Version 5.4
Homo sapiens Gene: MID1
Summary
InnateDB Gene IDBG-43046.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol MID1
Gene Name midline 1 (Opitz/BBB syndrome)
Synonyms
Species Homo sapiens
Ensembl Gene ENSG00000101871
Encoded Proteins
IDBP-43048
midline 1 (Opitz/BBB syndrome)
IDBP-43050
midline 1 (Opitz/BBB syndrome)
IDBP-43052
midline 1 (Opitz/BBB syndrome)
IDBP-43054
midline 1 (Opitz/BBB syndrome)
IDBP-43056
midline 1 (Opitz/BBB syndrome)
IDBP-43058
midline 1 (Opitz/BBB syndrome)
IDBP-361855
midline 1 (Opitz/BBB syndrome)
IDBP-361861
midline 1 (Opitz/BBB syndrome)
IDBP-361865
midline 1 (Opitz/BBB syndrome)
IDBP-809250
midline 1
IDBP-809254
midline 1
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
InnateDB Annotation
Summary
PMID 23438823
MID1 was identified in a systematic screen for positive regulators of innate immune responses.
Entrez Gene
Summary The protein encoded by this gene is a member of the tripartite motif (TRIM) family, also known as the 'RING-B box-coiled coil' (RBCC) subgroup of RING finger proteins. The TRIM motif includes three zinc-binding domains, a RING, a B-box type 1 and a B-box type 2, and a coiled-coil region. This protein forms homodimers which associate with microtubules in the cytoplasm. The protein is likely involved in the formation of multiprotein structures acting as anchor points to microtubules. Mutations in this gene have been associated with the X-linked form of Opitz syndrome, which is characterized by midline abnormalities such as cleft lip, laryngeal cleft, heart defects, hypospadias, and agenesis of the corpus callosum. This gene was also the first example of a gene subject to X inactivation in human while escaping it in mouse. Multiple different transcript variants are generated by alternate splicing; however, the full-length nature of some of the variants has not been determined. [provided by RefSeq, Jul 2010]
Gene Information
Type Protein coding
Genomic Location Chromosome X:10445310-10833654
Strand Reverse strand
Band p22.2
Transcripts
ENST00000380787 ENSP00000370164
ENST00000380785 ENSP00000370162
ENST00000380782 ENSP00000370159
ENST00000380780 ENSP00000370157
ENST00000380779 ENSP00000370156
ENST00000317552 ENSP00000312678
ENST00000453318 ENSP00000414521
ENST00000413894 ENSP00000391154
ENST00000423614 ENSP00000387771
ENST00000479925
ENST00000610939 ENSP00000483707
ENST00000616003 ENSP00000484712
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:0046872 metal ion binding
GO:0046982 protein heterodimerization activity
GO:0051219 phosphoprotein binding
Biological Process
GO:0000226 microtubule cytoskeleton organization
GO:0007026 negative regulation of microtubule depolymerization
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:0005737 cytoplasm
GO:0005819 spindle
GO:0005874 microtubule
GO:0005875 microtubule associated complex
GO:0005881 cytoplasmic microtubule
GO:0015630 microtubule cytoskeleton
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
ENSMUSG00000035299
View Gene Order
ENSBTAG00000010152
Not yet available
Pathways
NETPATH
REACTOME
KEGG
hsa04120
Ubiquitin mediated proteolysis pathway
INOH
PID NCI
Cross-References
SwissProt
TrEMBL C9J453 C9JZJ7
UniProt Splice Variant
Entrez Gene 4281
UniGene Hs.27695 Hs.597816 Hs.711223
RefSeq NM_000381 NM_001098624 NM_001193277 NM_001193278 NM_001193279 NM_001193280 NM_001193281 NM_033289 NM_033290 XM_005274538
HUGO HGNC:7095
OMIM 300552
CCDS CCDS14138 CCDS75952 CCDS75953
HPRD 02047
IMGT
EMBL AC002349 AC008008 AC117406 U96409
GenPept
RNA Seq Atlas 4281

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca