Q9UHC1 (MLH3_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
DNA mismatch repair protein Mlh3

Alternative name(s):
MutL protein homolog 3

Gene names

Name:

MLH3

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	1453 AA.
Sequence status	Complete.
Protein existence	Evidence at protein level

General annotation (Comments)

Function	Probably involved in the repair of mismatches in DNA.
Subunit structure	Heterodimer of MLH1 and MLH3. Interacts with MTMR15/FAN1. Ref.2 Ref.7
Subcellular location	Nucleus Potential.
Tissue specificity	Ubiquitous.
Involvement in disease	Hereditary non-polyposis colorectal cancer 7 (HNPCC7) [MIM:614385]: An autosomal dominant disease associated with marked increase in cancer susceptibility. It is characterized by a familial predisposition to early-onset colorectal carcinoma (CRC) and extra-colonic tumors of the gastrointestinal, urological and female reproductive tracts. HNPCC is reported to be the most common form of inherited colorectal cancer in the Western world. Clinically, HNPCC is often divided into two subgroups. Type I is characterized by hereditary predisposition to colorectal cancer, a young age of onset, and carcinoma observed in the proximal colon. Type II is characterized by increased risk for cancers in certain tissues such as the uterus, ovary, breast, stomach, small intestine, skin, and larynx in addition to the colon. Diagnosis of classical HNPCC is based on the Amsterdam criteria: 3 or more relatives affected by colorectal cancer, one a first degree relative of the other two; 2 or more generation affected; 1 or more colorectal cancers presenting before 50 years of age; exclusion of hereditary polyposis syndromes. The term 'suspected HNPCC' or 'incomplete HNPCC' can be used to describe families who do not or only partially fulfill the Amsterdam criteria, but in whom a genetic basis for colon cancer is strongly suspected. Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.8 Colorectal cancer (CRC) [MIM:114500]: A complex disease characterized by malignant lesions arising from the inner wall of the large intestine (the colon) and the rectum. Genetic alterations are often associated with progression from premalignant lesion (adenoma) to invasive adenocarcinoma. Risk factors for cancer of the colon and rectum include colon polyps, long-standing ulcerative colitis, and genetic family history. Note: The disease is caused by mutations affecting the gene represented in this entry.
Sequence similarities	Belongs to the DNA mismatch repair MutL/HexB family.
Sequence caution	The sequence AAC42005.1 differs from that shown. Reason: Frameshift at several positions. The sequence AAC42005.1 differs from that shown. Reason: Contaminating sequence. Sequence of unknown origin in the N-terminal part.

Ontologies

Keywords
Biological process	DNA damage DNA repair
Cellular component	Nucleus
Coding sequence diversity	Alternative splicing Polymorphism
Disease	Disease mutation Hereditary nonpolyposis colorectal cancer
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	female meiosis I Inferred from electronic annotation. Source: Compara male meiosis Inferred from electronic annotation. Source: Compara mismatch repair Non-traceable author statement PubMed 12095912. Source: UniProtKB protein localization Inferred from electronic annotation. Source: Compara reciprocal meiotic recombination Non-traceable author statement PubMed 12095912. Source: UniProtKB synaptonemal complex assembly Inferred from electronic annotation. Source: Compara
Cellular_component	MutLbeta complex Inferred from Biological aspect of Ancestor. Source: RefGenome chiasma Inferred from Biological aspect of Ancestor. Source: RefGenome male germ cell nucleus Inferred from electronic annotation. Source: Compara synaptonemal complex Inferred from Biological aspect of Ancestor. Source: RefGenome
Molecular_function	ATP binding Inferred from electronic annotation. Source: InterPro ATPase activity Inferred from Biological aspect of Ancestor. Source: RefGenome MutSalpha complex binding Inferred from Biological aspect of Ancestor. Source: RefGenome centromeric DNA binding Inferred from electronic annotation. Source: Compara chromatin binding Inferred from electronic annotation. Source: Compara mismatched DNA binding Inferred from electronic annotation. Source: InterPro satellite DNA binding Traceable author statement Ref.1. Source: ProtInc single-stranded DNA binding Inferred from Biological aspect of Ancestor. Source: RefGenome
Complete GO annotation...

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]

Isoform 1 (identifier: Q9UHC1-1)

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

Isoform 2 (identifier: Q9UHC1-2)

The sequence of this isoform differs from the canonical sequence as follows:
     1215-1238: Missing.

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 1453	1453	DNA mismatch repair protein Mlh3		PRO_0000178003
Natural variations
	Alternative sequence	1215 – 1238	24	Missing in isoform 2.		VSP_003290
	Natural variant	24	1	Q → E in HNPCC7. Ref.8 Corresponds to variant rs28937870 [ dbSNP | Ensembl ].		VAR_012946
	Natural variant	93	1	R → G. Ref.3 Corresponds to variant rs28756978 [ dbSNP | Ensembl ].		VAR_023338
	Natural variant	120	1	F → S. Ref.3 Corresponds to variant rs28756979 [ dbSNP | Ensembl ].		VAR_023339
	Natural variant	231	1	K → Q. Ref.3 Corresponds to variant rs28756981 [ dbSNP | Ensembl ].		VAR_023340
	Natural variant	420	1	V → I. Ref.3 Corresponds to variant rs28756982 [ dbSNP | Ensembl ].		VAR_023341
	Natural variant	492	1	L → V. Ref.3 Corresponds to variant rs28756983 [ dbSNP | Ensembl ].		VAR_023342
	Natural variant	494	1	H → R.		VAR_010790
	Natural variant	499	1	N → S in HNPCC7. Ref.8 Corresponds to variant rs28937871 [ dbSNP | Ensembl ].		VAR_012947
	Natural variant	600	1	R → Q. Ref.3 Corresponds to variant rs28756984 [ dbSNP | Ensembl ].		VAR_023343
	Natural variant	606	1	T → P. Ref.3 Corresponds to variant rs28756985 [ dbSNP | Ensembl ].		VAR_023344
	Natural variant	624	1	E → Q in HNPCC7. Ref.3 Ref.8 Corresponds to variant rs28756986 [ dbSNP | Ensembl ].		VAR_012948
	Natural variant	647	1	R → C in HNPCC7. Ref.3 Ref.8 Corresponds to variant rs28756987 [ dbSNP | Ensembl ].		VAR_012949
	Natural variant	720	1	Y → C. Ref.3 Corresponds to variant rs28756988 [ dbSNP | Ensembl ].		VAR_023345
	Natural variant	723	1	V → I. Ref.3 Corresponds to variant rs28756989 [ dbSNP | Ensembl ].		VAR_023346
	Natural variant	741	1	V → F. Ref.3 Corresponds to variant rs28756990 [ dbSNP | Ensembl ].		VAR_023347
	Natural variant	797	1	R → H. Ref.3 Corresponds to variant rs28756991 [ dbSNP | Ensembl ].		VAR_023348
	Natural variant	817	1	S → G in HNPCC7. Ref.8		VAR_012950
	Natural variant	826	1	N → D. Ref.1 Ref.2 Ref.3 Corresponds to variant rs175081 [ dbSNP | Ensembl ].		VAR_036781
	Natural variant	844	1	P → L. Ref.1 Ref.3 Corresponds to variant rs175080 [ dbSNP | Ensembl ].		VAR_023349
	Natural variant	845	1	S → G. Ref.3 Corresponds to variant rs28756992 [ dbSNP | Ensembl ].		VAR_023350
	Natural variant	942	1	T → I. Ref.3 Corresponds to variant rs17102999 [ dbSNP | Ensembl ].		VAR_023351
	Natural variant	966	1	S → P. Ref.3 Corresponds to variant rs17782839 [ dbSNP | Ensembl ].		VAR_023352
	Natural variant	981	1	G → S in HNPCC7. Ref.8		VAR_012951
	Natural variant	1007	1	N → S in HNPCC7. Ref.8		VAR_012952
	Natural variant	1073	1	D → N. Ref.3 Corresponds to variant rs28756993 [ dbSNP | Ensembl ].		VAR_023353
	Natural variant	1105	1	D → E. Ref.3 Corresponds to variant rs28757008 [ dbSNP | Ensembl ].		VAR_023354
	Natural variant	1163	1	G → D. Ref.3 Corresponds to variant rs28757011 [ dbSNP | Ensembl ].		VAR_023355
	Natural variant	1319	1	G → R. Ref.3		VAR_023356
	Natural variant	1394	1	A → T in HNPCC7. Ref.8		VAR_012953
	Natural variant	1451	1	E → K in HNPCC7. Ref.8 Corresponds to variant rs28939071 [ dbSNP | Ensembl ].		VAR_012954

