DCTN1 (dynactin subunit 1)
|
Gene
|
Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
|
1639 |
Gene nameGene Name - the full gene name approved by the HGNC.
|
Dynactin subunit 1 |
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
|
DCTN1 |
SynonymsGene synonyms aliases
|
DAP-150, DP-150, HMND14, P135 |
ChromosomeChromosome number
|
2 |
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
|
2p13.1 |
SummarySummary 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 |
SNPsSNP information provided by dbSNP.
|
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 |
|
miRNAmiRNA information provided by mirtarbase database.
|
|
Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
|
GO ID |
Ontology |
Definition |
Evidence |
Reference |
GO:0000086 |
Process |
G2/M transition of mitotic cell cycle |
TAS |
|
GO:0000132 |
Process |
Establishment of mitotic spindle orientation |
IBA |
21873635 |
GO:0000132 |
Process |
Establishment of mitotic spindle orientation |
IMP |
22327364 |
GO:0000278 |
Process |
Mitotic cell cycle |
NAS |
1828535 |
GO:0000776 |
Component |
Kinetochore |
IBA |
21873635 |
GO:0000776 |
Component |
Kinetochore |
IDA |
19468067, 23027904 |
GO:0000922 |
Component |
Spindle pole |
IBA |
21873635 |
GO:0000922 |
Component |
Spindle pole |
IDA |
14718566 |
GO:0003774 |
Function |
Motor activity |
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 |
IBA |
21873635 |
GO:0005635 |
Component |
Nuclear envelope |
IDA |
20679239 |
GO:0005737 |
Component |
Cytoplasm |
IBA |
21873635 |
GO:0005737 |
Component |
Cytoplasm |
IDA |
18305234 |
GO:0005813 |
Component |
Centrosome |
IDA |
20719959, 21399614, 23985322, 25774020 |
GO:0005814 |
Component |
Centriole |
IDA |
23213374, 23386061, 25774020 |
GO:0005819 |
Component |
Spindle |
IDA |
25774020 |
GO:0005829 |
Component |
Cytosol |
TAS |
|
GO:0005874 |
Component |
Microtubule |
IDA |
21525035, 22777741, 25774020 |
GO:0005875 |
Component |
Microtubule associated complex |
IBA |
21873635 |
GO:0005875 |
Component |
Microtubule associated complex |
IMP |
16505168 |
GO:0005938 |
Component |
Cell cortex |
IDA |
23027904 |
GO:0005938 |
Component |
Cell cortex |
IDA |
23509069 |
GO:0006888 |
Process |
Endoplasmic reticulum to Golgi vesicle-mediated transport |
TAS |
|
GO:0007097 |
Process |
Nuclear migration |
IBA |
21873635 |
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 |
IMP |
16505168 |
GO:0010389 |
Process |
Regulation of G2/M transition of mitotic cell cycle |
TAS |
|
GO:0010457 |
Process |
Centriole-centriole cohesion |
IMP |
23386061 |
GO:0015630 |
Component |
Microtubule cytoskeleton |
IDA |
|
GO:0015631 |
Function |
Tubulin binding |
IDA |
23874158 |
GO:0016020 |
Component |
Membrane |
HDA |
19946888 |
GO:0019886 |
Process |
Antigen processing and presentation of exogenous peptide antigen via MHC class II |
TAS |
|
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 |
21873635 |
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:0031122 |
Process |
Cytoplasmic microtubule organization |
IBA |
21873635 |
GO:0034454 |
Process |
Microtubule anchoring at centrosome |
IMP |
23386061 |
GO:0035371 |
Component |
Microtubule plus-end |
IBA |
21873635 |
GO:0035371 |
Component |
Microtubule plus-end |
IDA |
26972003 |
GO:0036498 |
Process |
IRE1-mediated unfolded protein response |
TAS |
|
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:0051010 |
Function |
Microtubule plus-end binding |
IBA |
21873635 |
GO:0051081 |
Process |
Nuclear envelope 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:0097711 |
Process |
Ciliary basal body-plasma membrane docking |
TAS |
|
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 |
|
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
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|
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 |
|
Sequence |
|
Sequence length |
1278 |
Interactions |
View interactions |
PathwaysPathway information has different metabolic/signaling pathways associated with genes. Each record is hyperlinked to a complete information page which also includes links to the KEGG/Reactome pathway database.
