DCTN1_HUMAN
Source:
PM19886704
PM23856902
PM22954596
Marked as 'Non-membrane protein'
Confidence:
medium (present in either hRBCD or BSc_CH or PM22954596)
Search PubMed for
(RBC AND this entry)
Gene names:
DCTN1
Protein names and data:
DCTN1_HUMAN
, Dynactin subunit 1
, 150 kDa dynein-associated polypeptide; DAP-150; DP-150; p135; p150-glued
Lenght: 1278 a.a.
Mass: 141695 Da
fasta formatted sequence
Function:
Required for the cytoplasmic dynein-driven retrograde movement of vesicles and organelles along microtubules. Dynein- dynactin interaction is a key component of the mechanism of axonal transport of vesicles and organelles.
Disease:
( OMIM:
105400
168605
601143
607641
)
Neuronopathy, distal hereditary motor, 7B (HMN7B) [MIM:607641]: A 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. Note=The disease is caused by mutations affecting the gene represented in this entry. Amyotrophic lateral sclerosis (ALS) [MIM:105400]: A 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. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry. Perry syndrome (PERRYS) [MIM:168605]: A 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. Note=The disease is caused by mutations affecting the gene represented in this entry.
Cellular location:
Cytoplasm. Cytoplasm, cytoskeleton. Note=Colocalizes with microtubules.
Tissue specificity:
Brain.
Genetic variants
59 - 59
G -> S (in HMN7B; shows a modestly 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). VAR_015850
71 - 71
G -> A (in PERRYS). VAR_063867
71 - 71
G -> E (in PERRYS). VAR_063868
71 - 71
G -> R (in PERRYS; diminishes microtubule binding and lead to intracytoplasmic inclusions). VAR_063869
72 - 72
T -> P (in PERRYS). VAR_063870
74 - 74
Q -> P (in PERRYS; diminishes microtubule binding and lead to intracytoplasmic inclusions). VAR_063871
163 - 163
A -> P. VAR_001373
287 - 287
L -> M (in dbSNP:rs13420401). VAR_048677
13420401
495 - 495
R -> Q (in dbSNP:rs17721059). VAR_048678
17721059
571 - 571
M -> T (in susceptibility to amyotrophic lateral sclerosis). VAR_063872
785 - 785
R -> W (in susceptibility to amyotrophic lateral sclerosis). VAR_063873
1101 - 1101
R -> K (in susceptibility to amyotrophic lateral sclerosis). VAR_063874
1249 - 1249
T -> I (in susceptibility to amyotrophic lateral sclerosis; unknown pathological significance; dbSNP:rs72466496). VAR_063875
72466496
Database cross-references
UniProt:
Q14203
Ensembl:
ENST00000361874
Ensembl:
ENST00000394003
Ensembl:
ENST00000407639
Ensembl:
ENST00000409240
Ensembl:
ENST00000409438
Ensembl:
ENST00000409567
MIM:
105400
MIM:
168605
MIM:
601143
MIM:
607641
neXtProt:
NX_Q14203
Antibodypedia:
Q14203
(may not find the protein thus also not any antibody)
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