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mutLBSgeneDB |
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| Gene summary for DCTN1 |
 Gene summary |
| Basic gene Info. | Gene symbol | DCTN1 |
| Gene name | dynactin 1 | |
| Synonyms | DAP-150|DP-150|P135 | |
| Cytomap | UCSC genome browser: 2p13 | |
| Type of gene | protein-coding | |
| RefGenes | NM_001135040.2, NM_001135041.2,NM_001190836.1,NM_001190837.1,NM_004082.4, NM_023019.3,NR_033935.1, | |
| Description | 150 kDa dynein-associated polypeptidedynactin 1 (p150, glued homolog, Drosophila)dynactin subunit 1 | |
| Modification date | 20141219 | |
| dbXrefs | MIM : 601143 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000204843 | ||
| HPRD : 07206 | ||
| Vega : OTTHUMG00000129963 | ||
| Protein | UniProt: Q14203 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_DCTN1 | |
| BioGPS: 1639 | ||
| Pathway | NCI Pathway Interaction Database: DCTN1 | |
| KEGG: DCTN1 | ||
| REACTOME: DCTN1 | ||
| Pathway Commons: DCTN1 | ||
| Context | iHOP: DCTN1 | |
| ligand binding site mutation search in PubMed: DCTN1 | ||
| UCL Cancer Institute: DCTN1 | ||
| Assigned class in mutLBSgeneDB | C: This gene just belongs to mutLBSgenes. | |
| Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez |
| GO ID | GO Term | PubMed ID |
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| Ligand binding site mutations for DCTN1 |
| Lollipop-style diagram of mutations at LBS in amino-acid sequence. We represented ligand binding site mutations only. (You can see big image via clicking.)  : non-synonymous mutation on LBS, Circle size denotes number of samples. |
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| Cancer type specific mutLBS sorted by frequency |
| LBS | AAchange of nsSNV | Cancer type | # samples | F52 | F52C | KIRC | 1 | R90 | R90C | LUSC | 1 |
| cf) Cancer type abbreviation. BLCA: Bladder urothelial carcinoma, BRCA: Breast invasive carcinoma, CESC: Cervical squamous cell carcinoma and endocervical adenocarcinoma, COAD: Colon adenocarcinoma, GBM: Glioblastoma multiforme, LGG: Brain lower grade glioma, HNSC: Head and neck squamous cell carcinoma, KICH: Kidney chromophobe, KIRC: Kidney renal clear cell carcinoma, KIRP: Kidney renal papillary cell carcinoma, LAML: Acute myeloid leukemia, LUAD: Lung adenocarcinoma, LUSC: Lung squamous cell carcinoma, OV: Ovarian serous cystadenocarcinoma, PAAD: Pancreatic adenocarcinoma, PRAD: Prostate adenocarcinoma, SKCM: Skin cutaneous melanoma, STAD: Stomach adenocarcinoma, THCA: Thyroid carcinoma, UCEC: Uterine corpus endometrial carcinoma. |
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| Protein structure related information for DCTN1 |
| Relative protein structure stability change (ΔΔE) using Mupro 1.1 Mupro score denotes assessment of the effect of mutations on thermodynamic stability. (ΔΔE<0: mutation decreases stability, ΔΔE>0: mutation increases stability) |
 : nsSNV at non-LBS : nsSNV at LBS |
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| nsSNVs sorted by the relative stability change of protein structure by each mutation Blue: mutations of positive stability change. and red : the most recurrent mutation for this gene. |
