MLH1 - Gene info - The Human Protein Atlas

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

Cytoband

p22.2

Chromosome location (bp)

36993332 - 37050918

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000076242 (version 78.38)

Entrez gene

4292

UniProt

P40692 (UniProt - Evidence at protein level)

Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

MLH1-001

ENSP00000231790
ENST00000231790

P40692
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P40692 [Direct mapping]
DNA mismatch repair protein Mlh1
Q5GJ64 [Target identity:99%; Query identity:100%]
Hypothetical rhabdomyosarcoma antigen MU-RMS-40.5 {ECO:0000313|EMBL:AAT44531.1}
A0A024R2S9 [Target identity:68%; Query identity:100%]
MutL homolog 1, colon cancer, nonpolyposis type 2 (E. coli), isoform CRA_a {ECO:0000313|EMBL:EAW64484.1}
B7Z821 [Target identity:60%; Query identity:100%]
DNA mismatch repair protein Mlh1 {ECO:0000313|Ensembl:ENSP00000444286}; cDNA FLJ55289, highly similar to DNA mismatch repair protein Mlh1 {ECO:0000313|EMBL:BAH13807.1}
E7EUC9 [Target identity:13%; Query identity:100%]
DNA mismatch repair protein Mlh1 {ECO:0000313|Ensembl:ENSP00000398392}
F2Z298 [Target identity:5%; Query identity:100%]
DNA mismatch repair protein Mlh1 {ECO:0000313|Ensembl:ENSP00000392649}
C4PFY8 [Target identity:4%; Query identity:100%]
MLH1 {ECO:0000313|EMBL:ACR33810.1}
A8W2I7 [Target identity:3%; Query identity:100%]
MutL-like 1 protein {ECO:0000313|EMBL:ABW69161.1}

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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)

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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 [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: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: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:0045190 [isotype switching]
GO:0045950 [negative regulation of mitotic recombination]
GO:0048477 [oogenesis]
GO:0051257 [spindle midzone assembly involved in meiosis]

756

84.6

MLH1-003

ENSP00000416687
ENST00000456676

E7EUC9
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E7EUC9 [Target identity:15%; Query identity:100%]
DNA mismatch repair protein Mlh1 {ECO:0000313|Ensembl:ENSP00000398392}
C4PFY8 [Target identity:5%; Query identity:100%]
MLH1 {ECO:0000313|EMBL:ACR33810.1}
A8W2I7 [Target identity:3%; Query identity:100%]
MutL-like 1 protein {ECO:0000313|EMBL:ABW69161.1}

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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 (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)

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GO:0005524 [ATP binding]
GO:0006298 [mismatch repair]
GO:0030983 [mismatched DNA binding]

679

75.7

MLH1-004

ENSP00000402667
ENST00000458205

P40692
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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 {ECO:0000313|EMBL:EAW64484.1}
B7Z821 [Target identity:89%; Query identity:100%]
DNA mismatch repair protein Mlh1 {ECO:0000313|Ensembl:ENSP00000444286}; cDNA FLJ55289, highly similar to DNA mismatch repair protein Mlh1 {ECO:0000313|EMBL:BAH13807.1}
E7EUC9 [Target identity:20%; Query identity:100%]
DNA mismatch repair protein Mlh1 {ECO:0000313|Ensembl:ENSP00000398392}
C4PFY8 [Target identity:6%; Query identity:100%]
MLH1 {ECO:0000313|EMBL:ACR33810.1}
A8W2I7 [Target identity:4%; Query identity:100%]
MutL-like 1 protein {ECO:0000313|EMBL:ABW69161.1}

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GO:0000795 [synaptonemal complex]
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: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]

515

58.4

MLH1-005

ENSP00000398272
ENST00000455445

P40692
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515

58.4

MLH1-006

ENSP00000402564
ENST00000435176

P40692
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P40692 [Direct mapping]
DNA mismatch repair protein Mlh1
A0A024R2S9 [Target identity:78%; Query identity:100%]
MutL homolog 1, colon cancer, nonpolyposis type 2 (E. coli), isoform CRA_a {ECO:0000313|EMBL:EAW64484.1}
B7Z821 [Target identity:69%; Query identity:100%]
DNA mismatch repair protein Mlh1 {ECO:0000313|Ensembl:ENSP00000444286}; cDNA FLJ55289, highly similar to DNA mismatch repair protein Mlh1 {ECO:0000313|EMBL:BAH13807.1}
E7EUC9 [Target identity:15%; Query identity:100%]
DNA mismatch repair protein Mlh1 {ECO:0000313|Ensembl:ENSP00000398392}
C9JZ54 [Target identity:12%; Query identity:100%]
DNA mismatch repair protein Mlh1 {ECO:0000313|Ensembl:ENSP00000407019}
C4PFY8 [Target identity:5%; Query identity:100%]
MLH1 {ECO:0000313|EMBL:ACR33810.1}
A8W2I7 [Target identity:3%; Query identity:100%]
MutL-like 1 protein {ECO:0000313|EMBL:ABW69161.1}

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   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)

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GO:0000795 [synaptonemal complex]
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:0016020 [membrane]
GO:0016446 [somatic hypermutation of immunoglobulin genes]
GO:0016887 [ATPase activity]
GO:0030983 [mismatched DNA binding]
GO:0032300 [mismatch repair complex]
GO:0032389 [MutLalpha complex]
GO:0032407 [MutSalpha complex binding]

658

73.8

MLH1-010

ENSP00000393006
ENST00000450420

H0Y4N0
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H0Y4N0 [Target identity:100%; Query identity:100%]
DNA mismatch repair protein Mlh1 {ECO:0000313|Ensembl:ENSP00000393006}

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7.1

MLH1-011

ENSP00000416476
ENST00000413740

H0Y806
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H0Y806 [Target identity:100%; Query identity:100%]
DNA mismatch repair protein Mlh1 {ECO:0000313|Ensembl:ENSP00000416476}
C4PFY8 [Target identity:29%; Query identity:100%]
MLH1 {ECO:0000313|EMBL:ACR33810.1}

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GO:0006298 [mismatch repair]
GO:0032300 [mismatch repair complex]

114

13.1

MLH1-016

ENSP00000407019
ENST00000429117

C9JZ54
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C9JZ54 [Target identity:100%; Query identity:100%]
DNA mismatch repair protein Mlh1 {ECO:0000313|Ensembl:ENSP00000407019}

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GO:0006298 [mismatch repair]
GO:0032300 [mismatch repair complex]

8.9

MLH1-020

ENSP00000398392
ENST00000441265

E7EUC9
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E7EUC9 [Target identity:100%; Query identity:100%]
DNA mismatch repair protein Mlh1 {ECO:0000313|Ensembl:ENSP00000398392}

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GO:0005524 [ATP binding]
GO:0006298 [mismatch repair]
GO:0030983 [mismatched DNA binding]

105

12.2

MLH1-021

ENSP00000480669
ENST00000616768

C4PFY8
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C4PFY8 [Target identity:15%; Query identity:100%]
MLH1 {ECO:0000313|EMBL:ACR33810.1}
A8W2I7 [Target identity:11%; Query identity:100%]
MutL-like 1 protein {ECO:0000313|EMBL:ABW69161.1}

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223

25.2

MLH1-201

ENSP00000444286
ENST00000536378

P40692
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515

58.4

MLH1-202

ENSP00000443665
ENST00000539477

P40692
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Show » « Hide

515

58.4

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