|
|
Associated diseases
|
Causal |
Disease name |
Disease term |
dbSNP ID |
References |
Amyotrophic lateral sclerosis |
Amyotrophic Lateral Sclerosis, Amyotrophic Lateral Sclerosis, Familial |
rs267607084, rs312262720, rs312262752, rs121908287, rs121908288, rs29001584, rs28941475, rs121434378, rs386134173, rs386134174, rs80356730, rs80356727, rs4884357, rs80356717, rs80356733, rs80356731, rs80356726, rs267606928, rs267606929, rs1885090126, rs121434591, rs121912431, rs121912432, rs121912433, rs121912434, rs121912435, rs121912440, rs121912436, rs121912437, rs121912438, rs121912439, rs74315452, rs121912442, rs121912443, rs121912444, rs121912446, rs121912447, rs1197141604, rs121912448, rs121912449, rs121912450, rs121912451, rs121912452, rs121912453, rs121912454, rs369600566, rs121912455, rs121912456, rs121912457, rs121912458, rs1555836889, rs121909667, rs121909668, rs121909669, rs121909671, rs121909535, rs121909537, rs121909538, rs121909539, rs121909540, rs121909542, rs121909544, rs80356734, rs367543041, rs80356740, rs80356719, rs80356721, rs80356723, rs80356725, rs387906627, rs387906628, rs387906709, rs387906710, rs387906711, rs387906829, rs387907264, rs387907265, rs387907266, rs312262739, rs312262709, rs312262749, rs200793464, rs147713329, rs312262788, rs397514262, rs63751180, rs587777132, rs730880025, rs730880026, rs730880027, rs368743618, rs730880029, rs730882255, rs730882256, rs786205611, rs121912441, rs199947197, rs780136067, rs772731615, rs879253926, rs879254294, rs764717219, rs886041390, rs750159428, rs753207473, rs267607087, rs767350733, rs778305085, rs1554707680, rs1554707622, rs1393363759, rs750959420, rs1555509569, rs1554716504, rs11556620, rs1247392012, rs142083484, rs140385286, rs749428135, rs371575563, rs1402429085, rs1218712729, rs1555179091, rs1555179087, rs746971952, rs1555836950, rs368276916, rs140376902, rs747220413, rs76731700, rs770684782, rs1200906022, rs1804449, rs1482760341, rs769898852, rs140599944, rs757972700, rs1555451521, rs1592362719, rs1555836803, rs763455928, rs1378590183, rs1583695322, rs1362178149, rs1197928094, rs368751524, rs1555509609, rs1574787779, rs1601157750, rs1301635320, rs1341055534, rs1402092579, rs1568809172, rs1555836170, rs1315541036, rs1339283341, rs1643659556, rs1644506661, rs1435710212, rs1553122918, rs1689580631, rs374047961, rs775935265, rs2076486420, rs1820836522, rs757260058, rs1844420892, rs1833371664, rs1833438306, rs1833451208, rs2083790483, rs1303294230, rs1226110412, rs2053207945, rs2053208751, rs2053501632, rs2053539304, rs1567479067, rs544088874, rs1228194239, rs1568807400, rs1169198442, rs2049594204, rs2049594311, rs1568810641, rs1568811372, rs2049618449, rs1476760624, rs2079347087 |
23941283 |
Distal hereditary motor neuronopathy |
Distal hereditary motor neuropathy type 7 |
rs104894345, rs104894351, rs137852970, rs137852972, rs267607143, rs267607145, rs28939680, rs29001571, rs28937568, rs28937569, rs104894020, rs121909112, rs121909113, rs121909342, rs786205090, rs137852644, rs137852646, rs121913595, rs387906904, rs387907242, rs398123028, rs398122838, rs730880031, rs730882139, rs730882140, rs267607623, rs797044802, rs746581714, rs756614404, rs770272088, rs876661124, rs879253868, rs879254085, rs764813110, rs1060502838, rs1064796370, rs1554338260, rs137852973, rs1347223331, rs377626365, rs772217003, rs1553174566, rs1324667543, rs557327165, rs1441260635, rs1565929080, rs770593694, rs1584026191, rs372181708, rs758322672, rs1587668798, rs1587671674, rs972425138, rs1594427564, rs1594445698, rs1594453111, rs1337346956, rs1240319744, rs199839840, rs754422011, rs1595599240, rs1595600898, rs1555408333, rs774079947, rs1584034430, rs562669797, rs749383814, rs762573767, rs767263669, rs746212067, rs1182614290, rs1018405924 |
12627231 |
Frontotemporal dementia |
Frontotemporal dementia |
