927141	hsa-miR-4319	CLIP-seq
MIRT927142	hsa-miR-4419a	CLIP-seq
MIRT927129	hsa-miR-4446-3p	CLIP-seq
MIRT927143	hsa-miR-4476	CLIP-seq
MIRT927144	hsa-miR-4492	CLIP-seq
MIRT927145	hsa-miR-4498	CLIP-seq
MIRT927146	hsa-miR-4510	CLIP-seq
MIRT927147	hsa-miR-4533	CLIP-seq
MIRT927148	hsa-miR-4640-3p	CLIP-seq
MIRT927149	hsa-miR-4649-3p	CLIP-seq
MIRT927130	hsa-miR-4656	CLIP-seq
MIRT927131	hsa-miR-4687-3p	CLIP-seq
MIRT927132	hsa-miR-4721	CLIP-seq
MIRT927150	hsa-miR-4749-3p	CLIP-seq
MIRT927151	hsa-miR-4779	CLIP-seq
MIRT927152	hsa-miR-486-3p	CLIP-seq
MIRT927153	hsa-miR-544b	CLIP-seq
MIRT927154	hsa-miR-615-5p	CLIP-seq
MIRT927155	hsa-miR-761	CLIP-seq
MIRT927156	hsa-miR-762	CLIP-seq
MIRT927157	hsa-miR-873	CLIP-seq
MIRT927158	hsa-miR-887	CLIP-seq
MIRT1974580	hsa-miR-1286	CLIP-seq
MIRT927128	hsa-miR-3179	CLIP-seq
MIRT1974581	hsa-miR-4688	CLIP-seq
MIRT1974582	hsa-miR-4766-5p	CLIP-seq
MIRT927152	hsa-miR-486-3p	CLIP-seq
MIRT1974583	hsa-miR-488	CLIP-seq
MIRT1974584	hsa-miR-662	CLIP-seq

Show/Hide all(78)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000132	Process	Establishment of mitotic spindle orientation	IBA
GO:0000132	Process	Establishment of mitotic spindle orientation	IMP	22327364
GO:0000278	Process	Mitotic cell cycle	NAS	1828535
GO:0000776	Component	Kinetochore	IBA
GO:0000776	Component	Kinetochore	IDA	19468067, 23027904
GO:0000922	Component	Spindle pole	IBA
GO:0000922	Component	Spindle pole	IDA	14718566
GO:0000922	Component	Spindle pole	IEA
GO:0005515	Function	Protein binding	IPI	9361024, 9722614, 12857853, 15107855, 17139249, 17532294, 17828275, 17828277, 17932487, 18000879, 18615096, 18922795, 19619496, 19935774, 20133940, 20679239, 20719959, 20978158, 22159412, 22261744, 22777741, 22797915, 23414759, 23524952, 23574715, 23874158, 24867236, 24997520, 25189
GO:0005634	Component	Nucleus	IEA
GO:0005635	Component	Nuclear envelope	IDA	20679239
GO:0005635	Component	Nuclear envelope	IEA
GO:0005737	Component	Cytoplasm	IDA	18305234
GO:0005737	Component	Cytoplasm	IEA
GO:0005737	Component	Cytoplasm	TAS	1828535
GO:0005813	Component	Centrosome	IDA	20719959, 21399614, 23985322, 25774020
GO:0005813	Component	Centrosome	IEA
GO:0005814	Component	Centriole	IDA	23213374, 23386061, 25774020
GO:0005814	Component	Centriole	IEA
GO:0005819	Component	Spindle	IDA	25774020
GO:0005819	Component	Spindle	IEA
GO:0005829	Component	Cytosol	IDA
GO:0005829	Component	Cytosol	TAS
GO:0005856	Component	Cytoskeleton	IEA
GO:0005874	Component	Microtubule	IDA	21525035, 22777741, 25774020
GO:0005874	Component	Microtubule	IEA
GO:0005875	Component	Microtubule associated complex	IBA
GO:0005875	Component	Microtubule associated complex	IMP	16505168
GO:0005929	Component	Cilium	IDA
GO:0005938	Component	Cell cortex	IDA	23509069
GO:0005938	Component	Cell cortex	IDA	23027904
GO:0005938	Component	Cell cortex	IEA
GO:0007097	Process	Nuclear migration	IBA
GO:0007399	Process	Nervous system development	NAS	17360970
GO:0007528	Process	Neuromuscular junction development	IMP	18305234
GO:0008017	Function	Microtubule binding	IDA	23874158, 26972003
GO:0008017	Function	Microtubule binding	IEA
GO:0008017	Function	Microtubule binding	IMP	16505168
GO:0010457	Process	Centriole-centriole cohesion	IMP	23386061
GO:0015630	Component	Microtubule cytoskeleton	IDA
GO:0015630	Component	Microtubule cytoskeleton	IEA
GO:0015631	Function	Tubulin binding	IDA	23874158
GO:0016020	Component	Membrane	HDA	19946888
GO:0019901	Function	Protein kinase binding	IPI	17139249
GO:0021517	Process	Ventral spinal cord development	IMP	18305234
GO:0030286	Component	Dynein complex	IEA
GO:0030424	Component	Axon	IBA
GO:0030904	Component	Retromer complex	IDA	19619496
GO:0031116	Process	Positive regulation of microtubule polymerization	IDA	23874158
GO:0031116	Process	Positive regulation of microtubule polymerization	IMP	16505168
GO:0031252	Component	Cell leading edge	IEA
GO:0032402	Process	Melanosome transport	IEA
GO:0032991	Component	Protein-containing complex	IEA
GO:0034454	Process	Microtubule anchoring at centrosome	IMP	23386061
GO:0035371	Component	Microtubule plus-end	IDA	26972003
GO:0035371	Component	Microtubule plus-end	IEA
GO:0036064	Component	Ciliary basal body	IDA
GO:0036064	Component	Ciliary basal body	IEA
GO:0042147	Process	Retrograde transport, endosome to Golgi	IMP	19619496
GO:0043005	Component	Neuron projection	IDA	18364389
GO:0043025	Component	Neuronal cell body	IDA	18364389
GO:0045171	Component	Intercellular bridge	IDA
GO:0048156	Function	Tau protein binding	NAS	28386764
GO:0050905	Process	Neuromuscular process	IMP	18305234
GO:0051081	Process	Nuclear membrane disassembly	IMP	20679239
GO:0051301	Process	Cell division	IEA
GO:0060236	Process	Regulation of mitotic spindle organization	IMP	23027904
GO:0061744	Process	Motor behavior	IMP	18305234, 18364389
GO:0070050	Process	Neuron cellular homeostasis	IMP	18305234
GO:0072686	Component	Mitotic spindle	IDA
GO:0090063	Process	Positive regulation of microtubule nucleation	IDA	23874158
GO:0098930	Process	Axonal transport	IMP	18364389
GO:0099558	Process	Maintenance of synapse structure	TAS	18305234
GO:0099738	Component	Cell cortex region	IDA	22327364
GO:0120103	Component	Centriolar subdistal appendage	IDA	23213374
GO:1904398	Process	Positive regulation of neuromuscular junction development	IMP	18364389
GO:1905515	Process	Non-motile cilium assembly	IMP	25774020
GO:1990535	Process	Neuron projection maintenance	IMP	18305234, 18364389

MIM	HGNC	e!Ensembl
601143	2711	ENSG00000204843

Protein

UniProt ID

Q14203

Protein name

Dynactin subunit 1 (150 kDa dynein-associated polypeptide) (DAP-150) (DP-150) (p135) (p150-glued)

Protein function

Part of the dynactin complex that activates the molecular motor dynein for ultra-processive transport along microtubules (By similarity). Plays a key role in dynein-mediated retrograde transport of vesicles and organelles along microtubules by r

PDB

1TXQ , 2COY , 2HKN , 2HKQ , 2HL3 , 2HL5 , 2HQH , 3E2U , 3TQ7

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF01302	CAP_GLY	29 → 94	CAP-Gly domain	Domain
PF12455	Dynactin	523 → 805	Dynein associated protein	Family

Tissue specificity

TISSUE SPECIFICITY: Brain.

