MLH1 - Gene info - The Human Protein Atlas

MLH1

TISSUE

SUBCELL

CELL LINE

CANCER

GENE INFORMATION

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Gene name	MLH1 (HGNC Symbol)
Synonyms	COCA2, FCC2, HNPCC, HNPCC2
Description	MutL homolog 1 (HGNC Symbol)
Entrez gene summary	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]
Chromosome	3
Cytoband	p22.2
Chromosome location (bp)	37034823 - 37107380
Protein evidence	Evidence at protein level (all genes)
Ensembl	ENSG00000076242 (version 75.37)
Entrez gene	4292
UniProt	P40692 (UniProt - Evidence at protein level)
neXtProt	NX_P40692
Antibodypedia	MLH1 antibodies

PROTEIN VIEW

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MLH1-001		MLH1-002		MLH1-003		MLH1-004		MLH1-005		MLH1-006		MLH1-007		MLH1-008		MLH1-009		MLH1-010		MLH1-011		MLH1-012		MLH1-013		MLH1-016		MLH1-018		MLH1-020		MLH1-201		MLH1-202

PROTEIN INFORMATION

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Splice variant	Ensembl	UniProt	Protein class	Gene ontology	Length (aa)	Molecular mass (kDa)	Signal peptide (predicted)	Transmembrane regions (predicted)
MLH1-001	ENSP00000231790 ENST00000231790	P40692 Show all » « Hide P40692 [Direct mapping] DNA mismatch repair protein Mlh1 Q5GJ64 [Target identity:99%; Query identity:100%] Hypothetical rhabdomyosarcoma antigen MU-RMS-40.5 B7Z821 [Target identity:60%; Query identity:100%] DNA mismatch repair protein Mlh1; cDNA FLJ55289, highly similar to DNA mismatch repair protein Mlh1 E7EUC9 [Target identity:13%; Query identity:100%] DNA mismatch repair protein Mlh1 F2Z298 [Target identity:5%; Query identity:100%] DNA mismatch repair protein Mlh1 C4PFY8 [Target identity:4%; Query identity:100%] MLH1 A8W2I7 [Target identity:3%; Query identity:100%] MutL-like 1 protein	Show » « Hide COSMIC Frameshift Mutations COSMIC Germline Mutations COSMIC Large Deletions COSMIC Missense Mutations COSMIC Nonsense Mutations COSMIC Somatic Mutations COSMIC Splicing Mutations Plasma proteins Cancer-related genes Candidate cancer biomarkers COSMIC somatic mutations in cancer genes Disease related genes Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)	Show » « Hide GO:0000289 [nuclear-transcribed mRNA poly(A) tail shortening] GO:0000712 [resolution of meiotic recombination intermediates] GO:0000793 [condensed chromosome] GO:0000794 [condensed nuclear chromosome] GO:0000795 [synaptonemal complex] GO:0001673 [male germ cell nucleus] GO:0002204 [somatic recombination of immunoglobulin genes involved in immune response] GO:0003697 [single-stranded DNA binding] GO:0005515 [protein binding] GO:0005524 [ATP binding] GO:0005634 [nucleus] GO:0005694 [chromosome] GO:0005712 [chiasma] GO:0006200 [ATP catabolic process] GO:0006281 [DNA repair] GO:0006298 [mismatch repair] GO:0006303 [double-strand break repair via nonhomologous end joining] GO:0006974 [response to DNA damage stimulus] GO:0007060 [male meiosis chromosome segregation] GO:0007129 [synapsis] GO:0007131 [reciprocal meiotic recombination] GO:0007140 [male meiosis] GO:0007283 [spermatogenesis] GO:0008630 [intrinsic apoptotic signaling pathway in response to DNA damage] GO:0016446 [somatic hypermutation of immunoglobulin genes] GO:0016447 [somatic recombination of immunoglobulin gene segments] GO:0016887 [ATPase activity] GO:0030983 [mismatched DNA binding] GO:0032137 [guanine/thymine mispair binding] GO:0032300 [mismatch repair complex] GO:0032389 [MutLalpha complex] GO:0032390 [MutLbeta complex] GO:0032407 [MutSalpha complex binding] GO:0043060 [meiotic metaphase I plate congression] GO:0043566 [structure-specific DNA binding] GO:0045132 [meiotic chromosome segregation] GO:0045190 [isotype switching] GO:0045950 [negative regulation of mitotic recombination] GO:0048477 [oogenesis] GO:0051257 [spindle midzone assembly involved in meiosis]	756	84.6	No	0
