InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: MID1

Summary

InnateDB Protein

IDBP-43054.6

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

ENSP00000370157

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.

Experimentally validated
Total	49 [view]
Protein-Protein	48 [view]
Protein-DNA	1 [view]
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	3 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0005515	protein binding
GO:0008017	microtubule binding
GO:0008270	zinc ion binding
GO:0016874	ligase activity
GO:0031625	ubiquitin protein ligase binding
GO:0042803	protein homodimerization activity
GO:0046982	protein heterodimerization activity
GO:0051219	phosphoprotein binding

Biological Process

GO:0000226	microtubule cytoskeleton organization
GO:0007389	pattern specification process
GO:0008152	metabolic process
GO:0032874	positive regulation of stress-activated MAPK cascade
GO:0035372	protein localization to microtubule
GO:0045087	innate immune response (InnateDB)

Cellular Component

GO:0005622	intracellular
GO:0005819	spindle
GO:0005874	microtubule
GO:0005875	microtubule associated complex
GO:0005881	cytoplasmic microtubule

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
IPR003877 SPRY domain
IPR003879 Butyrophylin-like
IPR003961 Fibronectin, type III
IPR008985 Concanavalin A-like lectin/glucanases superfamily

PFAM

PF00643
PF13639
PF14634
PF00622
PF00041
PF01108

PRINTS

PR01407

PIRSF

SMART

SM00336
SM00184
SM00502
SM00449
SM00060

TIGRFAMs

Post-translational Modifications

Modification

Cross-References

SwissProt