Serine palmitoyltransferase 2 Recombinant Protein | SPTLC2 recombinant protein

Recombinant Human Serine palmitoyltransferase 2

Cat. Num. AAA1254328

• Gene Names: SPTLC2; LCB2; SPT2; HSN1C; LCB2A; NSAN1C; hLCB2a
• Purity: Greater or equal to 85% purity as determined by SDS-PAGE.
• Synonyms: Serine palmitoyltransferase 2; Recombinant Human Serine palmitoyltransferase 2; Long chain base biosynthesis protein 2; LCB 2; Long chain base biosynthesis protein 2a; LCB2a; Serine-palmitoyl-CoA transferase 2; SPT 2; SPTLC2 recombinant protein

• Host: E Coli or Yeast or Baculovirus or Mammalian Cell
• Purity/Purification: Greater or equal to 85% purity as determined by SDS-PAGE.
• Form/Format: Lyophilized or liquid (Format to be determined during the manufacturing process)
• Sequence Positions: 88-562aa; Partial
• Sequence: RDFLRYWRIEKCHHATEREEQKDFVSLYQDFENFYTRNLYMRIRDNWNRPICSVPGARVDIMERQSHDYNWSFKYTGNIIKGVINMGSYNYLGFARNTGSCQEAAAKVLEEYGAGVCSTRQEIGNLDKHEELEELVARFLGVEAAMAYGMGFATNSMNIPALVGKGCLILSDELNHASLVLGARLSGATIRIFKHNNMQSLEKLLKDAIVYGQPRTRRPWKKILILVEGIYSMEGSIVRLPEVIALKKKYKAYLYLDEAHSIGALGPTGRGVVEYFGLDPEDVDVMMGTFTKSFGASGGYIGGKKELIDYLRTHSHSAVYATSLSPPVVEQIITSMKCIMGQDGTSLGKECVQQLAENTRYFRRRLKEMGFIIYGNEDSPVVPLMLYMPAKIGAFGREMLKRNIGVVVVGFPATPIIESRARFCLSAAHTKEILDTALKEIDEVGDLLQLKYSRHRLVPLLDRPFDETTYEETED
• Sequence Length: 562

• Preparation and Storage: Store at -20 degree C, for extended storage, conserve at -20 degree C or -80 degree C.

SDS-PAGE

Related Product Information for SPTLC2 recombinant protein

Serine palmitoyltransferase (SPT). The heterodimer formed with LCB1/SPTLC1 constitutes the catalytic core. The composition of the serine palmitoyltransferase (SPT) complex determines the substrate preference. The SPTLC1-SPTLC2-SPTSSA complex shows a strong preference for C16-CoA substrate, while the SPTLC1-SPTLC2-SPTSSB complex displays a preference for C18-CoA substrate.

Product Categories/Family for SPTLC2 recombinant protein

Cancer

References

Human and murine serine-palmitoyl-CoA transferase. Cloning, expression and characterization of the key enzyme in sphingolipid synthesis.Weiss B., Stoffel W.Eur. J. Biochem. 249:239-247(1997) Prediction of the coding sequences of unidentified human genes. IX. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro.Nagase T., Ishikawa K., Miyajima N., Tanaka A., Kotani H., Nomura N., Ohara O.DNA Res. 5:31-39(1998) The DNA sequence and analysis of human chromosome 14.Heilig R., Eckenberg R., Petit J.-L., Fonknechten N., Da Silva C., Cattolico L., Levy M., Barbe V., De Berardinis V., Ureta-Vidal A., Pelletier E., Vico V., Anthouard V., Rowen L., Madan A., Qin S., Sun H., Du H., Pepin K., Artiguenave F., Robert C., Cruaud C., Bruels T., Jaillon O., Friedlander L., Samson G., Brottier P., Cure S., Segurens B., Aniere F., Samain S., Crespeau H., Abbasi N., Aiach N., Boscus D., Dickhoff R., Dors M., Dubois I., Friedman C., Gouyvenoux M., James R., Madan A., Mairey-Estrada B., Mangenot S., Martins N., Menard M., Oztas S., Ratcliffe A., Shaffer T., Trask B., Vacherie B., Bellemere C., Belser C., Besnard-Gonnet M., Bartol-Mavel D., Boutard M., Briez-Silla S., Combette S., Dufosse-Laurent V., Ferron C., Lechaplais C., Louesse C., Muselet D., Magdelenat G., Pateau E., Petit E., Sirvain-Trukniewicz P., Trybou A., Vega-Czarny N., Bataille E., Bluet E., Bordelais I., Dubois M., Dumont C., Guerin T., Haffray S., Hammadi R., Muanga J., Pellouin V., Robert D., Wunderle E., Gauguet G., Roy A., Sainte-Marthe L., Verdier J., Verdier-Discala C., Hillier L.W., Fulton L., McPherson J., Matsuda F., Wilson R., Scarpelli C., Gyapay G., Wincker P., Saurin W., Quetier F., Waterston R., Hood L., Weissenbach J.Nature 421:601-607(2003) Sphingolipid synthesis identification and characterization of mammalian cDNAs encoding the Lcb2 subunit of serine palmitoyltransferase.Nagiec M.M., Lester R.L., Dickson R.C.Gene 177:237-241(1996) A molecular inventory of human pancreatic islets sequence analysis of 1000 cDNA clones.Takeda J., Yano H., Eng S., Zeng Y., Bell G.I.Hum. Mol. Genet. 2:1793-1798(1993) Cloning and initial characterization of a new subunit for mammalian serine-palmitoyltransferase.Hornemann T., Richard S., Ruetti M.F., Wei Y., von Eckardstein A.J. Biol. Chem. 281:37275-37281(2006) Identification of small subunits of mammalian serine palmitoyltransferase that confer distinct acyl-CoA substrate specificities.Han G., Gupta S.D., Gable K., Niranjanakumari S., Moitra P., Eichler F., Brown R.H. Jr., Harmon J.M., Dunn T.M.Proc. Natl. Acad. Sci. U.S.A. 106:8186-8191(2009) Mutations in the SPTLC2 subunit of serine palmitoyltransferase cause hereditary sensory and autonomic neuropathy type I.Rotthier A., Auer-Grumbach M., Janssens K., Baets J., Penno A., Almeida-Souza L., Van Hoof K., Jacobs A., De Vriendt E., Schlotter-Weigel B., Loscher W., Vondracek P., Seeman P., De Jonghe P., Van Dijck P., Jordanova A., Hornemann T., Timmerman V.Am. J. Hum. Genet. 87:513-522(2010) Initial characterization of the human central proteome.Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J.BMC Syst. Biol. 5:17-17(2011) Hereditary sensory and autonomic neuropathy type 1 (HSANI) caused by a novel mutation in SPTLC2.Murphy S.M., Ernst D., Wei Y., Laura M., Liu Y.T., Polke J., Blake J., Winer J., Houlden H., Hornemann T., Reilly M.M.Neurology 80:2106-2111(2013)