MLH1-002	ENSP00000416783 ENST00000432299	E9PF25 Show all » « Hide E9PF25 [Target identity:100%; Query identity:100%] DNA mismatch repair protein Mlh1 F2Z298 [Target identity:79%; Query identity:100%] DNA mismatch repair protein Mlh1	Show » « Hide COSMIC Frameshift Mutations COSMIC Germline Mutations COSMIC Large Deletions COSMIC Missense Mutations COSMIC Nonsense Mutations COSMIC Somatic Mutations COSMIC Splicing Mutations Cancer-related genes COSMIC somatic mutations in cancer genes Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)	Show » « Hide GO:0000289 [nuclear-transcribed mRNA poly(A) tail shortening] GO:0000712 [resolution of meiotic recombination intermediates] GO:0000795 [synaptonemal complex] GO:0001673 [male germ cell nucleus] GO:0005524 [ATP binding] GO:0005634 [nucleus] GO:0005712 [chiasma] GO:0006298 [mismatch repair] GO:0006303 [double-strand break repair via nonhomologous end joining] GO:0007060 [male meiosis chromosome segregation] GO:0007129 [synapsis] GO:0007283 [spermatogenesis] GO:0008630 [intrinsic apoptotic signaling pathway in response to DNA damage] GO:0016446 [somatic hypermutation of immunoglobulin genes] GO:0030983 [mismatched DNA binding] GO:0032137 [guanine/thymine mispair binding] GO:0032389 [MutLalpha complex] GO:0043060 [meiotic metaphase I plate congression] GO:0045190 [isotype switching] GO:0045950 [negative regulation of mitotic recombination] GO:0048477 [oogenesis] GO:0051257 [spindle midzone assembly involved in meiosis]	48	5.3	No	0
MLH1-003	ENSP00000416687 ENST00000456676	E7EUC9 Show all » « Hide E7EUC9 [Target identity:15%; Query identity:100%] DNA mismatch repair protein Mlh1 C4PFY8 [Target identity:5%; Query identity:100%] MLH1 A8W2I7 [Target identity:3%; Query identity:100%] MutL-like 1 protein	Show » « Hide COSMIC Frameshift Mutations COSMIC Germline Mutations COSMIC Large Deletions COSMIC Missense Mutations COSMIC Nonsense Mutations COSMIC Somatic Mutations COSMIC Splicing Mutations Cancer-related genes COSMIC somatic mutations in cancer genes Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)	Show » « Hide GO:0000289 [nuclear-transcribed mRNA poly(A) tail shortening] GO:0000712 [resolution of meiotic recombination intermediates] GO:0000795 [synaptonemal complex] GO:0001673 [male germ cell nucleus] GO:0005524 [ATP binding] GO:0005712 [chiasma] GO:0006298 [mismatch repair] GO:0006303 [double-strand break repair via nonhomologous end joining] GO:0007060 [male meiosis chromosome segregation] GO:0007129 [synapsis] GO:0007283 [spermatogenesis] GO:0008630 [intrinsic apoptotic signaling pathway in response to DNA damage] GO:0016446 [somatic hypermutation of immunoglobulin genes] GO:0030983 [mismatched DNA binding] GO:0032137 [guanine/thymine mispair binding] GO:0032389 [MutLalpha complex] GO:0043060 [meiotic metaphase I plate congression] GO:0045190 [isotype switching] GO:0045950 [negative regulation of mitotic recombination] GO:0048477 [oogenesis] GO:0051257 [spindle midzone assembly involved in meiosis]	679	75.7	No	0
