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MID1 (NM_000381) Human Recombinant Protein

Product Specifications

Background

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]

Overview

Purified recombinant protein of Homo sapiens midline 1 (Opitz/BBB syndrome) (MID1), transcript variant 1

Synonyms

BBBG1; FXY; GBBB1; MIDIN; OGS1; OS; OSX; RNF59; TRIM18; XPRF; ZNFXY

Gene ID

4281

UniProt

O15344, A0A024RBV4

Accession Number mRNA

NM_000381

Chromosomal Location

Xp22.2

Expression System

HEK293T

Tag

C-Myc/DDK

Related Pathways

Ubiquitin mediated proteolysis

Field of Research

Ubiquitin mediated proteolysis

Concentration

>50 ug/mL as determined by microplate BCA method

Purity

> 80% as determined by SDS-PAGE and Coomassie blue staining

Form

Liquid

Buffer

25 mM Tris.HCl, pH 7.3, 100 mM glycine, 10% glycerol

Function

Druggable Genome

Molecular Weight

75.1 kDa

Storage Conditions

Stable for 1 year at -20°C or below from date of shipment. For maximum recovery of product, centrifuge the original vial after thawing and opening the cap. For long-term storage, aliquot and store at -20°C or below. Avoid repeated freeze-thaw cycles.

Symbol

MID1

Species

Human

Protein ID

NP_000372

Gene ID URL

https://www.ncbi.nlm.nih.gov/gene/4281

Uniprot URL

https://www.uniprot.org/uniprot/O15344

Accession Number mRNA URL

https://www.ncbi.nlm.nih.gov/nuccore/NM_000381

Protein ID Link

https://www.ncbi.nlm.nih.gov/nuccore/NP_000372

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