DCTN1 - dynactin subunit 1 Gene

Also Known as P135; DP-150; DAP-150

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 1639

About DCTN1

Cytogenetic location: 2p13.1 Genomic coordinates (GRCh38): 2:74,361,155-74,391,866 (from NCBI)

This gene has 28 transcripts (splice variants), 268 orthologues, 4 paralogues and is associated with 73 phenotypes. Ubiquitous expression in brain (RPKM 71.1), testis (RPKM 43.6) and 25 other tissues.

Summary

This gene encodes the largest subunit of dynactin, a macromolecular complex consisting of 10 subunits ranging in size from 22 to 150 kD. Dynactin binds to both microtubules and cytoplasmic dynein. Dynactin is involved in a diverse array of cellular functions, including ER-to-Golgi transport, the centripetal movement of lysosomes and endosomes, spindle formation, chromosome movement, nuclear positioning, and axonogenesis. This subunit interacts with dynein intermediate chain by its domains directly binding to dynein and binds to microtubules via a highly conserved glycine-rich cytoskeleton-associated protein (CAP-Gly) domain in its N-terminus. Alternative splicing of this gene results in multiple transcript variants encoding distinct isoforms. Mutations in this gene cause distal hereditary motor neuronopathy type VIIB (HMN7B) which is also known as distal spinal and bulbar muscular atrophy (dSBMA). [provided by RefSeq, Oct 2008]

DCTN1 Products (8)

mRNA Protein Name
NM_001135040.3 NP_001128512.1 dynactin subunit 1 isoform 3
NM_001135041.3 NP_001128513.1 dynactin subunit 1 isoform 4
NM_001190836.2 NP_001177765.1 dynactin subunit 1 isoform 5
NM_001190837.2 NP_001177766.1 dynactin subunit 1 isoform 6
NM_001378991.1 NP_001365920.1 dynactin subunit 1 isoform 7
NM_001378992.1 NP_001365921.1 dynactin subunit 1 isoform 8
NM_004082.5 NP_004073.2 dynactin subunit 1 isoform 1
NM_023019.4 NP_075408.1 dynactin subunit 1 isoform 2
Molecular Function GO Annotation Evidence References Source
enables microtubule binding IDA
IDA: Inferred from direct assay
23874158 GOA
enables microtubule binding IMP
IMP: Inferred from mutant phenotype
16505168 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
9361024 GOA
enables protein kinase binding IPI
IPI: Inferred from physical interaction
17139249 GOA
enables tubulin binding IDA
IDA: Inferred from direct assay
23874158 GOA
Biological Process GO Annotation Evidence References Source
NOT involved in axonal transport IMP
IMP: Inferred from mutant phenotype
18364389 GOA
involved in centriole-centriole cohesion IMP
IMP: Inferred from mutant phenotype
23386061 GOA
involved in establishment of mitotic spindle orientation IMP
IMP: Inferred from mutant phenotype
22327364 GOA
involved in microtubule anchoring at centrosome IMP
IMP: Inferred from mutant phenotype
23386061 GOA
involved in motor behavior IMP
IMP: Inferred from mutant phenotype
18305234 GOA
involved in neuromuscular junction development IMP
IMP: Inferred from mutant phenotype
18305234 GOA
involved in neuromuscular process IMP
IMP: Inferred from mutant phenotype
18305234 GOA
involved in neuron cellular homeostasis IMP
IMP: Inferred from mutant phenotype
18305234 GOA
involved in neuron projection maintenance IMP
IMP: Inferred from mutant phenotype
18305234 GOA
involved in non-motile cilium assembly IMP
IMP: Inferred from mutant phenotype
25774020 GOA
involved in nuclear membrane disassembly IMP
IMP: Inferred from mutant phenotype
20679239 GOA
involved in positive regulation of microtubule nucleation IDA
IDA: Inferred from direct assay
23874158 GOA
involved in positive regulation of microtubule polymerization IDA
IDA: Inferred from direct assay
23874158 GOA
involved in positive regulation of microtubule polymerization IMP
IMP: Inferred from mutant phenotype
16505168 GOA
involved in positive regulation of neuromuscular junction development IMP
IMP: Inferred from mutant phenotype
18364389 GOA
involved in regulation of mitotic spindle organization IMP
IMP: Inferred from mutant phenotype
23027904 GOA
involved in retrograde transport, endosome to Golgi IMP
IMP: Inferred from mutant phenotype
19619496 GOA
involved in ventral spinal cord development IMP
IMP: Inferred from mutant phenotype
18305234 GOA
Cellular Component GO Annotation Evidence References Source
colocalizes with cell cortex IDA
IDA: Inferred from direct assay
23509069 GOA
located in cell cortex IDA
IDA: Inferred from direct assay
23027904 GOA
located in cell cortex region IDA
IDA: Inferred from direct assay
22327364 GOA
part of centriolar subdistal appendage IDA
IDA: Inferred from direct assay
23213374 GOA
located in centriole IDA
IDA: Inferred from direct assay
23213374 GOA
located in centrosome IDA
IDA: Inferred from direct assay
20719959 GOA
located in cytoplasm IDA
IDA: Inferred from direct assay
18305234 GOA
located in kinetochore IDA
IDA: Inferred from direct assay
19468067 GOA
located in microtubule IDA
IDA: Inferred from direct assay
21525035 GOA
part of microtubule associated complex IMP
IMP: Inferred from mutant phenotype
16505168 GOA
located in microtubule plus-end IDA
IDA: Inferred from direct assay
26972003 GOA
located in neuron projection IDA
IDA: Inferred from direct assay
18364389 GOA
located in neuronal cell body IDA
IDA: Inferred from direct assay
18364389 GOA
located in nuclear envelope IDA
IDA: Inferred from direct assay
20679239 GOA
part of retromer complex IDA
IDA: Inferred from direct assay
19619496 GOA
located in spindle IDA
IDA: Inferred from direct assay
25774020 GOA
located in spindle pole IDA
IDA: Inferred from direct assay
14718566 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