MLH1-004	ENSP00000402667 ENST00000458205	P40692 Show all » « Hide P40692 [Direct mapping] DNA mismatch repair protein Mlh1 B7Z821 [Target identity:89%; Query identity:100%] DNA mismatch repair protein Mlh1; cDNA FLJ55289, highly similar to DNA mismatch repair protein Mlh1 E7EUC9 [Target identity:20%; Query identity:100%] DNA mismatch repair protein Mlh1 C4PFY8 [Target identity:6%; Query identity:100%] MLH1 A8W2I7 [Target identity:4%; Query identity:100%] MutL-like 1 protein	Show » « Hide COSMIC Frameshift Mutations COSMIC Germline Mutations COSMIC Large Deletions COSMIC Missense Mutations COSMIC Nonsense Mutations COSMIC Somatic Mutations COSMIC Splicing Mutations Plasma proteins Cancer-related genes Candidate cancer biomarkers COSMIC somatic mutations in cancer genes Disease related genes Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)	Show » « Hide GO:0000289 [nuclear-transcribed mRNA poly(A) tail shortening] GO:0000712 [resolution of meiotic recombination intermediates] GO:0000795 [synaptonemal complex] GO:0001673 [male germ cell nucleus] GO:0003697 [single-stranded DNA binding] GO:0005515 [protein binding] GO:0005524 [ATP binding] GO:0005634 [nucleus] GO:0005712 [chiasma] GO:0006200 [ATP catabolic process] GO:0006298 [mismatch repair] GO:0006303 [double-strand break repair via nonhomologous end joining] GO:0007060 [male meiosis chromosome segregation] GO:0007129 [synapsis] GO:0007131 [reciprocal meiotic recombination] GO:0007283 [spermatogenesis] GO:0008630 [intrinsic apoptotic signaling pathway in response to DNA damage] GO:0016446 [somatic hypermutation of immunoglobulin genes] GO:0016887 [ATPase activity] GO:0030983 [mismatched DNA binding] GO:0032137 [guanine/thymine mispair binding] GO:0032300 [mismatch repair complex] GO:0032389 [MutLalpha complex] GO:0032390 [MutLbeta complex] GO:0032407 [MutSalpha complex binding] GO:0043060 [meiotic metaphase I plate congression] GO:0045190 [isotype switching] GO:0045950 [negative regulation of mitotic recombination] GO:0048477 [oogenesis] GO:0051257 [spindle midzone assembly involved in meiosis]	515	58.4	No	0
MLH1-005	ENSP00000398272 ENST00000455445	P40692 Show all » « Hide P40692 [Direct mapping] DNA mismatch repair protein Mlh1 B7Z821 [Target identity:89%; Query identity:100%] DNA mismatch repair protein Mlh1; cDNA FLJ55289, highly similar to DNA mismatch repair protein Mlh1 E7EUC9 [Target identity:20%; Query identity:100%] DNA mismatch repair protein Mlh1 C4PFY8 [Target identity:6%; Query identity:100%] MLH1 A8W2I7 [Target identity:4%; Query identity:100%] MutL-like 1 protein	Show » « Hide COSMIC Frameshift Mutations COSMIC Germline Mutations COSMIC Large Deletions COSMIC Missense Mutations COSMIC Nonsense Mutations COSMIC Somatic Mutations COSMIC Splicing Mutations Plasma proteins Cancer-related genes Candidate cancer biomarkers COSMIC somatic mutations in cancer genes Disease related genes Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)	Show » « Hide GO:0000289 [nuclear-transcribed mRNA poly(A) tail shortening] GO:0000712 [resolution of meiotic recombination intermediates] GO:0000795 [synaptonemal complex] GO:0001673 [male germ cell nucleus] GO:0003697 [single-stranded DNA binding] GO:0005515 [protein binding] GO:0005524 [ATP binding] GO:0005634 [nucleus] GO:0005712 [chiasma] GO:0006200 [ATP catabolic process] GO:0006298 [mismatch repair] GO:0006303 [double-strand break repair via nonhomologous end joining] GO:0007060 [male meiosis chromosome segregation] GO:0007129 [synapsis] GO:0007131 [reciprocal meiotic recombination] GO:0007283 [spermatogenesis] GO:0008630 [intrinsic apoptotic signaling pathway in response to DNA damage] GO:0016446 [somatic hypermutation of immunoglobulin genes] GO:0016887 [ATPase activity] GO:0030983 [mismatched DNA binding] GO:0032137 [guanine/thymine mispair binding] GO:0032300 [mismatch repair complex] GO:0032389 [MutLalpha complex] GO:0032390 [MutLbeta complex] GO:0032407 [MutSalpha complex binding] GO:0043060 [meiotic metaphase I plate congression] GO:0045190 [isotype switching] GO:0045950 [negative regulation of mitotic recombination] GO:0048477 [oogenesis] GO:0051257 [spindle midzone assembly involved in meiosis]	515	58.4	No	0
