MID1 (midline 1)

2014-08-01  

Identity

HGNC
MID1
LOCATION
Xp22.2
LOCUSID
4281
ALIAS
BBBG1,FXY,GBBB1,MIDIN,OGS1,OS,OSX,RNF59,TRIM18,XPRF,ZNFXY
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 4281
MIM: 300552
HGNC: 7095
Ensembl: ENSG00000101871

Variants:

dbSNP: 4281
ClinVar: 4281
TCGA: ENSG00000101871
COSMIC: MID1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000101871ENST00000317552O15344
ENSG00000101871ENST00000317552A0A024RBV4
ENSG00000101871ENST00000380779O15344
ENSG00000101871ENST00000380779A0A024RBV4
ENSG00000101871ENST00000380780O15344
ENSG00000101871ENST00000380780A0A024RBV4
ENSG00000101871ENST00000380782O15344
ENSG00000101871ENST00000380785O15344
ENSG00000101871ENST00000380785A0A024RBV4
ENSG00000101871ENST00000380787O15344
ENSG00000101871ENST00000380787A0A024RBV4
ENSG00000101871ENST00000413894C9J453
ENSG00000101871ENST00000453318O15344
ENSG00000101871ENST00000453318A0A024RBV4
ENSG00000101871ENST00000610939A0A087X0X0
ENSG00000101871ENST00000616003A0A087X255

Expression (GTEx)

0
5
10
15
20
25
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Ubiquitin mediated proteolysisKEGGko04120
Ubiquitin mediated proteolysisKEGGhsa04120
Immune SystemREACTOMER-HSA-168256
Cytokine Signaling in Immune systemREACTOMER-HSA-1280215
Interferon SignalingREACTOMER-HSA-913531
Interferon gamma signalingREACTOMER-HSA-877300

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
116852092001MID1, mutated in Opitz syndrome, encodes an ubiquitin ligase that targets phosphatase 2A for degradation.86
233348472013The E3 ubiquitin ligase midline 1 promotes allergen and rhinovirus-induced asthma by inhibiting protein phosphatase 2A activity.53
124116022002The Opitz syndrome gene Mid1 is transcribed from a human endogenous retroviral promoter.40
124116022002The Opitz syndrome gene Mid1 is transcribed from a human endogenous retroviral promoter.40
174284962007Solution structure of the MID1 B-box2 CHC(D/C)C(2)H(2) zinc-binding domain: insights into an evolutionarily conserved RING fold.36
234435392013Translation of HTT mRNA with expanded CAG repeats is regulated by the MID1-PP2A protein complex.30
118067522002MID1 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.28
215555912011Control of mTORC1 signaling by the Opitz syndrome protein MID1.26
128334032003X-linked Opitz syndrome: novel mutations in the MID1 gene and redefinition of the clinical spectrum.24
181726922008The Opitz syndrome gene product MID1 assembles a microtubule-associated ribonucleoprotein complex.22

Citation

Dessen P

MID1 (midline 1)

Atlas Genet Cytogenet Oncol Haematol. 2014-08-01

Online version: http://atlasgeneticsoncology.org/gene/54457/mid1-(midline-1)