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified January 11, 2011. Version 3. Checksum: 3D063427457DB033	FASTA	1,453	163,711
	10 20 30 40 50 60 MIKCLSVEVQ AKLRSGLAIS SLGQCVEELA LNSIDAEAKC VAVRVNMETF QVQVIDNGFG 70 80 90 100 110 120 MGSDDVEKVG NRYFTSKCHS VQDLENPRFY GFRGEALANI ADMASAVEIS SKKNRTMKTF 130 140 150 160 170 180 VKLFQSGKAL KACEADVTRA SAGTTVTVYN LFYQLPVRRK CMDPRLEFEK VRQRIEALSL 190 200 210 220 230 240 MHPSISFSLR NDVSGSMVLQ LPKTKDVCSR FCQIYGLGKS QKLREISFKY KEFELSGYIS 250 260 270 280 290 300 SEAHYNKNMQ FLFVNKRLVL RTKLHKLIDF LLRKESIICK PKNGPTSRQM NSSLRHRSTP 310 320 330 340 350 360 ELYGIYVINV QCQFCEYDVC MEPAKTLIEF QNWDTLLFCI QEGVKMFLKQ EKLFVELSGE 370 380 390 400 410 420 DIKEFSEDNG FSLFDATLQK RVTSDERSNF QEACNNILDS YEMFNLQSKA VKRKTTAENV 430 440 450 460 470 480 NTQSSRDSEA TRKNTNDAFL YIYESGGPGH SKMTEPSLQN KDSSCSESKM LEQETIVASE 490 500 510 520 530 540 AGENEKHKKS FLEHSSLENP CGTSLEMFLS PFQTPCHFEE SGQDLEIWKE STTVNGMAAN 550 560 570 580 590 600 ILKNNRIQNQ PKRFKDATEV GCQPLPFATT LWGVHSAQTE KEKKKESSNC GRRNVFSYGR 610 620 630 640 650 660 VKLCSTGFIT HVVQNEKTKS TETEHSFKNY VRPGPTRAQE TFGNRTRHSV ETPDIKDLAS 670 680 690 700 710 720 TLSKESGQLP NKKNCRTNIS YGLENEPTAT YTMFSAFQEG SKKSQTDCIL SDTSPSFPWY 730 740 750 760 770 780 RHVSNDSRKT DKLIGFSKPI VRKKLSLSSQ LGSLEKFKRQ YGKVENPLDT EVEESNGVTT 790 800 810 820 830 840 NLSLQVEPDI LLKDKNRLEN SDVCKITTME HSDSDSSCQP ASHILNSEKF PFSKDEDCLE 850 860 870 880 890 900 QQMPSLRESP MTLKELSLFN RKPLDLEKSS ESLASKLSRL KGSERETQTM GMMSRFNELP 910 920 930 940 950 960 NSDSSRKDSK LCSVLTQDFC MLFNNKHEKT ENGVIPTSDS ATQDNSFNKN SKTHSNSNTT 970 980 990 1000 1010 1020 ENCVISETPL VLPYNNSKVT GKDSDVLIRA SEQQIGSLDS PSGMLMNPVE DATGDQNGIC 1030 1040 1050 1060 1070 1080 FQSEESKARA CSETEESNTC CSDWQRHFDV ALGRMVYVNK MTGLSTFIAP TEDIQAACTK 1090 1100 1110 1120 1130 1140 DLTTVAVDVV LENGSQYRCQ PFRSDLVLPF LPRARAERTV MRQDNRDTVD DTVSSESLQS 1150 1160 1170 1180 1190 1200 LFSEWDNPVF ARYPEVAVDV SSGQAESLAV KIHNILYPYR FTKGMIHSMQ VLQQVDNKFI 1210 1220 1230 1240 1250 1260 ACLMSTKTEE NGEAGGNLLV LVDQHAAHER IRLEQLIIDS YEKQQAQGSG RKKLLSSTLI 1270 1280 1290 1300 1310 1320 PPLEITVTEE QRRLLWCYHK NLEDLGLEFV FPDTSDSLVL VGKVPLCFVE REANELRRGR 1330 1340 1350 1360 1370 1380 STVTKSIVEE FIREQLELLQ TTGGIQGTLP LTVQKVLASQ ACHGAIKFND GLSLQESCRL 1390 1400 1410 1420 1430 1440 IEALSSCQLP FQCAHGRPSM LPLADIDHLE QEKQIKPNLT KLRKMAQAWR LFGKAECDTR 1450 QSLQQSMPPC EPP
