Homo sapiens L. (human) [HSA]

FULL NAME: PMS1 protein homolog 1


DESCRIPTION:
Probably involved in the repair of mismatches in DNA.

STRUCTURE SIMILARITY:
Belongs to the DNA mismatch repair mutL/hexB family.
Contains 1 HMG box DNA-binding domain.


RELATED DISEASE(S):
COLORECTAL CANCER
hereditary non-polyposis colorectal cancer, TYPE 3


Amino acids sequence

        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  

Encoded by PMS1 gene

FULL NAME: PMS1 postmeiotic segregation increased 1 (S. cerevisiae)


OTHER NAME(S):
MISMATCH REPAIR GENE PMSL1
DKFZp781M0253
FLJ98259
HNPCC3
PMSL1
hPMS1


DESCRIPTION:
This gene encodes a protein belonging to the DNA mismatch repair mutL/hexB family. This protein is thought to be involved in the repair of DNA mismatches, and it can form heterodimers with MLH1, a known DNA mismatch repair protein. Mutations in this gene cause hereditary nonpolyposis colorectal cancer type 3 (HNPCC3) either alone or in combination with mutations in other genes involved in the HNPCC phenotype, which is also known as Lynch syndrome. [provided by RefSeq, Jul 2008]


Nucleic acid sequence

        10         20         30         40         50         60
atgaaacaat tgcctgcggc aacagttcga ctcctttcaa gttctcagat catcacttcg
        70         80         90        100        110        120
gtggtcagtg ttgtaaaaga gcttattgaa aactccttgg atgctggtgc cacaagcgta
       130        140        150        160        170        180
gatgttaaac tggagaacta tggatttgat aaaattgagg tgcgagataa cggggagggt
       190        200        210        220        230        240
atcaaggctg ttgatgcacc tgtaatggca atgaagtact acacctcaaa aataaatagt
       250        260        270        280        290        300
catgaagatc ttgaaaattt gacaacttac ggttttcgtg gagaagcctt ggggtcaatt
       310        320        330        340        350        360
tgttgtatag ctgaggtttt aattacaaca agaacggctg ctgataattt tagcacccag
       370        380        390        400        410        420
tatgttttag atggcagtgg ccacatactt tctcagaaac cttcacatct tggtcaaggt
       430        440        450        460        470        480
acaactgtaa ctgctttaag attatttaag aatctacctg taagaaagca gttttactca
       490        500        510        520        530        540
actgcaaaaa aatgtaaaga tgaaataaaa aagatccaag atctcctcat gagctttggt
       550        560        570        580        590        600
atccttaaac ctgacttaag gattgtcttt gtacataaca aggcagttat ttggcagaaa
       610        620        630        640        650        660
agcagagtat cagatcacaa gatggctctc atgtcagttc tggggactgc tgttatgaac
       670        680        690        700        710        720
aatatggaat cctttcagta ccactctgaa gaatctcaga tttatctcag tggatttctt
       730        740        750        760        770        780
ccaaagtgtg atgcagacca ctctttcact agtctttcaa caccagaaag aagtttcatc
       790        800        810        820        830        840
ttcataaaca gtcgaccagt acatcaaaaa gatatcttaa agttaatccg acatcattac
       850        860        870        880        890        900
aatctgaaat gcctaaagga atctactcgt ttgtatcctg ttttctttct gaaaatcgat
       910        920        930        940        950        960
gttcctacag ctgatgttga tgtaaattta acaccagata aaagccaagt attattacaa
       970        980        990       1000       1010       1020
aataaggaat ctgttttaat tgctcttgaa aatctgatga cgacttgtta tggaccatta
      1030       1040       1050       1060       1070       1080
cctagtacaa attcttatga aaataataaa acagatgttt ccgcagctga catcgttctt
      1090       1100       1110       1120       1130       1140
agtaaaacag cagaaacaga tgtgcttttt aataaagtgg aatcatctgg aaagaattat
