Homo sapiens Protein: MID1 | |||||||||||||||||||||||
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Summary | |||||||||||||||||||||||
InnateDB Protein | IDBP-43052.7 | ||||||||||||||||||||||
Last Modified | 2014-10-13 [Report errors or provide feedback] | ||||||||||||||||||||||
Gene Symbol | MID1 | ||||||||||||||||||||||
Protein Name | midline 1 (Opitz/BBB syndrome) | ||||||||||||||||||||||
Synonyms | |||||||||||||||||||||||
Species | Homo sapiens | ||||||||||||||||||||||
Ensembl Protein | ENSP00000370159 | ||||||||||||||||||||||
InnateDB Gene | IDBG-43046 (MID1) | ||||||||||||||||||||||
Protein Structure | |||||||||||||||||||||||
UniProt Annotation | |||||||||||||||||||||||
Function | Has E3 ubiquitin ligase activity towards IGBP1, promoting its monoubiquitination, which results in deprotection of the catalytic subunit of protein phosphatase PP2A, and its subsequent degradation by polyubiquitination. {ECO:0000269PubMed:10400985, ECO:0000269PubMed:11685209, ECO:0000269PubMed:22613722}. | ||||||||||||||||||||||
Subcellular Localization | Cytoplasm {ECO:0000269PubMed:10077590}. Cytoplasm, cytoskeleton {ECO:0000269PubMed:10077590}. Cytoplasm, cytoskeleton, spindle {ECO:0000269PubMed:10077590}. Note=Microtubule-associated. It is associated with microtubules throughout the cell cycle, co-localizing with cytoplasmic fibers in interphase and with the mitotic spindle and midbodies during mitosis and cytokinesis. | ||||||||||||||||||||||
Disease Associations | Opitz GBBB syndrome 1 (OGS1) [MIM:300000]: A congenital midline malformation syndrome characterized by hypertelorism, genital-urinary defects such as hypospadias in males and splayed labia in females, cleft lip/palate, laryngotracheoesophageal abnormalities, imperforate anus, developmental delay and congenital heart defects. {ECO:0000269PubMed:11030761, ECO:0000269PubMed:15558842, ECO:0000269PubMed:9354791, ECO:0000269PubMed:9718340}. Note=The disease is caused by mutations affecting the gene represented in this entry. MID1 mutations produce proteins with a decreased affinity for microtubules. | ||||||||||||||||||||||
Tissue Specificity | In the fetus, highest expression found in kidney, followed by brain and lung. Expressed at low levels in fetal liver. In the adult, most abundant in heart, placenta and brain. | ||||||||||||||||||||||
Comments | |||||||||||||||||||||||
Interactions | |||||||||||||||||||||||
Number of Interactions |
This gene and/or its encoded proteins are associated with 49 experimentally validated interaction(s) in this database.
They are also associated with 3 interaction(s) predicted by orthology.
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Gene Ontology | |||||||||||||||||||||||
Molecular Function |
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Biological Process |
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Cellular Component |
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Protein Structure and Domains | |||||||||||||||||||||||
PDB ID | |||||||||||||||||||||||
InterPro |
IPR000315
Zinc finger, B-box IPR001841 Zinc finger, RING-type IPR001870 B30.2/SPRY domain IPR003649 B-box, C-terminal IPR003961 Fibronectin, type III IPR008985 Concanavalin A-like lectin/glucanases superfamily IPR018957 Zinc finger, C3HC4 RING-type |
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PFAM |
PF00643
PF13639 PF14634 PF00041 PF01108 PF00097 |
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PRINTS | |||||||||||||||||||||||
PIRSF | |||||||||||||||||||||||
SMART |
SM00336
SM00184 SM00502 SM00060 |
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TIGRFAMs | |||||||||||||||||||||||
Post-translational Modifications | |||||||||||||||||||||||
Modification | |||||||||||||||||||||||
Cross-References | |||||||||||||||||||||||
SwissProt | O15344 | ||||||||||||||||||||||
PhosphoSite | PhosphoSite-O15344 | ||||||||||||||||||||||
TrEMBL | C9JZJ7 | ||||||||||||||||||||||
UniProt Splice Variant | |||||||||||||||||||||||
Entrez Gene | 4281 | ||||||||||||||||||||||
UniGene | Hs.711223 | ||||||||||||||||||||||
RefSeq | |||||||||||||||||||||||
HUGO | HGNC:7095 | ||||||||||||||||||||||
OMIM | 300552 | ||||||||||||||||||||||
CCDS | |||||||||||||||||||||||
HPRD | 02047 | ||||||||||||||||||||||
IMGT | |||||||||||||||||||||||
EMBL | AC002349 AC008008 AC117406 AF035360 AF041206 AF041207 AF041208 AF041209 AF041210 AF230976 AF230977 AF269101 AK315095 BC053626 CH471074 U96409 Y13667 | ||||||||||||||||||||||
GenPept | AAB99951 AAC32998 AAC32999 AAC33000 AAC33001 AAC33002 AAG33130 AAG50191 AAG50192 AAH53626 BAG37559 CAA74018 EAW98780 | ||||||||||||||||||||||