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MLH1

CANCER ATLAS

Gene description

 MutL homolog 1

Protein class

 Cancer-related genes, Disease related genes, Plasma proteins, Predicted intracellular proteins

Protein evidence

 Evidence at protein level
Colorectal cancer
Breast cancer
Prostate cancer
Lung cancer
Liver cancer

STAINING SUMMARY
HPA052707
CAB013294
CAB070868

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

The Project

The Human Protein Atlas

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