      1150       1160       1170       1180       1190       1200
tcaaatgttg atacttcagt cattccattc caaaatgata tgcataatga tgaatctgga
      1210       1220       1230       1240       1250       1260
aaaaacactg atgattgttt aaatcaccag ataagtattg gtgactttgg ttatggtcat
      1270       1280       1290       1300       1310       1320
tgtagtagtg aaatttctaa cattgataaa aacactaaga atgcatttca ggacatttca
      1330       1340       1350       1360       1370       1380
atgagtaatg tatcatggga gaactctcag acggaatata gtaaaacttg ttttataagt
      1390       1400       1410       1420       1430       1440
tccgttaagc acacccagtc agaaaatggc aataaagacc atatagatga gagtggggaa
      1450       1460       1470       1480       1490       1500
aatgaggaag aagcaggtct tgaaaactct tcggaaattt ctgcagatga gtggagcagg
      1510       1520       1530       1540       1550       1560
ggaaatatac ttaaaaattc agtgggagag aatattgaac ctgtgaaaat tttagtgcct
      1570       1580       1590       1600       1610       1620
gaaaaaagtt taccatgtaa agtaagtaat aataattatc caatccctga acaaatgaat
      1630       1640       1650       1660       1670       1680
cttaatgaag attcatgtaa caaaaaatca aatgtaatag ataataaatc tggaaaagtt
      1690       1700       1710       1720       1730       1740
acagcttatg atttacttag caatcgagta atcaagaaac ccatgtcagc aagtgctctt
      1750       1760       1770       1780       1790       1800
tttgttcaag atcatcgtcc tcagtttctc atagaaaatc ctaagactag tttagaggat
      1810       1820       1830       1840       1850       1860
gcaacactac aaattgaaga actgtggaag acattgagtg aagaggaaaa actgaaatat
      1870       1880       1890       1900       1910       1920
gaagagaagg ctactaaaga cttggaacga tacaatagtc aaatgaagag agccattgaa
      1930       1940       1950       1960       1970       1980
caggagtcac aaatgtcact aaaagatggc agaaaaaaga taaaacccac cagcgcatgg
      1990       2000       2010       2020       2030       2040
aatttggccc agaagcacaa gttaaaaacc tcattatcta atcaaccaaa acttgatgaa
      2050       2060       2070       2080       2090       2100
ctccttcagt cccaaattga aaaaagaagg agtcaaaata ttaaaatggt acagatcccc
      2110       2120       2130       2140       2150       2160
ttttctatga aaaacttaaa aataaatttt aagaaacaaa acaaagttga cttagaagag
      2170       2180       2190       2200       2210       2220
aaggatgaac cttgcttgat ccacaatctc aggtttcctg atgcatggct aatgacatcc
      2230       2240       2250       2260       2270       2280
aaaacagagg taatgttatt aaatccatat agagtagaag aagccctgct atttaaaaga
      2290       2300       2310       2320       2330       2340
cttcttgaga atcataaact tcctgcagag ccactggaaa agccaattat gttaacagag
      2350       2360       2370       2380       2390       2400
agtcttttta atggatctca ttatttagac gttttatata aaatgacagc agatgaccaa
      2410       2420       2430       2440       2450       2460
agatacagtg gatcaactta cctgtctgat cctcgtctta cagcgaatgg tttcaagata
      2470       2480       2490       2500       2510       2520
aaattgatac caggagtttc aattactgaa aattacttgg aaatagaagg aatggctaat
      2530       2540       2550       2560       2570       2580
tgtctcccat tctatggagt agcagattta aaagaaattc ttaatgctat attaaacaga
      2590       2600       2610       2620       2630       2640
aatgcaaagg aagtttatga atgtagacct cgcaaagtga taagttattt agagggagaa
      2650       2660       2670       2680       2690       2700
gcagtgcgtc tatccagaca attacccatg tacttatcaa aagaggacat ccaagacatt
      2710       2720       2730       2740       2750       2760
atctacagaa tgaagcacca gtttggaaat gaaattaaag agtgtgttca tggtcgccca
      2770       2780       2790
ttttttcatc atttaaccta tcttccagaa actacatga  

Last modification date: Oct. 2, 2011