MID1 - midline 1 Gene

Homo sapiens

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

Gene ID: 4281 | Gene type: protein coding

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

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

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

Pre-clinical Phase

Bioactive Molecules (3)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-115461	MID-1	Inhibitor	99.36%	Unkown
HY-RS08434	MID1 Human Pre-designed siRNA Set A		/	Unkown
HY-RS08435	MID1IP1 Human Pre-designed siRNA Set A		/	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

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