DCTN1 Protein Structure

CAP_GLY

CAP_GLY: CAP-Gly domain (29 - 94)

Dynactin

Dynactin: Dynein associated protein (526 - 805)

  • 0
  • 200
  • 400
  • 600
  • 800
  • 1000
  • 1200
  • 1278 a.a.
Protein Preferred Names Protein Names

dynactin subunit 1

  • 150 kDa dynein-associated polypeptide

DCTN1 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
DCTN1 Q14203 MAPRE1 Homo sapiens Q15691
ITC
17828277
Intra
DCTN1 Q14203 MAPRE1 Homo sapiens Q15691 26638075
Intra
DCTN1 Q14203 BBS4 Homo sapiens Q96RK4
Y2H
18000879
Intra
DCTN1 Q14203 BBS4 Homo sapiens Q96RK4
Y2H
15107855
Intra
DCTN1 Q14203 MAPT Homo sapiens P10636-8 17932487
Intra
DCTN1 Q14203 MAPT Homo sapiens P10636-8 17932487
Intra
DCTN1 Q14203 MAPT Homo sapiens P10636-8
Y2H
17932487
Intra
DCTN1 Q14203 MAPT Homo sapiens P10636-8
IF
17932487
Intra
DCTN1 Q14203 ACTR1B Homo sapiens P42025 33961781
Intra
DCTN1 Q14203 ACTR1B Homo sapiens P42025 26638075
Intra
DCTN1 Q14203 SNX6 Homo sapiens Q9UNH7 23524952
Intra
DCTN1 Q14203 CLIP1 Homo sapiens P30622-1
SLS
17828277
Intra
DCTN1 Q14203 CLIP1 Homo sapiens P30622-1 17828277
Intra
DCTN1 Q14203 CLIP1 Homo sapiens P30622-1
ITC
17828277
Intra
DCTN1 Q14203 CLIP1 Homo sapiens P30622-1
GMS
17828277
Cross
DCTN1 Q14203 Hap1 Rattus norvegicus P54256 9361024
Cross: Cross-species interaction Intra: Intraspecies interaction

Recombinant DCTN1 Proteins

Cat. No. Product Name Accession Purity
HY-P71542 DCTN1 Protein, Human (His-SUMO) Q14203 (P213-Q547) ≥ 90%, as determined by reducing SDS-PAGE.

