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Description:
PMS1 protein homolog 1 (DNA mismatch repair protein PMS1).
Molecular weight: 10583
View which proteins in this organism that is involved with DNA Repair;
classified after biological processes (using data from the GOA project):
DNA repair( GO:0006281 ) mismatch repair( GO:0006298 )
Important dates:
01-OCT-1996, integrated into UniProtKB/Swiss-Prot.
01-OCT-1996, sequence version 1.
21-FEB-2006, entry version 52.
Phylogenetic order:
Eukaryota Metazoa Chordata Craniata Vertebrata Euteleostomi Mammalia Eutheria Euarchontoglires Primates Catarrhini Hominidae Homo.
To calculate the pI (Isoelectric point - the pH where a protein has a neutral charge),
go to this page and enter the protein ID (e.g 3MG_ECOLI): http://us.expasy.org/tools/pi_tool.html
Links to references in other databases for protein PMS1_HUMAN:
| Database | Pointer | Add. info#1 | Add. info#2 |
| EMBL | U13695 | AAA63922.1 | - |
| EMBL | AY267352 | AAO89079.1 | - |
| PIR | S47597 | S47597. | |
| PDB | 2CS1 | NMR | A=571-649. |
| Ensembl | ENSG00000064933 | Homo sapiens.1 | |
| HGNC | HGNC:9121 | PMS1.1 | |
| MIM | 600258 | gene+phenotype. | |
| GO | GO:0005634 | C:nucleus | TAS. |
| GO | GO:0003677 | F:DNA binding | TAS. |
| GO | GO:0006298 | P:mismatch repair | TAS. |
| InterPro | IPR003594 | ATP_bd_ATPase. | |
| InterPro | IPR002099 | DNA_mis_repair. | |
| InterPro | IPR000910 | HMG_12_box. | |
| PANTHER | PTHR10073 | DNA_mis_repair.1 | 1. |
| Pfam | PF01119 | DNA_mis_repair | 1. |
| Pfam | PF02518 | HATPase_c | 1. |
| Pfam | PF00505 | HMG_box | 1. |
| SMART | SM00398 | HMG | 1. |
| TIGRFAMs | TIGR00585 | mutl | 1. |
| PROSITE | PS00058 | DNA_MISMATCH_REPAIR_1 | 1. |
| PROSITE | PS50118 | HMG_BOX_2 | 1. |
Keywords:
3D-structure; Anti-oncogene; Cell cycle; Disease mutation; DNA damage; DNA repair; Hereditary nonpolyposis colorectal cancer; Nuclear protein; Polymorphism.
References:
RN [1]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA].
RC TISSUE=Gall bladder;
RX MEDLINE=94352394; PubMed=8072530; DOI=10.1038/371075a0;
RA Nicolaides N.C., Papadopoulos N., Liu B., Wei Y.-F., Carter K.C.,
RA Ruben S.M., Rosen C.A., Haseltine W.H., Fleischmann R.D., Fraser C.M.,
RA Adams M.D., Venter J.C., Dunlop M.G., Hamilton S.R., Petersen G.M.,
RA de la Chapelle A., Vogelstein B., Kinzler K.W.;
RT "Mutations of two PMS homologues in hereditary nonpolyposis colon
RT cancer.";
RL Nature 371:75-80(1994).
RN [2]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA], AND VARIANTS GLN-27; LYS-202;
RP ARG-501; SER-632; ASP-720 AND HIS-793.
RA Rieder M.J., Livingston R.J., Daniels M.R., Chung M.-W.,
RA Miyamoto K.E., Nguyen C.P., Nguyen D.A., Poel C.L., Robertson P.D.,
RA Schackwitz W.S., Sherwood J.K., Witrak L.A., Nickerson D.A.;
RT "NIEHS-SNPs, environmental genome project, NIEHS ES15478, Department
RT of Genome Sciences, Seattle, WA (URL: http://egp.gs.washington.edu).";
RL Submitted (APR-2003) to the EMBL/GenBank/DDBJ databases.
RN [3]
RP VARIANTS HNPCC3 THR-394 AND ARG-501.