	Isoform 2 [UniParc]. Checksum: D65538977F9D7AA4	FASTA	1,429	161,021
	10 20 30 40 50 60 MIKCLSVEVQ AKLRSGLAIS SLGQCVEELA LNSIDAEAKC VAVRVNMETF QVQVIDNGFG 70 80 90 100 110 120 MGSDDVEKVG NRYFTSKCHS VQDLENPRFY GFRGEALANI ADMASAVEIS SKKNRTMKTF 130 140 150 160 170 180 VKLFQSGKAL KACEADVTRA SAGTTVTVYN LFYQLPVRRK CMDPRLEFEK VRQRIEALSL 190 200 210 220 230 240 MHPSISFSLR NDVSGSMVLQ LPKTKDVCSR FCQIYGLGKS QKLREISFKY KEFELSGYIS 250 260 270 280 290 300 SEAHYNKNMQ FLFVNKRLVL RTKLHKLIDF LLRKESIICK PKNGPTSRQM NSSLRHRSTP 310 320 330 340 350 360 ELYGIYVINV QCQFCEYDVC MEPAKTLIEF QNWDTLLFCI QEGVKMFLKQ EKLFVELSGE 370 380 390 400 410 420 DIKEFSEDNG FSLFDATLQK RVTSDERSNF QEACNNILDS YEMFNLQSKA VKRKTTAENV 430 440 450 460 470 480 NTQSSRDSEA TRKNTNDAFL YIYESGGPGH SKMTEPSLQN KDSSCSESKM LEQETIVASE 490 500 510 520 530 540 AGENEKHKKS FLEHSSLENP CGTSLEMFLS PFQTPCHFEE SGQDLEIWKE STTVNGMAAN 550 560 570 580 590 600 ILKNNRIQNQ PKRFKDATEV GCQPLPFATT LWGVHSAQTE KEKKKESSNC GRRNVFSYGR 610 620 630 640 650 660 VKLCSTGFIT HVVQNEKTKS TETEHSFKNY VRPGPTRAQE TFGNRTRHSV ETPDIKDLAS 670 680 690 700 710 720 TLSKESGQLP NKKNCRTNIS YGLENEPTAT YTMFSAFQEG SKKSQTDCIL SDTSPSFPWY 730 740 750 760 770 780 RHVSNDSRKT DKLIGFSKPI VRKKLSLSSQ LGSLEKFKRQ YGKVENPLDT EVEESNGVTT 790 800 810 820 830 840 NLSLQVEPDI LLKDKNRLEN SDVCKITTME HSDSDSSCQP ASHILNSEKF PFSKDEDCLE 850 860 870 880 890 900 QQMPSLRESP MTLKELSLFN RKPLDLEKSS ESLASKLSRL KGSERETQTM GMMSRFNELP 910 920 930 940 950 960 NSDSSRKDSK LCSVLTQDFC MLFNNKHEKT ENGVIPTSDS ATQDNSFNKN SKTHSNSNTT 970 980 990 1000 1010 1020 ENCVISETPL VLPYNNSKVT GKDSDVLIRA SEQQIGSLDS PSGMLMNPVE DATGDQNGIC 1030 1040 1050 1060 1070 1080 FQSEESKARA CSETEESNTC CSDWQRHFDV ALGRMVYVNK MTGLSTFIAP TEDIQAACTK 1090 1100 1110 1120 1130 1140 DLTTVAVDVV LENGSQYRCQ PFRSDLVLPF LPRARAERTV MRQDNRDTVD DTVSSESLQS 1150 1160 1170 1180 1190 1200 LFSEWDNPVF ARYPEVAVDV SSGQAESLAV KIHNILYPYR FTKGMIHSMQ VLQQVDNKFI 1210 1220 1230 1240 1250 1260 ACLMSTKTEE NGEADSYEKQ QAQGSGRKKL LSSTLIPPLE ITVTEEQRRL LWCYHKNLED 1270 1280 1290 1300 1310 1320 LGLEFVFPDT SDSLVLVGKV PLCFVEREAN ELRRGRSTVT KSIVEEFIRE QLELLQTTGG 1330 1340 1350 1360 1370 1380 IQGTLPLTVQ KVLASQACHG AIKFNDGLSL QESCRLIEAL SSCQLPFQCA HGRPSMLPLA 1390 1400 1410 1420 DIDHLEQEKQ IKPNLTKLRK MAQAWRLFGK AECDTRQSLQ QSMPPCEPP

