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P54277 (PMS1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 144. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (6) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
PMS1 protein homolog 1
Alternative name(s):
DNA mismatch repair protein PMS1
Gene names
Name:PMS1
Synonyms:PMSL1
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length932 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

Probably involved in the repair of mismatches in DNA. Ref.7

Subunit structure

The MutL-beta complex is a heterodimer of PMS1 and MLH1. Ref.7

Subcellular location

Nucleus Potential.

Sequence similarities

Belongs to the DNA mismatch repair MutL/HexB family.

Contains 1 HMG box DNA-binding domain.

Alternative products

This entry describes 4 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: P54277-1)

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: P54277-2)

The sequence of this isoform differs from the canonical sequence as follows:
     619-619: K → N
     620-781: Missing.
Note: No experimental confirmation available.
Isoform 3 (identifier: P54277-3)

The sequence of this isoform differs from the canonical sequence as follows:
     195-233: Missing.
Isoform 4 (identifier: P54277-4)

The sequence of this isoform differs from the canonical sequence as follows:
     1-176: Missing.
     195-233: Missing.
     619-619: K → N
     620-781: Missing.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 932932PMS1 protein homolog 1
PRO_0000178004

Regions

DNA binding571 – 63969HMG box

Natural variations

Alternative sequence1 – 176176Missing in isoform 4.
VSP_047692
Alternative sequence195 – 23339Missing in isoform 3 and isoform 4.
VSP_043371
Alternative sequence6191K → N in isoform 2 and isoform 4.
VSP_042676
Alternative sequence620 – 781162Missing in isoform 2 and isoform 4.
VSP_042677
Natural variant271E → Q. Ref.3
Corresponds to variant rs5742973 [ dbSNP | Ensembl ].
VAR_019166
Natural variant2021R → K. Ref.3
Corresponds to variant rs2066459 [ dbSNP | Ensembl ].
VAR_014877
Natural variant3941M → T. Ref.11
Corresponds to variant rs1145231 [ dbSNP | Ensembl ].
VAR_012967
Natural variant5011G → R. Ref.3 Ref.11
Corresponds to variant rs1145232 [ dbSNP | Ensembl ].
VAR_012968
Natural variant6321N → S. Ref.3
Corresponds to variant rs2066456 [ dbSNP | Ensembl ].
VAR_014878
Natural variant7201E → D. Ref.3
Corresponds to variant rs2066455 [ dbSNP | Ensembl ].
VAR_014879
Natural variant7931Y → H. Ref.3
Corresponds to variant rs1145234 [ dbSNP | Ensembl ].
VAR_014880

Secondary structure

......... 932
Helix Strand Turn

Details...

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified October 1, 1996. Version 1.
Checksum: EC4F402937B616DF

FASTA932105,830
        10         20         30         40         50         60 
MKQLPAATVR LLSSSQIITS VVSVVKELIE NSLDAGATSV DVKLENYGFD KIEVRDNGEG 

        70         80         90        100        110        120 
IKAVDAPVMA MKYYTSKINS HEDLENLTTY GFRGEALGSI CCIAEVLITT RTAADNFSTQ 

       130        140        150        160        170        180 
YVLDGSGHIL SQKPSHLGQG TTVTALRLFK NLPVRKQFYS TAKKCKDEIK KIQDLLMSFG 

       190        200        210        220        230        240 
ILKPDLRIVF VHNKAVIWQK SRVSDHKMAL MSVLGTAVMN NMESFQYHSE ESQIYLSGFL 

       250        260        270        280        290        300 
PKCDADHSFT SLSTPERSFI FINSRPVHQK DILKLIRHHY NLKCLKESTR LYPVFFLKID 

       310        320        330        340        350        360 
VPTADVDVNL TPDKSQVLLQ NKESVLIALE NLMTTCYGPL PSTNSYENNK TDVSAADIVL 

