PMS1

Protein identityUniProt · HPA

UniProt accession

P54277

Gene

PMS1

Ensembl

ENSG00000064933

Chromosome

2

Canonical length

932 aa

Protein class

Predicted intracellular proteins

Subcellular location

Nucleoplasm,Nuclear bodies

OverviewNCBI Gene

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]

Canonical amino-acid sequenceUniProt

932 residues, UniProt reviewed canonical sequence.

>P54277|PMS1
     1  MKQLPAATVR LLSSSQIITS VVSVVKELIE NSLDAGATSV DVKLENYGFD KIEVRDNGEG
    61  IKAVDAPVMA MKYYTSKINS HEDLENLTTY GFRGEALGSI CCIAEVLITT RTAADNFSTQ
   121  YVLDGSGHIL SQKPSHLGQG TTVTALRLFK NLPVRKQFYS TAKKCKDEIK KIQDLLMSFG
   181  ILKPDLRIVF VHNKAVIWQK SRVSDHKMAL MSVLGTAVMN NMESFQYHSE ESQIYLSGFL
   241  PKCDADHSFT SLSTPERSFI FINSRPVHQK DILKLIRHHY NLKCLKESTR LYPVFFLKID
   301  VPTADVDVNL TPDKSQVLLQ NKESVLIALE NLMTTCYGPL PSTNSYENNK TDVSAADIVL
   361  SKTAETDVLF NKVESSGKNY SNVDTSVIPF QNDMHNDESG KNTDDCLNHQ ISIGDFGYGH
   421  CSSEISNIDK NTKNAFQDIS MSNVSWENSQ TEYSKTCFIS SVKHTQSENG NKDHIDESGE
   481  NEEEAGLENS SEISADEWSR GNILKNSVGE NIEPVKILVP EKSLPCKVSN NNYPIPEQMN
   541  LNEDSCNKKS NVIDNKSGKV TAYDLLSNRV IKKPMSASAL FVQDHRPQFL IENPKTSLED
   601  ATLQIEELWK TLSEEEKLKY EEKATKDLER YNSQMKRAIE QESQMSLKDG RKKIKPTSAW
   661  NLAQKHKLKT SLSNQPKLDE LLQSQIEKRR SQNIKMVQIP FSMKNLKINF KKQNKVDLEE
   721  KDEPCLIHNL RFPDAWLMTS KTEVMLLNPY RVEEALLFKR LLENHKLPAE PLEKPIMLTE
   781  SLFNGSHYLD VLYKMTADDQ RYSGSTYLSD PRLTANGFKI KLIPGVSITE NYLEIEGMAN
   841  CLPFYGVADL KEILNAILNR NAKEVYECRP RKVISYLEGE AVRLSRQLPM YLSKEDIQDI
   901  IYRMKHQFGN EIKECVHGRP FFHHLTYLPE TT

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against PMS1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Intracellular

Secreted

No

Transmembrane segments

0

Mean surface accessibility (rSASA)

0.4

Highest tissue expression

45 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about PMS1.

Disease | GeneticClinVar

6 pathogenic / likely-pathogenic of 187 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Ovarian cancer
• Lynch syndrome 4
• See cases
• Colorectal cancer

ReferencesPubMed · IEDB

Publications for PMS1 from three distinct lines of evidence, kept separate because they answer different questions: whether antibodies are directed at the protein, whether a B-cell epitope has been mapped on it, and whether a T-cell epitope has. Each is labelled with its source.

Sources: PubMed — antigen-level antibody evidence from a custom retrieval. Records matching a controlled set of autoantibody terms (the MeSH descriptors Autoantibodies and Autoantigens, with title and abstract term variants) were obtained through NCBI E-utilities, and their titles and abstracts parsed for constructions that direct an antibody at a named protein rather than for co-occurrence. Captured names were resolved against UniProt nomenclature and each antigen adjudicated individually against the source text. Bibliographic records from PubMed and MeSH, U.S. National Library of Medicine; citation metrics from NIH iCite (Hutchins et al., PLoS Biology 2016). Titles link to PubMed; abstracts are not reproduced here. The NLM does not endorse this analysis.

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

1.01

gnomAD pLI

0

gnomAD missense Z

0.62

DepMap mean gene effect

0.01

DepMap dependency class

none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 6% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• mismatch repair
• response to xenobiotic stimulus

Molecular functions

• ATP binding
• ATP hydrolysis activity
• ATP-dependent DNA damage sensor activity
• DNA binding
• enzyme binding
• mismatched DNA binding

Cellular components

• MutLalpha complex
• nucleus

Protein domainsUniProt · Pfam · InterPro

• DNA mismatch repair protein MutL/Mlh/PMS
• High mobility group box domain
• DNA mismatch repair protein, S5 domain 2-like
• Small ribosomal subunit protein uS5 domain 2-type fold, subgroup
• DNA mismatch repair, conserved site
• Ribosomal protein uS5 domain 2-type superfamily
• Histidine kinase/HSP90-like ATPase superfamily
• High mobility group box domain superfamily
• DNA mismatch repair protein MutL/Mlh/Pms-like
• HMG (high mobility group) box
• DNA mismatch repair protein, C-terminal domain
• Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase

KeywordsUniProt

• DNA damage
• DNA repair
• DNA-binding
• Hereditary nonpolyposis colorectal cancer
• Nucleus
• Tumor suppressor

InteractionsUniProt · HPA

Protein binding partners of PMS1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• MCM9
• MLH1