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MLH3
HPA
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  • MLH3
PROTEIN SUMMARY GENE INFORMATION RNA DATA ANTIBODY DATA
GENERAL INFORMATIONi

General description of the gene and the encoded protein(s) using information from HGNC and Ensembl, as well as predictions made by the Human Protein Atlas project.

Gene namei

Official gene symbol, which is typically a short form of the gene name, according to HGNC.

MLH3
Synonyms
Gene descriptioni

Full gene name according to HGNC.

MutL homolog 3
Protein classi

Assigned HPA protein class(es) for the encoded protein(s).

Disease related genes
Human disease related genes
Plasma proteins
Predicted locationi

All transcripts of all genes have been analyzed regarding the location(s) of corresponding protein based on prediction methods for signal peptides and transmembrane regions.

  • Genes with at least one transcript predicted to encode a secreted protein, according to prediction methods or to UniProt location data, have been further annotated and classified with the aim to determine if the corresponding protein(s) are secreted or actually retained in intracellular locations or membrane-attached.

  • Remaining genes, with no transcript predicted to encode a secreted protein, will be assigned the prediction-based location(s).

The annotated location overrules the predicted location, so that a gene encoding a predicted secreted protein that has been annotated as intracellular will have intracellular as the final location.

Intracellular
Protein evidence Evidence at protein level (all genes)
GENE INFORMATIONi

Gene information from Ensembl and Entrez, as well as links to available gene identifiers are displayed here. Information was retrieved from Ensembl if not indicated otherwise.

Chromosome 14
Cytoband q24.3
Chromosome location (bp) 75013769 - 75051532
Number of transcriptsi

Number of protein-coding transcripts from the gene as defined by Ensembl.

6
Ensembl ENSG00000119684 (version 109)
Entrez gene 27030
HGNC HGNC:7128
UniProt Q9UHC1 (UniProt - Evidence at protein level)
neXtProt NX_Q9UHC1
GeneCards MLH3
Antibodypedia MLH3 antibodies


PROTEIN FUNCTION
Protein function (UniProt)i

Useful information about the protein provided by UniProt.

Probably involved in the repair of mismatches in DNA.... show less
Biological process (UniProt)i

Keywords assigned by UniProt to proteins because they are involved in a particular biological process.

DNA damage, DNA repair
Gene summary (Entrez)i

Useful information about the gene from Entrez

This gene is a member of the MutL-homolog (MLH) family of DNA mismatch repair (MMR) genes. MLH genes are implicated in maintaining genomic integrity during DNA replication and after meiotic recombination. The protein encoded by this gene functions as a heterodimer with other family members. Somatic mutations in this gene frequently occur in tumors exhibiting microsatellite instability, and germline mutations have been linked to hereditary nonpolyposis colorectal cancer type 7 (HNPCC7). Several alternatively spliced transcript variants have been identified, but the full-length nature of only two transcript variants has been determined. [provided by RefSeq, Jul 2008]... show less
PROTEIN INFORMATIONi

The protein information section displays alternative protein-coding transcripts (splice variants) encoded by this gene according to the Ensembl database.

The Splice variant identifier links to the Ensembl website protein summary for the selected splice variant. The data in the Swissprot and TrEMBL columns links to corresponding pages in the UniProt database.

The protein classes assigned to this protein are shown if expanding the data in the protein class column. Parent protein classes are in bold font and subclasses are listed under the parent class.

