Selected-GenAtlas references SOURCE GeneCards NCBI Gene Swiss-Prot Orphanet Ensembl
HGNC UniGene Nucleotide OMIM UCSC
Home Page
FLASH GENE
Symbol PMS1 contributors: np/ - updated : 19-05-2006
HGNC name PMS1 postmeiotic segregation increased 1 (S. cerevisiae)
HGNC id 9121
Corresponding disease
HNPCC3 hereditary non polyposis colorectal cancer, type 3
Location 2q32.2      Physical location : 190.648.810 - 190.742.354
Synonym name
  • DNA mismatch repair protein PMS1
  • rhabdomyosarcoma antigen MU-RMS-40.10B
  • PMS1 protein homolog 1
  • mismatch repair gene PMSL1
  • human homolog of yeast mutL
  • Synonym symbol(s) PMSL1, HNPCC3, FLJ98259, DKFZp781M0253
    DNA
    TYPE functioning gene
    STRUCTURE 93.55 kb     13 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked   status confirmed
    Map cen - D2S152 - PMS1 - D2S118 - D2S117 - qter
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    13 - 3538 - 932 - -
    12 - 3421 - 893 - -
    12 - 3052 - 770 - -
    EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestiveintestine    
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Epithelialabsorptive excretorydigestive epithelium  
    Epithelialbarrier/lininguroepithelium  
    Epithelialsecretoryglandularexocrine 
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • a region of homology with other MutS or MutL homologs, comprising a region of 150 aminoacids
  • a putative helix-turn-helix domain
  • an adenine nucleotide and magnesium binding sites
  • mono polymer heteromer , dimer
    HOMOLOGY
    interspecies homolog to yeast mutator gene (bacterial mutL)
    Homologene
    FAMILY
  • DNA mismatch repair mutL/hexB family
  • CATEGORY DNA associated
    SUBCELLULAR LOCALIZATION
    basic FUNCTION
  • correctin of base-base mismatches and insertion-deletion loops resulting from DNA replication and recombination events
  • possessing an intrinsic low-level ATPase actvity
  • CELLULAR PROCESS cell cycle,division,meiosis
    nucleotide, repair, mismatch repair
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • heterodimerizing with MLH1 and MLH2
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • MLH1
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) HNPCC3
    related resource Internationa lGroup on Hereditary Non-Polyposis Colorectal Cancer
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS