MID1 - midline 1 Gene

Also Known as OS; FXY; OSX; GBBB; OGS1; XPRF; BBBG1; GBBB1; MIDIN; RNF59; ZNFXY; TRIM18

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 4281

About MID1

Cytogenetic location: Xp22.2 Genomic coordinates (GRCh38): X:10,445,310-10,833,683 (from NCBI)

This gene has 23 transcripts (splice variants), 276 orthologues, 80 paralogues and is associated with 3 phenotypes. Ubiquitous expression in prostate (RPKM 2.5), urinary bladder (RPKM 2.3) and 24 other tissues.

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. Alternative promoter use, alternative splicing and alternative polyadenylation result in multiple transcript variants that have different tissue specificities. [provided by RefSeq, Dec 2016]

MID1 Products (9)

mRNA	Protein	Name
NM_000381.4	NP_000372.1	E3 ubiquitin-protein ligase Midline-1 isoform 1
NM_001098624.2	NP_001092094.1	E3 ubiquitin-protein ligase Midline-1 isoform 1
NM_001193277.1	NP_001180206.1	E3 ubiquitin-protein ligase Midline-1 isoform 1
NM_001193278.1	NP_001180207.1	E3 ubiquitin-protein ligase Midline-1 isoform 3
NM_001193279.1	NP_001180208.1	E3 ubiquitin-protein ligase Midline-1 isoform 4
NM_001193280.1	NP_001180209.1	E3 ubiquitin-protein ligase Midline-1 isoform 5
NM_001347733.2	NP_001334662.1	E3 ubiquitin-protein ligase Midline-1 isoform 1
NM_033289.2	NP_150631.1	E3 ubiquitin-protein ligase Midline-1 isoform 2
NM_033290.4	NP_150632.1	E3 ubiquitin-protein ligase Midline-1 isoform 1

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables enzyme binding	IPI IPI: Inferred from physical interaction	11806752	GOA
enables identical protein binding	IPI IPI: Inferred from physical interaction	22493164	GOA
enables microtubule binding	IMP IMP: Inferred from mutant phenotype	11806752	GOA
enables phosphoprotein binding	IPI IPI: Inferred from physical interaction	11806752	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	19549727	GOA
enables protein homodimerization activity	IDA IDA: Inferred from direct assay	11806752	GOA
enables ubiquitin protein ligase binding	IPI IPI: Inferred from physical interaction	17438131	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in positive regulation of stress-activated MAPK cascade	IMP IMP: Inferred from mutant phenotype	17438131	GOA
involved in protein localization to microtubule	IMP IMP: Inferred from mutant phenotype	11806752	GOA

Cellular Component GO Annotation	Evidence	References	Source
colocalizes with cytoplasmic microtubule	IDA IDA: Inferred from direct assay	18949047	GOA
located in microtubule	IDA IDA: Inferred from direct assay	11806752	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

MID1 Protein Structure

zf-C3HC4_3

zf-B_box

fn3

PRY

SPRY

0
200
400
600
667 a.a.

Protein Preferred Names	Protein Names
E3 ubiquitin-protein ligase Midline-1	Opitz/BBB syndrome

MID1 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	MID1	O15344	FLJ13057	Homo sapiens	Q53SE7	Y2H Prey Pooling	25416956
Intra	MID1	O15344	MID2	Homo sapiens	Q9UJV3-2	Y2H Prey Pooling	25416956
Intra	MID1	O15344	MID2	Homo sapiens	Q9UJV3-2	Validated Y2H	25910212
Intra	MID1	O15344	MID2	Homo sapiens	Q9UJV3-2	Y2H Bait-Prey Pool	25910212
Intra	MID1	O15344	MID2	Homo sapiens	Q9UJV3-2	Y2H Array	25910212
Intra	MID1	O15344	MID2	Homo sapiens	Q9UJV3-2	Validated Y2H	32296183
Intra	MID1	O15344	FKBP1A	Homo sapiens	Q0VDC6	Validated Y2H	25416956
Intra	MID1	O15344	FKBP1A	Homo sapiens	Q0VDC6	Validated Y2H	32296183
Intra	MID1	O15344	IGBP1	Homo sapiens	P78318	Validated Y2H	32296183
Intra	MID1	O15344	IGBP1	Homo sapiens	P78318	Anti Tag CoIP	33961781
Intra	MID1	O15344	IGBP1	Homo sapiens	P78318	Y2H Array	32296183
Intra	MID1	O15344	IGBP1	Homo sapiens	P78318	Y2H Prey Pooling	32296183
Intra	MID1	O15344	EPN2	Homo sapiens	O95208-2	Validated Y2H	32296183
Intra	MID1	O15344	EPN2	Homo sapiens	O95208-2	Y2H Array	32296183
Intra	MID1	O15344	EPN2	Homo sapiens	O95208-2	Y2H Prey Pooling	32296183
Intra	MID1	O15344	PTCD2	Homo sapiens	Q8WV60	Validated Y2H	32296183
Intra	MID1	O15344	EPN3	Homo sapiens	I6L9I8	Y2H Array	32296183
Intra	MID1	O15344	EPN3	Homo sapiens	I6L9I8	Y2H Prey Pooling	32296183
Intra	MID1	O15344	UBE2E2	Homo sapiens	Q96LR5	Y2H Array	32296183
Intra	MID1	O15344	UBE2E2	Homo sapiens	Q96LR5	Y2H Array	19549727
Intra	MID1	O15344	UBE2E2	Homo sapiens	Q96LR5	Validated Y2H	25416956
Intra	MID1	O15344	UBE2E2	Homo sapiens	Q96LR5	Y2H Prey Pooling	32296183
Intra	MID1	O15344	UBE2E2	Homo sapiens	Q96LR5	Validated Y2H	32296183
Intra	MID1	O15344	CRY2	Homo sapiens	Q49AN0	Validated Y2H	32296183
Intra	MID1	O15344	EHHADH	Homo sapiens	Q08426	Validated Y2H	32296183
Intra	MID1	O15344	EHHADH	Homo sapiens	Q08426	Y2H Array	31515488
Intra	MID1	O15344	EHHADH	Homo sapiens	Q08426	Y2H Prey Pooling	25416956
Intra	MID1	O15344	UBE2E3	Homo sapiens	Q969T4	Y2H Array	19549727
Intra	MID1	O15344	UBE2E3	Homo sapiens	Q969T4	Validated Y2H	32296183
Intra	MID1	O15344	UBE2D3	Homo sapiens	P61077	Y2H Array	19549727
Intra	MID1	O15344	UBE2D3	Homo sapiens	P61077	Validated Y2H	32296183
Intra	MID1	O15344	UBE2E3	Homo sapiens	Q969T4	Y2H Array	31515488
Intra	MID1	O15344	UBE2D3	Homo sapiens	P61077	Y2H Array	25416956
Intra	MID1	O15344	GMCL1	Homo sapiens	Q96IK5	Validated Y2H	25910212
Intra	MID1	O15344	GMCL1	Homo sapiens	Q96IK5	Y2H Array	31515488
Intra	MID1	O15344	GMCL1	Homo sapiens	Q96IK5	Y2H Array	25910212
Intra	MID1	O15344	GMCL1	Homo sapiens	Q96IK5	Y2H Prey Pooling	32296183