The length of the protein (amino acid residues according to Ensembl), molecular mass (kDalton), predicted signal peptide and number of predicted transmembrane region(s) according to in-house majority decision methods based on sets of predictors are also reported.
Splice variant SwissProt TrEMBL Protein class Gene ontology Length & mass Signal peptide
(predicted)
Transmembrane regions
(predicted)
MLH3-201
ENSP00000348020
ENST00000355774
Q9UHC1
[Direct mapping] DNA mismatch repair protein Mlh3
Show all
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Plasma proteins
Disease related genes
Human disease related genes
   Cancers
   Cancers of the digestive system
   Other diseases
   Others
Mapped to neXtProt
   neXtProt - Evidence at protein level
Protein evidence (Kim et al 2014)
Show all
GO:0000793 [condensed chromosome]
GO:0000794 [condensed nuclear chromosome]
GO:0000795 [synaptonemal complex]
GO:0001673 [male germ cell nucleus]
GO:0003682 [chromatin binding]
GO:0003696 [satellite 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:0006974 [cellular response to DNA damage stimulus]
GO:0007130 [synaptonemal complex assembly]
GO:0007131 [reciprocal meiotic recombination]
GO:0007140 [male meiotic nuclear division]
GO:0007144 [female meiosis I]
GO:0008104 [protein localization]
GO:0016887 [ATP hydrolysis activity]
GO:0019237 [centromeric DNA binding]
GO:0030983 [mismatched DNA binding]
GO:0032300 [mismatch repair complex]
GO:0140664 [ATP-dependent DNA damage sensor activity]
Show all
1453 aa
163.7 kDa
No 0
MLH3-202
ENSP00000370355
ENST00000380968
Q9UHC1
[Direct mapping] DNA mismatch repair protein Mlh3
Show all
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Plasma proteins
Disease related genes
Human disease related genes
   Cancers
   Cancers of the digestive system
   Other diseases
   Others
Mapped to neXtProt
   neXtProt - Evidence at protein level
Protein evidence (Kim et al 2014)
Show all
GO:0003696 [satellite DNA binding]
GO:0005515 [protein binding]
GO:0005524 [ATP binding]
GO:0005634 [nucleus]
GO:0005654 [nucleoplasm]
GO:0006281 [DNA repair]
GO:0006298 [mismatch repair]
GO:0006974 [cellular response to DNA damage stimulus]
GO:0007131 [reciprocal meiotic recombination]
GO:0016887 [ATP hydrolysis activity]
GO:0030983 [mismatched DNA binding]
GO:0032300 [mismatch repair complex]
GO:0140664 [ATP-dependent DNA damage sensor activity]
Show all
1429 aa
161 kDa
No 0
MLH3-203
ENSP00000451192
ENST00000553263
G3V3E0
[Direct mapping] DNA mismatch repair protein Mlh3
Show all
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Human disease related genes
   Cancers
   Cancers of the digestive system
   Other diseases
   Others
Show all
GO:0006298 [mismatch repair]
GO:0016887 [ATP hydrolysis activity]
GO:0032300 [mismatch repair complex]
GO:0140664 [ATP-dependent DNA damage sensor activity]
Show all
162 aa
17.8 kDa
No 0
MLH3-204
ENSP00000451130
ENST00000553713
H0YJB4
[Direct mapping] DNA mismatch repair protein Mlh3
Show all
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Human disease related genes
   Cancers
   Cancers of the digestive system
   Other diseases
   Others
Show all
GO:0005524 [ATP binding]
GO:0005654 [nucleoplasm]
GO:0006298 [mismatch repair]
GO:0016887 [ATP hydrolysis activity]
GO:0032300 [mismatch repair complex]
GO:0140664 [ATP-dependent DNA damage sensor activity]
Show all
477 aa
52.9 kDa
No 0
MLH3-210
ENSP00000451540
ENST00000556257
G3V419
[Direct mapping] DNA mismatch repair protein Mlh3
Show all
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Human disease related genes
   Cancers
   Cancers of the digestive system
   Other diseases
   Others
Show all
GO:0005524 [ATP binding]
GO:0005634 [nucleus]
GO:0005654 [nucleoplasm]
GO:0006298 [mismatch repair]
GO:0006974 [cellular response to DNA damage stimulus]
GO:0016887 [ATP hydrolysis activity]
GO:0030983 [mismatched DNA binding]
GO:0032300 [mismatch repair complex]
GO:0140664 [ATP-dependent DNA damage sensor activity]
Show all
1275 aa
143.5 kDa
No 0
MLH3-212
ENSP00000451095
ENST00000557648
G3V384
[Direct mapping] DNA mismatch repair protein Mlh3
Show all
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Human disease related genes
   Cancers
   Cancers of the digestive system
   Other diseases
   Others
Show all
GO:0006298 [mismatch repair]
GO:0016887 [ATP hydrolysis activity]
GO:0032300 [mismatch repair complex]
GO:0140664 [ATP-dependent DNA damage sensor activity]
Show all
106 aa
11.5 kDa
No 0

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