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MLH1 (human)

Overview 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. Note: This description may include information from UniProtKB. Protein type: DNA repair Cellular Component: MutLalpha complex; male germ cell nucleus; chiasma; synaptonemal complex; nucleus Molecular Function: protein binding; ATPase activity; guanine/thymine mispair binding; MutSalpha complex binding; single-stranded DNA binding; ATP binding Biological Process: ATP catabolic process; response to drug; oogenesis; mismatch repair; response to toxin; somatic hypermutation of immunoglobulin genes; negative regulation of mitotic recombination; isotype switching; spindle midzone assembly involved in meiosis; double-strand break repair via nonhomologous end joining; pachytene; poly(A) tail shortening; meiotic metaphase I plate congression; DNA damage response, signal transduction resulting in induction of apoptosis; meiotic recombination; response to hypoxia; male meiosis chromosome segregation; resolution of meiotic joint molecules as recombinants; spermatogenesis Reference #:  P40692 (UniProtKB) Alt. Names/Synonyms: COCA2; DNA mismatch repair protein Mlh1; FCC2; hMLH1; HNPCC; HNPCC2; MGC5172; MLH1; mutL homolog 1, colon cancer, nonpolyposis type 2 (E. coli); MutL protein homolog 1 Gene Symbols: MLH1 Molecular weight: 84,601 Da Basal Isoelectric point: 5.51  Predict pI for various phosphorylation states Protein-Specific Antibodies or siRNAs from Cell Signaling Technology®

Select Structure to View Below MLH1 3NA3 - A=1-347 (human) 3RBN - A/B=486-751 (human)

STRING  |  Scansite  |  Phospho.ELM  |  NetworKIN  |  Pfam  |  RCSB PDB 3NA3 3RBN  |  Phospho3D  |  DISEASE 114030 120436 158320 276300 609310  |  UniProtKB  |  Entrez-Gene  |  Ensembl Gene

	Modification Sites and Domains	Show Modification Legend
Click here to view phosphorylation modifications only

	Modification Sites in Parent Protein, Orthologs, and Isoforms	Show Modification Legend

SS  SS: The number of records in which this modification site was determined using site-specific methods. SS methods include amino acid sequencing, site-directed mutagenesis, modification site-specific antibodies, specific MS strategies, etc.	MS  MS: The number of records in which this modification site was assigned using ONLY proteomic discovery-mode mass spectrometry.			human
0	1		K164	YNIATRRKALkNPSE
0	1		K164-u	YNIATRRkALkNPSE
0	1		K167	ATRRkALKNPSEEYG
0	1		K167-u	ATRRkALkNPSEEYG
0	1		K175	NPSEEYGKILEVVGR
0	1		Y183-p	ILEVVGRySVHNAGI
0	1		S184	LEVVGRySVHNAGIS
0	1		K196-u	GISFSVKkQGETVAD
0	1		S269	INHRLVESTSLRKAI
0	1		T288-p	AAYLPKNtHPFLyLs
0	1		Y293-p	KNtHPFLyLsLEISP
0	1		S295-p	tHPFLyLsLEISPQN
0	1		K333-u	VQQHIESkLLGSNSS
0	1		S370-p	TTSLTSSsTSGSSDK
0	8		Y379-p	SGSSDKVyAHQMVRt
0	1		T386-p	yAHQMVRtDSREQKL
1	0		S406-p	PLSKPLSsQPQAIVT
0	3		S467-p	EKRGPTSsNPRKRHR
0	1		P469	RGPTSsNPRKRHRED
0	178		S477-p	RKRHREDsDVEMVED
0	8		T495-p	KEMTAACtPRRRIIN
0	1		S508-p	INLTSVLsLQEEINE
0	5		K751-u	ANLPDLYkVFERC__

	mouse
K164-a	YNIITRRkALkNPSE
K164	YNIITRRKALkNPSE
K167-a	ITRRkALkNPSEEYG
K167	ITRRkALKNPSEEYG
K175-a	NPSEEYGkILEVVGR
Y183	ILEVVGRYsIHNSGI
S184-p	LEVVGRYsIHNSGIS
K196	GISFSVKKQGETVSD
S269-p	INHRLVEsAALRKAI
T288	AAYLPKNTHPFLYLS
Y293	KNTHPFLYLSLEISP
S295	THPFLYLSLEISPQN
K333	VQQHIESKLLGSNSS
S370	TTGVASSSTSGSGDK
Y379	SGSGDKVYAYQMVRT
T386	YAYQMVRTDSREQKL
S406	PVSSLGPSQPQDPAP
S469-p	QKAAPTSsPGSsRKR
S473-p	PTSsPGSsRKRHRED
S481-p	RKRHREDsDVEMVEN
Y499	KEMTAACYPRRRIIN
S512	INLTSVLSLQEEISE
K755	ANLPDLYKVFERC__

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