SERAC1 blocking peptide

SERAC1 Blocking Peptide (N-term)

• Synonyms: SERAC1; SERAC1 Blocking Peptide (N-term); Protein SERAC1; Serine active site-containing protein 1; SERAC1 blocking peptide

• Specificity: The synthetic peptide sequence is selected from aa 41604 of HUMAN SERAC1
• Form/Format: Synthetic peptide was lyophilized with 100% acetonitrile and is supplied as a powder. Reconstitute with 0.1 ml DI water for a final concentration of 1 mg/ml.
• Sequence Length: 654

• Cellular Location: Membrane; Single-pass membrane protein. Endoplasmic reticulum. Mitochondrion. Note: Localizes at the endoplasmic reticulum and at the endoplasmic reticulum-mitochondria interface
• Tissue Location: Widely expressed, with predominant expression in fetal skeletal muscle and adult brain. In the brain, highest levels are found in the frontal and occipital cortices, cerebellum and hippocampus.
• Preparation and Storage: Maintain refrigerated at 2-8 degree C for up to 6 months. For long term storage store at -20 degree C.

Related Product Information for SERAC1 blocking peptide

Plays an important role in the phosphatidylglycerol remodeling that is essential for both mitochondrial function and intracellular cholesterol trafficking. May catalyze the remodeling of phosphatidylglycerol and be involved in the transacylation- acylation reaction to produce phosphatidylglycerol-36:1. May be involved in bis(monoacylglycerol)phosphate biosynthetic pathway.

NCBI and Uniprot Product Information

• NCBI GI #: 74751971
• NCBI GeneID: 84947
• UniProt Accession #: Q96JX3; Q49AT1; Q5VTX3; Q6PKF3
• Molecular Weight: 18,952 Da
• NCBI Official Full Name: Protein SERAC1
• NCBI Official Synonym Full Names: serine active site containing 1
• NCBI Official Symbol: SERAC1
• NCBI Protein Information: protein SERAC1
• UniProt Protein Name: Protein SERAC1
• Protein Family: Protein
• UniProt Gene Name: SERAC1
• UniProt Entry Name: SRAC1_HUMAN

NCBI Description

The protein encoded by this gene is a phosphatidylglycerol remodeling protein found at the interface of mitochondria and endoplasmic reticula, where it mediates phospholipid exchange. The encoded protein plays a major role in mitochondrial function and intracellular cholesterol trafficking. Defects in this gene are a cause of 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome (MEGDEL). Two transcript variants, one protein-coding and the other non-protein coding, have been found for this gene. [provided by RefSeq, Aug 2012]

Uniprot Description

SERAC1: Plays an important role in the phosphatidylglycerol remodeling that is essential for both mitochondrial function and intracellular cholesterol trafficking. May catalyze the remodeling of phosphatidylglycerol and be involved in the transacylation- acylation reaction to produce phosphatidylglycerol-36:1. May be involved in bis(monoacylglycerol)phosphate biosynthetic pathway. Defects in SERAC1 are the cause of 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome (MEGDEL). An autosomal recessive disorder characterized by childhood onset of delayed psychomotor development or psychomotor regression, sensorineural deafness, spasticity or dystonia, and increased excretion of 3- methylglutaconic acid. Brain imaging shows cerebral and cerebellar atrophy as well as lesions in the basal ganglia reminiscent of Leigh syndrome. Laboratory studies show increased serum lactate and alanine, mitochondrial oxidative phosphorylation defects, abnormal mitochondria, abnormal phosphatidylglycerol and cardiolipin profiles in fibroblasts, and abnormal accumulation of unesterified cholesterol within cells. Belongs to the SERAC1 family. 3 isoforms of the human protein are produced by alternative splicing.

Protein type: Membrane protein, integral

Chromosomal Location of Human Ortholog: 6q25.3

Disease: 3-methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-like Syndrome