Selected-GenAtlas references	SOURCE	GeneCards	NCBI Gene	Swiss-Prot	Orphanet	Ensembl
	HGNC	UniGene	Nucleotide	OMIM		UCSC

Home Page

FLASH GENE

Symbol

MID1

contributors: mct/npt/pgu - updated : 10-10-2017

HGNC name	midline 1 (Opitz/BBB syndrome)
HGNC id	7095

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	OGS1 Opitz-G/BBB syndrome 1
Location	Xp22.2      Physical location : 10.413.349 - 10.851.809
Synonym name	midline 1 ring finger, micrutubule associated protein
	tripartite motif protein TRIM18
	putative transcription factor XPRF
	finger on X and Y, mouse, homolog of
	RING finger protein 59
	midline 1 ring finger
Synonym symbol(s)	FXY, TRIM18, BBBG1, OSX, XPRF, OGS1, MIDIN, OS, RNF59, GBBB1, MIDIN
EC.number	6.3.2.-

DNA

TYPE	functioning gene
STRUCTURE	438.21 kb     10 Exon(s)

10 Kb 5' upstream gene genomic sequence study

regulatory sequence	alternative promoter
text structure	10 exons plus six untranslated 5'exons
	5 alternative first exons 1a,1b,1c,1d,1e

MAPPING

cloned

Y

linked

N

status

provisional

Map	pter - STS - CLCN4 - MID1 - AMELX - PRPS2 - BMX - PDHA1 - PHKA2 - PPEF1 - GK - DMD DMD - OTC OTC - cen

RNA

TRANSCRIPTS	type	messenger

text	six untranslated exons,differentially utilized, may be more than three transcrits, variant 1-isoform a, 2 and 3 encode the same protein

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_000381 10 - 6217 NP_000372 75 667 adipose tissu, placenta 2007 17428496 variant 1, isoform a NM_033290 10 - 6009 NP_150632 75 667 ubiquitous 2007 17428496 variant 3, isoform a variant 1 - - 3332 isoform B 61 552 ubiquitous 2007 17428496 variant 1, isoform B variant 1 - - 3229 isoform C - - ubiquitous 2007 17428496 variant 1, isoform C variant 1 - - 3199 isoform D - - adipose tissue 2007 17428496 variant 1, isoform D variant 1 - - 3190 isoform E - - ubiquitous 2007 17428496 variant 1, isoform E NM_001098624 10 - 6147 NP_001092094 - 667 - 2007 17428496 variant 4, isoform a

EXPRESSION

Type	ubiquitous

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Cardiovascular heart       highly Digestive mouth       highly Endocrine parathyroid       highly Hearing/Equilibrium ear       highly Nervous brain hindbrain cerebellum     Respiratory respiratory tract trachea     highly

cell lineage

cell lines

fluid/secretion

at STAGE

physiological period

fetal

Text	placenta, kidney, brain, lung, tissues, not in heart

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	N terminal RING finger
	two B box domains, linked to a leucine coiled-coil domain (RBCC subgroup) the so-called tripartite motif (TRIM) mediating homodimerization, characteristic of the B box family of proteins, involved in cell proliferation and development
	tripartite RBCC (RING-B box-coiled coil) region interacting with KRAB domains of ZNFs
	a COS (C-terminal subgroup one signature) domain
	a SCAN/KRAB domain
	a fibronectin type III domain between the RBCC
	the C terminal B30-2 or RFP-like domain, SRPY/PRY domain resposible of interaction with EEF1A1

mono polymer

homomer , heteromer , dimer

HOMOLOGY

interspecies

homolog to Xenopus XNF7

Homologene

FAMILY	B box family (cell proliferation, development)
	TRIM/RBCC family

CATEGORY

regulatory , transcription factor

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,cytoskeleton,microtubule,centrosome
	intracellular,nucleus
text	colocalizing with cytoplasmic fibres in interphase and with the mitotic spindle and midbodies during mitosis and cytokinesis
	specific association of the MID1 mRNA with the microtubule-organising centre

basic FUNCTION	transcriptional regulator with E3 ubiquitin ligase activity that normally targets phosphatase 2A for degradation
	associating with microtubules and influencing microtubule dynamics throughout the cell cycle
	involved in body axis patterning and cell transformation
	having a function in directing translational control to the cytoskeleton
	function as an E3 ligase targeting the catalytic subunit of protein phosphatase 2A (PP2A-C) for ubiquitin-mediated degradation

CELLULAR PROCESS	cell life, proliferation/growth
	nucleotide, transcription

PHYSIOLOGICAL PROCESS

development

PATHWAY

metabolism

signaling

FRAP1/PP2R4 signaling cascade

a component	component of large protein complexes
	core of a microtubule-associated mRNP complex that links cytoskeleton-associated mRNA transport and translation control factors with members of the FRAP1/PP2R4 signaling cascade
	heterodimer with MID2
	MID1/PP2A axis is an important regulator of MTOR signaling and dysregulation of MTOR signaling plays a key role in the pathogenesis of Opitz syndrome

INTERACTION

DNA

RNA

small molecule

protein	interacting with ZNF689 (KRAB-ZNF transcriptional repressor of MID1)
	IGBP1 interacts with MID1, a microtubule-associated ubiquitin E3 ligase that appears to regulate the function of PPP2CA
	role for MID1 in the regulation of IGBP1 that is likely to impact the stability and activity level of PPP2CA
	MID1 catalyze the polyubiquitination of IGBP1, a protein regulator of protein phosphatase 2A (PPP2CA)
	STK36 ubiquitination and cleavage is one of the key elements connecting the MID1-PPP2CA protein complex with GLI3 activity control

cell & other

REGULATION

induced by

IFN gamma and lipopolysaccharide

ASSOCIATED DISORDERS

corresponding disease(s)

OGS1

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS