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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
miRNAmiRNA information provided by mirtarbase database.
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
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
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM
HGNC
e!Ensembl
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
MAQSKRHVYSRTPSGSRMSAEASARPLRVGSRVEVIGKGHRGTVAYVGATLFATGKWVGV
ILDEAKGKNDGTVQGRKYFTCDEGHGIFVRQSQI
QVFEDGADTTSPETPDSSASKVLKRE
GTDTTAKTSKLRGLKPKKAPTARKTTTRRPKPTRPASTGVAGASSSLGPSGSASAGELSS
SEPSTPAQTPLAAPIIPTPVLTSPGAVPPLPSPSKEEEGLRAQVRDLEEKLETLRLKRAE
DKAKLKELEKHKIQLEQVQEWKSKMQEQQADLQRRLKEARKEAKEALEAKERYMEEMADT
ADAIEMATLDKEMAEERAESLQQEVEALKERVDELTTDLEILKAEIEEKGSDGAASSYQL
KQLEEQNARLKDALVRMRDLSSSEKQEHVKLQKLMEKKNQELEVVRQQRERLQEELSQAE
STIDELKEQVDAALGAEEMVEMLTDRNLNLEEKVRELRETVGDLEAMNEMNDELQENARE
TELELREQLDMAGARVREAQKRVEAAQETVADYQQTIKKYRQLTAHLQDVNRELTNQQEA
SVERQQQPPPETFDFKIKFAETKAHAKAIEMELRQMEVAQANRHMSLLTAFMPDSFLRPG
GDHDCVLVLLLMPRLICKAELIRKQAQEKFELSENCSERPGLRGAAGEQLSFAAGLVYSL
SLLQATLHRYEHALSQCSVDVYKKVGSLYPEMSAHERSLDFLIELLHKDQLDETVNVEPL
TKAIKYYQHLYSIHLAEQPEDCTMQLADHIKFTQSALDCMSVEVGRLRAFLQGGQEATDI
ALLLRDLETSCSDIRQFCKKIRRRM
PGTDAPGIPAALAFGPQVSDTLLDCRKHLTWVVAV
LQEVAAAAAQLIAPLAENEGLLVAALEELAFKASEQIYGTPSSSPYECLRQSCNILISTM
NKLATAMQEGEYDAERPPSKPPPVELRAAALRAEITDAEGLGLKLEDRETVIKELKKSLK
IKGEELSEANVRLSLLEKKLDSAAKDADERIEKVQTRLEETQALLRKKEKEFEETMDALQ
ADIDQLEAEKAELKQRLNSQSKRTIEGLRGPPPSGIATLVSGIAGEEQQRGAIPGQAPGS
VPGPGLVKDSPLLLQQISAMRLHISQLQHENSILKGAQMKASLASLPPLHVAKLSHEGPG
SELPAGALYRKTSQLLETLNQLSTHTHVVDITRTSPAAKSPSAQLMEQVAQLKSLSDTVE
KLKDEVLKETVSQRPGATVPTDFATFPSSAFLRAKEEQQDDTVYMGKVTFSCAAGFGQRH
RLVLTQEQLHQLHSRLIS
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.
 
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
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
Unknown
Disease name Disease term dbSNP ID References
Anxiety disorder Anxiety
Dementia Dementia
Distal amyotrophy Distal amyotrophy rs1457770815
Dysarthria Dysarthria

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