| LBS | AAchange of nsSNV | Relative stability change | R90 | R90C | 0.16460998 | F52 | F52C | -0.70136119 |
| (MuPro1.1: Jianlin Cheng et al., Prediction of Protein Stability Changes for Single-Site Mutations Using Support Vector Machines, PROTEINS: Structure, Function, and Bioinformatics. 2006, 62:1125-1132) |
| Structure image for DCTN1 from PDB |
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| Differential gene expression and gene-gene network for DCTN1 |
| Differential gene expression between mutated and non-mutated LBS samples in all 16 major cancer types |
| Differential co-expressed gene network based on protein-protein interaction data (CePIN) |
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| Phenotype information for DCTN1 |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| umls:C1868594 | Perry Syndrome | 7 | Biomarker, GeneticVariation |
| umls:C3203358 | Hypoventilation | 1 | Biomarker |
| umls:C0525045 | Mood Disorders | 1 | Biomarker |
| umls:C0242422 | Parkinsonian Disorders | 1 | Biomarker |
| Mutation level pathogenic information (ClinVar annotation) |
| Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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| Pharmacological information for DCTN1 |
| Gene expression profile of anticancer drug treated cell-lines (CCLE) Heatmap showing the correlation between gene expression and drug response across all the cell-lines. We chose the top 20 among 138 drugs.We used Pearson's correlation coefficient. |
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| Drug information targeting mutLBSgene (Approved drugs only) |
| Drug status | DrugBank ID | Name | Type | Drug structure |
| Gene-centered ligand-gene interaction network |
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| Ligands binding to mutated ligand binding site of DCTN1 go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | III | Peptide ligand (GLU,GLU,TYR) | 2hl3 | A | F52 | III | Peptide ligand (PRO,TYR,CYS,GLU,ILE,CYS,GLU,MET,PHE,GLY,HIS,TRP,ALA,THR,ASN,CYS,ASN,ASP,ASP,GLU,THR,PHE) | 2hqh | A | F52 R90 | III | Peptide ligand (PRO,TYR,CYS,GLU,ILE,CYS,GLU,MET,PHE,GLY,HIS,TRP,ALA,THR,ASN,CYS,ASN,ASP,ASP,GLU,THR,PHE) | 2hqh | B | F52 R90 | III | Peptide ligand (PRO,TYR,CYS,GLU,ILE,CYS,GLU,MET,PHE,GLY,HIS,TRP,ALA,THR,ASN,CYS,ASN,ASP,ASP,GLU,THR,PHE) | 2hqh | C | F52 R90 | III | Peptide ligand (PRO,TYR,CYS,GLU,ILE,CYS,GLU,MET,PHE,GLY,HIS,TRP,ALA,THR,ASN,CYS,ASN,ASP,ASP,GLU,THR,PHE) | 2hqh | D | F52 R90 | III | Peptide ligand (ARG,PRO,TYR,CYS,GLU,ILE,CYS,GLU,MET,PHE,GLY,HIS,TRP,ALA,THR,ASN,CYS,ASN,ASP,ASP,GLU,THR,PHE) | 3e2u | A | F52 R90 | III | Peptide ligand (ARG,PRO,TYR,CYS,GLU,ILE,CYS,GLU,MET,PHE,GLY,HIS,TRP,ALA,THR,ASN,CYS,ASN,ASP,ASP,GLU,THR,PHE) | 3e2u | B | F52 R90 | III | Peptide ligand (GLU,ARG,PRO,TYR,CYS,GLU,ILE,CYS,GLU,MET,PHE,GLY,HIS,TRP,ALA,THR,ASN,CYS,ASN,ASP,ASP,GLU,THR,PHE) | 3e2u | C | F52 R90 | III | Peptide ligand (GLU,ARG,PRO,TYR,CYS,GLU,ILE,CYS,GLU,MET,PHE,GLY,HIS,TRP,ALA,THR,ASN,CYS,ASN,ASP,ASP,GLU,THR,PHE) | 3e2u | D | F52 R90 |
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| Conservation information for LBS of DCTN1 |