MLH1-006	ENSP00000402564 ENST00000435176	P40692 Show all » « Hide P40692 [Direct mapping] DNA mismatch repair protein Mlh1 B7Z821 [Target identity:69%; Query identity:100%] DNA mismatch repair protein Mlh1; cDNA FLJ55289, highly similar to DNA mismatch repair protein Mlh1 E7EUC9 [Target identity:15%; Query identity:100%] DNA mismatch repair protein Mlh1 C9JZ54 [Target identity:12%; Query identity:100%] DNA mismatch repair protein Mlh1 C4PFY8 [Target identity:5%; Query identity:100%] MLH1 A8W2I7 [Target identity:3%; Query identity:100%] MutL-like 1 protein	Show » « Hide COSMIC Frameshift Mutations COSMIC Germline Mutations COSMIC Large Deletions COSMIC Missense Mutations COSMIC Nonsense Mutations COSMIC Somatic Mutations COSMIC Splicing Mutations SPOCTOPUS predicted secreted proteins Plasma proteins Cancer-related genes Candidate cancer biomarkers COSMIC somatic mutations in cancer genes Disease related genes Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)	Show » « Hide GO:0000289 [nuclear-transcribed mRNA poly(A) tail shortening] GO:0000712 [resolution of meiotic recombination intermediates] GO:0000795 [synaptonemal complex] GO:0001673 [male germ cell nucleus] GO:0003697 [single-stranded DNA binding] GO:0005515 [protein binding] GO:0005524 [ATP binding] GO:0005634 [nucleus] GO:0005712 [chiasma] GO:0006200 [ATP catabolic process] GO:0006298 [mismatch repair] GO:0006303 [double-strand break repair via nonhomologous end joining] GO:0007060 [male meiosis chromosome segregation] GO:0007129 [synapsis] GO:0007131 [reciprocal meiotic recombination] GO:0007283 [spermatogenesis] GO:0008630 [intrinsic apoptotic signaling pathway in response to DNA damage] GO:0016446 [somatic hypermutation of immunoglobulin genes] GO:0016887 [ATPase activity] GO:0030983 [mismatched DNA binding] GO:0032137 [guanine/thymine mispair binding] GO:0032300 [mismatch repair complex] GO:0032389 [MutLalpha complex] GO:0032390 [MutLbeta complex] GO:0032407 [MutSalpha complex binding] GO:0043060 [meiotic metaphase I plate congression] GO:0045190 [isotype switching] GO:0045950 [negative regulation of mitotic recombination] GO:0048477 [oogenesis] GO:0051257 [spindle midzone assembly involved in meiosis]	658	73.8	No	0
MLH1-007	ENSP00000399329 ENST00000447829	Q0ZAJ6 Show all » « Hide Q0ZAJ6 [Target identity:98%; Query identity:100%] MLH1-Ex10 isoform	Show » « Hide COSMIC Frameshift Mutations COSMIC Germline Mutations COSMIC Large Deletions COSMIC Missense Mutations COSMIC Nonsense Mutations COSMIC Somatic Mutations COSMIC Splicing Mutations Cancer-related genes COSMIC somatic mutations in cancer genes Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)	Show » « Hide GO:0005524 [ATP binding] GO:0006298 [mismatch repair] GO:0030983 [mismatched DNA binding]	58	6.4	No	0
MLH1-008	ENSP00000411066 ENST00000458009	Q16335 Show all » « Hide Q16335 [Target identity:20%; Query identity:100%] HMLH1 protein	Show » « Hide COSMIC Frameshift Mutations COSMIC Germline Mutations COSMIC Large Deletions COSMIC Missense Mutations COSMIC Nonsense Mutations COSMIC Somatic Mutations COSMIC Splicing Mutations Cancer-related genes COSMIC somatic mutations in cancer genes Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)	Show » « Hide GO:0005524 [ATP binding] GO:0006298 [mismatch repair] GO:0030983 [mismatched DNA binding]	95	10.8	No	0
MLH1-009	ENSP00000400844 ENST00000413212		Show » « Hide COSMIC Frameshift Mutations COSMIC Germline Mutations COSMIC Large Deletions COSMIC Missense Mutations COSMIC Nonsense Mutations COSMIC Somatic Mutations COSMIC Splicing Mutations Cancer-related genes COSMIC somatic mutations in cancer genes Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)		52	5.9	No	0
