SpermatogenesisOnline 1.0
 

Tag Content
SG ID
SG00000485 
UniProt Accession
Theoretical PI
6.33  
Molecular Weight
163711 Da  
Genbank Nucleotide ID
Genbank Protein ID
Gene Name
MLH3 
Gene Synonyms/Alias
 
Protein Name
DNA mismatch repair protein Mlh3 
Protein Synonyms/Alias
MutL protein homolog 3; 
Organism
Homo sapiens (Human) 
NCBI Taxonomy ID
9606 
Chromosome Location
chr:14;75480467-75518235;-1
View in Ensembl genome browser  
Function in Stage
Function in Cell Type
Description
The MSH5 and MLH3 polymorphisms may be genetic determinants for human spermatogenesis impairment. 
The information of related literatures
1. K. Xu, T. Lu, H. Zhou, L. Bai and Y. Xiang (2010) The role of MSH5 C85T and MLH3 C2531T polymorphisms in the risk of male infertility with azoospermia or severe oligozoospermia. Clin Chim Acta 411(1-2): 49-52. 

Abstract
BACKGROUND PMID: [19808033] 

2. C. Ferras, X. L. Zhou, M. Sousa, A. Lindblom and A. Barros (2007) DNA mismatch repair gene hMLH3 variants in meiotic arrest. Fertil Steril 88(6): 1681-4. 

Abstract
Defects of the DNA mismatch repair gene hMLH3 were screened by denaturing high-performance liquid chromatography and sequencing in germinal tissue DNA from patients with spermatogenic arrest, with sequence variations being confirmed in genomic DNA by polymerase chain reaction (PCR) direct sequencing analysis. Four missense (2896T/C, 2531C/T) and eight intronic (IVS9+66G/A) variants were found, with the combination of 2531C/T and IVS9+66G/A being identified only in patients with primary meiotic arrest, thus suggesting that two simultaneous hMLH3 variants might predispose to spermatogenic arrest. PMID: [17482610] 

