MLH1 blocking peptide

MLH1 Antibody (Center) Blocking peptide

• Gene Names: MLH1; FCC2; COCA2; HNPCC; hMLH1; HNPCC2
• Synonyms: MLH1; MLH1 Antibody (Center) Blocking peptide; DNA mismatch repair protein Mlh1; MutL protein homolog 1; COCA2; MLH1 blocking peptide

• 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: 756

• Cellular Location: Nucleus
• Tissue Location: Colon, lymphocytes, breast, lung, spleen, testis, prostate, thyroid, gall bladder and heart
• 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 MLH1 blocking peptide

Heterodimerizes with PMS2 to form MutL alpha, a component of the post-replicative DNA mismatch repair system (MMR). DNA repair is initiated by MutS alpha (MSH2-MSH6) or MutS beta (MSH2-MSH6) binding to a dsDNA mismatch, then MutL alpha is recruited to the heteroduplex. Assembly of the MutL-MutS- heteroduplex ternary complex in presence of RFC and PCNA is sufficient to activate endonuclease activity of PMS2. It introduces single-strand breaks near the mismatch and thus generates new entry points for the exonuclease EXO1 to degrade the strand containing the mismatch. DNA methylation would prevent cleavage and therefore assure that only the newly mutated DNA strand is going to be corrected. MutL alpha (MLH1-PMS2) interacts physically with the clamp loader subunits of DNA polymerase III, suggesting that it may play a role to recruit the DNA polymerase III to the site of the MMR. Also implicated in DNA damage signaling, a process which induces cell cycle arrest and can lead to apoptosis in case of major DNA damages. Heterodimerizes with MLH3 to form MutL gamma which plays a role in meiosis.

NCBI and Uniprot Product Information

• NCBI GI #: 730028
• NCBI GeneID: 4292
• UniProt Accession #: P40692; B4DI13; B4DQ11; E9PCU2
• Molecular Weight: 73,837 Da
• NCBI Official Full Name: DNA mismatch repair protein Mlh1
• NCBI Official Synonym Full Names: mutL homolog 1
• NCBI Official Symbol: MLH1
• NCBI Official Synonym Symbols: FCC2; COCA2; HNPCC; hMLH1; HNPCC2
• NCBI Protein Information: DNA mismatch repair protein Mlh1
• UniProt Protein Name: DNA mismatch repair protein Mlh1
• Protein Family: Putative MutL protein
• UniProt Gene Name: MLH1
• UniProt Synonym Gene Names: COCA2
• UniProt Entry Name: MLH1_HUMAN

NCBI Description

This gene was identified as a locus frequently mutated in hereditary nonpolyposis colon cancer (HNPCC). It is a human homolog of the E. coli DNA mismatch repair gene mutL, consistent with the characteristic alterations in microsatellite sequences (RER+phenotype) found in HNPCC. Alternative splicing results in multiple transcript variants encoding distinct isoforms. Additional transcript variants have been described, but their full-length natures have not been determined.[provided by RefSeq, Nov 2009]

Uniprot Description

MLH1: a protein involved in the repair of mismatches in DNA. Binds PMS2 or MLH1 and MLH3. Part of the BRCA1-associated genome surveillance complex (BASC), which contains BRCA1, MSH2, MSH6, MLH1, ATM, BLM, PMS2 and the RAD50- MRE11-NBS1 protein complex. This association could be a dynamic process changing throughout the cell cycle and within subnuclear domains. Interacts with MBD4. Interacts with EXO1. Defects in MLH1 are the cause of hereditary non-polyposis colorectal cancer type 2; Turcot syndrome, an autosomal dominant disorder characterized by malignant tumors of the brain; Muir-Torre syndrome (MTS), a rare autosomal dominant disorder characterized by sebaceous neoplasms and visceral malignancy; lobular carcinoma in situ; endometrial cancer; and non-polyposis colorectal cancer.

Protein type: Tumor suppressor; DNA repair, damage

Chromosomal Location of Human Ortholog: 3p21.3

Cellular Component: chiasma; membrane; MutLalpha complex; nucleoplasm; nucleus; synaptonemal complex

Molecular Function: ATPase activity; MutSalpha complex binding; protein binding; single-stranded DNA binding

Biological Process: mismatch repair; somatic hypermutation of immunoglobulin genes

Disease: Colorectal Cancer, Hereditary Nonpolyposis, Type 2; Mismatch Repair Cancer Syndrome; Muir-torre Syndrome