DCTN1 Antibodies

Cat. No. Product Name Application Reactivity
HY-P81027 Dynactin 1 Antibody (YA869) WB, IP Human
HY-P85427 Dynactin 1 Antibody (YA5119) WB, ICC/IF Human, Mouse, Bovine, Pig
HY-P85488 Dynactin 1(N-term) Antibody (YA5180) WB, IP Human

Related Diseases

Diseases Alias
Perry Syndrome
  • Parkinsonism With Alveolar Hypoventilation And Mental Depression

  • PERRYS

Neuronopathy, Distal Hereditary Motor, Type Viib
  • HMN7B

  • Hmn Viib

  • Dhmn7b

  • Neuropathy, Distal Hereditary Motor, Type Viib

  • Distal Hereditary Motor Neuronopathy Type 7b

  • Distal Hereditary Motor Neuropathy Type Viib

  • Neuronopathy, Distal Hereditary Motor, Type 7b

  • Neuropathy, Distal Hereditary Motor, With Vocal Cord Paralysis, Type Viib

  • Lower Motor Neuron Disease, Dynactin Type

  • Distal Spinal Muscular Atrophy With Vocal Cord Paralysis Type 7b

  • Harper-Young Myopathy

  • Neuronopathy, Distal Hereditary Motor, 7b

  • Distal Hereditary Motor Neuropathy With Vocal Cord Paralysis Type Viib

  • Lower Motor Neuron Disease Dynactin Type

  • Plmnd

  • Progressive Lower Motor Neuron Disease

  • Neuropathy, Motor, Distal, Hereditary, Type Viib

Amyotrophic Lateral Sclerosis 1
  • Amyotrophic Lateral Sclerosis

  • ALS

  • Lou Gehrig Disease

  • Amyotrophic Lateral Sclerosis Type 1

  • Charcot Disease

  • ALS1

  • Amyotrophic Lateral Sclerosis, Susceptibility To

  • Fals

  • Lou Gehrig'S Disease

  • Mnd

  • Motor Neuron Disease

  • Familial Amyotrophic Lateral Sclerosis

  • Amyotrophic Lateral Sclerosis 1, Familial

  • Amyotrophic Lateral Sclerosis 1, Autosomal Dominant

  • Motor Neuron Disease, Bulbar

  • Motor Neurone Disease

  • Amyotrophic Lateral Sclerosis With Dementia

  • Dementia With Amyotrophic Lateral Sclerosis

  • Motor Neuron Disease, Amyotrophic Lateral Sclerosis

  • Sclerosis, Lateral, Amyotrophic

  • Sclerosis, Lateral, Amyotrophic, Type 1

  • Amyotrophic Sclerosis

  • Als - [Amyotrophic Lateral Sclerosis]

  • Wasting Palsy

  • Amyotrophic Paralysis

  • Amyotrophy Lateral Sclerosis

  • Wasting Paralysis

  • Spinal Progressive Amyotrophy

  • Progressive Atrophic Paralysis

Distal Hereditary Motor Neuropathy Type 7
  • Distal Spinal Muscular Atrophy With Vocal Cord Paralysis

  • Dhmn7

Genetic Motor Neuron Disease
  • Genetic Anterior Horn Cell Disease

Distal Hereditary Motor Neuronopathy Type 7
  • Dhmn7

  • Dhmnvpy

  • Distal Spinal Muscular Atrophy With Vocal Cord Paralysis

Dctn1-Related Neurodegeneration
Frontotemporal Dementia
  • Pallidopontonigral Degeneration

  • Frontotemporal Lobar Degeneration

  • Semantic Dementia

  • FTD

  • Frontotemporal Lobe Dementia

  • Multiple System Tauopathy With Presenile Dementia

  • Dementia, Frontotemporal

  • Frontotemporal Dementia With Parkinsonism

  • Mstd

  • Frontotemporal Lobar Degeneration With Tau Inclusions

  • Ftld With Tau Inclusions

  • Dementia, Frontotemporal, With Parkinsonism

  • Fldem

  • Ftdp17

  • Disinhibition-Dementia-Parkinsonism-Amyotrophy Complex

  • Ddpac

  • Wilhelmsen-Lynch Disease

  • Wld

  • Ppnd

  • Dementia, Frontotemporal, With Or Without Parkinsonism

  • Semantic Primary Progressive Aphasia

  • Semantic Variant Ppa

  • Wilhemsen-Lynch Disease

  • Frontotemporal Dementia-Amyotrophic Lateral Sclerosis

  • Frontotemporal Dementia And Parkinsonism Linked To Chromosome 17

  • Ftd-Als

  • Ftld

  • Pick Complex

  • Pick Disease Of The Brain

  • Frontotemporal Dementia With Parkinsonism-17

  • Grn-Related Frontotemporal Dementia

  • Frontotemporal Dementia With Motor Neuron Disease

  • Dementia In Fronto-Temporal Lobar Degeneration

  • Ftd - [Frontotemporal Dementia]

