Cell atlas - MLH1 - The Human Protein Atlas

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MLH1

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TISSUE

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CELL

PATHOLOGY

CELL ATLAS RNA EXPRESSION HUMAN CELLS GFP MOUSE CELLS

GENE/PROTEIN

Antibody validation

Dictionary
	Nucleoplasm

Human cell
	Nucleoplasm

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GENERAL INFORMATION
Gene name	MLH1
Gene description	MutL homolog 1
Protein class	Cancer-related genes Disease related genes Plasma proteins Predicted intracellular proteins
Predicted localization	Intracellular
Number of transcripts	12
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HUMAN PROTEIN ATLAS INFORMATION
Summary	Localized to the nucleoplasm.
RNA cell category	Mixed
Protein evidence	Evidence at protein level
Main location	Localized to the Nucleoplasm (validated)
GFP	The location(s) are Validated based on analysis of GFP-tagged protein.
Mouse	Localized to the Nucleoplasm in mouse cells.

DATA RELIABILITY
Reliability score	Validated based on 2 antibodies. HPA052707 , HPA060714
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ASSAYS

RNA EXPRESSION OVERVIEW
RNA cell line category: Mixed Organ Origin Category Expression Alphabetical Cell lines sorted after organ of phenotypic resemblance. Cell lines sorted after biological source for establishment. Cell lines sorted after the cell line category according to Cellosaurus. Cell lines sorted on descending RNA expression. Cell lines sorted alphabetically.

HUMAN CELLS

Summary

Localized to the nucleoplasm.

Main location

Nucleoplasm (validated)


	Toggle channels	Low High G1 S G2 M N/A

Thumbnail	Antibody	Cell line	Location	Single-cell variation	Cell cycle dependent variation
	HPA052707	A-431	Nucleoplasm
	HPA052707	U-2 OS	Nucleoplasm
	HPA052707	U-251 MG	Nucleoplasm
	HPA060714	RH-30	Nucleoplasm
	HPA060714	U-2 OS	Nucleoplasm

GFP

Antibody	HPA052707
Validation	N-terminal tag BAC cell line: 5810 Validated: Antibody staining overlaps with GFP tagged protein

Antibody	HPA060714
Validation	N-terminal tag BAC cell line: 5810 Validated: Antibody staining overlaps with GFP tagged protein


	Toggle channels	Low High G1 S G2 M N/A

Thumbnail	Antibody	Cell line	BAC id	Tag	Location antibody staining	Location tagged protein
	HPA052707	HeLa	5810	N-terminal	Nucleoplasm	Nucleoplasm
	HPA052707	HeLa	Normal	-	Nucleoplasm	-
	HPA060714	HeLa	5810	N-terminal	Nucleoplasm	Nucleoplasm
	HPA060714	HeLa	Normal	-	Nucleoplasm	-

MOUSE CELLS

Main location

Nucleoplasm

Mouse gene

ENSMUSG00000032498 (version 83)


	Toggle channels	Low High G1 S G2 M N/A

Thumbnail	Antibody	Cell line	Location
	HPA052707	NIH 3T3	Nucleoplasm

GENE INFORMATION
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)	36993332 - 37050918
Protein evidence	Evidence at protein level (all genes)
Ensembl	ENSG00000076242 (version 83.38)
Entrez gene	4292
UniProt	P40692 (UniProt - Evidence at protein level)
neXtProt	NX_P40692
Antibodypedia	MLH1 antibodies

