Rabbit anti-Human, Mouse Myotubularin Related Protein 5 Polyclonal Antibody | anti-MTMR5 antibody

Myotubularin Related Protein 5, CT (MTMR5, DKFZp761D0422, MGC99700, SET Binding Factor 1, SBF1) (AP)

Cat. Num. AAA6489174

• Gene Names: SBF1; MTMR5; MGC99700; DKFZp761D0422
• Reactivity: Human, Mouse
• Applications: Western Blot, ELISA
• Purity: Purified by Protein G Affinity Chromatography.
• Synonyms: Myotubularin Related Protein 5; Polyclonal Antibody; CT (MTMR5; DKFZp761D0422; MGC99700; SET Binding Factor 1; SBF1) (AP); Myotubularin-related Protein 5; anti-MTMR5 antibody

• Host: Rabbit
• Reactivity: Human, Mouse
• Clonality: Polyclonal
• Isotype: IgG
• Specificity: Recognizes human MTMR5. Species Crossreactivity: mouse.
• Purity/Purification: Purified by Protein G Affinity Chromatography.
• Form/Format: Supplied as a liquid in PBS, pH 7.2. No preservative added. Labeled with Alkaline Phosphatase (AP).

• Applicable Applications for anti-MTMR5 antibody: Western Blot (WB), ELISA (EIA)
• Application Notes: WB: 1:100-1:500; ELISA: 1:1,000; Applications are based on unconjugated antibody.
• Immunogen: Synthetic peptide selected from the C-terminal region of human MTMR5 (KLH).
• Conjugate: AP
• Note: Preservative Free
• Preparation and Storage: May be stored at 4 degree C for short-term only. Do not freeze alkaline phosphatase conjugates which could result in a substantial loss of enzymatic activity. Light sensitive. Aliquots are stable for at least 6 months. For maximum recovery of product, centrifuge the original vial after thawing and prior to removing the cap.

Product Categories/Family for anti-MTMR5 antibody

Antibodies; Enzymes

References

1. Ota, T., et al., Nat. Genet. 36(1):40-45 (2004). 2. Strausberg, R.L., et al., Proc. Natl. Acad. Sci. USA 99(26):16899-16903 (2002). 3. Firestein, R., et al., Mol. Cell. Biol. 20(13):4900-4909 (2000). 4. Dunham, I., et al., Nature 402(6761):489-495 (1999). 5. Laporte, J., et al., Hum. Mol. Genet. 7(11):1703-1712 (1998).

NCBI and Uniprot Product Information

• NCBI GI #: 239735519
• NCBI GeneID: 6305
• NCBI Accession #: NP_002963.2
• NCBI GenBank Nucleotide #: NM_002972.2
• UniProt Accession #: O95248; O60228; Q5JXD8; Q5PPM2; Q96GR9; Q9UGB8; A6PVG9; Q59EX9; Q68CX1; Q6PGN5; Q86TK5
• Molecular Weight: 208,315 Da
• NCBI Official Full Name: myotubularin-related protein 5
• NCBI Official Synonym Full Names: SET binding factor 1
• NCBI Official Symbol: SBF1
• NCBI Official Synonym Symbols: MTMR5; MGC99700; DKFZp761D0422
• NCBI Protein Information: myotubularin-related protein 5; OTTHUMP00000196597; OTTHUMP00000196599; SET-binding factor 1; myotubularin related 5
• UniProt Protein Name: Myotubularin-related protein 5
• UniProt Gene Name: SBF1
• UniProt Synonym Gene Names: MTMR5
• UniProt Entry Name: MTMR5_HUMAN

NCBI Description

This gene encodes a member of the protein-tyrosine phosphatase family. However, the encoded protein does not appear to be a catalytically active phosphatase because it lacks several amino acids in the catalytic pocket. This protein contains a Guanine nucleotide exchange factor (GEF) domain which is necessary for its role in growth and differentiation. Mutations in this gene have been associated with Charcot-Marie-Tooth disease 4B3. Pseudogenes of this gene have been defined on chromosomes 1 and 8. [provided by RefSeq, Dec 2014]

Uniprot Description

MTMR5: a pseudophosphatase and nuclear guanine nucleotide exchange factor (GEF) that activates RAB28, a small G protein of the Rab subfamily. Lacks several amino acids in the catalytic pocket, which renders it catalytically inactive as a phosphatase. The pocket is however sufficiently preserved to bind phosphorylated substrates, and maybe protect them from phosphatases. Inhibits myoblast differentiation in vitro and induces oncogenic transformation in fibroblasts. Defects in MTMR5 are the cause of Charcot-Marie-Tooth disease type 4B3 (CMT4B3). Charcot-Marie-Tooth disease is the most common inherited disorder of the peripheral nervous system. Interacts with the SET domain of MLL1. Interacts with SUV39H1. Belongs to the protein-tyrosine phosphatase family. Non-receptor class myotubularin subfamily. Two isoforms of the human protein are produced by alternative splicing.

Protein type: Motility/polarity/chemotaxis; GEFs, Rab; GEFs; Inhibitor

Chromosomal Location of Human Ortholog: 22q13.33

Cellular Component: integral to membrane; nucleus

Molecular Function: protein tyrosine/serine/threonine phosphatase activity; Rab guanyl-nucleotide exchange factor activity

Biological Process: spermatogenesis; protein amino acid dephosphorylation

Disease: Charcot-marie-tooth Disease, Type 4b3