Home
>
Product
>
Antibody
>
Rabbit Anti-RNF59/MID1/FITC Conjugated antibody
background:
Midline-1 (Tripartite motif-containing protein 18, Putative transcription factor XPRF, RING finger protein 59) is a 667 amino acid protein encoded by the human gene MID1. Midline-1 belongs to the TRIM/RBCC family and contains two B box-type zinc fingers, one B30.2/SPRY domain, one COS domain, one fibronectin type-III domain and one RING-type zinc finger. Midline-1 is believed to have E3 ubiquitin ligase activity which targets the catalytic subunit of protein phosphatase 2 for degradation. It is a cytoplasmic protein found as a homodimer or heterodimer with Midline-2. It also interacts with IGBP1 (Lymphocyte signaling protein A4). Defects in MID1 are the cause of Opitz syndrome type I (OS-I). OS-I is an X-linked recessive disorder characterized by hypertelorism, genital-urinary defects such as hypospadias in males and splayed labia in females, lip-palate-laryngotracheal clefts, imperforate anus, developmental delay and congenital heart defects. OS-I mutations produce proteins with a decreased affinity for microtubules.
Function:
Has E3 ubiquitin ligase activity towards IGBP1, promoting its monoubiquitination, which results in deprotection of the catalytic subunit of protein phosphatase PP2A, and its subsequent degradation by polyubiquitination.
Subunit:
Homodimer or heterodimer with MID2. Interacts with IGBP1.
Subcellular Location:
Cytoplasm.
Tissue Specificity:
In the fetus, highest expression found in kidney, followed by brain and lung. Expressed at low levels in fetal liver. In the adult, most abundant in heart, placenta and brain.
Post-translational modifications:
Phosphorylated on serine and threonine residues.
DISEASE:
Defects in MID1 are the cause of Opitz GBBB syndrome 1 (OGS1) [MIM:300000]. A congenital midline malformation syndrome characterized by hypertelorism, genital-urinary defects such as hypospadias in males and splayed labia in females, lip-palate-laryngotracheal clefts, imperforate anus, developmental delay and congenital heart defects. Note=MID1 mutations produce proteins with a decreased affinity for microtubules.
Similarity:
Belongs to the TRIM/RBCC family.
Contains 2 B box-type zinc fingers.
Contains 1 B30.2/SPRY domain.
Contains 1 COS domain.
Contains 1 fibronectin type-III domain.
[SIMILARITY] Contains 1 RING-type zinc finger.
Database links:
Entrez Gene: 4281 Human
Entrez Gene: 17318 Mouse
Entrez Gene: 54252 Rat
Omim: 300552 Human
SwissProt: O15344 Human
SwissProt: O70583 Mouse
SwissProt: P82458 Rat
Unigene: 27695 Human
Unigene: 689953 Human
Unigene: 34441 Mouse
Unigene: 444905 Mouse
Unigene: 92870 Mouse
Unigene: 15169 Rat
Important Note:
This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
|
|