MLH1-010	ENSP00000393006 ENST00000450420	H0Y4N0 Show all » « Hide H0Y4N0 [Target identity:100%; Query identity:100%] DNA mismatch repair protein Mlh1	Show » « Hide COSMIC Frameshift Mutations COSMIC Germline Mutations COSMIC Large Deletions COSMIC Missense Mutations COSMIC Nonsense Mutations COSMIC Somatic Mutations COSMIC Splicing Mutations Cancer-related genes COSMIC somatic mutations in cancer genes Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)		61	7.1	No	0
MLH1-011	ENSP00000416476 ENST00000413740	H0Y806 Show all » « Hide H0Y806 [Target identity:100%; Query identity:100%] DNA mismatch repair protein Mlh1 C4PFY8 [Target identity:29%; Query identity:100%] MLH1	Show » « Hide COSMIC Frameshift Mutations COSMIC Germline Mutations COSMIC Large Deletions COSMIC Missense Mutations COSMIC Nonsense Mutations COSMIC Somatic Mutations COSMIC Splicing Mutations Cancer-related genes COSMIC somatic mutations in cancer genes Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)	Show » « Hide GO:0005524 [ATP binding] GO:0006298 [mismatch repair] GO:0030983 [mismatched DNA binding]	114	13.1	No	0
MLH1-012	ENSP00000407773 ENST00000457004	F2Z298 Show all » « Hide F2Z298 [Target identity:100%; Query identity:100%] DNA mismatch repair protein Mlh1	Show » « Hide COSMIC Frameshift Mutations COSMIC Germline Mutations COSMIC Large Deletions COSMIC Missense Mutations COSMIC Nonsense Mutations COSMIC Somatic Mutations COSMIC Splicing Mutations Cancer-related genes COSMIC somatic mutations in cancer genes Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)	Show » « Hide GO:0000289 [nuclear-transcribed mRNA poly(A) tail shortening] GO:0000712 [resolution of meiotic recombination intermediates] GO:0000795 [synaptonemal complex] GO:0001673 [male germ cell nucleus] GO:0005524 [ATP binding] GO:0005712 [chiasma] GO:0006298 [mismatch repair] GO:0006303 [double-strand break repair via nonhomologous end joining] GO:0007060 [male meiosis chromosome segregation] GO:0007129 [synapsis] GO:0007283 [spermatogenesis] GO:0008630 [intrinsic apoptotic signaling pathway in response to DNA damage] GO:0016446 [somatic hypermutation of immunoglobulin genes] GO:0032137 [guanine/thymine mispair binding] GO:0032389 [MutLalpha complex] GO:0043060 [meiotic metaphase I plate congression] GO:0045190 [isotype switching] GO:0045950 [negative regulation of mitotic recombination] GO:0048477 [oogenesis] GO:0051257 [spindle midzone assembly involved in meiosis]	38	4.2	No	0
MLH1-013	ENSP00000387511 ENST00000442249	F2Z298 Show all » « Hide F2Z298 [Target identity:100%; Query identity:100%] DNA mismatch repair protein Mlh1	Show » « Hide COSMIC Frameshift Mutations COSMIC Germline Mutations COSMIC Large Deletions COSMIC Missense Mutations COSMIC Nonsense Mutations COSMIC Somatic Mutations COSMIC Splicing Mutations Cancer-related genes COSMIC somatic mutations in cancer genes Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)	Show » « Hide GO:0000289 [nuclear-transcribed mRNA poly(A) tail shortening] GO:0000712 [resolution of meiotic recombination intermediates] GO:0000795 [synaptonemal complex] GO:0001673 [male germ cell nucleus] GO:0005524 [ATP binding] GO:0005712 [chiasma] GO:0006298 [mismatch repair] GO:0006303 [double-strand break repair via nonhomologous end joining] GO:0007060 [male meiosis chromosome segregation] GO:0007129 [synapsis] GO:0007283 [spermatogenesis] GO:0008630 [intrinsic apoptotic signaling pathway in response to DNA damage] GO:0016446 [somatic hypermutation of immunoglobulin genes] GO:0032137 [guanine/thymine mispair binding] GO:0032389 [MutLalpha complex] GO:0043060 [meiotic metaphase I plate congression] GO:0045190 [isotype switching] GO:0045950 [negative regulation of mitotic recombination] GO:0048477 [oogenesis] GO:0051257 [spindle midzone assembly involved in meiosis]	38	4.2	No	0
