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Protein Page:
PMS1 (human)
p Phosphorylation
ac Acetylation
me Methylation
m1 Mono-methylation
m2 Di-methylation
m3 Tri-methylation
ub Ubiquitination
sm Sumoylation
ne Neddylation
gl O-GlcNAc
ga O-GalNAc
pa Palmitoylation
ad Adenylylation
sn S-Nitrosylation
ca Caspase cleavage
sc Succinylation

Overview
PMS1 Probably involved in the repair of mismatches in DNA. Defects in PMS1 are the cause of hereditary non-polyposis colorectal cancer type 3 (HNPCC3). 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. Belongs to the DNA mismatch repair MutL/HexB family. 3 isoforms of the human protein are produced by alternative splicing. Note: This description may include information from UniProtKB.
Protein type: DNA repair, damage
Cellular Component: MutLalpha complex; nucleus
Molecular Function: DNA binding; ATPase activity; single-stranded DNA binding; ATP binding; mismatched DNA binding
Biological Process: ATP catabolic process; response to drug; mismatch repair
Reference #:  P54277 (UniProtKB)
Alt. Names/Synonyms: DKFZp781M0253; DNA mismatch repair protein PMS1; FLJ98259; HNPCC3; hPMS1; human homolog of yeast mutL; mismatch repair gene PMSL1; PMS1; PMS1 postmeiotic segregation increased 1 (S. cerevisiae); PMS1 protein homolog 1; PMSL1; rhabdomyosarcoma antigen MU-RMS-40.10B; rhabdomyosarcoma antigen MU-RMS-40.10E
Gene Symbols: PMS1
Molecular weight: 105,830 Da
Basal Isoelectric point: 6.23  Predict pI for various phosphorylation states
Select Structure to View Below

PMS1

Protein Structure Not Found.


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Modification Sites and Domains Show Modification Legend
Click here to view phosphorylation modifications only

Modification Sites in Parent Protein, Orthologs, and Isoforms Show Modification Legend
 

Show Multiple Sequence Alignment


 SS 

SS: The number of records in which this modification site was determined using site-specific methods. SS methods include amino acid sequencing, site-directed mutagenesis, modification site-specific antibodies, specific MS strategies, etc.


 MS 

MS: The number of records in which this modification site was assigned using ONLY proteomic discovery-mode mass spectrometry.


       human

► Hide Isoforms
 
0 1 T8-p MKQLPAAtVRLLssS
0 1 S13-p AAtVRLLssSQIITS
0 1 S14-p AtVRLLssSQIITSV
0 1 K43-ub GATSVDVkLENYGFD
0 2 K51-ub LENYGFDkIEVRDNG
0 1 S204-p IWQKSRVsDHKMALM
0 1 Y280-p LKLIRHHyNLKCLKE
0 1 K362-ub AADIVLSkTAETDVL
0 4 Y563-p KSGKVTAyDLLSNRV
0 2 Y620-p SEEEKLKyEEKATKD
0 1 S673-p HKLKTSLsNQPKLDE
0 1 K688-ub LLQSQIEkRRSQNIK
0 2 T806-p DQRYSGStyLsDPRL
0 1 Y807-p QRYSGStyLsDPRLT
0 2 S809-p YSGStyLsDPRLTAN
0 1 K821 TANGFKIKLIPGVSI
0 2 K863-ac AILNRNAkEVYECRP
0 1 S875-p CRPRKVIsYLEGEAV
0 1 S885-p EGEAVRLsRQLPMyL
0 1 Y891-p LsRQLPMyLskEDIQ
0 1 S893-p RQLPMyLskEDIQDI
0 1 K894-ac QLPMyLskEDIQDII
0 1 K894-ub QLPMyLskEDIQDII
0 1 K905-ac QDIIYRMkHQFGNEI
  PMS1 iso4  
- gap
- gap
- gap
- gap
- gap
- gap
Y65 LKLIRHHYNLKCLKE
K147 AADIVLSKTAETDVL
Y348 KSGKVTAYDLLSNRV
- gap
- under review  
- gap
T429 DQRYSGSTYLSDPRL
Y430 QRYSGSTYLSDPRLT
S432 YSGSTYLSDPRLTAN
K444 TANGFKIKLIPGVSI
K486 AILNRNAKEVYECRP
S498 CRPRKVISYLEGEAV
S508 EGEAVRLSRQLPMYL
Y514 LSRQLPMYLSKEDIQ
S516 RQLPMYLSKEDIQDI
K517 QLPMYLSKEDIQDII
K517 QLPMYLSKEDIQDII
K528 QDIIYRMKHQFGNEI
  mouse

 
T8 MKQLPAATVRLLSSS
S13 AATVRLLSSSQTITS
S14 ATVRLLSSSQTITSV
K43 GATSIEVKLENYGFD
K51 LENYGFDKIEIRDNG
P204 IWQKSRVPDHRMALM
Y280 LKLIRRYYNLKCLKE
Q362 SANMVVSQTAETDVL
Y550 RSGRLTAYDLISSRA
Y607 SEEEKHKYEEKAKKD
S658 KHKVKDSSNQPKLDE
K673 LFQSQNEKKKSENIK
A791 EERGSGSAYLCDPRL
Y792 ERGSGSAYLCDPRLT
C794 GSGSAYLCDPRLTAN
R806-m1 TANGFKIrLTPGVSS
K848 AIVNKNAKEIYECRP
N860 CRPRKVINYLEGEAV
S870 EGEAVRLSRQLPMYL
Y876 LSRQLPMYLPREDVQ
P878 RQLPMYLPREDVQDL
R879 QLPMYLPREDVQDLI
R879 QLPMYLPREDVQDLI
K890 QDLIYRMKHQFGKEI
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