Intra	MID1	O15344	GMCL1	Homo sapiens	Q96IK5	Validated Y2H	32296183
Intra	MID1	O15344	GMCL1	Homo sapiens	Q96IK5	Y2H Bait-Prey Pool	25910212
Intra	MID1	O15344	GMCL1	Homo sapiens	Q96IK5	Y2H Array	32296183
Intra	MID1	O15344	MEOX1	Homo sapiens	P50221	Y2H Bait-Prey Pool	25910212
Intra	MID1	O15344	MEOX1	Homo sapiens	P50221	Validated Y2H	25910212
Intra	MID1	O15344	MEOX1	Homo sapiens	P50221	Y2H Array	25910212
Intra	MID1	O15344	CDC37	Homo sapiens	Q16543	Validated Y2H	32296183
Intra	MID1	O15344	UBE2D2	Homo sapiens	P62837	Y2H Array	19549727
Intra	MID1	O15344	UBE2D2	Homo sapiens	P62837	Validated Y2H	32296183
Intra	MID1	O15344	BYSL	Homo sapiens	Q13895	Y2H Array	25416956
Intra	MID1	O15344	DYRK4	Homo sapiens	Q9NR20	Y2H Prey Pooling	25416956
Intra	MID1	O15344	UBE2K	Homo sapiens	P61086	Validated Y2H	32296183
Intra	MID1	O15344	N4BP1	Homo sapiens	O75113	Validated Y2H	32296183
Intra	MID1	O15344	N4BP1	Homo sapiens	O75113	Y2H Prey Pooling	32296183
Intra	MID1	O15344	N4BP1	Homo sapiens	O75113	Y2H Array	32296183
Intra	MID1	O15344	PKN1	Homo sapiens	Q16512	Validated Y2H	25416956
Intra	MID1	O15344	PKN1	Homo sapiens	Q16512	Y2H Prey Pooling	25416956
Intra	MID1	O15344	ZNF618	Homo sapiens	Q5T7W0	Y2H Prey Pooling	32296183
Intra	MID1	O15344	ZNF618	Homo sapiens	Q5T7W0	Y2H Array	32296183
Intra	MID1	O15344	ZNF618	Homo sapiens	Q5T7W0	Validated Y2H	32296183
Intra	MID1	O15344	UBE2L3	Homo sapiens	P68036	Y2H Array	19549727
Intra	MID1	O15344	UBE2L3	Homo sapiens	P68036	Validated Y2H	32296183
Intra	MID1	O15344	ELOA	Homo sapiens	Q14241	Validated Y2H	32296183
Intra	MID1	O15344	FAM50B	Homo sapiens	Q9Y247	Validated Y2H	32296183
Intra	MID1	O15344	UBE2D1	Homo sapiens	P51668	Y2H Prey Pooling	25416956
Intra	MID1	O15344	UBE2D1	Homo sapiens	P51668	Y2H Array	19549727
Intra	MID1	O15344	UBE2D1	Homo sapiens	P51668	Validated Y2H	32296183
Intra	MID1	O15344	UBE2D4	Homo sapiens	Q9Y2X8	Validated Y2H	32296183
Intra	MID1	O15344	UBE2D4	Homo sapiens	Q9Y2X8	Y2H Array	19549727
Intra	MID1	O15344	UBTD1	Homo sapiens	Q9HAC8	Y2H Array	25416956
Intra	MID1	O15344	UBTD1	Homo sapiens	Q9HAC8	Validated Y2H	25416956
Intra	MID1	O15344	UBTD1	Homo sapiens	Q9HAC8	Y2H Prey Pooling	25416956
Intra	MID1	O15344	UBTD1	Homo sapiens	Q9HAC8	Validated Y2H	32296183
Intra	MID1	O15344	OTUB2	Homo sapiens	Q96DC9	Validated Y2H	25416956
Intra	MID1	O15344	OTUB2	Homo sapiens	Q96DC9	Y2H Array	25416956
Intra	MID1	O15344	KIF9	Homo sapiens	Q9HAQ2	Validated Y2H	32296183
Intra	MID1	O15344	TCEANC	Homo sapiens	Q8N8B7	Y2H Prey Pooling	25416956
Intra	MID1	O15344	TCEANC	Homo sapiens	Q8N8B7	Validated Y2H	25416956

