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UniProtKB/Swiss-Prot entry Q14203


[Entry info] [Name and origin] [References] [Comments] [Cross-references] [Keywords] [Features] [Sequence] [Tools]

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Entry information
Entry name DCTN1_HUMAN
Primary accession number Q14203
Secondary accession numbers O95296 Q9BRM9 Q9UIU1 Q9UIU2
Integrated into Swiss-Prot on November 1, 1997
Sequence was last modified on October 18, 2001 (Sequence version 3)
Annotations were last modified on    June 16, 2009 (Entry version 86)
Name and origin of the protein
Protein name Dynactin subunit 1
Synonyms 150 kDa dynein-associated polypeptide
DAP-150
DP-150
p150-glued
p135
Gene name
Name: DCTN1
From
Homo sapiens (Human) [TaxID: 9606] 
Taxonomy Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo.
Protein existence 1: Evidence at protein level;
References
[1]
NUCLEOTIDE SEQUENCE [GENOMIC DNA], AND ALTERNATIVE SPLICING.
DOI=10.1006/geno.1998.5542; PubMed=9799602 [NCBI, ExPASy, EBI, Israel, Japan]
Collin G.B., Nishina P.M., Marshall J.D., Naggert J.K.;
"Human DCTN1: genomic structure and evaluation as a candidate for Alstrom syndrome.";
Genomics 53:359-364(1998).
[2]
NUCLEOTIDE SEQUENCE OF 9-1278.
TISSUE=Brain;
DOI=10.1006/geno.1996.0068; PubMed=8838327 [NCBI, ExPASy, EBI, Israel, Japan]
Holzbaur E.L.F., Tokito M.K.;
"Localization of the DCTN1 gene encoding p150Glued to human chromosome 2p13 by fluorescence in situ hybridization.";
Genomics 31:398-399(1996).
[3]
NUCLEOTIDE SEQUENCE [MRNA] OF 9-1278, AND ALTERNATIVE SPLICING.
TISSUE=Brain;
PubMed=8856662 [NCBI, ExPASy, EBI, Israel, Japan]
Tokito M.K., Howland D.S., Lee V.M.-Y., Holzbaur E.L.F.;
"Functionally distinct isoforms of dynactin are expressed in human neurons.";
Mol. Biol. Cell 7:1167-1180(1996).
[4]
NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 18-1278.
DOI=10.1016/S0167-4781(98)00195-X; PubMed=9805007 [NCBI, ExPASy, EBI, Israel, Japan]
Tokito M.K., Holzbaur E.L.F.;
"The genomic structure of DCTN1, a candidate gene for limb-girdle muscular dystrophy.";
Biochim. Biophys. Acta 1442:432-436(1998).
[5]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1081-1278.
Kalnine N., Chen X., Rolfs A., Halleck A., Hines L., Eisenstein S., Koundinya M., Raphael J., Moreira D., Kelley T., LaBaer J., Lin Y., Phelan M., Farmer A.;
"Cloning of human full-length CDSs in BD Creator(TM) system donor vector.";
Submitted (MAY-2003) to the EMBL/GenBank/DDBJ databases.
[6]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1082-1278.
TISSUE=Lung;
DOI=10.1101/gr.2596504; PubMed=15489334 [NCBI, ExPASy, EBI, Israel, Japan]
The MGC Project Team;
"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).";
Genome Res. 14:2121-2127(2004).
[7]
DISEASE, AND VARIANT PLMND SER-59.
DOI=10.1038/ng1123; PubMed=12627231 [NCBI, ExPASy, EBI, Israel, Japan]
Puls I., Jonnakuty C., LaMonte B.H., Holzbaur E.L., Tokito M., Mann E., Floeter M.K., Bidus K., Drayna D., Oh S.J., Brown R.H. Jr., Ludlow C.L., Fischbeck K.H.;
"Mutant dynactin in motor neuron disease.";
Nat. Genet. 33:455-456(2003).
[8]
INTERACTION WITH MAPRE1; MAPRE2 AND MAPRE3.
DOI=10.1074/jbc.M306194200; PubMed=14514668 [NCBI, ExPASy, EBI, Israel, Japan]
Bu W., Su L.-K.;
"Characterization of functional domains of human EB1 family proteins.";
J. Biol. Chem. 278:49721-49731(2003).
[9]
IDENTIFICATION [LARGE SCALE ANALYSIS], AND MASS SPECTROMETRY.
Colinge J., Superti-Furga G., Bennett K.L.;
Submitted (OCT-2008) to UniProtKB.
[10]
STRUCTURE BY NMR OF 1-99.
RIKEN structural genomics initiative (RSGI);
"Solution structure of the CAP-GLY domain in human dynactin 1.";
Submitted (NOV-2005) to the PDB data bank.
Comments
Copyright
Copyrighted by the UniProt Consortium, see http://www.uniprot.org/terms. Distributed under the Creative Commons Attribution-NoDerivs License.
Cross-references
Sequence databases
EMBL
AF064205; AAD55811.1; -; Genomic_DNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
AF064203; AAD55811.1; JOINED; Genomic_DNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
AF064204; AAD55811.1; JOINED; Genomic_DNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
AF064205; AAD55812.1; -; Genomic_DNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
AF064204; AAD55812.1; JOINED; Genomic_DNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
X98801; CAA67333.1; -; mRNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
AF086947; AAD03694.1; -; Genomic_DNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
AF086927; AAD03694.1; JOINED; Genomic_DNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
AF086928; AAD03694.1; JOINED; Genomic_DNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
AF086929; AAD03694.1; JOINED; Genomic_DNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
AF086930; AAD03694.1; JOINED; Genomic_DNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
AF086931; AAD03694.1; JOINED; Genomic_DNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
AF086932; AAD03694.1; JOINED; Genomic_DNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
AF086933; AAD03694.1; JOINED; Genomic_DNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
AF086934; AAD03694.1; JOINED; Genomic_DNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
AF086935; AAD03694.1; JOINED; Genomic_DNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
AF086936; AAD03694.1; JOINED; Genomic_DNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
AF086937; AAD03694.1; JOINED; Genomic_DNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
AF086938; AAD03694.1; JOINED; Genomic_DNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
AF086939; AAD03694.1; JOINED; Genomic_DNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
AF086940; AAD03694.1; JOINED; Genomic_DNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
AF086941; AAD03694.1; JOINED; Genomic_DNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
AF086942; AAD03694.1; JOINED; Genomic_DNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
AF086943; AAD03694.1; JOINED; Genomic_DNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
AF086944; AAD03694.1; JOINED; Genomic_DNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
AF086945; AAD03694.1; JOINED; Genomic_DNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
AF086946; AAD03694.1; JOINED; Genomic_DNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
BT006758; AAP35404.1; -; mRNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
BC006163; AAH06163.1; ALT_INIT; mRNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
IPI IPI00029485; -.
IPI00219114; -.
RefSeq NP_004073.2; -.
UniGene Hs.516111
3D structure databases
PDB
1TXQ; X-ray; 1.80 A; A=15-107.[ExPASy / RCSB / EBI]
2COY; NMR; -; A=1-99.[ExPASy / RCSB / EBI]
2HKN; X-ray; 1.87 A; A/B=18-111.[ExPASy / RCSB / EBI]
2HKQ; X-ray; 1.86 A; B=18-111.[ExPASy / RCSB / EBI]
2HL3; X-ray; 2.03 A; A/B=18-111.[ExPASy / RCSB / EBI]
2HL5; X-ray; 1.93 A; C/D=18-111.[ExPASy / RCSB / EBI]
2HQH; X-ray; 1.80 A; A/B/C/D=15-107.[ExPASy / RCSB / EBI]
3E2U; X-ray; 2.60 A; A/B/C/D=15-111.[ExPASy / RCSB / EBI]
Detailed list of linked structures.
PDBsum 1TXQ; -.
2COY; -.
2HKN; -.
2HKQ; -.
2HL3; -.
2HL5; -.
2HQH; -.
3E2U; -.
ModBase Q14203.
Protein-protein interaction databases
IntAct Q14203; 15.
PTM databases
PhosphoSite Q14203; -.
2D gel databases
OGP Q14203; -.
Organism-specific databases
GeneCards GC02M074441; -.
H-InvDB HIX0002180; -.
HGNC HGNC:2711; DCTN1.
GenAtlas DCTN1.
HPA CAB009108; -.
MIM 601143; gene. [NCBI / EBI]
607641; phenotype. [NCBI / EBI]
Orphanet 139589; Distal hereditary motor neuropathy, type 7.
PharmGKB PA27180; -.
Gene expression databases
ArrayExpress Q14203; -.
Bgee Q14203; -.
CleanEx HS_DCTN1; -.
GermOnline ENSG00000204843; Homo sapiens.
Ontologies
GO
GO:0005737; Cellular component: cytoplasm (traceable author statement from ProtInc).
GO:0030286; Cellular component: dynein complex (inferred from electronic annotation from UniProtKB-KW).
GO:0005874; Cellular component: microtubule (inferred from electronic annotation from UniProtKB-KW).
GO:0000922; Cellular component: spindle pole (inferred from direct assay from UniProtKB).
GO:0003774; Molecular function: motor activity (inferred from electronic annotation from UniProtKB-KW).
GO:0005515; Molecular function: protein binding (inferred from physical interaction from UniProtKB).
GO:0008219; Biological process: cell death (inferred from electronic annotation from UniProtKB-KW).
GO:0007067; Biological process: mitosis (non-traceable author statement from ProtInc).
GO:0007399; Biological process: nervous system development (non-traceable author statement from UniProtKB).
QuickGo view.
Family and domain databases
InterPro IPR000938; Cytoskel-assoc-prot_CAP-Gly.
Graphical view of domain structure.
Pfam PF01302; CAP_GLY; 1.
Pfam graphical view of domain structure.
PROSITE PS00845; CAP_GLY_1; 1.
PS50245; CAP_GLY_2; 1.
PROSITE graphical view of domain structure (profiles).
Proteomic databases
PRIDE Q14203; -.
Genome annotation databases
Ensembl ENSG00000204843; Homo sapiens. [Contig view]
GeneID 1639; -.
Phylogenomic databases
HOGENOM Q14203; -.
HOVERGEN Q14203; -.
Other
NextBio 6734; -.
PMAP-CutDB Q14203; -.
SOURCE DCTN1; Homo sapiens.
ProtoNet Q14203.
UniRef View cluster of proteins with at least 50% / 90% / 100% identity.
Keywords
3D-structure; Alternative splicing; Coiled coil; Cytoplasm; Cytoskeleton; Dynein; Microtubule; Neurodegeneration; Phosphoprotein; Polymorphism.
Features
SEVIEWER logo Feature table viewer FT aligner logo Feature aligner
KeyFrom    To Length Description FTId
CHAIN   1   1278  1278     Dynactin subunit 1. PRO_0000083518
DOMAIN   48     90  43     CAP-Gly. 
COILED   213    547  335     Potential. 
COILED   943   1049  107     Potential. 
COILED   1182   1211  30     Potential. 
COMPBIAS   164    191  28     Ser-rich. 
MOD_RES   541    541        Phosphoserine (By similarity). 
VAR_SEQ   1    138        MAQSKRHVYSRTPSGSRMSAEASARPLRVGSRVEVIGKGH RGTVAYVGATLFATGKWVGVILDEAKGKNDGTVQGRKYFT CDEGHGIFVRQSQIQVFEDGADTTSPETPDSSASKVLKRE GTDTTAKTSKLRGLKPKK -> MMRQ (in isoform p135). VSP_000760
VARIANT   59     59  1     G -> S (in PLMND). VAR_015850 [3D]
VARIANT   163    163  1     A -> P. VAR_001373 
VARIANT   287    287  1     L -> M (in dbSNP:rs13420401 [NCBI]). VAR_048677 
VARIANT   495    495  1     R -> Q (in dbSNP:rs17721059 [NCBI]). VAR_048678 
CONFLICT   10     10        S -> N (in Ref. 2 and 3). 
CONFLICT   132    138        Missing (in Ref. 2 and 3). 
CONFLICT   712    712        D -> V (in Ref. 2 and 3). 
CONFLICT   1081   1081        V -> M (in Ref. 5; AAP35404/AAH06163). 
STRAND   32     35  4      
TURN   36     38  3      
STRAND   41     48  8      
STRAND   51     55  5      
STRAND   57     65  9      
STRAND   67     73  7      
STRAND   76     78  3      
STRAND   86     89  4      
HELIX   91     93  3      
STRAND   94     96  3      
Sequence information
Length: 1278 AA [This is the length of the unprocessed precursor] Molecular weight: 141695 Da [This is the MW of the unprocessed precursor] CRC64: 6DCEA5E67856E4BC [This is a checksum on the sequence]
        10         20         30         40         50         60 
MAQSKRHVYS RTPSGSRMSA EASARPLRVG SRVEVIGKGH RGTVAYVGAT LFATGKWVGV 

