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P54277 (PMS1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified January 25, 2012. Version 117. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (6) | Third-party data text xml rdf/xml gff fasta
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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)
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.

Subcellular location

Nucleus Potential.

Involvement in disease

Defects in PMS1 are the cause of hereditary non-polyposis colorectal cancer type 3 (HNPCC3) [MIM:600258]. Mutations in more than one gene locus can be involved alone or in combination in the production of the HNPCC phenotype (also called Lynch syndrome). Most families with clinically recognized HNPCC have mutations in either MLH1 or MSH2 genes. HNPCC is an autosomal, dominantly inherited disease associated with marked increase in cancer susceptibility. It is characterized by a familial predisposition to early onset colorectal carcinoma (CRC) and extra-colonic cancers 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, and accounts for 15% of all colon cancers. Cancers in HNPCC originate within benign neoplastic polyps termed adenomas. Clinically, HNPCC is often divided into two subgroups. Type I: hereditary predisposition to colorectal cancer, a young age of onset, and carcinoma observed in the proximal colon. Type II: patients have an 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. Ref.6

Sequence similarities

Belongs to the DNA mismatch repair mutL/hexB family.

Contains 1 HMG box DNA-binding domain.

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

Natural variant271E → Q. Ref.2
Corresponds to variant rs5742973 [ dbSNP | Ensembl ].
VAR_019166
Natural variant2021R → K. Ref.2
Corresponds to variant rs2066459 [ dbSNP | Ensembl ].
VAR_014877
Natural variant3941M → T in incomplete HNPCC3. Ref.6
Corresponds to variant rs1145231 [ dbSNP | Ensembl ].
VAR_012967
Natural variant5011G → R in incomplete HNPCC3. Ref.2 Ref.6
Corresponds to variant rs1145232 [ dbSNP | Ensembl ].
VAR_012968
Natural variant6321N → S. Ref.2
Corresponds to variant rs2066456 [ dbSNP | Ensembl ].
VAR_014878
Natural variant7201E → D. Ref.2
Corresponds to variant rs2066455 [ dbSNP | Ensembl ].
VAR_014879
Natural variant7931Y → H. Ref.2
Corresponds to variant rs1145234 [ dbSNP | Ensembl ].
VAR_014880

Secondary structure

......... 932
Helix Strand Turn

Details...

Sequences

Sequence LengthMass (Da)Tools
P54277 [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

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: 8072530] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
Tissue: Gall bladder.
[2]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.
[3]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].
[4]"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: 21269460] [Abstract]
Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
[5]"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.
[6]"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: 10480359] [Abstract]
Cited for: VARIANTS HNPCC3 THR-394 AND ARG-501.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
U13695 Genomic DNA. Translation: AAA63922.1.
AY267352 Genomic DNA. Translation: AAO89079.1.
CH471058 Genomic DNA. Translation: EAX10883.1.
CH471058 Genomic DNA. Translation: EAX10885.1.
IPIIPI00005541.
PIRS47597.
RefSeqNP_000525.1. NM_000534.4.
UniGeneHs.111749.

3D structure databases

PDBe
RCSB PDB
PDBj
EntryMethodResolution (Å)ChainPositionsPDBsum
2CS1NMR-A571-649[»]
ProteinModelPortalP54277.
SMRP54277. Positions 15-339, 571-649.
ModBaseSearch...

Protein-protein interaction databases

IntActP54277. 1 interaction.
STRINGP54277.

PTM databases

PhosphoSiteP54277.

Polymorphism databases

DMDM1709683.

Proteomic databases

PRIDEP54277.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000441310; ENSP00000406490; ENSG00000064933.
GeneID5378.
KEGGhsa:5378.
UCSCuc002urh.2. human.

Organism-specific databases

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

Phylogenomic databases

eggNOGprNOG15452.
HOGENOMHBG715132.
HOVERGENHBG031886.
InParanoidP54277.
OMAHKLPAEP.
OrthoDBEOG41C6VK.
PhylomeDBP54277.

Gene expression databases

ArrayExpressP54277.
BgeeP54277.
CleanExHS_PMS1.
GenevestigatorP54277.
GermOnlineENSG00000064933. Homo sapiens.

Family and domain databases

InterProIPR003594. ATPase-like_ATP-bd.
IPR002099. DNA_mismatch_repair.
IPR013507. DNA_mismatch_repair_C.
IPR014762. DNA_mismatch_repair_CS.
IPR014763. DNA_mismatch_repair_N.
IPR000910. HMG_HMG1/HMG2.
IPR009071. HMG_superfamily.
IPR020568. Ribosomal_S5_D2-typ_fold.
IPR014721. Ribosomal_S5_D2-typ_fold_subgr.
[Graphical view]
Gene3DG3DSA:3.30.565.10. ATP_bd_ATPase. 1 hit.
G3DSA:1.10.30.10. HMG-box. 1 hit.
G3DSA:3.30.230.10. Ribosomal_S5_D2-type_fold. 1 hit.
KOK10864.
PANTHERPTHR10073. DNA_mis_repair. 1 hit.
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]
SUPFAMSSF55874. ATP_bd_ATPase. 1 hit.
SSF47095. HMG-box. 1 hit.
SSF54211. Ribosomal_S5_D2-typ_fold. 1 hit.
TIGRFAMsTIGR00585. Mutl. 1 hit.
PROSITEPS00058. DNA_MISMATCH_REPAIR_1. 1 hit.
PS50118. HMG_BOX_2. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

NextBio20866.
SOURCESearch...

Entry information

Entry namePMS1_HUMAN
AccessionPrimary (citable) accession number: P54277
Secondary accession number(s): D3DPI1
Entry history
Integrated into UniProtKB/Swiss-Prot: October 1, 1996
Last sequence update: October 1, 1996
Last modified: January 25, 2012
This is version 117 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

Human chromosome 2

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

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

MIM cross-references

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

PDB cross-references

Index of Protein Data Bank (PDB) cross-references

SIMILARITY comments

Index of protein domains and families