PROTEIN BROWSER

MLH1-001	MLH1-003	MLH1-004	MLH1-005	MLH1-006	MLH1-010	MLH1-011	MLH1-016	MLH1-020	MLH1-021	MLH1-201	MLH1-202

PROTEIN INFORMATION
Splice variant	UniProt	Protein class	Gene ontology	Length & mass	Signal peptide (predicted)	Transmembrane regions (predicted)
MLH1-001 ENSP00000231790 ENST00000231790	P40692 [Direct mapping] DNA mismatch repair protein Mlh1 Show all	Predicted intracellular proteins Plasma proteins Cancer-related genes Candidate cancer biomarkers COSMIC somatic mutations in cancer genes COSMIC Splicing Mutations COSMIC Somatic Mutations COSMIC Nonsense Mutations COSMIC Missense Mutations COSMIC Large Deletions COSMIC Germline Mutations COSMIC Frameshift Mutations Disease related genes Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014) Show all	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:0005654 [nucleoplasm] GO:0005694 [chromosome] GO:0005712 [chiasma] GO:0006281 [DNA repair] GO:0006298 [mismatch repair] GO:0006303 [double-strand break repair via nonhomologous end joining] GO:0006974 [cellular 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:0016020 [membrane] GO:0016321 [female meiosis chromosome segregation] 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:0032389 [MutLalpha 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:0045141 [meiotic telomere clustering] GO:0045143 [homologous chromosome segregation] GO:0045190 [isotype switching] GO:0045950 [negative regulation of mitotic recombination] GO:0048477 [oogenesis] GO:0051257 [meiotic spindle midzone assembly] Show all	756 aa 84.6 kDa	No	0
MLH1-003 ENSP00000416687 ENST00000456676	H0Y818 [Direct mapping] DNA mismatch repair protein Mlh1 Show all	Predicted intracellular proteins Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Splicing Mutations COSMIC Somatic Mutations COSMIC Nonsense Mutations COSMIC Missense Mutations COSMIC Large Deletions COSMIC Germline Mutations COSMIC Frameshift Mutations Protein evidence (Ezkurdia et al 2014) Show all	GO:0000795 [synaptonemal complex] GO:0005524 [ATP binding] GO:0005712 [chiasma] GO:0006298 [mismatch repair] GO:0016446 [somatic hypermutation of immunoglobulin genes] GO:0016887 [ATPase activity] GO:0030983 [mismatched DNA binding] GO:0032389 [MutLalpha complex] Show all	679 aa 75.7 kDa	No	0
MLH1-004 ENSP00000402667 ENST00000458205	P40692 [Direct mapping] DNA mismatch repair protein Mlh1 A0A024R2S9 [Target identity:100%; Query identity:100%] MutL homolog 1, colon cancer, nonpolyposis type 2 (E. coli), isoform CRA_a Show all	Predicted intracellular proteins Plasma proteins Cancer-related genes Candidate cancer biomarkers COSMIC somatic mutations in cancer genes COSMIC Splicing Mutations COSMIC Somatic Mutations COSMIC Nonsense Mutations COSMIC Missense Mutations COSMIC Large Deletions COSMIC Germline Mutations COSMIC Frameshift Mutations Disease related genes Protein evidence (Ezkurdia et al 2014) Show all	GO:0000795 [synaptonemal complex] GO:0003697 [single-stranded DNA binding] GO:0005515 [protein binding] GO:0005524 [ATP binding] GO:0005634 [nucleus] GO:0005654 [nucleoplasm] GO:0005712 [chiasma] GO:0006281 [DNA repair] GO:0006298 [mismatch repair] GO:0016020 [membrane] GO:0016446 [somatic hypermutation of immunoglobulin genes] GO:0016887 [ATPase activity] GO:0030983 [mismatched DNA binding] GO:0032389 [MutLalpha complex] GO:0032407 [MutSalpha complex binding] Show all	515 aa 58.4 kDa	No	0
