• Gene id: 27030

Gene Summary

• Gene Symbol: MLH3   Gene   UCSC   Ensembl
• Aliases: HNPCC7
• Gene name: mutL homolog 3
• Alternate names: DNA mismatch repair protein Mlh3,
• Gene location: 14q24.3 (75051531: 75013763)     Exons: 13     NC_000014.9
• Gene summary(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 he
• OMIM: 604395

SNPs

rs7156586

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000014.9   g.75039527A>T
NC_000014.8   g.75506230A>T
NG_008649.1   g.17006T>A|SEQ=[A/T]|GENE=MLH3

rs175080

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000014.9   g.75047125G>A
NC_000014.8   g.75513828G>A
NG_008649.1   g.9408C>T
NM_014381.3   c.2531C>T
NM_014381.2   c.2531C>T
NM_001040108.2   c.2531C>T
NM_001040108.1   c.2531C>T
XM_005267532.5   c.2531C>T
XM_005267532.1   c.2531C>T
XM_005267533.5   c.2531C>T
XM_0052  

Protein Summary

• Protein general information: Q9UHC1  
  • Name: DNA mismatch repair protein Mlh3 (MutL protein homolog 3)
  • Length: 1453  
  • Mass: 163,711
• Sequence:

  MIKCLSVEVQAKLRSGLAISSLGQCVEELALNSIDAEAKCVAVRVNMETFQVQVIDNGFGMGSDDVEKVGNRYFT
  SKCHSVQDLENPRFYGFRGEALANIADMASAVEISSKKNRTMKTFVKLFQSGKALKACEADVTRASAGTTVTVYN
  LFYQLPVRRKCMDPRLEFEKVRQRIEALSLMHPSISFSLRNDVSGSMVLQLPKTKDVCSRFCQIYGLGKSQKLRE
  ISFKYKEFELSGYISSEAHYNKNMQFLFVNKRLVLRTKLHKLIDFLLRKESIICKPKNGPTSRQMNSSLRHRSTP
  ELYGIYVINVQCQFCEYDVCMEPAKTLIEFQNWDTLLFCIQEGVKMFLKQEKLFVELSGEDIKEFSEDNGFSLFD
  ATLQKRVTSDERSNFQEACNNILDSYEMFNLQSKAVKRKTTAENVNTQSSRDSEATRKNTNDAFLYIYESGGPGH
  SKMTEPSLQNKDSSCSESKMLEQETIVASEAGENEKHKKSFLEHSSLENPCGTSLEMFLSPFQTPCHFEESGQDL
  EIWKESTTVNGMAANILKNNRIQNQPKRFKDATEVGCQPLPFATTLWGVHSAQTEKEKKKESSNCGRRNVFSYGR
  VKLCSTGFITHVVQNEKTKSTETEHSFKNYVRPGPTRAQETFGNRTRHSVETPDIKDLASTLSKESGQLPNKKNC
  RTNISYGLENEPTATYTMFSAFQEGSKKSQTDCILSDTSPSFPWYRHVSNDSRKTDKLIGFSKPIVRKKLSLSSQ
  LGSLEKFKRQYGKVENPLDTEVEESNGVTTNLSLQVEPDILLKDKNRLENSDVCKITTMEHSDSDSSCQPASHIL
  NSEKFPFSKDEDCLEQQMPSLRESPMTLKELSLFNRKPLDLEKSSESLASKLSRLKGSERETQTMGMMSRFNELP
  NSDSSRKDSKLCSVLTQDFCMLFNNKHEKTENGVIPTSDSATQDNSFNKNSKTHSNSNTTENCVISETPLVLPYN
  NSKVTGKDSDVLIRASEQQIGSLDSPSGMLMNPVEDATGDQNGICFQSEESKARACSETEESNTCCSDWQRHFDV
  ALGRMVYVNKMTGLSTFIAPTEDIQAACTKDLTTVAVDVVLENGSQYRCQPFRSDLVLPFLPRARAERTVMRQDN
  RDTVDDTVSSESLQSLFSEWDNPVFARYPEVAVDVSSGQAESLAVKIHNILYPYRFTKGMIHSMQVLQQVDNKFI
  ACLMSTKTEENGEAGGNLLVLVDQHAAHERIRLEQLIIDSYEKQQAQGSGRKKLLSSTLIPPLEITVTEEQRRLL
  WCYHKNLEDLGLEFVFPDTSDSLVLVGKVPLCFVEREANELRRGRSTVTKSIVEEFIREQLELLQTTGGIQGTLP
  LTVQKVLASQACHGAIKFNDGLSLQESCRLIEALSSCQLPFQCAHGRPSMLPLADIDHLEQEKQIKPNLTKLRKM
  AQAWRLFGKAECDTRQSLQQSMPPCEPP

• Structural information:
  • Interpro: IPR013507  IPR014762  IPR003594  IPR036890  IPR028830   IPR014790  IPR037198  IPR020568  IPR014721  
  • Prosite: PS00058
  • CDD: cd00075
  • STRING: ENSP00000348020
• Other Databases: GeneCards:  MLH3  Malacards:  MLH3

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000795	synaptonemal complex	IBA	cellular component
GO:0001673	male germ cell nucleus	IEA	cellular component
GO:0003682	chromatin binding	IEA	molecular function
GO:0003696	satellite DNA binding	TAS	molecular function
GO:0003697	single-stranded DNA binding	IBA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0005634	nucleus	IDA	cellular component
GO:0005712	chiasma	IBA	cellular component
GO:0006298	mismatch repair	NAS	biological process
GO:0007130	synaptonemal complex assembly	IEA	biological process
GO:0007131	reciprocal meiotic recombination	NAS	biological process
GO:0007140	male meiosis	IEA	biological process
GO:0007144	female meiosis I	IEA	biological process
GO:0008104	protein localization	IEA	biological process
GO:0016887	ATPase activity	IBA	molecular function
GO:0019237	centromeric DNA binding	IEA	molecular function
GO:0030983	mismatched DNA binding	IEA	molecular function
GO:0032300	mismatch repair complex	IBA	cellular component
GO:0000793	condensed chromosome	IEA	cellular component
GO:0000794	condensed nuclear chromosome	IEA	cellular component
GO:0000795	synaptonemal complex	IEA	cellular component
GO:0000795	synaptonemal complex	IBA	cellular component
GO:0001673	male germ cell nucleus	IEA	cellular component
GO:0003682	chromatin binding	IEA	molecular function
GO:0003696	satellite DNA binding	TAS	molecular function
GO:0003697	single-stranded DNA binding	IBA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0005634	nucleus	TAS	cellular component
GO:0005712	chiasma	IEA	cellular component
GO:0005712	chiasma	IBA	cellular component
GO:0006281	DNA repair	IEA	biological process
GO:0006298	mismatch repair	IEA	biological process
GO:0006298	mismatch repair	IEA	biological process
GO:0006298	mismatch repair	TAS	biological process
GO:0006298	mismatch repair	NAS	biological process
GO:0006974	cellular response to DNA damage stimulus	IEA	biological process
GO:0006974	cellular response to DNA damage stimulus	IEA	biological process
GO:0007130	synaptonemal complex assembly	IEA	biological process
GO:0007131	reciprocal meiotic recombination	IEA	biological process
GO:0007131	reciprocal meiotic recombination	NAS	biological process
GO:0007140	male meiosis	IEA	biological process
GO:0007144	female meiosis I	IEA	biological process
GO:0008104	protein localization	IEA	biological process
GO:0016887	ATPase activity	IBA	molecular function
GO:0019237	centromeric DNA binding	IEA	molecular function
GO:0030983	mismatched DNA binding	IEA	molecular function
GO:0032300	mismatch repair complex	IEA	cellular component
GO:0032300	mismatch repair complex	IEA	cellular component
GO:0032300	mismatch repair complex	IBA	cellular component
GO:0000795	synaptonemal complex	IBA	cellular component
GO:0003696	satellite DNA binding	TAS	molecular function
GO:0003697	single-stranded DNA binding	IBA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005634	nucleus	IDA	cellular component
GO:0005634	nucleus	TAS	cellular component
GO:0005712	chiasma	IBA	cellular component
GO:0006298	mismatch repair	TAS	biological process
GO:0006298	mismatch repair	NAS	biological process
GO:0007131	reciprocal meiotic recombination	NAS	biological process
GO:0016887	ATPase activity	IBA	molecular function
GO:0032300	mismatch repair complex	IBA	cellular component