       370        380        390        400        410        420 
SKTAETDVLF NKVESSGKNY SNVDTSVIPF QNDMHNDESG KNTDDCLNHQ ISIGDFGYGH 

       430        440        450        460        470        480 
CSSEISNIDK NTKNAFQDIS MSNVSWENSQ TEYSKTCFIS SVKHTQSENG NKDHIDESGE 

       490        500        510        520        530        540 
NEEEAGLENS SEISADEWSR GNILKNSVGE NIEPVKILVP EKSLPCKVSN NNYPIPEQMN 

       550        560        570        580        590        600 
LNEDSCNKKS NVIDNKSGKV TAYDLLSNRV IKKPMSASAL FVQDHRPQFL IENPKTSLED 

       610        620        630        640        650        660 
ATLQIEELWK TLSEEEKLKY EEKATKDLER YNSQMKRAIE QESQMSLKDG RKKIKPTSAW 

       670        680        690        700        710        720 
NLAQKHKLKT SLSNQPKLDE LLQSQIEKRR SQNIKMVQIP FSMKNLKINF KKQNKVDLEE 

       730        740        750        760        770        780 
KDEPCLIHNL RFPDAWLMTS KTEVMLLNPY RVEEALLFKR LLENHKLPAE PLEKPIMLTE 

       790        800        810        820        830        840 
SLFNGSHYLD VLYKMTADDQ RYSGSTYLSD PRLTANGFKI KLIPGVSITE NYLEIEGMAN 

       850        860        870        880        890        900 
CLPFYGVADL KEILNAILNR NAKEVYECRP RKVISYLEGE AVRLSRQLPM YLSKEDIQDI 

       910        920        930 
IYRMKHQFGN EIKECVHGRP FFHHLTYLPE TT 

« Hide

Isoform 2 [UniParc].

Checksum: 6C418989F9371A83
Show »

FASTA77086,643
Isoform 3 [UniParc].

Checksum: F017D1347739469E
Show »

FASTA893101,377
Isoform 4 [UniParc].

Checksum: 5FDD81AEB92618A6
Show »