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Opitz Gbbb Syndrome	Opitz G/Bbb Syndrome Opitz Syndrome Hypertelorism-Hypospadias Syndrome Hypertelorism With Esophageal Abnormality And Hypospadias Opitz-Frias Syndrome Os Osx Telecanthus-Hypospadias Syndrome Opitz Gbbb Syndrome Type I Opitz Bbbg Syndrome Hypospadias-Dysphagia Syndrome Opitz Bbb/G Syndrome GBBB Opitz Gbbb Syndrome, X-Linked Opitz Syndrome, X-Linked Opitz Gbbb Syndrome, Type I, Formerly Gbbb1, Formerly Opitz-G Syndrome, Type I, Formerly Ogs1, Formerly Opitz Bbbg Syndrome, Type I, Formerly Bbbg1, Formerly Bbb Syndrome G Syndrome Gbbb Syndrome Hypertelorism Hypospadias Syndrome Hypospadias-Dysphagia, Syndrome Opitz-G Syndrome, Type 2 Telecanthus With Associated Abnormalities Hypertelorism With Esophageal Abnormalities And Hypospadias Hypertelorism-Hypospadias Sydrome Opitz Bbb Syndrome Opitz G Syndrome Hypertelorism-Oesophageal Abnormality-Hypospadias Syndrome Opitz Gbbb Syndrome 1 GBBB1 Bbbg1 Gggb1 Opitz Bbbg Syndrome Type I Opitz Gbbb Syndrome X-Linked Opitz-G Syndrome Type I Opitz Syndrome X-Linked Opitz G Syndrome, Type I Opitz Bbbg Syndrome, Type I
X-Linked Opitz G/Bbb Syndrome	Opitz Syndrome, X-Linked Xlos
Dandy-Walker Syndrome	Dandy-Walker Malformation DWS Atresia Of Foramina Of Magendie And Luschka Dandy-Walker Complex Dandy-Walker Cyst Dandy-Walker Deformity Dandy Walker Cyst Dw Complex Dandy-Walker Syndrome Or Malformation Dandy-Walker Variant Mega Cisterna Magna Dwm Hydrocephalus, Internal, Dandy-Walker Type Hydrocephalus, Noncommunicating, Dandy-Walker Type Luschka-Magendie Foramina Atresia Isolated Dandy-Walker Malformation Mega-Cisterna Magna Dandy Walker Variant Atresia Of Foramen Of Luschka Atresia Of Foramen Of Magendie Congenital Blockage Of Foramen Magendie
Hypospadias	Hypospadias Familial Familial Hypospadias
Cleft Lip	Cheiloschisis Labium Leporinum Cleft Lip, Unilateral, Complete Complete Unilateral Cleft Lip Hare Lip Congenital Fissure Of Lip Isolated Cleft Lip Cleft Lip Without Cleft Palate Cleft Lip Without Cleft Palate, Unilateral Isolated Cleft Lip, Unilateral Cleft Lip Without Cleft Palate, Bilateral Isolated Cleft Lip, Bilateral
Laryngeal Cleft	Lc Ltec Laryngo-Tracheo-Esophageal Cleft Laryngo-Tracheo-Esophageal Diastema Laryngotracheoesophageal Cleft Anterior Submucous Laryngeal Cleft Laryngotracheal Cleft Posterior Laryngeal Cleft
Non-Syndromic X-Linked Intellectual Disability 101	Mrx101 X-Linked Mental Retardation 101
Hypertelorism	Eyes Wide Apart Eyes Widely Set Hypertelorism Of Orbit Ocular Hypertelorism Orbital Separation Excessive
Cleft Lip/Palate	Cleft Lip And Palate Alveolar Cleft Lip And Palate Cleft Lip-Alveolus-Palate Syndrome Flp
Mulibrey Nanism	MUL Muscle-Liver-Brain-Eye Nanism Pericardial Constriction And Growth Failure Perheentupa Syndrome Mulibrey Growth Disorder Mulibrey Nanism Syndrome Pericardial Constriction With Growth Failure Nanism Mulibrey
Retinitis Pigmentosa 34	RP34
Neuronopathy, Distal Hereditary Motor, Type Iid	HMN2D Hmn Iid Dhmn2d Distal Hereditary Motor Neuronopathy Type 2d Distal Hereditary Motor Neuropathy Type Iid Neuronopathy, Distal Hereditary Motor, Type 2d Neuropathy, Distal Hereditary Motor, Type Iid Spinal Muscular Atrophy, Distal, Autosomal Dominant, Calf-Predominant Distal Spinal Muscular Atrophy With Calf Predominance Neuronopathy, Distal Hereditary Motor, 2d Autosomal Dominant Spinal Muscular Atrophy Distal Calf-Predominant Dhmn Iid Neuropathy, Motor, Distal, Hereditary, Type 2d
Ankyloglossia With Or Without Tooth Anomalies	Ankyloglossia ANKG 'Tongue-Tie' Tongue-Tie Tongue Tie Aberrant Insertion Of Labial Frenulum Aberrant Insertion Of Frenum Of Tongue Short Frenulum Linguae Short Frenulum Of Tongue
Anus, Imperforate	Imperforate Anus Anorectal Malformation Anal Atresia Anorectal Malformations Congenital Atresia Of Anus Congenital Or Infantile Occlusion Of Anus Anal Stenosis Arm
Distal Hereditary Motor Neuronopathy Type 2	Distal Hereditary Motor Neuropathy, Type Ii Distal Hereditary Motor Neuropathy Type 2 Distal Hereditary Motor Neuropathy Type Ii Hmn Ii Hmn2 Distal Hereditary Motor Neuronopathy, Type Ii Distal Spinal Muscular Atrophy Type 2 Dhmn2 Dsma2 Neuropathy, Motor, Distal, Hereditary, Type Ii Spinal Muscular Atrophy, Jerash Type
Non-Syndromic X-Linked Intellectual Disability	X-Linked Non-Syndromic Intellectual Disability Non-Specific X-Linked Mental Retardation X-Linked Non-Specific Intellectual Disability
Cleft Palate, Isolated	Cleft Palate Isolated Cleft Palate CPI Cp Palatoschisis Cleft Palate Isolated Uranostaphyloschisis Congenital Fissure Of Palate Cleft Of Secondary Palate

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Clinical Phase
Pre-clinical Phase

Clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Phase
HY-115461	MID-1	Inhibitor	99.36%	Phase 2

Pre-clinical Phase

Bioactive Molecules (8)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS08434	MID1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS08435	MID1IP1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS08611	MPG Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS18738	Mpg Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS18951	Mid1 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS19281	Mid1ip1 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS25441	Mid1 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS25771	Mid1ip1 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	MID1	MGD	MGI:1100537
Bos taurus	MID1	VGNC	VGNC:31464
Canis familiaris	MID1	VGNC	VGNC:43222
Rattus norvegicus	MID1	RGD	RGD:2640
Macaca mulatta	MID1	VGNC	VGNC:74721
Felis catus	MID1	VGNC	VGNC:68255
Others	MID1	NCBI