  • Temple Dementia

  • Frontal Lobe Dementia

Motor Neuron Disease
  • Anterior Horn Cell Disease

  • Motor Neuron Diseases

  • Mnd - [Motor Neurone Disease]

  • Lou Gehrig Disease

  • Creeping Palsy

  • Creeping Paralysis

  • Bulbar Motor Neuron Disease

  • Bulbar Syndrome

  • Anterior Horn Cell Disorder

  • Hereditary Motor Neuron Disease

Mental Depression
  • Depression

  • Depressive Disorder

Respiratory Failure
  • Acute Respiratory Failure

  • Chronic Respiratory Failure

  • Respiratory Insufficiency

  • Acute-On-Chronic Respiratory Failure

  • Respiratory Disease

  • Acute And Chronic Respiratory Failure

  • Respiratory Insufficiency/Failure

  • Chronic Respiratory Disease

  • Pulmonary Valve Insufficiency

  • Chronic Disease Of Respiratory System

  • Respiration Disorders

  • Respiratory Tract Diseases

  • Lung Failure Nos

  • Pulmonary Failure

  • Arf - [Acute Respiratory Failure]

  • Acute Respiratory Insufficiency

  • Acute Pulmonary Insufficiency

  • Acute Respiration Failure

  • Chronic Respiration Failure

Muscular Atrophy
  • Muscle Wasting

  • Amyotrophia

  • Wasting - Muscle

  • Skeletal Muscle Atrophy

Charcot-Marie-Tooth Disease
  • Cmt

  • Hmsn

  • Hereditary Motor And Sensory Neuropathy

  • Pma

  • Cmt - Charcot-Marie-Tooth Disease

  • Charcot Marie Tooth Disease

  • Charcot-Marie-Tooth Hereditary Neuropathy

  • Charcot-Marie-Tooth Syndrome

  • Peroneal Muscular Atrophy

  • Hereditary Motor And Sensory Neuropathies

Lateral Sclerosis
  • Primary Lateral Sclerosis

  • Adult-Onset Primary Lateral Sclerosis

  • Adult-Onset Pls

  • Motor Neuron Disease

  • Pls

  • Pls - [Primary Lateral Sclerosis]

  • Lateral Spinal Sclerosis

  • Lateral Complete Paralysis

  • Lateral Incomplete Paralysis

  • Lateral Paralysis

Neuromuscular Disease
  • Neuromuscular Diseases

  • Neuromuscular Disorders

  • Neuromuscular Disorder

Parkinsonism
  • Parkinsonism-Plus

  • Idiopathic Parkinsonism

  • Primary Parkinsonism

  • Paralysis Agitans Syndrome

  • Parkinsonian Syndrome

  • Trembling Paralysis

  • Paralysis Agitans

  • Shaking Palsy

  • Shaking Paralysis

Charcot-Marie-Tooth Disease, Axonal, Type 2e
  • Charcot-Marie-Tooth Disease Type 2