| Multiple alignments for Q14203 in multiple species |
| LBS | AA sequence | # species | Species | A53 | GATLFATGKWV | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | A53 | GMTSFAVGKWV | 1 | Drosophila melanogaster | A53 | GATLXATGKWV | 1 | Gallus gallus | F52 | VGATLFATGKW | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | F52 | VGMTSFAVGKW | 1 | Drosophila melanogaster | F52 | VGATLXATGKW | 1 | Gallus gallus | F88 | EGHGIFVRQSQ | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | F88 | ENCGMFVRPTQ | 1 | Drosophila melanogaster | F88 | ENHGIFVRQSQ | 1 | Gallus gallus | G37 | RVEVIGKGHRG | 4 | Homo sapiens, Gallus gallus, Mus musculus, Rattus norvegicus | G37 | RVELTGKDLLG | 1 | Drosophila melanogaster | G55 | TLFATGKWVGV | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | G55 | TSFAVGKWVGV | 1 | Drosophila melanogaster | G55 | TLXATGKWVGV | 1 | Gallus gallus | I36 | SRVEVIGKGHR | 4 | Homo sapiens, Gallus gallus, Mus musculus, Rattus norvegicus | I36 | ARVELTGKDLL | 1 | Drosophila melanogaster | I87 | DEGHGIFVRQS | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | I87 | DENCGMFVRPT | 1 | Drosophila melanogaster | I87 | EENHGIFVRQS | 1 | Gallus gallus | K38 | VEVIGKGHRGT | 4 | Homo sapiens, Gallus gallus, Mus musculus, Rattus norvegicus | K38 | VELTGKDLLGT | 1 | Drosophila melanogaster | K56 | LFATGKWVGVI | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | K56 | SFAVGKWVGVV | 1 | Drosophila melanogaster | K56 | LXATGKWVGVI | 1 | Gallus gallus | K68 | DEAKGKNDGTV | 4 | Homo sapiens, Gallus gallus, Mus musculus, Rattus norvegicus | K68 | DEPKGKNSGSI | 1 | Drosophila melanogaster | N69 | EAKGKNDGTVQ | 4 | Homo sapiens, Gallus gallus, Mus musculus, Rattus norvegicus | N69 | EPKGKNSGSIK | 1 | Drosophila melanogaster | Q91 | GIFVRQSQIQV | 4 | Homo sapiens, Gallus gallus, Mus musculus, Rattus norvegicus | Q91 | GMFVRPTQLRL | 1 | Drosophila melanogaster | Q93 | FVRQSQIQVFE | 4 | Homo sapiens, Gallus gallus, Mus musculus, Rattus norvegicus | Q93 | FVRPTQLRLLE | 1 | Drosophila melanogaster | Q95 | RQSQIQVFEDG | 4 | Homo sapiens, Gallus gallus, Mus musculus, Rattus norvegicus | Q95 | RPTQLRLLEAA | 1 | Drosophila melanogaster | R90 | HGIFVRQSQIQ | 4 | Homo sapiens, Gallus gallus, Mus musculus, Rattus norvegicus | R90 | CGMFVRPTQLR | 1 | Drosophila melanogaster | S92 | IFVRQSQIQVF | 4 | Homo sapiens, Gallus gallus, Mus musculus, Rattus norvegicus | S92 | MFVRPTQLRLL | 1 | Drosophila melanogaster | T54 | ATLFATGKWVG | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | T54 | MTSFAVGKWVG | 1 | Drosophila melanogaster | T54 | ATLXATGKWVG | 1 | Gallus gallus | V73 | KNDGTVQGRKY | 4 | Homo sapiens, Gallus gallus, Mus musculus, Rattus norvegicus | V73 | KNSGSIKGQQY | 1 | Drosophila melanogaster | V89 | GHGIFVRQSQI | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | V89 | NCGMFVRPTQL | 1 | Drosophila melanogaster | V89 | NHGIFVRQSQI | 1 | Gallus gallus | W57 | FATGKWVGVIL | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | W57 | FAVGKWVGVVL | 1 | Drosophila melanogaster | W57 | XATGKWVGVIL | 1 | Gallus gallus |
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