MLH1-016	ENSP00000407019 ENST00000429117	C9JZ54 Show all » « Hide C9JZ54 [Target identity:100%; Query identity:100%] DNA mismatch repair protein Mlh1	Show » « Hide COSMIC Frameshift Mutations COSMIC Germline Mutations COSMIC Large Deletions COSMIC Missense Mutations COSMIC Nonsense Mutations COSMIC Somatic Mutations COSMIC Splicing Mutations Cancer-related genes COSMIC somatic mutations in cancer genes Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)	Show » « Hide GO:0005524 [ATP binding] GO:0006298 [mismatch repair] GO:0030983 [mismatched DNA binding]	83	8.9	No	0
MLH1-018	ENSP00000392649 ENST00000454028	F2Z298 Show all » « Hide F2Z298 [Target identity:100%; Query identity:100%] DNA mismatch repair protein Mlh1	Show » « Hide COSMIC Frameshift Mutations COSMIC Germline Mutations COSMIC Large Deletions COSMIC Missense Mutations COSMIC Nonsense Mutations COSMIC Somatic Mutations COSMIC Splicing Mutations Cancer-related genes COSMIC somatic mutations in cancer genes Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)	Show » « Hide GO:0000289 [nuclear-transcribed mRNA poly(A) tail shortening] GO:0000712 [resolution of meiotic recombination intermediates] GO:0000795 [synaptonemal complex] GO:0001673 [male germ cell nucleus] GO:0005524 [ATP binding] GO:0005712 [chiasma] GO:0006298 [mismatch repair] GO:0006303 [double-strand break repair via nonhomologous end joining] GO:0007060 [male meiosis chromosome segregation] GO:0007129 [synapsis] GO:0007283 [spermatogenesis] GO:0008630 [intrinsic apoptotic signaling pathway in response to DNA damage] GO:0016446 [somatic hypermutation of immunoglobulin genes] GO:0032137 [guanine/thymine mispair binding] GO:0032389 [MutLalpha complex] GO:0043060 [meiotic metaphase I plate congression] GO:0045190 [isotype switching] GO:0045950 [negative regulation of mitotic recombination] GO:0048477 [oogenesis] GO:0051257 [spindle midzone assembly involved in meiosis]	38	4.2	No	0
MLH1-020	ENSP00000398392 ENST00000441265	E7EUC9 Show all » « Hide E7EUC9 [Target identity:100%; Query identity:100%] DNA mismatch repair protein Mlh1	Show » « Hide COSMIC Frameshift Mutations COSMIC Germline Mutations COSMIC Large Deletions COSMIC Missense Mutations COSMIC Nonsense Mutations COSMIC Somatic Mutations COSMIC Splicing Mutations Cancer-related genes COSMIC somatic mutations in cancer genes Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)	Show » « Hide GO:0000289 [nuclear-transcribed mRNA poly(A) tail shortening] GO:0000712 [resolution of meiotic recombination intermediates] GO:0000795 [synaptonemal complex] GO:0001673 [male germ cell nucleus] GO:0005524 [ATP binding] GO:0005712 [chiasma] GO:0006298 [mismatch repair] GO:0006303 [double-strand break repair via nonhomologous end joining] GO:0007060 [male meiosis chromosome segregation] GO:0007129 [synapsis] GO:0007283 [spermatogenesis] GO:0008630 [intrinsic apoptotic signaling pathway in response to DNA damage] GO:0016446 [somatic hypermutation of immunoglobulin genes] GO:0030983 [mismatched DNA binding] GO:0032137 [guanine/thymine mispair binding] GO:0032389 [MutLalpha complex] GO:0043060 [meiotic metaphase I plate congression] GO:0045190 [isotype switching] GO:0045950 [negative regulation of mitotic recombination] GO:0048477 [oogenesis] GO:0051257 [spindle midzone assembly involved in meiosis]	105	12.2	No	0