FASTA55562,919

References

« Hide 'large scale' references
[1]"Mutations of two PMS homologues in hereditary nonpolyposis colon cancer."
Nicolaides N.C., Papadopoulos N., Liu B., Wei Y.-F., Carter K.C., Ruben S.M., Rosen C.A., Haseltine W.H., Fleischmann R.D., Fraser C.M., Adams M.D., Venter J.C., Dunlop M.G., Hamilton S.R., Petersen G.M., de la Chapelle A., Vogelstein B., Kinzler K.W.
Nature 371:75-80(1994) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
Tissue: Gall bladder.
[2]"PMS1 mRNA, nirs splice variants."
Hayashi A., Sameshima E., Tabata Y., Iida K., Mitsuyama M., Kanai S., Furuya T., Saito T.
Submitted (FEB-2003) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 2; 3 AND 4).
[3]NIEHS SNPs program
Submitted (APR-2003) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANTS GLN-27; LYS-202; ARG-501; SER-632; ASP-720 AND HIS-793.
[4]"Generation and annotation of the DNA sequences of human chromosomes 2 and 4."
Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P., Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C., Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L., Du H. expand/collapse author list , Sun H., Bradshaw-Cordum H., Ali J., Carter J., Cordes M., Harris A., Isak A., van Brunt A., Nguyen C., Du F., Courtney L., Kalicki J., Ozersky P., Abbott S., Armstrong J., Belter E.A., Caruso L., Cedroni M., Cotton M., Davidson T., Desai A., Elliott G., Erb T., Fronick C., Gaige T., Haakenson W., Haglund K., Holmes A., Harkins R., Kim K., Kruchowski S.S., Strong C.M., Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K., McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N., Swearengen-Shahid S., Snider J., Strong J.T., Thompson J., Yoakum M., Leonard S., Pearman C., Trani L., Radionenko M., Waligorski J.E., Wang C., Rock S.M., Tin-Wollam A.-M., Maupin R., Latreille P., Wendl M.C., Yang S.-P., Pohl C., Wallis J.W., Spieth J., Bieri T.A., Berkowicz N., Nelson J.O., Osborne J., Ding L., Meyer R., Sabo A., Shotland Y., Sinha P., Wohldmann P.E., Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Jones T.A., She X., Ciccarelli F.D., Izaurralde E., Taylor J., Schmutz J., Myers R.M., Cox D.R., Huang X., McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C., Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S., Miller W., Eichler E.E., Bork P., Suyama M., Torrents D., Waterston R.H., Wilson R.K.
Nature 434:724-731(2005) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[5]Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. expand/collapse author list , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C.
Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[6]"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
The MGC Project Team
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1-920 (ISOFORM 1).
[7]"Identification of a second MutL DNA mismatch repair complex (hPMS1 and hMLH1) in human epithelial cells."
Leung W.K., Kim J.J., Wu L., Sepulveda J.L., Sepulveda A.R.
J. Biol. Chem. 275:15728-15732(2000) [PubMed] [Europe PMC] [Abstract]
Cited for: FUNCTION, SUBUNIT, INTERACTION WITH MLH1.
[8]"Initial characterization of the human central proteome."
Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J.
BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract]
Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
[9]"N-terminal acetylome analyses and functional insights of the N-terminal acetyltransferase NatB."
Van Damme P., Lasa M., Polevoda B., Gazquez C., Elosegui-Artola A., Kim D.S., De Juan-Pardo E., Demeyer K., Hole K., Larrea E., Timmerman E., Prieto J., Arnesen T., Sherman F., Gevaert K., Aldabe R.
Proc. Natl. Acad. Sci. U.S.A. 109:12449-12454(2012) [PubMed] [Europe PMC] [Abstract]
Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
[10]"Solution structure of the HMG domain of human DNA mismatch repair protein."
RIKEN structural genomics initiative (RSGI)
Submitted (NOV-2005) to the PDB data bank
Cited for: STRUCTURE BY NMR OF 571-649.
[11]"Prevalence of germline mutations of hMLH1, hMSH2, hPMS1, hPMS2, and hMSH6 genes in 75 French kindreds with nonpolyposis colorectal cancer."
Wang Q., Lasset C., Desseigne F., Saurin J.-C., Maugard C., Navarro C., Ruano E., Descos L., Trillet-Lenoir V., Bosset J.-F., Puisieux A.
Hum. Genet. 105:79-85(1999) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS THR-394 AND ARG-501.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
U13695 Genomic DNA. Translation: AAA63922.1.
AB102870 mRNA. Translation: BAD89399.1.
AB102872 mRNA. Translation: BAD89401.1.
AB102875 mRNA. Translation: BAD89404.1.
AY267352 Genomic DNA. Translation: AAO89079.1.
AC008122 Genomic DNA. No translation available.
AC013468 Genomic DNA. No translation available.
CH471058 Genomic DNA. Translation: EAX10883.1.
CH471058 Genomic DNA. Translation: EAX10885.1.
BC096330 mRNA. Translation: AAH96330.1.
BC096332 mRNA. Translation: AAH96332.1.
CCDSCCDS2302.1. [P54277-1]
CCDS46473.1. [P54277-2]
CCDS46474.1. [P54277-3]
PIRS47597.
RefSeqNP_000525.1. NM_000534.4. [P54277-1]
NP_001121615.1. NM_001128143.1. [P54277-3]
NP_001121616.1. NM_001128144.1. [P54277-2]
NP_001276337.1. NM_001289408.1.
XP_005246704.1. XM_005246647.1. [P54277-1]
UniGeneHs.111749.