  • CMT2E

  • CMT2S

  • CMT2Y

  • Charcot-Marie-Tooth Disease Type 2e

  • Charcot-Marie-Tooth Disease Type 2y

  • Charcot-Marie-Tooth Disease Axonal Type 2s

  • Charcot-Marie-Tooth Disease, Axonal, Type 2s

  • Charcot-Marie-Tooth Disease, Type 2e

  • Hereditary Motor And Sensory Neuropathy Type 2

  • Charcot-Marie-Tooth Neuropathy, Type 2s

  • Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2s

  • Charcot-Marie-Tooth Disease, Axonal, Type 2y

  • Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2y

  • Charcot-Marie-Tooth Neuropathy, Type 2y

  • Charcot-Marie-Tooth Disease, Type 2y

  • Autosomal Dominant Charcot-Marie-Tooth Disease Type 2e

  • Charcot-Marie-Tooth Neuropathy Type 2e

  • Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due To Vcp Mutation

  • Cmt2 Due To Vcp Mutation

  • Charcot-Marie-Tooth Disease Type 2s

  • Autosomal Dominant Charcot-Marie-Tooth Disease Type 2

  • Autosomal Dominant Axonal Charcot-Marie-Tooth Disease

  • Cmt2

  • Charcot-Marie-Tooth Neuropathy, Type 2e

  • Hereditary Motor And Sensory Neuropathy Guadalajara Neuronal Type

  • Hereditary Motor And Sensory Neuropathy Okinawa Type

  • Autosomal Dominant Axonal Charcot-Marie-Tooth Type 2y

  • Charcot-Marie-Tooth Neuropathy Type 2y

  • Autosomal Recessive Axonal Charcot-Marie-Tooth Type 2s

  • Charcot-Marie-Tooth Neuropathy Type 2s

  • Charcot-Marie-Tooth Type 2

  • Autosomal Dominant Charcot-Marie-Tooth Disease Type 2y

  • Charcot-Marie-Tooth Disease 2e

  • Charcot-Marie-Tooth Disease Axonal Type 2e

  • Charcot-Marie-Tooth Disease Neuronal Type 2e

  • Charcot-Marie-Tooth Disease 2s

  • Charcot-Marie-Tooth Neuropathy Axonal Type 2s

  • Charcot-Marie-Tooth Disease 2y

  • Charcot-Marie-Tooth Disease, Type 2

  • Hereditary Motor And Sensory-Neuropathy Type Ii

Autosomal Dominant Distal Hereditary Motor Neuronopathy
  • Autosomal Dominant Distal Hereditary Motor Neuropathy

  • Autosomal Dominant Dhmn

  • Autosomal Dominant Distal Spinal Muscular Atrophy

Epithelioid Inflammatory Myofibroblastic Sarcoma
Motor Peripheral Neuropathy
  • Motor Neuritis

  • Peripheral Motor Neuropathy

  • Hereditary Motor And Sensory Neuropathy

  • Hsmn

  • Hsmn - Hereditary Sensory And Motor Neuropathy

  • Neuropathic Muscular Atrophy

  • Hereditary Sensory And Motor Neuropathy

  • Hereditary Motor And Sensory Neuropathies

Neuropathy, Hereditary Sensory And Autonomic, Type Ic
  • HSAN1C

  • Hsan Ic

  • Hsn1c

  • Hsn Ic

  • Hereditary Sensory And Autonomic Neuropathy Type 1c

  • Neuropathy, Hereditary Sensory And Autonomic, Type 1c

  • Neuropathy, Hereditary Sensory, Type Ic

  • Hereditary Sensory And Autonomic Neuropathy Type Ic

  • Neuropathy, Hereditary Sensory And Autonomic, 1c

  • Hereditary Sensory Neuropathy Type Ic

  • Neuropathy, Hereditary Sensory/Autonomic, Type Ic

  • Neuropathy, Sensory And Autonomic, Hereditary, Type Ic

Neuropathy, Hereditary Sensory And Autonomic, Type Iia
  • Hereditary Sensory And Autonomic Neuropathy Type 2

