PTRH2 / BIT1 (64-179, His-tag) Human Protein

Specifications

Product Data
Species	Human
Expression Host	E. coli
Expression cDNA Clone or AA Sequence	Protein Sequence (showhide) MGSSHHHHHH SSGLVPRGSH MEYKMILVVR NDLKMGKGKV AAQCSHAAVS AYKQIQRRNP EMLKQWEYCG QPKVVVKAPD EETLIALLAH AKMLGLTVSL IQDAGRTQIA PGSQTVLGIG PGPADLIDKV TGHLKLY
Tag	His-tag
Predicted MW	14.9 kDa
Concentration	lot specific
Purity	>95%
Buffer	Presentation State: Purified State: Liquid purified protein Buffer System: 20 mM Tris buffer (pH 8.0) containing 10% glycerol, 1 mM DTT
Preparation	Liquid purified protein
Protein Description	Recombinant human PTRH2 protein was expressed in E.coli and purified by using conventional chromatography techniques.
Storage	Store undiluted at 2-8°C for up to two weeks or (in aliquots) at -20°C or -70°C for longer. Avoid repeated freezing and thawing.
Stability	Shelf life: one year from despatch.
Reference Data
RefSeq	NP_001015509
Locus ID	51651
UniProt ID	Q9Y3E5, J3KQ48
Cytogenetics	17q23.1
Synonyms	BIT1; CFAP37; CGI-147; IMNEPD; PTH; PTH 2; PTH2
Summary	The protein encoded by this gene is a mitochondrial protein with two putative domains, an N-terminal mitochondrial localization sequence, and a UPF0099 domain. In vitro assays suggest that this protein possesses peptidyl-tRNA hydrolase activity, to release the peptidyl moiety from tRNA, thereby preventing the accumulation of dissociated peptidyl-tRNA that could reduce the efficiency of translation. This protein also plays a role regulating cell survival and death. It promotes survival as part of an integrin-signaling pathway for cells attached to the extracellular matrix (ECM), but also promotes apoptosis in cells that have lost their attachment to the ECM, a process called anoikos. After loss of cell attachment to the ECM, this protein is phosphorylated, is released from the mitochondria into the cytosol, and promotes caspase-independent apoptosis through interactions with transcriptional regulators. This gene has been implicated in the development and progression of tumors, and mutations in this gene have been associated with an infantile multisystem neurologic, endocrine, and pancreatic disease (INMEPD) characterized by intellectual disability, postnatal microcephaly, progressive cerebellar atrophy, hearing impairment, polyneuropathy, failure to thrive, and organ fibrosis with exocrine pancreas insufficiency (PMID: 25574476). Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Mar 2015]
Protein Families	Transmembrane

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