        70         80         90        100        110        120 
ILDEAKGKND GTVQGRKYFT CDEGHGIFVR QSQIQVFEDG ADTTSPETPD SSASKVLKRE 

       130        140        150        160        170        180 
GTDTTAKTSK LRGLKPKKAP TARKTTTRRP KPTRPASTGV AGASSSLGPS GSASAGELSS 

       190        200        210        220        230        240 
SEPSTPAQTP LAAPIIPTPV LTSPGAVPPL PSPSKEEEGL RAQVRDLEEK LETLRLKRAE 

       250        260        270        280        290        300 
DKAKLKELEK HKIQLEQVQE WKSKMQEQQA DLQRRLKEAR KEAKEALEAK ERYMEEMADT 

       310        320        330        340        350        360 
ADAIEMATLD KEMAEERAES LQQEVEALKE RVDELTTDLE ILKAEIEEKG SDGAASSYQL 

       370        380        390        400        410        420 
KQLEEQNARL KDALVRMRDL SSSEKQEHVK LQKLMEKKNQ ELEVVRQQRE RLQEELSQAE 

       430        440        450        460        470        480 
STIDELKEQV DAALGAEEMV EMLTDRNLNL EEKVRELRET VGDLEAMNEM NDELQENARE 

       490        500        510        520        530        540 
TELELREQLD MAGARVREAQ KRVEAAQETV ADYQQTIKKY RQLTAHLQDV NRELTNQQEA 

       550        560        570        580        590        600 
SVERQQQPPP ETFDFKIKFA ETKAHAKAIE MELRQMEVAQ ANRHMSLLTA FMPDSFLRPG 

       610        620        630        640        650        660 
GDHDCVLVLL LMPRLICKAE LIRKQAQEKF ELSENCSERP GLRGAAGEQL SFAAGLVYSL 

       670        680        690        700        710        720 
SLLQATLHRY EHALSQCSVD VYKKVGSLYP EMSAHERSLD FLIELLHKDQ LDETVNVEPL 

       730        740        750        760        770        780 
TKAIKYYQHL YSIHLAEQPE DCTMQLADHI KFTQSALDCM SVEVGRLRAF LQGGQEATDI 

       790        800        810        820        830        840 
ALLLRDLETS CSDIRQFCKK IRRRMPGTDA PGIPAALAFG PQVSDTLLDC RKHLTWVVAV 

       850        860        870        880        890        900 
LQEVAAAAAQ LIAPLAENEG LLVAALEELA FKASEQIYGT PSSSPYECLR QSCNILISTM 

       910        920        930        940        950        960 
NKLATAMQEG EYDAERPPSK PPPVELRAAA LRAEITDAEG LGLKLEDRET VIKELKKSLK 

       970        980        990       1000       1010       1020 
IKGEELSEAN VRLSLLEKKL DSAAKDADER IEKVQTRLEE TQALLRKKEK EFEETMDALQ 

      1030       1040       1050       1060       1070       1080 
ADIDQLEAEK AELKQRLNSQ SKRTIEGLRG PPPSGIATLV SGIAGEEQQR GAIPGQAPGS 

      1090       1100       1110       1120       1130       1140 
VPGPGLVKDS PLLLQQISAM RLHISQLQHE NSILKGAQMK ASLASLPPLH VAKLSHEGPG 

      1150       1160       1170       1180       1190       1200 
SELPAGALYR KTSQLLETLN QLSTHTHVVD ITRTSPAAKS PSAQLMEQVA QLKSLSDTVE 

      1210       1220       1230       1240       1250       1260 
KLKDEVLKET VSQRPGATVP TDFATFPSSA FLRAKEEQQD DTVYMGKVTF SCAAGFGQRH 

      1270 
RLVLTQEQLH QLHSRLIS 

Q14203 in FASTA format

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