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Mouse Anti-RNF213 Recombinant Antibody (5C12) (CBMAB-R3015-CN)


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Summary

Host Animal
Mouse
Specificity
Human
Clone
5C12
Antibody Isotype
IgG2a, κ
Application
ELISA, WB

Basic Information

Immunogen
Partial recombinant corresponding to aa. 2016-2113 from human C17orf27 (NP_065965) with GST tag
Specificity
Human
Antibody Isotype
IgG2a, κ
Application Notes
The COA includes recommended starting dilutions, optimal dilutions should be determined by the end user.

Formulations & Storage [For reference only, actual COA shall prevail!]

Format
Liquid
Buffer
PBS, pH 7.2

Target

Full Name
Ring Finger Protein 213
Introduction
This gene encodes a protein containing a C3HC4-type RING finger domain, which is a specialized type of Zn-finger that binds two atoms of zinc and is thought to be involved in mediating protein-protein interactions. The protein also contains an AAA domain, which is associated with ATPase activity. This gene is a susceptibility gene for Moyamoya disease, a vascular disorder of intracranial arteries. This gene is also a translocation partner in anaplastic large cell lymphoma and inflammatory myofibroblastic tumor cases, where a t(2;17)(p23;q25) translocation has been identified with the anaplastic lymphoma kinase (ALK) gene on chromosome 2, and a t(8;17)(q24;q25) translocation has been identified with the MYC gene on chromosome 8. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2011]
Entrez Gene ID
57674
UniProt ID
Q63HN8
Alternative Names
Ring Finger Protein 213; KIAA1618; ALK Lymphoma Oligomerization Partner On Chromosome 17; RING-Type E3 Ubiquitin Transferase RNF213; RING Finger Protein 213; Mysterin; C17orf27; ALO17; MYSTR;
Function
Atypical E3 ubiquitin ligase that can catalyze ubiquitination of both proteins and lipids, and which is involved in various processes, such as lipid metabolism, angiogenesis and cell-autonomous immunity (PubMed:21799892, PubMed:26126547, PubMed:26278786, PubMed:26766444, PubMed:30705059, PubMed:32139119, PubMed:34012115).
Acts as a key immune sensor by catalyzing ubiquitination of the lipid A moiety of bacterial lipopolysaccharide (LPS) via its RZ-type zinc-finger: restricts the proliferation of cytosolic bacteria, such as Salmonella, by generating the bacterial ubiquitin coat through the ubiquitination of LPS (PubMed:34012115).
Also acts indirectly by mediating the recruitment of the LUBAC complex, which conjugates linear polyubiquitin chains (PubMed:34012115).
Ubiquitination of LPS triggers cell-autonomous immunity, such as antibacterial autophagy, leading to degradation of the microbial invader (PubMed:34012115).
Involved in lipid metabolism by regulating fat storage and lipid droplet formation; act by inhibiting the lipolytic process (PubMed:30705059).
Also regulates lipotoxicity by inhibiting desaturation of fatty acids (PubMed:30846318).
Also acts as an E3 ubiquitin-protein ligase via its RING-type zinc finger: mediates 'Lys-63'-linked ubiquitination of target proteins (PubMed:32139119, PubMed:33842849).
Involved in the non-canonical Wnt signaling pathway in vascular development: acts by mediating ubiquitination and degradation of FLNA and NFATC2 downstream of RSPO3, leading to inhibit the non-canonical Wnt signaling pathway and promoting vessel regression (PubMed:26766444).
Also has ATPase activity; ATPase activity is required for ubiquitination of LPS (PubMed:34012115).
Biological Process
Biological Process angiogenesisManual Assertion Based On ExperimentIMP:UniProtKB
Biological Process defense response to bacteriumManual Assertion Based On ExperimentIDA:UniProtKB
Biological Process immune system processIEA:UniProtKB-KW
Biological Process lipid droplet formationManual Assertion Based On ExperimentIDA:UniProtKB
Biological Process lipid ubiquitinationManual Assertion Based On ExperimentIDA:UniProtKB
Biological Process negative regulation of non-canonical Wnt signaling pathwayManual Assertion Based On ExperimentIMP:UniProtKB
Biological Process protein autoubiquitinationManual Assertion Based On ExperimentIDA:UniProtKB
Biological Process protein K63-linked ubiquitinationManual Assertion Based On ExperimentIDA:UniProtKB
Biological Process protein ubiquitinationManual Assertion Based On ExperimentIDA:UniProtKB
Biological Process regulation of lipid metabolic processManual Assertion Based On ExperimentIDA:UniProtKB
Biological Process sprouting angiogenesisManual Assertion Based On ExperimentIMP:UniProtKB
Biological Process ubiquitin-dependent protein catabolic processManual Assertion Based On ExperimentIMP:UniProtKB
Biological Process xenophagyManual Assertion Based On ExperimentIDA:UniProtKB
Cellular Location
Cytoplasm, cytosol
Lipid droplet
Involvement in disease
Moyamoya disease 2 (MYMY2):
A progressive cerebral angiopathy characterized by bilateral intracranial carotid artery stenosis and telangiectatic vessels in the region of the basal ganglia. The abnormal vessels resemble a 'puff of smoke' (moyamoya) on cerebral angiogram. Affected individuals can develop transient ischemic attacks and/or cerebral infarction, and rupture of the collateral vessels can cause intracranial hemorrhage. Hemiplegia of sudden onset and epileptic seizures constitute the prevailing presentation in childhood, while subarachnoid bleeding occurs more frequently in adults.
PTM
Autoubiquitinated.
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For research use only. Not intended for any clinical use.

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