RX MEDLINE=99408236; PubMed=10480359; DOI=10.1007/s004390051067;
RA Wang Q., Lasset C., Desseigne F., Saurin J.-C., Maugard C.,
RA Navarro C., Ruano E., Descos L., Trillet-Lenoir V., Bosset J.-F.,
RA Puisieux A.;
RT "Prevalence of germline mutations of hMLH1, hMSH2, hPMS1, hPMS2, and
RT hMSH6 genes in 75 French kindreds with nonpolyposis colorectal
RT cancer.";
RL Hum. Genet. 105:79-85(1999).
Feature:
CHAIN 1 932 PMS1 protein homolog 1.
/FTId=PRO_0000178004.
DNA_BIND 571 639 HMG box.
VARIANT 27 27 E -> Q (in dbSNP:5742973).
/FTId=VAR_019166.
VARIANT 202 202 R -> K (in dbSNP:2066459).
/FTId=VAR_014877.
VARIANT 394 394 M -> T (in incomplete HNPCC3;
dbSNP:1145231).
/FTId=VAR_012967.
VARIANT 501 501 G -> R (in incomplete HNPCC3;
dbSNP:1145232).
/FTId=VAR_012968.
VARIANT 632 632 N -> S (in dbSNP:2066456).
/FTId=VAR_014878.
VARIANT 720 720 E -> D (in dbSNP:2066455).
/FTId=VAR_014879.
VARIANT 793 793 Y -> H (in dbSNP:1145234).
/FTId=VAR_014880.
Comments:
-!- FUNCTION: Probably involved in the repair of mismatches in DNA.
-!- SUBCELLULAR LOCATION: Nucleus (Potential).
-!- 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.
-!- SIMILARITY: Belongs to the DNA mismatch repair mutL/hexB family.
-!- SIMILARITY: Contains 1 HMG box DNA-binding domain.
-!- DATABASE: NAME=Hereditary non-polyposis colorectal cancer db;
WWW="http://www.nfdht.nl/".
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Sequence length: 932
MKQLPAATVR LLSSSQIITS VVSVVKELIE NSLDAGATSV DVKLENYGFD KIEVRDNGEG
IKAVDAPVMA MKYYTSKINS HEDLENLTTY GFRGEALGSI CCIAEVLITT RTAADNFSTQ
YVLDGSGHIL SQKPSHLGQG TTVTALRLFK NLPVRKQFYS TAKKCKDEIK KIQDLLMSFG
ILKPDLRIVF VHNKAVIWQK SRVSDHKMAL MSVLGTAVMN NMESFQYHSE ESQIYLSGFL
PKCDADHSFT SLSTPERSFI FINSRPVHQK DILKLIRHHY NLKCLKESTR LYPVFFLKID
VPTADVDVNL TPDKSQVLLQ NKESVLIALE NLMTTCYGPL PSTNSYENNK TDVSAADIVL
SKTAETDVLF NKVESSGKNY SNVDTSVIPF QNDMHNDESG KNTDDCLNHQ ISIGDFGYGH
CSSEISNIDK NTKNAFQDIS MSNVSWENSQ TEYSKTCFIS SVKHTQSENG NKDHIDESGE
NEEEAGLENS SEISADEWSR GNILKNSVGE NIEPVKILVP EKSLPCKVSN NNYPIPEQMN
LNEDSCNKKS NVIDNKSGKV TAYDLLSNRV IKKPMSASAL FVQDHRPQFL IENPKTSLED
ATLQIEELWK TLSEEEKLKY EEKATKDLER YNSQMKRAIE QESQMSLKDG RKKIKPTSAW
NLAQKHKLKT SLSNQPKLDE LLQSQIEKRR SQNIKMVQIP FSMKNLKINF KKQNKVDLEE
KDEPCLIHNL RFPDAWLMTS KTEVMLLNPY RVEEALLFKR LLENHKLPAE PLEKPIMLTE
SLFNGSHYLD VLYKMTADDQ RYSGSTYLSD PRLTANGFKI KLIPGVSITE NYLEIEGMAN
CLPFYGVADL KEILNAILNR NAKEVYECRP RKVISYLEGE AVRLSRQLPM YLSKEDIQDI
IYRMKHQFGN EIKECVHGRP FFHHLTYLPE TT