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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
    Physical map
    LEREPO4 2q32.2 likely ortholog of mouse immediate early response, erythropoietin 4 ITGAV 2q31-q32.1 integrin, alpha V (vitronectin receptor, alpha polypeptide, antigen CD51) KIAA1946 2q32.2 KIAA1946 protein ZSWIM2 2q32.2 zinc finger, SWIM domain containing 2 LOC391467 2 similar to Inosine-5-monophosphate dehydrogenase 1 (IMP dehydrogenase 1) (IMPDH-I) (IMPD 1) CALCRL 2q31.3 calcitonin receptor-like TFPI 2q31-q32.1 tissue factor pathway inhibitor (lipoprotein-associated coagulation inhibitor) LOC344328 2q32.2 similar to heat shock 70kD protein binding protein; progesterone receptor-associated p48 protein; putative tumor suppressor ST13; Hsp70-interacting protein CED-6 2q32.3-q33 similar to heat shock 70kD protein binding protein; progesterone receptor-associated p48 protein; putative tumor suppressor ST13; Hsp70-interacting protein DIRC1 2q33 disrupted in renal carcinoma 1 COL3A1 2q32.2 collagen, type III, alpha 1 (Ehlers-Danlos syndrome type IV, autosomal dominant) COL5A2 2q24.3-q31 collagen, type V, alpha 2 LOC339781 2q32.3 similar to Keratin, type I cytoskeletal 18 (Cytokeratin 18) (K18) (CK 18) FLJ12519 2q32.3 hypothetical protein FLJ12519 SLC40A1 2q32 solute carrier family 40 (iron-regulated transporter), member 1 NS3TP1 2p24.3-q21.3 HCV NS3-transactivated protein 1 FLJ25415 2q32.3 hypothetical protein FLJ25415 OSGEPL1 2q32 O-sialoglycoprotein endopeptidase-like 1 LOC51240 2q32.3 hypothetical protein LOC51240 PMS1 2q31.1 PMS1 postmeiotic segregation increased 1 (S. cerevisiae) LOC285011 2q32.3 similar to HNRPC protein GDF8 2q32.2 growth differentiation factor 8 MGC13057 2q32.3 hypothetical protein MGC13057 HIBCH 2q32.3 3-hydroxyisobutyryl-Coenzyme A hydrolase INPP1 2q32 inositol polyphosphate-1-phosphatase FLJ20160 2q32.3 FLJ20160 protein LOC391468 2 similar to Hypothetical protein KIAA0286 (HA6800) NAB1 2q32.3-q33 NGFI-A binding protein 1 (EGR1 binding protein 1) GLS 2q32-q34 glutaminase STAT1 2q32.2-q32.3 signal transducer and activator of transcription 1, 91kDa STAT4 2q32.2-q32.3 signal transducer and activator of transcription 4 MYO1B 2q12-q34 myosin IB FLJ22833 2q32.3 hypothetical protein FLJ22833 SDPR 2q32-q33 serum deprivation response (phosphatidylserine binding protein) HSP40 2q32.3 HSP40 pseudogene TMEFF2 2q32.3-q33 transmembrane protein with EGF-like and two follistatin-like domains 2
    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