MLH1-201	ENSP00000444286 ENST00000536378	B7Z821 Show all » « Hide B7Z821 [Target identity:100%; Query identity:100%] DNA mismatch repair protein Mlh1; cDNA FLJ55289, highly similar to DNA mismatch repair protein Mlh1 E7EUC9 [Target identity:22%; Query identity:100%] DNA mismatch repair protein Mlh1 C4PFY8 [Target identity:7%; Query identity:100%] MLH1 A8W2I7 [Target identity:5%; Query identity:100%] MutL-like 1 protein	Show » « Hide COSMIC Frameshift Mutations COSMIC Germline Mutations COSMIC Large Deletions COSMIC Missense Mutations COSMIC Nonsense Mutations COSMIC Somatic Mutations COSMIC Splicing Mutations Cancer-related genes COSMIC somatic mutations in cancer genes Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)	Show » « Hide GO:0000289 [nuclear-transcribed mRNA poly(A) tail shortening] GO:0000712 [resolution of meiotic recombination intermediates] GO:0000795 [synaptonemal complex] GO:0001673 [male germ cell nucleus] GO:0005524 [ATP binding] GO:0005712 [chiasma] GO:0006298 [mismatch repair] GO:0006303 [double-strand break repair via nonhomologous end joining] GO:0007060 [male meiosis chromosome segregation] GO:0007129 [synapsis] GO:0007283 [spermatogenesis] GO:0008630 [intrinsic apoptotic signaling pathway in response to DNA damage] GO:0016446 [somatic hypermutation of immunoglobulin genes] GO:0030983 [mismatched DNA binding] GO:0032137 [guanine/thymine mispair binding] GO:0032389 [MutLalpha complex] GO:0043060 [meiotic metaphase I plate congression] GO:0045190 [isotype switching] GO:0045950 [negative regulation of mitotic recombination] GO:0048477 [oogenesis] GO:0051257 [spindle midzone assembly involved in meiosis]	460	52	No	0
MLH1-202	ENSP00000443665 ENST00000539477	P40692 Show all » « Hide P40692 [Direct mapping] DNA mismatch repair protein Mlh1 B7Z821 [Target identity:89%; Query identity:100%] DNA mismatch repair protein Mlh1; cDNA FLJ55289, highly similar to DNA mismatch repair protein Mlh1 E7EUC9 [Target identity:20%; Query identity:100%] DNA mismatch repair protein Mlh1 C4PFY8 [Target identity:6%; Query identity:100%] MLH1 A8W2I7 [Target identity:4%; Query identity:100%] MutL-like 1 protein	Show » « Hide COSMIC Frameshift Mutations COSMIC Germline Mutations COSMIC Large Deletions COSMIC Missense Mutations COSMIC Nonsense Mutations COSMIC Somatic Mutations COSMIC Splicing Mutations Plasma proteins Cancer-related genes Candidate cancer biomarkers COSMIC somatic mutations in cancer genes Disease related genes Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)	Show » « Hide GO:0000289 [nuclear-transcribed mRNA poly(A) tail shortening] GO:0000712 [resolution of meiotic recombination intermediates] GO:0000795 [synaptonemal complex] GO:0001673 [male germ cell nucleus] GO:0003697 [single-stranded DNA binding] GO:0005515 [protein binding] GO:0005524 [ATP binding] GO:0005634 [nucleus] GO:0005712 [chiasma] GO:0006200 [ATP catabolic process] GO:0006298 [mismatch repair] GO:0006303 [double-strand break repair via nonhomologous end joining] GO:0007060 [male meiosis chromosome segregation] GO:0007129 [synapsis] GO:0007131 [reciprocal meiotic recombination] GO:0007283 [spermatogenesis] GO:0008630 [intrinsic apoptotic signaling pathway in response to DNA damage] GO:0016446 [somatic hypermutation of immunoglobulin genes] GO:0016887 [ATPase activity] GO:0030983 [mismatched DNA binding] GO:0032137 [guanine/thymine mispair binding] GO:0032300 [mismatch repair complex] GO:0032389 [MutLalpha complex] GO:0032390 [MutLbeta complex] GO:0032407 [MutSalpha complex binding] GO:0043060 [meiotic metaphase I plate congression] GO:0045190 [isotype switching] GO:0045950 [negative regulation of mitotic recombination] GO:0048477 [oogenesis] GO:0051257 [spindle midzone assembly involved in meiosis]	515	58.4	No	0

The Human Protein Atlas project is funded by the Knut & Alice Wallenberg foundation.