MLH1-005 ENSP00000398272 ENST00000455445	P40692 [Direct mapping] DNA mismatch repair protein Mlh1 A0A024R2S9 [Target identity:100%; Query identity:100%] MutL homolog 1, colon cancer, nonpolyposis type 2 (E. coli), isoform CRA_a Show all	Predicted intracellular proteins Plasma proteins Cancer-related genes Candidate cancer biomarkers COSMIC somatic mutations in cancer genes COSMIC Splicing Mutations COSMIC Somatic Mutations COSMIC Nonsense Mutations COSMIC Missense Mutations COSMIC Large Deletions COSMIC Germline Mutations COSMIC Frameshift Mutations Disease related genes Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014) Show all	GO:0000795 [synaptonemal complex] GO:0003697 [single-stranded DNA binding] GO:0005515 [protein binding] GO:0005524 [ATP binding] GO:0005634 [nucleus] GO:0005654 [nucleoplasm] GO:0005712 [chiasma] GO:0006281 [DNA repair] GO:0006298 [mismatch repair] GO:0016020 [membrane] GO:0016446 [somatic hypermutation of immunoglobulin genes] GO:0016887 [ATPase activity] GO:0030983 [mismatched DNA binding] GO:0032389 [MutLalpha complex] GO:0032407 [MutSalpha complex binding] Show all	515 aa 58.4 kDa	No	0
MLH1-006 ENSP00000402564 ENST00000435176	P40692 [Direct mapping] DNA mismatch repair protein Mlh1 Show all	SPOCTOPUS predicted secreted proteins Predicted intracellular proteins Plasma proteins Cancer-related genes Candidate cancer biomarkers COSMIC somatic mutations in cancer genes COSMIC Splicing Mutations COSMIC Somatic Mutations COSMIC Nonsense Mutations COSMIC Missense Mutations COSMIC Large Deletions COSMIC Germline Mutations COSMIC Frameshift Mutations Disease related genes Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014) Show all	GO:0000795 [synaptonemal complex] GO:0003697 [single-stranded DNA binding] GO:0005515 [protein binding] GO:0005524 [ATP binding] GO:0005634 [nucleus] GO:0005654 [nucleoplasm] GO:0005712 [chiasma] GO:0006281 [DNA repair] GO:0006298 [mismatch repair] GO:0016020 [membrane] GO:0016446 [somatic hypermutation of immunoglobulin genes] GO:0016887 [ATPase activity] GO:0030983 [mismatched DNA binding] GO:0032389 [MutLalpha complex] GO:0032407 [MutSalpha complex binding] Show all	658 aa 73.8 kDa	No	0
MLH1-010 ENSP00000393006 ENST00000450420	H0Y4N0 [Direct mapping] DNA mismatch repair protein Mlh1 Show all	Predicted intracellular proteins Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Splicing Mutations COSMIC Somatic Mutations COSMIC Nonsense Mutations COSMIC Missense Mutations COSMIC Large Deletions COSMIC Germline Mutations COSMIC Frameshift Mutations Protein evidence (Ezkurdia et al 2014) Show all	GO:0000795 [synaptonemal complex] GO:0005712 [chiasma] GO:0016446 [somatic hypermutation of immunoglobulin genes] GO:0016887 [ATPase activity] GO:0032389 [MutLalpha complex] Show all	61 aa 7.1 kDa	No	0
MLH1-011 ENSP00000416476 ENST00000413740	H0Y806 [Direct mapping] DNA mismatch repair protein Mlh1 Show all	Predicted intracellular proteins Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Splicing Mutations COSMIC Somatic Mutations COSMIC Nonsense Mutations COSMIC Missense Mutations COSMIC Large Deletions COSMIC Germline Mutations COSMIC Frameshift Mutations Protein evidence (Ezkurdia et al 2014) Show all	GO:0000795 [synaptonemal complex] GO:0005712 [chiasma] GO:0016446 [somatic hypermutation of immunoglobulin genes] GO:0016887 [ATPase activity] GO:0032389 [MutLalpha complex] Show all	114 aa 13.1 kDa	No	0
MLH1-016 ENSP00000407019 ENST00000429117	C9JZ54 [Direct mapping] DNA mismatch repair protein Mlh1 Show all	Predicted intracellular proteins Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Splicing Mutations COSMIC Somatic Mutations COSMIC Nonsense Mutations COSMIC Missense Mutations COSMIC Large Deletions COSMIC Germline Mutations COSMIC Frameshift Mutations Protein evidence (Ezkurdia et al 2014) Show all	GO:0000795 [synaptonemal complex] GO:0005712 [chiasma] GO:0016446 [somatic hypermutation of immunoglobulin genes] GO:0016887 [ATPase activity] GO:0032389 [MutLalpha complex] Show all	83 aa 8.9 kDa	No	0