rs63751273, rs63750376, rs63750424, rs63750972, rs1568327531, rs63750570, rs63750756, rs63751165, rs63750512, rs63751438, rs63750912, rs63750711, rs63750635, rs63750349, rs63750092, rs63749801, rs63751399, rs199476352, rs63751035, rs63749974, rs63750568, rs63750013, rs63751394, rs63750308, rs63751011, rs63750095, rs794729672, rs794729669, rs63749817, rs794729670, rs193026789, rs794729671, rs1085307051, rs1566630811, rs1566630884, rs1567885658, rs1567886206, rs1567886445, rs1567886478, rs1567887015, rs1567887777, rs1567888461, rs1566630791, rs1598408073, rs1570725499, rs1598408336 |
|
Lateral sclerosis |
AMYOTROPHIC LATERAL SCLEROSIS 1, Amyotrophic Lateral Sclerosis, Sporadic |
rs386134181, rs386134176, rs386134174, rs386134184, rs386134178, rs1693780539, rs1574698048 |
16505168, 27025386, 19279216, 12627231, 28251916, 18364389, 27573046, 26954557, 15326253, 19136952, 16240349, 23143281, 18094236 |
Parkinson disease |
Parkinsonian Disorders, Autosomal Dominant Juvenile Parkinson Disease, PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE |
rs116074753, rs118203903, rs118203904, rs115735611, rs33939927, rs35801418, rs34805604, rs35870237, rs34995376, rs74315355, rs28940284, rs74315356, rs74315357, rs28940285, rs730880302, rs750664040, rs74315359, rs74315360, rs45539432, rs74315361, rs119451946, rs80356771, rs74500255, rs75822236, rs1141814, rs78973108, rs121908681, rs121908686, rs121908687, rs137853054, rs137853055, rs137853056, rs137853057, rs137853058, rs137853059, rs34424986, rs137853060, rs397518439, rs28938172, rs74315351, rs74315353, rs137853051, rs118192098, rs121917767, rs121918104, rs1589451049, rs104893877, rs104893878, rs283413, rs112176450, rs111290936, rs188286943, rs387906863, rs387906864, rs774631197, rs199935023, rs387906942, rs397514694, rs398122403, rs398122404, rs398122405, rs104886460, rs409652, rs431905511, rs63751392, rs756677845, rs864309527, rs864309650, rs750014782, rs1554391082, rs864622011, rs869312810, rs869312809, rs869312811, rs369100678, rs879253853, rs869320761, rs747506979, rs879255630, rs886039854, rs191486604, rs781442277, rs1060499619, rs751037529, rs55777503, rs768091663, rs34208370, rs1553122929, rs772786691, rs754809877, rs1555907463, rs1557561340, rs781600849, rs141263564, rs1557901552, rs777160388, rs756783990, rs867929413, rs1237637353, rs1005937012, rs755000580, rs747427602, rs1578089802, rs771586218, rs748142049, rs1582953433, rs746646126, rs771529549, rs121918106 |
19136952 |
Perry syndrome |
Perry Syndrome |
rs121909342, rs72466487, rs67586389, rs886039227 |
12627231, 25185702, 23874158, 23143281, 28251916, 16505168, 27132499, 24881494, 24676999, 19136952, 18094236, 27025386, 26972003, 26954557, 27346608, 27573046, 18364389, 19279216 |
|
Unknown |
Disease name |
Disease term |
dbSNP ID |
References |
Anxiety disorder |
Anxiety |
|
|
Dementia |
Dementia |
|
|
Distal amyotrophy |
Distal amyotrophy |
rs1457770815 |
|
Dysarthria |
Dysarthria |
|
|
Dyssomnia |
Dyssomnias |
|
|
Facial paralysis |
Facial paralysis |
|
|
Laryngospasm |
Laryngospasm |
|
|
Mental depression |
Depressive disorder |
rs587778876, rs587778877 |
|
Mood disorder |
Mood Disorders |
|
19136952 |
Mood swings |
Mood swings |
|
|
Neuronopathy |
Neuronopathy, Distal Hereditary Motor, Type Viib |
|
12627231, 23143281, 28251916, 19136952, 26954557, 16505168, 27573046, 27025386, 22777741, 18364389, 18094236, 19279216 |
Parkinsonian disease |
Autosomal Dominant Parkinsonism, Autosomal Recessive Parkinsonism, Familial Juvenile Parkinsonism, Parkinsonism, Juvenile |
|
19136952 |
Pseudobulbar palsy |
Pseudobulbar Palsy |
|
|
Ramsay hunt paralysis syndrome |
Ramsay Hunt Paralysis Syndrome |
|
19136952 |
Respiratory failure |
Respiratory Failure |
|
|
Sleep apnea |
Sleep Apnea Syndromes |
|
|
Sleep disorders |
Sleep Disorders |
|
|
Supranuclear gaze palsy |
Vertical supranuclear gaze palsy |
|
|
Vocal cord paralysis |
Vocal Cord Paralysis |
|
|
|
|
|