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Figures for illustrating the function of this protein/gene
Function
Probably involved in the repair of mismatches in DNA. 
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Subcellular Location
Nucleus (Potential). 
Tissue Specificity
Ubiquitous. 
Gene Ontology
GO IDGO termEvidence
GO:0005712 C:chiasma IBA:RefGenome.
GO:0001673 C:male germ cell nucleus IEA:Compara.
GO:0032390 C:MutLbeta complex IBA:RefGenome.
GO:0000795 C:synaptonemal complex IBA:RefGenome.
GO:0005524 F:ATP binding IEA:InterPro.
GO:0016887 F:ATPase activity IBA:RefGenome.
GO:0019237 F:centromeric DNA binding IEA:Compara.
GO:0003682 F:chromatin binding IEA:Compara.
GO:0030983 F:mismatched DNA binding IEA:InterPro.
GO:0003696 F:satellite DNA binding TAS:ProtInc.
GO:0003697 F:single-stranded DNA binding IBA:RefGenome.
GO:0007144 P:female meiosis I IEA:Compara.
GO:0007140 P:male meiosis IEA:Compara.
GO:0006298 P:mismatch repair NAS:UniProtKB.
GO:0008104 P:protein localization IEA:Compara.
GO:0007131 P:reciprocal meiotic recombination NAS:UniProtKB.
GO:0007130 P:synaptonemal complex assembly IEA:Compara.
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Interpro
IPR003594;    ATPase-like_ATP-bd.
IPR002099;    DNA_mismatch_repair.
IPR013507;    DNA_mismatch_repair_C.
IPR014762;    DNA_mismatch_repair_CS.
IPR014790;    MutL_C.
IPR020568;    Ribosomal_S5_D2-typ_fold.
IPR014721;    Ribosomal_S5_D2-typ_fold_subgr.
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Pfam
PF01119;    DNA_mis_repair;    1.
PF02518;    HATPase_c;    1.
PF08676;    MutL_C;    1.
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SMART
SM00387;    HATPase_c;    1.
SM00853;    MutL_C;    1.
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PROSITE
PS00058;    DNA_MISMATCH_REPAIR_1;    1.
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PRINTS
Created Date
18-Oct-2012 
Record Type
Experiment identified 
Protein sequence Annotation
CHAIN         1   1453       DNA mismatch repair protein Mlh3.
                             /FTId=PRO_0000178003.
MOD_RES     606    606       Phosphothreonine.
MOD_RES     610    610       Phosphothreonine.
VAR_SEQ    1215   1238       Missing (in isoform 2).
                             /FTId=VSP_003290.
VARIANT      24     24       Q -> E (in HNPCC7; dbSNP:rs28937870).
                             /FTId=VAR_012946.
VARIANT      93     93       R -> G (in dbSNP:rs28756978).
                             /FTId=VAR_023338.
VARIANT     120    120       F -> S (in dbSNP:rs28756979).
                             /FTId=VAR_023339.
VARIANT     231    231       K -> Q (in dbSNP:rs28756981).
                             /FTId=VAR_023340.
VARIANT     420    420       V -> I (in dbSNP:rs28756982).
                             /FTId=VAR_023341.
VARIANT     492    492       L -> V (in dbSNP:rs28756983).
                             /FTId=VAR_023342.
VARIANT     494    494       H -> R.
                             /FTId=VAR_010790.
VARIANT     499    499       N -> S (in HNPCC7; dbSNP:rs28937871).
                             /FTId=VAR_012947.
VARIANT     600    600       R -> Q (in dbSNP:rs28756984).
                             /FTId=VAR_023343.
VARIANT     606    606       T -> P (in dbSNP:rs28756985).
                             /FTId=VAR_023344.
VARIANT     624    624       E -> Q (in HNPCC7; dbSNP:rs28756986).
                             /FTId=VAR_012948.
VARIANT     647    647       R -> C (in HNPCC7; dbSNP:rs28756987).
                             /FTId=VAR_012949.
VARIANT     720    720       Y -> C (in dbSNP:rs28756988).
                             /FTId=VAR_023345.
VARIANT     723    723       V -> I (in dbSNP:rs28756989).
                             /FTId=VAR_023346.
VARIANT     741    741       V -> F (in dbSNP:rs28756990).
                             /FTId=VAR_023347.
VARIANT     797    797       R -> H (in dbSNP:rs28756991).
                             /FTId=VAR_023348.
VARIANT     817    817       S -> G (in HNPCC7).
                             /FTId=VAR_012950.
VARIANT     826    826       N -> D (in dbSNP:rs175081).
                             /FTId=VAR_036781.
VARIANT     844    844       P -> L (in dbSNP:rs175080).
                             /FTId=VAR_023349.
VARIANT     845    845       S -> G (in dbSNP:rs28756992).
                             /FTId=VAR_023350.
VARIANT     942    942       T -> I (in dbSNP:rs17102999).
                             /FTId=VAR_023351.
VARIANT     966    966       S -> P (in dbSNP:rs17782839).
                             /FTId=VAR_023352.
VARIANT     981    981       G -> S (in HNPCC7).
                             /FTId=VAR_012951.
VARIANT    1007   1007       N -> S (in HNPCC7).
                             /FTId=VAR_012952.
VARIANT    1073   1073       D -> N (in dbSNP:rs28756993).
                             /FTId=VAR_023353.
VARIANT    1105   1105       D -> E (in dbSNP:rs28757008).
                             /FTId=VAR_023354.
VARIANT    1163   1163       G -> D (in dbSNP:rs28757011).
                             /FTId=VAR_023355.
VARIANT    1319   1319       G -> R.
                             /FTId=VAR_023356.
VARIANT    1394   1394       A -> T (in HNPCC7).
                             /FTId=VAR_012953.
VARIANT    1451   1451       E -> K (in HNPCC7; dbSNP:rs28939071).
                             /FTId=VAR_012954.
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Nucleotide Sequence
Length: 4895 bp   Go to nucleotide: FASTA
Protein Sequence
Length: 1453 bp   Go to amino acid: FASTA
The verified Protein-Protein interaction information
Other Protein-Protein interaction resources
String database  
View Microarray data
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