Diseases

Associated diseases	References
Cancer (epithelial ovarian)	GAD: 19064572
Cancer (lung)	GAD: 19789190
Cancer (bladder)	GAD: 19237606
Cancer (colorectal)	GAD: 12800209
Cancer (head and neck)	GAD: 17494052
Cancer (ovarian)	GAD: 16774946
Cancer (breast)	GAD: 20496165
Mammalian microsatellite instability	GAD: 10615123
Unexplained infertility	INFBASE: 24639688
Sperm DNA damage	MIK: 22594646
Maturation arrest	MIK: 22344730
Spermatogenesis defects	MIK: 17482610
Impaired human spermatogenesis	MIK: 20075417
Azoospermia	MIK: 26086992
Oligozoospermia	MIK: 26520453
Mismatch repair deficiency	KEGG: H00876
Chronic renal failure	GAD: 21085059
Impaired human spermatogenesis	MIK: 20075417
Male infertility	MIK: 19808033
Azoospermia	MIK: 26086992
Oligozoospermia	MIK: 26520453
Maturation arrest	MIK: 22344730
Sperm DNA damage	MIK: 22594646
Spermatogenic arrest	MIK: 17482610

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
22594646	Sperm DNA damage, Male infertility, azoospermia, oligozoospermia	MLH1 (rs4647269), PMS2 (rs1059060, Ser775Asn), MSH5 (rs2075789, Pro29Ser)	Chinese	1772 (1,292 idiopathic infertility patients, 480 fertile controls)	Male infertility	MLH1 MLH3 PMS2 MSH4 and MSH5
20075417	Impaired human spermatogenesis			28 (13 patients with spermatogenic failure, 5 patients with primary germ cell tumors, 10 controls with conserved spermatogenesis)	Male infertility	MLH1 MLH3 PMS2 MSH4 and MSH5 ATR HSPA2 and SYCP3
26086992	Male infertility, Azoospermia, oligozoospermia	rs6525433, rs175080, rs6525433-rs4844247, and rs1800734-rs175080	China	614 (316 patients (244 men with azoospermia, 72 men with oligozoospermia), 298 controls)	Male infertility	TEX11 TEX15  MLH1 and MLH3
26520453	Male infertility, oligozoospermia	rs 175080	Greek	300 (122 were from men used as "controls" and 178 from men used as "cases.)	Male infertility
22344730	Maturation arrest	2531C/T-IVS9 + 66G/A			Male infertility	MLH1 MLH3 PMS2
19808033	Male infertility with azoospermia, severe oligozoospermia	MSH5 (C85T), MLH3 (C2531T)	Chinese	322 (162 infertile individuals with idiopathic azoospermia or severe oligozoospermia, 160 fertile men as controls)	Male infertility	MSH5 MLH3
17482610	Spermatogenic arrest	MLH3 (2896T/C, 2531C/T, IVS9+66G/A, 2531C/T and IVS9+66G/A)			Male infertility	MLH3
26520453	Oligozoospermia, Male infertility		Caucasi an	300 (122 controls, 178 infertile males)	Male infertility