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mutLBSgeneDB |
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| Gene summary for MITD1 |
 Gene summary |
| Basic gene Info. | Gene symbol | MITD1 |
| Gene name | MIT, microtubule interacting and transport, domain containing 1 | |
| Synonyms | - | |
| Cytomap | UCSC genome browser: 2q11.2 | |
| Type of gene | protein-coding | |
| RefGenes | NM_138798.1, | |
| Description | MIT domain-containing protein 1 | |
| Modification date | 20141207 | |
| dbXrefs | HGNC : HGNC | |
| Ensembl : ENSG00000158411 | ||
| HPRD : 14044 | ||
| Vega : OTTHUMG00000130638 | ||
| Protein | UniProt: Q8WV92 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_MITD1 | |
| BioGPS: 129531 | ||
| Pathway | NCI Pathway Interaction Database: MITD1 | |
| KEGG: MITD1 | ||
| REACTOME: MITD1 | ||
| Pathway Commons: MITD1 | ||
| Context | iHOP: MITD1 | |
| ligand binding site mutation search in PubMed: MITD1 | ||
| UCL Cancer Institute: MITD1 | ||
| 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 MITD1 |
| 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 | E73 | E73D | COAD | 1 | K76 | K76N | COAD | 1 | E40 | E40K | HNSC | 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 MITD1 |
| 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 | K76 | K76N | -1.0550205 | E40 | E40K | -1.0412705 | E73 | E73D | -1.0269334 |
| (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 MITD1 from PDB |
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| Differential gene expression and gene-gene network for MITD1 |
| 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 MITD1 |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| Mutation level pathogenic information (ClinVar annotation) |
| Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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| Pharmacological information for MITD1 |
| 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 MITD1 go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | III | Peptide ligand (MET,GLU,ASP,GLN,LEU,SER,ARG,ARG,LEU,ALA,ALA,LEU,ARG,ASN) | 2ymb | C | E40 E73 K76 | III | Peptide ligand (MET,GLU,ASP,GLN,LEU,SER,ARG,ARG,LEU,ALA,ALA,LEU,ARG,ASN) | 2ymb | D | E40 E73 K76 | III | Peptide ligand (MET,GLU,ASP,GLN,LEU,SER,ARG,ARG,LEU,ALA,ALA,LEU,ARG,ASN) | 4a5x | A | E40 E73 K76 | III | Peptide ligand (SER,HIS,MET,GLU,ASP,GLN,LEU,SER,ARG,ARG,LEU,ALA,ALA,LEU,ARG,ASN) | 4a5x | B | E40 E73 K76 |
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| Conservation information for LBS of MITD1 |
| Multiple alignments for Q8WV92 in multiple species |
| LBS | AA sequence | # species | Species | A72 | GYMDRAENIKK | 2 | Mus musculus, Rattus norvegicus | A72 | KYMDRAENIKK | 1 | Homo sapiens | D43 | YQEGIDMLLQV | 2 | Mus musculus, Rattus norvegicus | D43 | YQEGIDLLLQV | 1 | Homo sapiens | D70 | ISGYMDRAENI | 2 | Mus musculus, Rattus norvegicus | D70 | ISKYMDRAENI | 1 | Homo sapiens | E40 | LVCYQEGIDML | 2 | Mus musculus, Rattus norvegicus | E40 | LVCYQEGIDLL | 1 | Homo sapiens | E63 | RCNLREKISKY | 1 | Homo sapiens | E63 | RCVLRTKISGY | 1 | Mus musculus | E63 | RSTLRTKISGY | 1 | Rattus norvegicus | E73 | YMDRAENIKKY | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | I42 | CYQEGIDMLLQ | 2 | Mus musculus, Rattus norvegicus | I42 | CYQEGIDLLLQ | 1 | Homo sapiens | I65 | NLREKISKYMD | 1 | Homo sapiens | I65 | VLRTKISGYMD | 1 | Mus musculus | I65 | TLRTKISGYMD | 1 | Rattus norvegicus | K50 | LLQVLKGTKES | 2 | Mus musculus, Rattus norvegicus | K50 | LLQVLKGTKDN | 1 | Homo sapiens | K76 | RAENIKKYLDQ | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | L46 | GIDMLLQVLKG | 2 | Mus musculus, Rattus norvegicus | L46 | GIDLLLQVLKG | 1 | Homo sapiens | L49 | MLLQVLKGTKE | 2 | Mus musculus, Rattus norvegicus | L49 | LLLQVLKGTKD | 1 | Homo sapiens | M69 | KISGYMDRAEN | 2 | Mus musculus, Rattus norvegicus | M69 | KISKYMDRAEN | 1 | Homo sapiens | Q39 | ALVCYQEGIDM | 2 | Mus musculus, Rattus norvegicus | Q39 | ALVCYQEGIDL | 1 | Homo sapiens | R58 | KDNTKRCNLRE | 1 | Homo sapiens | R58 | KESSKRCVLRT | 1 | Mus musculus | R58 | KESSKRSTLRT | 1 | Rattus norvegicus | R62 | KRCNLREKISK | 1 | Homo sapiens | R62 | KRCVLRTKISG | 1 | Mus musculus | R62 | KRSTLRTKISG | 1 | Rattus norvegicus | S66 | LRTKISGYMDR | 2 | Mus musculus, Rattus norvegicus | S66 | LREKISKYMDR | 1 | Homo sapiens |
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