NCBI and Uniprot Product Information

• NCBI GI #: 4758668
• NCBI GeneID: 9517
• NCBI Accession #: NP_004854.1
• NCBI GenBank Nucleotide #: NM_004863.3
• UniProt Accession #: O15270; Q16685
• Molecular Weight: 69.7 kDa
• NCBI Official Full Name: serine palmitoyltransferase 2
• NCBI Official Synonym Full Names: serine palmitoyltransferase long chain base subunit 2
• NCBI Official Symbol: SPTLC2
• NCBI Official Synonym Symbols: LCB2; SPT2; HSN1C; LCB2A; NSAN1C; hLCB2a
• NCBI Protein Information: serine palmitoyltransferase 2
• UniProt Protein Name: Serine palmitoyltransferase 2
• Protein Family: Serine palmitoyltransferase
• UniProt Gene Name: SPTLC2
• UniProt Synonym Gene Names: KIAA0526; LCB2; LCB 2; LCB2a; SPT 2
• UniProt Entry Name: SPTC2_HUMAN

NCBI Description

This gene encodes a long chain base subunit of serine palmitoyltransferase. Serine palmitoyltransferase, which consists of two different subunits, is the key enzyme in sphingolipid biosynthesis. It catalyzes the pyridoxal-5-prime-phosphate-dependent condensation of L-serine and palmitoyl-CoA to 3-oxosphinganine. Mutations in this gene were identified in patients with hereditary sensory neuropathy type I. [provided by RefSeq, Mar 2011]

Uniprot Description

SPTLC2: Serine palmitoyltransferase (SPT). The heterodimer formed with LCB1/SPTLC1 constitutes the catalytic core. The composition of the serine palmitoyltransferase (SPT) complex determines the substrate preference. The SPTLC1-SPTLC2-SSSPTA complex shows a strong preference for C16-CoA substrate, while the SPTLC1-SPTLC2-SSSPTB complex displays a preference for C18-CoA substrate. Defects in SPTLC2 are the cause of hereditary sensory and autonomic neuropathy type 1C (HSAN1C). It is a form of hereditary sensory and autonomic neuropathy, a genetically and clinically heterogeneous group of disorders characterized by degeneration of dorsal root and autonomic ganglion cells, and by prominent sensory abnormalities with a variable degree of motor and autonomic dysfunction. The neurological phenotype is often complicated by severe infections, osteomyelitis, and amputations. HSAN1C symptoms include loss of touch and vibration in the feet, dysesthesia and severe panmodal sensory loss in the upper and lower limbs, distal lower limb sensory loss with ulceration and osteomyelitis, and distal muscle weakness. Belongs to the class-II pyridoxal-phosphate-dependent aminotransferase family.

Protein type: Membrane protein, integral; Lipid Metabolism - sphingolipid; Transferase; EC 2.3.1.50

Chromosomal Location of Human Ortholog: 14q24.3

Cellular Component: endoplasmic reticulum membrane; integral to membrane; mitochondrion

Molecular Function: pyridoxal phosphate binding; serine C-palmitoyltransferase activity

Biological Process: ceramide biosynthetic process; sphinganine biosynthetic process; sphingolipid biosynthetic process; sphingolipid metabolic process; sphingomyelin biosynthetic process; sphingosine biosynthetic process

Disease: Neuropathy, Hereditary Sensory And Autonomic, Type Ic