Midline 1 (MID1)

BBBG1; Midin; FXY; GBBB1; OGS1; OS; OSX; RNF59; TRIM18; XPRF; ZNFXY; Opitz/BBB Syndrome; RING finger protein 59; Tripartite motif-containing protein 18

SPN	U231
HGNC	7095
MGI	1100537
PubMed	23334847
RGD	2640
UniProt	O15344
Wiki	MID1

Midline-1 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.

Reference

"Opitz G/BBB syndrome, a defect of midline development, is due to mutations in a new RING finger gene on Xp22."
Nat. Genet. 17:285-291(1997) [PubMed] [Europe PMC] [Abstract]

"The human FXY gene is located within Xp22.3: implications for evolution of the mammalian X chromosome."
Hum. Mol. Genet. 7:299-305(1998) [PubMed] [Europe PMC] [Abstract]

"Characterization and physical mapping in human and mouse of a novel RING finger gene in Xp22."
Genomics 51:251-261(1998) [PubMed] [Europe PMC] [Abstract]

"New mutations in MID1 provide support for loss of function as the cause of X-linked Opitz syndrome."
Hum. Mol. Genet. 9:2553-2562(2000) [PubMed] [Europe PMC] [Abstract]

"The tripartite motif family identifies cell compartments."
EMBO J. 20:2140-2151(2001) [PubMed] [Europe PMC] [Abstract]

"Complete sequencing and characterization of 21,243 full-length human cDNAs."
Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]

"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]

"Functional characterization of the Opitz syndrome gene product (midin): evidence for homodimerization and association with microtubules throughout the cell cycle."
Hum. Mol. Genet. 8:1387-1396(1999) [PubMed] [Europe PMC] [Abstract]

"The Opitz syndrome gene product, MID1, associates with microtubules."
Proc. Natl. Acad. Sci. U.S.A. 96:2794-2799(1999) [PubMed] [Europe PMC] [Abstract]

"MID1, mutated in Opitz syndrome, encodes an ubiquitin ligase that targets phosphatase 2A for degradation."
Nat. Genet. 29:287-294(2001) [PubMed] [Europe PMC] [Abstract]

"MID1 and MID2 homo- and heterodimerise to tether the rapamycin-sensitive PP2A regulatory subunit, Alpha 4, to microtubules: implications for the clinical variability of X-linked Opitz GBBB syndrome and other developmental disorders."
BMC Cell Biol. 3:1-1(2002) [PubMed] [Europe PMC] [Abstract]

"Global, in vivo, and site-specific phosphorylation dynamics in signaling networks."
Cell 127:635-648(2006) [PubMed] [Europe PMC] [Abstract]

"A quantitative atlas of mitotic phosphorylation."
Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008) [PubMed] [Europe PMC] [Abstract]

"Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach."
Anal. Chem. 81:4493-4501(2009) [PubMed] [Europe PMC] [Abstract]

"System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation."
Sci. Signal. 4:RS3-RS3(2011) [PubMed] [Europe PMC] [Abstract]

"Monoubiquitination promotes calpain cleavage of the protein phosphatase 2A (PP2A) regulatory subunit alpha4, altering PP2A stability and microtubule-associated protein phosphorylation."
J. Biol. Chem. 287:24207-24215(2012) [PubMed] [Europe PMC] [Abstract]

"An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome."
J. Proteomics 96:253-262(2014) [PubMed] [Europe PMC] [Abstract]

"Solution structure of the RBCC/TRIM B-box1 domain of human MID1: B-box with a RING."
J. Mol. Biol. 358:532-545(2006) [PubMed] [Europe PMC] [Abstract]

"Opitz G/BBB syndrome in Xp22: mutations in the MID1 gene cluster in the carboxy-terminal domain."
Am. J. Hum. Genet. 63:703-710(1998) [PubMed] [Europe PMC] [Abstract]

Erratum
Am. J. Hum. Genet. 63:1571-1571(1998)

"Mild phenotypes in a series of patients with Opitz GBBB syndrome with MID1 mutations."
Am. J. Med. Genet. A 132:1-7(2005) [PubMed] [Europe PMC] [Abstract]