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"MLH3: a DNA mismatch repair gene associated with mammalian microsatellite instability." Lipkin S.M., Wang V., Jacoby R., Banerjee-Basu S., Baxevanis A.D., Lynch H.T., Elliott R.M., Collins F.S. Nat. Genet. 24:27-35(2000) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA], ALTERNATIVE SPLICING, VARIANTS ASP-826 AND LEU-844.
[2]	"The interacting domains of three MutL heterodimers in man: hMLH1 interacts with 36 homologous amino acid residues within hMLH3, hPMS1 and hPMS2." Kondo E., Horii A., Fukushige S. Nucleic Acids Res. 29:1695-1702(2001) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA], INTERACTION WITH MLH1, VARIANT ASP-826.
[3]	NIEHS SNPs program Submitted (MAR-2005) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANTS GLY-93; SER-120; GLN-231; ILE-420; VAL-492; GLN-600; PRO-606; GLN-624; CYS-647; CYS-720; ILE-723; PHE-741; HIS-797; ASP-826; LEU-844; GLY-845; ILE-942; PRO-966; ASN-1073; GLU-1105; ASP-1163 AND ARG-1319.
[4]	"The DNA sequence and analysis of human chromosome 14." Heilig R., Eckenberg R., Petit J.-L., Fonknechten N., Da Silva C., Cattolico L., Levy M., Barbe V., De Berardinis V., Ureta-Vidal A., Pelletier E., Vico V., Anthouard V., Rowen L., Madan A., Qin S., Sun H., Du H. , Pepin K., Artiguenave F., Robert C., Cruaud C., Bruels T., Jaillon O., Friedlander L., Samson G., Brottier P., Cure S., Segurens B., Aniere F., Samain S., Crespeau H., Abbasi N., Aiach N., Boscus D., Dickhoff R., Dors M., Dubois I., Friedman C., Gouyvenoux M., James R., Madan A., Mairey-Estrada B., Mangenot S., Martins N., Menard M., Oztas S., Ratcliffe A., Shaffer T., Trask B., Vacherie B., Bellemere C., Belser C., Besnard-Gonnet M., Bartol-Mavel D., Boutard M., Briez-Silla S., Combette S., Dufosse-Laurent V., Ferron C., Lechaplais C., Louesse C., Muselet D., Magdelenat G., Pateau E., Petit E., Sirvain-Trukniewicz P., Trybou A., Vega-Czarny N., Bataille E., Bluet E., Bordelais I., Dubois M., Dumont C., Guerin T., Haffray S., Hammadi R., Muanga J., Pellouin V., Robert D., Wunderle E., Gauguet G., Roy A., Sainte-Marthe L., Verdier J., Verdier-Discala C., Hillier L.W., Fulton L., McPherson J., Matsuda F., Wilson R., Scarpelli C., Gyapay G., Wincker P., Saurin W., Quetier F., Waterston R., Hood L., Weissenbach J. Nature 421:601-607(2003) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[5]	"Cloning of a gene bearing missense mutations in early-onset familial Alzheimer's disease." Sherrington R., Rogaev E.I., Liang Y., Rogaeva E.A., Levesque G., Ikeda M., Chi H., Lin C., Li G., Holman K., Tsuda T., Mar L., Foncin J.-F., Bruni A.C., Montesi M.P., Sorbi S., Rainero I., Pinessi L. , Nee L., Chumakov I., Pollen D., Brookes A., Sanseau P., Polinsky R.J., Wasco W., da Silva H.A.R., Haines J.L., Pericak-Vance M.A., Tanzi R.E., Roses A.D., Fraser P.E., Rommens J.M., St George-Hyslop P.H. Nature 375:754-760(1995) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 1189-1453. Tissue: Brain.
[6]	"Germline and somatic mutation analyses in the DNA mismatch repair gene MLH3: evidence for somatic mutation in colorectal cancers." Lipkin S.M., Wang V., Stoler D.L., Anderson G.R., Kirsch I., Hadley D., Lynch H.T., Collins F.S. Hum. Mutat. 17:389-396(2001) [PubMed] [Europe PMC] [Abstract] Cited for: INVOLVEMENT IN SOMATIC COLORECTAL CANCER.
[7]	"A genetic screen identifies FAN1, a Fanconi anemia-associated nuclease necessary for DNA interstrand crosslink repair." Smogorzewska A., Desetty R., Saito T.T., Schlabach M., Lach F.P., Sowa M.E., Clark A.B., Kunkel T.A., Harper J.W., Colaiacovo M.P., Elledge S.J. Mol. Cell 39:36-47(2010) [PubMed] [Europe PMC] [Abstract] Cited for: INTERACTION WITH MTMR15.
[8]	"A role for MLH3 in hereditary nonpolyposis colorectal cancer." Wu Y., Berends M.J.W., Sijmons R.H., Mensink R.G.J., Verlind E., Kooi K.A., van der Sluis T., Kempinga C., van der Zee A.G.J., Hollema H., Buys C.H.C.M., Kleibeuker J.H., Hofstra R.M.W. Nat. Genet. 29:137-138(2001) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS HNPCC7 GLU-24; SER-499; GLN-624; CYS-647; GLY-817; SER-981; SER-1007; THR-1394 AND LYS-1451.
+	Additional computationally mapped references.

Web resources

NIEHS-SNPs

Cross-references

Sequence databases
EMBL GenBank DDBJ	AF195657 mRNA. Translation: AAF23904.1. AF195658 Genomic DNA. Translation: AAF23905.1. AB039667 mRNA. Translation: BAA92353.1. AY963685 Genomic DNA. Translation: AAX59030.1. AL049780 Genomic DNA. No translation available. L40399 mRNA. Translation: AAC42005.1. Sequence problems.
IPI	IPI00005811. IPI00218050.
RefSeq	NP_001035197.1. NM_001040108.1.
UniGene	Hs.436650.
3D structure databases
ProteinModelPortal	Q9UHC1.
SMR	Q9UHC1. Positions 1-269, 1219-1409.
ModBase	Search...
Protein-protein interaction databases
IntAct	Q9UHC1. 1 interaction.
STRING	9606.ENSP00000348020.
PTM databases
PhosphoSite	Q9UHC1.
Polymorphism databases
DMDM	13878584.
Proteomic databases
PaxDb	Q9UHC1.
PRIDE	Q9UHC1.
Protocols and materials databases
DNASU	27030.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000238662; ENSP00000238662; ENSG00000119684. ENST00000355774; ENSP00000348020; ENSG00000119684. ENST00000556740; ENSP00000452316; ENSG00000119684.
GeneID	27030.
KEGG	hsa:27030.
UCSC	uc001xrd.1. human. uc001xre.1. human.
Organism-specific databases
CTD	27030.
GeneCards	GC14M075481.
HGNC	HGNC:7128. MLH3.
MIM	114500. phenotype. 604395. gene. 614385. phenotype.
neXtProt	NX_Q9UHC1.
Orphanet	144. Hereditary nonpolyposis colon cancer.
PharmGKB	PA30845.
GenAtlas	Search...
Phylogenomic databases
eggNOG	COG0323.
HOGENOM	HOG000140944.
HOVERGEN	HBG006375.
InParanoid	Q9UHC1.
KO	K08739.
OMA	HGAIKFN.
PhylomeDB	Q9UHC1.
Enzyme and pathway databases
Reactome	REACT_111183. Meiosis.
Gene expression databases
ArrayExpress	Q9UHC1.
Bgee	Q9UHC1.
CleanEx	HS_MLH3.
Genevestigator	Q9UHC1.
GermOnline	ENSG00000119684. Homo sapiens.
Family and domain databases
Gene3D	3.30.230.10. 1 hit. 3.30.565.10. 1 hit.
InterPro	IPR002099. DNA_mismatch_repair. IPR013507. DNA_mismatch_repair_C. IPR014762. DNA_mismatch_repair_CS. IPR003594. HATPase_ATP-bd. IPR014790. MutL_C. IPR020568. Ribosomal_S5_D2-typ_fold. IPR014721. Ribosomal_S5_D2-typ_fold_subgr. [Graphical view]
PANTHER	PTHR10073. PTHR10073. 1 hit.
Pfam	PF01119. DNA_mis_repair. 1 hit. PF02518. HATPase_c. 1 hit. PF08676. MutL_C. 1 hit. [Graphical view]
SMART	SM00387. HATPase_c. 1 hit. SM00853. MutL_C. 1 hit. [Graphical view]
SUPFAM	SSF55874. ATP_bd_ATPase. 1 hit. SSF54211. Ribosomal_S5_D2-typ_fold. 1 hit.
PROSITE	PS00058. DNA_MISMATCH_REPAIR_1. 1 hit. [Graphical view]
ProtoNet	Search...
Other
ChiTaRS	MLH3. human.
GenomeRNAi	27030.
NextBio	49558.
SOURCE	Search...

Entry information

Entry name

MLH3_HUMAN

Accession

Primary (citable) accession number: Q9UHC1
Secondary accession number(s): P49751 , Q56DK9, Q9P292, Q9UHC0

Entry history

Integrated into UniProtKB/Swiss-Prot:	April 27, 2001
Last sequence update:	January 11, 2011
Last modified:	May 1, 2013
This is version 118 of the entry and version 3 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.