Sequence

MAQSKRHVYSRTPSGSRMSAEASARPLRVGSRVEVIGKGHRGTVAYVGATLFATGKWVGV
ILDEAKGKNDGTVQGRKYFTCDEGHGIFVRQSQIQVFEDGADTTSPETPDSSASKVLKRE
GTDTTAKTSKLRGLKPKKAPTARKTTTRRPKPTRPASTGVAGASSSLGPSGSASAGELSS
SEPSTPAQTPLAAPIIPTPVLTSPGAVPPLPSPSKEEEGLRAQVRDLEEKLETLRLKRAE
DKAKLKELEKHKIQLEQVQEWKSKMQEQQADLQRRLKEARKEAKEALEAKERYMEEMADT
ADAIEMATLDKEMAEERAESLQQEVEALKERVDELTTDLEILKAEIEEKGSDGAASSYQL
KQLEEQNARLKDALVRMRDLSSSEKQEHVKLQKLMEKKNQELEVVRQQRERLQEELSQAE
STIDELKEQVDAALGAEEMVEMLTDRNLNLEEKVRELRETVGDLEAMNEMNDELQENARE
TELELREQLDMAGARVREAQKRVEAAQETVADYQQTIKKYRQLTAHLQDVNRELTNQQEA
SVERQQQPPPETFDFKIKFAETKAHAKAIEMELRQMEVAQANRHMSLLTAFMPDSFLRPG
GDHDCVLVLLLMPRLICKAELIRKQAQEKFELSENCSERPGLRGAAGEQLSFAAGLVYSL
SLLQATLHRYEHALSQCSVDVYKKVGSLYPEMSAHERSLDFLIELLHKDQLDETVNVEPL
TKAIKYYQHLYSIHLAEQPEDCTMQLADHIKFTQSALDCMSVEVGRLRAFLQGGQEATDI
ALLLRDLETSCSDIRQFCKKIRRRMPGTDAPGIPAALAFGPQVSDTLLDCRKHLTWVVAV
LQEVAAAAAQLIAPLAENEGLLVAALEELAFKASEQIYGTPSSSPYECLRQSCNILISTM
NKLATAMQEGEYDAERPPSKPPPVELRAAALRAEITDAEGLGLKLEDRETVIKELKKSLK
IKGEELSEANVRLSLLEKKLDSAAKDADERIEKVQTRLEETQALLRKKEKEFEETMDALQ
ADIDQLEAEKAELKQRLNSQSKRTIEGLRGPPPSGIATLVSGIAGEEQQRGAIPGQAPGS
VPGPGLVKDSPLLLQQISAMRLHISQLQHENSILKGAQMKASLASLPPLHVAKLSHEGPG
SELPAGALYRKTSQLLETLNQLSTHTHVVDITRTSPAAKSPSAQLMEQVAQLKSLSDTVE
KLKDEVLKETVSQRPGATVPTDFATFPSSAFLRAKEEQQDDTVYMGKVTFSCAAGFGQRH
RLVLTQEQLHQLHSRLIS

Sequence length

1278

Interactions

View interactions

	KEGG		Reactome
	Motor proteins Vasopressin-regulated water reabsorption Amyotrophic lateral sclerosis Huntington disease Pathways of neurodegeneration - multiple diseases Salmonella infection		MHC class II antigen presentation Regulation of PLK1 Activity at G2/M Transition HSP90 chaperone cycle for steroid hormone receptors (SHR) Loss of Nlp from mitotic centrosomes Recruitment of mitotic centrosome proteins and complexes Loss of proteins required for interphase microtubule organization from the centrosome Recruitment of NuMA to mitotic centrosomes XBP1(S) activates chaperone genes Anchoring of the basal body to the plasma membrane COPI-mediated anterograde transport COPI-independent Golgi-to-ER retrograde traffic AURKA Activation by TPX2

Show/Hide Causal Diseases (3)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Amyotrophic Lateral Sclerosis	amyotrophic lateral sclerosis	rs1393363759	N/A
Distal Hereditary Motor Neuronopathy	Neuronopathy, distal hereditary motor, type 7B	rs121909342	N/A
Perry Syndrome	perry syndrome	rs886039227, rs121909342, rs72466487, rs67586389	N/A

Show/Hide Unknown Diseases (4)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Charcot-Marie-Tooth Disease	Charcot-Marie-Tooth Disease	N/A	N/A	ClinVar
Distal Spinal Muscular Atrophy	distal spinal muscular atrophy	N/A	N/A	ClinVar
Frontotemporal dementia	frontotemporal dementia	N/A	N/A	ClinVar
Parkinson disease	Parkinsonian disorder	N/A	N/A	ClinVar

Show/Hide Text Mining Associations (47)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Adenocarcinoma of Lung	Associate	35212154
Amyotrophic Lateral Sclerosis	Associate	23755159, 24343258, 25957632, 28792508, 32023010, 37208601
Amyotrophic lateral sclerosis 1	Associate	28792508
Atrophy	Associate	32023010
Basal Ganglia Diseases	Associate	25957632
Bipolar Disorder	Associate	32325768
Brain Injuries Traumatic	Associate	31038188
Carcinoma Pancreatic Ductal	Associate	28167572
Charcot Marie Tooth Disease	Associate	27025386
Congenital central hypoventilation syndrome	Associate	24343258
Dementia	Associate	24343258, 37330543
Depressive Disorder	Associate	29089398
Diabetes Mellitus	Associate	36837510
Diffuse Lewy Body Disease with Gaze Palsy	Associate	20437543
Distal Hereditary Motor Neuropathy Type II	Associate	32023010
Dyskinesia Drug Induced	Associate	20437543
Foot Deformities	Associate	32023010
Foot Deformities Congenital	Associate	32023010
Frontotemporal Dementia	Associate	19506225, 24343258, 35964197
Genetic Diseases Inborn	Associate	24343258
Heart Diseases	Associate	24797316
Histiocytoma Benign Fibrous	Associate	29327718
Inherited Peripheral Neuropathy	Associate	27025386
Lewy Body Disease	Associate	31996268
Limb girdle muscular dystrophy type 2B	Associate	9805007
Lymphoma Non Hodgkin	Associate	33896271
Melanoma Cutaneous Malignant	Associate	29864111
Mental Disorders	Associate	20437543, 24343258, 32325768
Motor Neuron Disease	Associate	19136952, 19506225, 40424855
Muscle Weakness	Associate	32023010
Muscular Dystrophies Limb Girdle	Associate	9805007
Nervous System Diseases	Associate	24797316
Neurodegenerative Diseases	Associate	19136952, 19506225, 37330543
Neuronopathy Distal Hereditary Motor Type V	Associate	32023010
Obesity	Associate	36837510
Parkinson Disease Secondary	Associate	24343258, 25957632, 29089398
Perry Syndrome	Associate	19136952, 19506225, 20437543, 24343258, 24881494, 29089398, 38267040
Respiratory Insufficiency	Associate	20437543
Signs and Symptoms Respiratory	Associate	29089398
Spastic Paraplegia Hereditary	Associate	25957632
Spinal Diseases	Associate	28792508
Stomach Neoplasms	Associate	26330360
Supranuclear Palsy Progressive	Associate	24343258, 35842134
Thyroid Cancer Papillary	Associate	36686473
Thyroiditis	Associate	36686473
Vitiligo	Associate	32756109
Weight Loss	Associate	24343258, 29089398

DCTN1 (dynactin subunit 1)