  • Hsan2

  • HSAN2A

  • Morvan Disease

  • Hereditary Sensory And Autonomic Neuropathy Type Ii

  • Neurogenic Acroosteolysis

  • Hsan Iia

  • Hsn2a

  • Hsn Iia

  • Neuropathy, Progressive Sensory, Of Children

  • Neuropathy, Congenital Sensory

  • Neuropathy, Hereditary Sensory And Autonomic, Type Ii

  • Hereditary Sensory And Autonomic Neuropathy Type 2a

  • Hereditary Sensory And Autonomic Neuropathy Type Iia

  • Hsanii

  • Congenital Sensory Neuropathy

  • Hsan Type Ii

  • Morvan Syndrome

  • Neuropathy, Hereditary Sensory And Autonomic, Type 2a

  • Morvan'S Disease

  • Neuropathy, Hereditary Sensory, Type Iia

  • Acroosteolysis, Neurogenic

  • Acroosteolysis, Giaccai Type

  • Neuropathy, Hereditary Sensory Radicular, Autosomal Recessive

  • Hereditary Sensory Autonomic Neuropathy Type 2

  • Giaccai Type Acroosteolysis

  • Hereditary Sensory Neuropathy Type 2

  • Hereditary Sensory Radicular Neuropathy, Recessive Form

  • Hsan2b

  • Hsan2c

  • Hsan2d

  • Hsn Type Ii

  • Autosomal Recessive Sensory Radicular Neuropathy

  • Limbic Encephalitis-Neuromyotonia-Hyperhidrosis-Polyneuropathy Syndrome

  • Morvan Fibrillary Chorea

  • Neuropathy, Hereditary Sensory And Autonomic, 2a

  • Acroosteolysis Giaccai Type

  • Hereditary Sensory Neuropathy Type Iia

  • Hereditary Sensory Radicular Neuropathy Autosomal Recessive

  • Progressive Sensory Neuropathy Of Children

  • Neuropathy Congenital Sensory

  • Charcot-Marie-Tooth Disease

  • Neuropathy, Sensory And Autonomic, Hereditary, Type Iia

  • Hereditary Sensory Autonomic Neuropathy, Type 2

  • Hereditary Motor And Sensory-Neuropathy Type Ii

  • Sensory Neuropathy, Hereditary

  • Neuropathy, Hereditary Sensory And Autonomic, Type Iib

Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive
  • Charcot-Marie-Tooth Disease Type 4

  • Charcot-Marie-Tooth Disease Type 4e

  • Hereditary Motor And Sensory Neuropathy

  • Cmt4e

  • CHN1

  • Hypomyelinating Neuropathy, Congenital, 1

  • Charcot-Marie-Tooth Neuropathy Type 4e

  • Neuropathy, Congenital Hypomyelinating, 1

  • Ar-Cmt1

  • Autosomal Recessive Demyelinating Charcot-Marie-Tooth

  • Cmt4

  • Neuropathy, Congenital Hypomyelinating Or Amyelinating, Autosomal Recessive

  • Hypomyelination, Severe Congenital

  • Charcot-Marie-Tooth Disease, Type 4e

  • Charcot-Marie-Tooth Neuropathy, Type 4e

  • Autosomal Recessive Congenital Hypomyelinating Or Amyelinating Neuropathy

  • Autosomal Recessive Congenital Hypomyelinating Neuropathy

  • Congenital Amyelinating Neuropathy

  • Congenital Hypomyelinating Neuropathy Autosomal Recessive

  • Neuropathy, Congenital Hypomyelinating Or Amyelinating

  • Severe Congenital Hypomyelination

  • Hereditary Sensory Motor Neuropathy

  • Charcot-Marie-Tooth Disease, Demyelinating, Autosomal Recessive

  • Neuropathy, Hypomyelinating, Congenital, Type 1

  • Neuropathy, Motor And Sensory, Hereditary

  • Congenital Hypomyelinating Neuropathy

  • Hereditary Motor And Sensory Neuropathies

  • Hereditary Sensorimotor Neuropathy

  • Hmsn - [Hereditary Motor And Sensory Neuropathy]

  • Hsmn - [Hereditary Sensory And Motor Neuropathy]