MLH1-020 ENSP00000398392 ENST00000441265	E7EUC9 [Direct mapping] DNA mismatch repair protein Mlh1 Show all	Predicted intracellular proteins Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Splicing Mutations COSMIC Somatic Mutations COSMIC Nonsense Mutations COSMIC Missense Mutations COSMIC Large Deletions COSMIC Germline Mutations COSMIC Frameshift Mutations Protein evidence (Ezkurdia et al 2014) Show all	GO:0000795 [synaptonemal complex] GO:0005524 [ATP binding] GO:0005712 [chiasma] GO:0006298 [mismatch repair] GO:0016446 [somatic hypermutation of immunoglobulin genes] GO:0016887 [ATPase activity] GO:0030983 [mismatched DNA binding] GO:0032389 [MutLalpha complex] Show all	105 aa 12.2 kDa	No	0
MLH1-021 ENSP00000480669 ENST00000616768	A0A087WX20 [Direct mapping] DNA mismatch repair protein Mlh1 Show all	Predicted intracellular proteins Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Splicing Mutations COSMIC Somatic Mutations COSMIC Nonsense Mutations COSMIC Missense Mutations COSMIC Large Deletions COSMIC Germline Mutations COSMIC Frameshift Mutations Protein evidence (Ezkurdia et al 2014) Show all	GO:0000795 [synaptonemal complex] GO:0005712 [chiasma] GO:0016446 [somatic hypermutation of immunoglobulin genes] GO:0016887 [ATPase activity] GO:0032389 [MutLalpha complex] Show all	223 aa 25.2 kDa	No	0
MLH1-201 ENSP00000444286 ENST00000536378	P40692 [Direct mapping] DNA mismatch repair protein Mlh1 A0A024R2S9 [Target identity:100%; Query identity:100%] MutL homolog 1, colon cancer, nonpolyposis type 2 (E. coli), isoform CRA_a Show all	Predicted intracellular proteins Plasma proteins Cancer-related genes Candidate cancer biomarkers COSMIC somatic mutations in cancer genes COSMIC Splicing Mutations COSMIC Somatic Mutations COSMIC Nonsense Mutations COSMIC Missense Mutations COSMIC Large Deletions COSMIC Germline Mutations COSMIC Frameshift Mutations Disease related genes Protein evidence (Ezkurdia et al 2014) Show all	GO:0000795 [synaptonemal complex] GO:0003697 [single-stranded DNA binding] GO:0005515 [protein binding] GO:0005524 [ATP binding] GO:0005634 [nucleus] GO:0005654 [nucleoplasm] GO:0005712 [chiasma] GO:0006281 [DNA repair] GO:0006298 [mismatch repair] GO:0016020 [membrane] GO:0016446 [somatic hypermutation of immunoglobulin genes] GO:0016887 [ATPase activity] GO:0030983 [mismatched DNA binding] GO:0032389 [MutLalpha complex] GO:0032407 [MutSalpha complex binding] Show all	515 aa 58.4 kDa	No	0
MLH1-202 ENSP00000443665 ENST00000539477	P40692 [Direct mapping] DNA mismatch repair protein Mlh1 A0A024R2S9 [Target identity:100%; Query identity:100%] MutL homolog 1, colon cancer, nonpolyposis type 2 (E. coli), isoform CRA_a Show all	Predicted intracellular proteins Plasma proteins Cancer-related genes Candidate cancer biomarkers COSMIC somatic mutations in cancer genes COSMIC Splicing Mutations COSMIC Somatic Mutations COSMIC Nonsense Mutations COSMIC Missense Mutations COSMIC Large Deletions COSMIC Germline Mutations COSMIC Frameshift Mutations Disease related genes Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014) Show all	GO:0000795 [synaptonemal complex] GO:0003697 [single-stranded DNA binding] GO:0005515 [protein binding] GO:0005524 [ATP binding] GO:0005634 [nucleus] GO:0005654 [nucleoplasm] GO:0005712 [chiasma] GO:0006281 [DNA repair] GO:0006298 [mismatch repair] GO:0016020 [membrane] GO:0016446 [somatic hypermutation of immunoglobulin genes] GO:0016887 [ATPase activity] GO:0030983 [mismatched DNA binding] GO:0032389 [MutLalpha complex] GO:0032407 [MutSalpha complex binding] Show all	515 aa 58.4 kDa	No	0

Contact

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The Project

The Human Protein Atlas

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