MID1 information

MID1
Available structures
PDB	Ortholog search: PDBe RCSB
List of PDB id codes
	2DQ5, 2FFW, 2JUN, 5IM8
Identifiers
Aliases	MID1, BBBG1, FXY, GBBB1, MIDIN, OGS1, OS, OSX, RNF59, TRIM18, XPRF, ZNFXY, midline 1, GBBB
External IDs	OMIM: 300552; MGI: 1100537; HomoloGene: 7837; GeneCards: MID1; OMA:MID1 - orthologs
Gene location (Human)
Chr.	X chromosome (human)
End	10,833,654 bp
Gene location (Mouse)
Chr.	X chromosome (mouse)
End	168,788,732 bp
RNA expression pattern
	Top expressed in
	mucosa of paranasal sinus; ; ventricular zone; ; pancreatic ductal cell; ; hair follicle; ; bronchial epithelial cell; ; seminal vesicula; ; right ventricle; ; Epithelium of choroid plexus; ; ganglionic eminence; ; mucosa of urinary bladder;
	Top expressed in
	neural layer of retina; ; genital tubercle; ; zygote; ; ventricular zone; ; Paneth cell; ; maxillary prominence; ; internal carotid artery; ; ciliary body; ; tail of embryo; ; mandibular prominence;
	More reference expression data
	; ;
	More reference expression data
Gene ontology
Molecular function	protein homodimerization activity; microtubule binding; zinc ion binding; metal ion binding; phosphoprotein binding; protein binding; identical protein binding; protein heterodimerization activity; ubiquitin protein ligase binding; transferase activity;
Cellular component	cytoplasm; cytosol; microtubule cytoskeleton; spindle; intracellular anatomical structure; microtubule associated complex; cytoplasmic microtubule; microtubule; cytoskeleton;
Biological process	pattern specification process; interferon-gamma-mediated signaling pathway; negative regulation of microtubule depolymerization; protein localization to microtubule; microtubule cytoskeleton organization; positive regulation of stress-activated MAPK cascade;
	Sources:Amigo / QuickGO
Orthologs
	4281
	17318
	ENSG00000101871
	ENSMUSG00000035299
	O15344
	O70583
NM_000381; NM_001098624; NM_001193277; NM_001193278; NM_001193279;
	NM_001193280; NM_001193281; NM_033289; NM_033290; NM_033291; NM_001347733
NM_001290504; NM_001290505; NM_001290506; NM_001290512; NM_010797;
	NM_183151
NP_000372; NP_001092094; NP_001180206; NP_001180207; NP_001180208;
	NP_001180209; NP_001334662; NP_150631; NP_150632
	NP_001277433; NP_001277434; NP_001277435; NP_001277441; NP_034927
	Wikidata
View/Edit Human	View/Edit Mouse

MID1 is a protein that belongs to the Tripartite motif family (TRIM) and is also known as TRIM18.^[5]^[6] The MID1 gene is located on the short arm of the X chromosome and loss-of-function mutations in this gene are causative of the X-linked form of a rare developmental disease, Opitz G/BBB Syndrome.^[5]^[7]

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000101871 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000035299 – Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ ^a ^b Quaderi NA, Schweiger S, Gaudenz K, Franco B, Rugarli EI, Berger W, et al. (November 1997). "Opitz G/BBB syndrome, a defect of midline development, is due to mutations in a new RING finger gene on Xp22". Nature Genetics. 17 (3): 285–91. doi:10.1038/ng1197-285. hdl:2066/24575. PMID 9354791. S2CID 5832037.
^ Reymond A, Meroni G, Fantozzi A, Merla G, Cairo S, Luzi L, et al. (May 2001). "The tripartite motif family identifies cell compartments". The EMBO Journal. 20 (9): 2140–51. doi:10.1093/emboj/20.9.2140. PMC 125245. PMID 11331580.
^ Opitz JM (October 1987). "G syndrome (hypertelorism with esophageal abnormality and hypospadias, or hypospadias-dysphagia, or "Opitz-Frias" or "Opitz-G" syndrome)--perspective in 1987 and bibliography". American Journal of Medical Genetics. 28 (2): 275–85. doi:10.1002/ajmg.1320280203. PMID 3322001.

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000101871 – Ensembl, May 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000035299 – Ensembl, May 2017

[3] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[4] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[Quaderi_1997-5] Quaderi NA, Schweiger S, Gaudenz K, Franco B, Rugarli EI, Berger W, et al. (November 1997). "Opitz G/BBB syndrome, a defect of midline development, is due to mutations in a new RING finger gene on Xp22". Nature Genetics. 17 (3): 285–91. doi:10.1038/ng1197-285. hdl:2066/24575. PMID 9354791. S2CID 5832037.

[Reymond_2001-6] Reymond A, Meroni G, Fantozzi A, Merla G, Cairo S, Luzi L, et al. (May 2001). "The tripartite motif family identifies cell compartments". The EMBO Journal. 20 (9): 2140–51. doi:10.1093/emboj/20.9.2140. PMC 125245. PMID 11331580.

[7] Opitz JM (October 1987). "G syndrome (hypertelorism with esophageal abnormality and hypospadias, or hypospadias-dysphagia, or "Opitz-Frias" or "Opitz-G" syndrome)--perspective in 1987 and bibliography". American Journal of Medical Genetics. 28 (2): 275–85. doi:10.1002/ajmg.1320280203. PMID 3322001.

MID1 information

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