3D structure databases

PDBe
RCSB-PDB
PDBj
EntryMethodResolution (Å)ChainPositionsPDBsum
2CS1NMR-A571-649[»]
ProteinModelPortalP54277.
SMRP54277. Positions 16-330, 571-649.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid111391. 50 interactions.
IntActP54277. 1 interaction.
STRING9606.ENSP00000406490.

PTM databases

PhosphoSiteP54277.

Polymorphism databases

DMDM1709683.

Proteomic databases

MaxQBP54277.
PaxDbP54277.
PRIDEP54277.

Protocols and materials databases

DNASU5378.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000409593; ENSP00000387169; ENSG00000064933. [P54277-4]
ENST00000409823; ENSP00000387125; ENSG00000064933. [P54277-3]
ENST00000441310; ENSP00000406490; ENSG00000064933. [P54277-1]
ENST00000447232; ENSP00000401064; ENSG00000064933. [P54277-2]
GeneID5378.
KEGGhsa:5378.
UCSCuc002urh.4. human. [P54277-1]
uc002uri.4. human. [P54277-2]
uc002urk.4. human. [P54277-3]

Organism-specific databases

CTD5378.
GeneCardsGC02P190648.
GeneReviewsPMS1.
H-InvDBHIX0029784.
HGNCHGNC:9121. PMS1.
HPACAB010233.
HPA046075.
MIM600258. gene.
neXtProtNX_P54277.
Orphanet144. Hereditary nonpolyposis colon cancer.
PharmGKBPA33447.
GenAtlasSearch...

Phylogenomic databases

eggNOGCOG0323.
HOGENOMHOG000039972.
HOVERGENHBG031886.
InParanoidP54277.
KOK10864.
OMAPFFHHLT.
OrthoDBEOG7S4X59.
PhylomeDBP54277.
TreeFamTF300711.

Gene expression databases

ArrayExpressP54277.
BgeeP54277.
CleanExHS_PMS1.
GenevestigatorP54277.

Family and domain databases

Gene3D1.10.30.10. 1 hit.
3.30.230.10. 1 hit.
3.30.565.10. 1 hit.
InterProIPR013507. DNA_mismatch_repair_C.
IPR014762. DNA_mismatch_repair_CS.
IPR002099. DNA_mismatch_repair_fam.
IPR003594. HATPase_ATP-bd.
IPR009071. HMG_box_dom.
IPR020568. Ribosomal_S5_D2-typ_fold.
IPR014721. Ribosomal_S5_D2-typ_fold_subgr.
[Graphical view]
PfamPF01119. DNA_mis_repair. 1 hit.
PF02518. HATPase_c. 1 hit.
PF00505. HMG_box. 1 hit.
[Graphical view]
SMARTSM00387. HATPase_c. 1 hit.
SM00398. HMG. 1 hit.
[Graphical view]
SUPFAMSSF47095. SSF47095. 1 hit.
SSF54211. SSF54211. 1 hit.
SSF55874. SSF55874. 1 hit.
TIGRFAMsTIGR00585. mutl. 1 hit.
PROSITEPS00058. DNA_MISMATCH_REPAIR_1. 1 hit.
PS50118. HMG_BOX_2. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

ChiTaRSPMS1. human.
EvolutionaryTraceP54277.
GeneWikiPMS1.
GenomeRNAi5378.
NextBio20866.
PROP54277.
SOURCESearch...

Entry information

Entry namePMS1_HUMAN
AccessionPrimary (citable) accession number: P54277
Secondary accession number(s): D3DPI1 expand/collapse secondary AC list , Q4VAL4, Q5FBZ3, Q5FBZ6, Q5FBZ8
Entry history
Integrated into UniProtKB/Swiss-Prot: October 1, 1996
Last sequence update: October 1, 1996
Last modified: July 9, 2014
This is version 144 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

PDB cross-references

Index of Protein Data Bank (PDB) cross-references

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 2

Human chromosome 2: entries, gene names and cross-references to MIM