  • Hereditary Motor And Sensory Neuropathy, Types I-Iv

Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1
  • FTDALS1

  • Frontotemporal Dementia And/Or Motor Neuron Disease

  • Ftdmnd

  • Amyotrophic Lateral Sclerosis And/Or Frontotemporal Dementia

  • Alsftd

  • Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis

  • Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis-1

  • Frontotemporal Dementia With Motor Neuron Disease

  • Ftdals

  • Ftd-Als

  • Ftd-Mnd

  • Frontotemporal Dementia With Amyotrophic Lateral Sclerosis

  • Amyotrophic Lateral Sclerosis With Frontotemporal Dementia 1

  • Amyotrophic Lateral Sclerosis/Frontotemporal Dementia

  • Dementia, Frontotemporal, And/Or Amyotrophic Lateral Sclerosis

  • Amyotrophic Lateral Sclerosis And/Or Frontotemporal Dementia 1

  • Frontotemporal Lobar Degeneration

  • Grn-Related Frontotemporal Dementia

Charcot-Marie-Tooth Disease And Deafness
  • Charcot-Marie-Tooth Disease Type 1e

  • CMT1E

  • Charcot-Marie-Tooth Disease Type 1

  • Hereditary Motor And Sensory Neuropathy Type 1

  • Charcot-Marie-Tooth Disease, Demyelinating, Type 1e

  • Charcot-Marie-Tooth Disease, Type I

  • Charcot-Marie-Tooth Neuropathy And Deafness, Autosomal Dominant

  • Charcot-Marie-Tooth Disease, Type 1e

  • Charcot-Marie-Tooth Disease Demyelinating Type 1e

  • Autosomal Dominant Demyelinating Charcot-Marie-Tooth Disease

  • Cmt1

  • Charcot-Marie-Tooth Neuropathy Type 1

  • Autosomal Dominant Charcot-Marie-Tooth Neuropathy And Deafness

  • Charcot-Marie-Tooth Disease-Deafness

  • Charcot-Marie-Tooth Type 1

  • Hmsn1

  • Hereditary Motor And Sensory Neuropathy 1

  • Cmt 1e

  • Charcot Marie Tooth Disease Type 1e

  • Charcot-Marie-Tooth Disease-Deafness Syndrome

  • Charcot-Marie-Tooth Disease-Hearing Loss Syndrome

  • Charcot-Marie-Tooth Disease 1e

  • Charcot-Marie-Tooth Disease And Deafness Autosomal Dominant

  • Charcot-Marie-Tooth Neuropathy Type 1e

  • Charcot-Marie-Tooth Disease, Type Ie

  • Hereditary Motor And Sensory Neuropathy Type I

Spinal And Bulbar Muscular Atrophy, X-Linked 1
  • Kennedy Disease

  • Sbma

  • Spinal And Bulbar Muscular Atrophy

  • Kennedy'S Disease

  • X-Linked Spinal And Bulbar Muscular Atrophy

  • SMAX1

  • Kd

  • Kennedy Spinal And Bulbar Muscular Atrophy

  • Spinobulbar Muscular Atrophy

  • Bulbospinal Muscular Atrophy, X-Linked

  • Bulbospinal Neuronopathy, X-Linked Recessive

  • Xbsn

  • Spinal And Bulbar Muscular Atrophy Of Kennedy

  • Bulbospinal Muscular Atrophy

  • X-Linked Bulbospinal Amyotrophy

  • Bulbo-Spinal Atrophy, X-Linked

  • Spinal Bulbar Muscular Atrophy

  • X-Linked Bulbo-Spinal Atrophy

  • X-Linked Spinal Bulbar Muscular Atrophy

  • X-Linked Bsma

  • X-Linked Bulbospinal Muscular Atrophy

  • Spinal And Bulbar Muscular Atrophy X-Linked 1

  • Bulbospinal Muscular Atrophy X-Linked

  • Bulbospinal Neuronopathy X-Linked Recessive

  • Kennedy Disease)

  • Kennedy Syndrome

  • Atrophy, Muscular, Spinal And Bulbar, Kennedy Type

  • Atrophy, Muscular, Spinobulbar

  • Bulbospinal Neuronopathy

Inflammatory Myofibroblastic Tumor
  • Inflammatory Fibrosarcoma

Hemochromatosis, Type 1
  • Hemochromatosis

  • Hemochromatosis Type 1

  • Hereditary Hemochromatosis

  • Hh

  • HFE1

  • Hfe Hemochromatosis, Modifier Of

  • Symptomatic Form Of Classic Hemochromatosis

  • Symptomatic Form Of Hemochromatosis Type 1

  • Symptomatic Form Of Hfe-Related Hereditary Hemochromatosis

  • Haemochromatosis

  • Iron Storage Disorder

  • Bronze Diabetes

  • Hereditary Haemochromatosis

  • Hlah

  • Hfe

  • Hemochromatosis, Hereditary

  • Diabetes Bronze

  • Classic Hemochromatosis

  • Hfe-Associated Hereditary Hemochromatosis

  • Hemochromatosis Classic

  • Bronzed Cirrhosis

  • Familial Hemochromatosis

  • Genetic Hemochromatosis

  • Hc

  • Pigmentary Cirrhosis

  • Primary Hemochromatosis

  • Troisier-Hanot-Chauffard Syndrome

  • Von Recklenhausen-Applebaum Disease

  • Hemochromatosis 1

  • Primary Hereditary Hemochromatosis

  • Bronze Cirrhosis

Supranuclear Palsy, Progressive, 1
  • Progressive Supranuclear Palsy

  • Steele-Richardson-Olszewski Syndrome

  • Supranuclear Palsy, Progressive

  • Progressive Supranuclear Ophthalmoplegia

  • Psp

  • PSNP1

  • Familial Progressive Supranuclear Palsy

  • Richardson'S Syndrome

  • Psp Syndrome

  • Progressive Supranuclear Palsy 1

  • Supranuclear Palsy Progressive

  • Ophthalmoplegia, Supranuclear, Progressive

  • Steele-Richardson-Olszewksi Syndrome

Distal Hereditary Motor Neuronopathy Type 2
  • Distal Hereditary Motor Neuropathy, Type Ii

  • Distal Hereditary Motor Neuropathy Type 2

  • Distal Hereditary Motor Neuropathy Type Ii

  • Hmn Ii

  • Hmn2

  • Distal Hereditary Motor Neuronopathy, Type Ii

  • Distal Spinal Muscular Atrophy Type 2

  • Dhmn2

  • Dsma2

  • Neuropathy, Motor, Distal, Hereditary, Type Ii

  • Spinal Muscular Atrophy, Jerash Type

Parkinson Disease, Late-Onset
  • Parkinson Disease

  • Parkinson'S Disease

  • PD

  • PARK

  • Parkinson Disease, Susceptibility To

  • Late Onset Parkinson'S Disease

  • Late Onset Parkinson Disease

  • Paralysis Agitans

  • Primary Parkinsonism

  • Idiopathic Parkinson Disease

  • Parkinson'S

  • Parkinson Disease, Late-Onset, Susceptibility To

  • Parkinson Disease, Age Of Onset, Modifier

  • Lewy Body Parkinson Disease

  • Idiopathic Parkinson'S Disease

  • Pd - [Parkinson Disease]

  • Parkinson Disease Nos

  • Parkinson, Nos

  • Primary Parkinson Disease

Bardet-Biedl Syndrome
  • Bbs

  • Biedl-Bardet Syndrome

Retinitis Pigmentosa
  • RP

  • Rod-Cone Dystrophy

  • Autosomal Recessive Retinitis Pigmentosa

  • Non-Syndromic Retinitis Pigmentosa

  • Pericentral Pigmentary Retinopathy

  • Pigmentary Retinopathy

  • Tapetoretinal Degeneration

  • Rcd

  • Retinitis Pigmentosa Autosomal Recessive

  • ARRP

  • Retinitis Pigmentosa, Autosomal Recessive

  • Retinitis Pigmentosa 1

Movement Disease
  • Movement Disorders

  • Movement Disorder

Hereditary Spastic Paraplegia
  • Familial Spastic Paraplegia

  • Hereditary Spastic Paraparesis

  • Strumpell-Lorrain Disease

  • Familial Spastic Paraparesis

  • Hsp

  • Spg

  • Strümpell-Lorrain Disease

  • Spastic Paraplegia, Hereditary

  • French Settlement Disease

  • Strumpell-Lorrain Syndrome

  • Fsp

  • Spastic Paraplegia, Familial

  • Spastic Paraplegia Hereditary

  • Spastic Paraplegia 3, Autosomal Dominant

  • Spastic Paraparesis

  • Hereditary Spastic Paralysis

  • Familial Spastic Paralysis

  • Hereditary Spastic Ataxia

Spinal Muscular Atrophy
  • Sma

  • 5q Sma

  • Proximal Sma

  • Sma-Associated Sma

  • Spinal Amyotrophies

  • Spinal Amyotrophy

  • Spinal Muscle Degeneration

  • Spinal Muscle Wasting

  • Muscular Atrophy Spinal

  • Atrophy, Muscular, Spinal

  • Hereditary Motor Neuronopathy

  • Progressive Muscular Atrophy

  • Sma - [Spinal Muscular Atrophy]

Pick Disease Of Brain
  • Pick Disease

  • Pick'S Disease

  • Pick Disease Of The Brain

  • Lobar Atrophy Of Brain

  • Dementia With Lobar Atrophy And Neuronal Cytoplasmic Inclusions

  • Behavioral Variant Of Frontotemporal Dementia

  • Dementia In Pick'S Disease

  • Lobar Atrophy Of The Brain

  • Bvftd

  • Bv-Ftd

  • PIDB

  • Picks Disease

Congenital Nervous System Abnormality
  • Congenital Neurologic Anomaly

  • Congenital Nervous System Disorder

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Bos taurus DCTN1 VGNC VGNC:27928
Mus musculus DCTN1 MGD MGI:107745
Canis familiaris DCTN1 VGNC VGNC:39816
Macaca mulatta DCTN1 VGNC VGNC:101478
Felis catus DCTN1 VGNC VGNC:101456
Rattus norvegicus DCTN1 RGD RGD:62038
Others DCTN1 NCBI