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    Pms1 PMS1 homolog 1, mismatch repair system component [ Mus musculus (house mouse) ]

    Gene ID: 227099, updated on 27-Nov-2024

    Summary

    Official Symbol
    Pms1provided by MGI
    Official Full Name
    PMS1 homolog 1, mismatch repair system componentprovided by MGI
    Primary source
    MGI:MGI:1202302
    See related
    Ensembl:ENSMUSG00000026098 AllianceGenome:MGI:1202302
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Summary
    Predicted to enable ATP hydrolysis activity and enzyme binding activity. Acts upstream of or within mismatch repair. Predicted to be located in nucleus. Predicted to be part of MutLalpha complex. Is expressed in several structures, including central nervous system; early conceptus; genitourinary system; gut; and respiratory system. Human ortholog(s) of this gene implicated in Lynch syndrome; dermatomyositis; pancreatic ductal carcinoma; and polymyositis. Orthologous to human PMS1 (PMS1 homolog 1, mismatch repair system component). [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Broad expression in CNS E11.5 (RPKM 3.0), liver E14 (RPKM 1.8) and 23 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See Pms1 in Genome Data Viewer
    Location:
    1 C1.1; 1 26.99 cM
    Exon count:
    16
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 1 NC_000067.7 (53225794..53336190, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 1 NC_000067.6 (53189187..53297031, complement)

    Chromosome 1 - NC_000067.7Genomic Context describing neighboring genes Neighboring gene myostatin Neighboring gene STARR-seq mESC enhancer starr_00910 Neighboring gene predicted gene, 24349 Neighboring gene RIKEN cDNA 1700019A02 gene Neighboring gene STARR-seq mESC enhancer starr_00911 Neighboring gene predicted gene 28777 Neighboring gene CapStarr-seq enhancer MGSCv37_chr1:53370474-53370583 Neighboring gene ORM1-like 1 (S. cerevisiae) Neighboring gene O-sialoglycoprotein endopeptidase-like 1 Neighboring gene ankyrin and armadillo repeat containing pseudogene

    Genomic regions, transcripts, and products

    Expression

    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Variation

    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (1) 
    • Targeted (3)  1 citation

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Clone Names

    • MGC36491

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables ATP hydrolysis activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables enzyme binding ISO
    Inferred from Sequence Orthology
    more info
     
    Process Evidence Code Pubs
    involved_in mismatch repair IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    acts_upstream_of_or_within mismatch repair IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    part_of MutLalpha complex IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in nucleus ISO
    Inferred from Sequence Orthology
    more info
     

    General protein information

    Preferred Names
    PMS1 protein homolog 1
    Names
    postmeiotic segregation increased 1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_153556.2NP_705784.1  PMS1 protein homolog 1

      See identical proteins and their annotated locations for NP_705784.1

      Status: VALIDATED

      Source sequence(s)
      BC028939, CJ056105
      Consensus CDS
      CCDS14951.1
      UniProtKB/TrEMBL
      Q8K119
      Related
      ENSMUSP00000027267.8, ENSMUST00000027267.14
      Conserved Domains (3) summary
      COG5648
      Location:559708
      NHP6B; Chromatin-associated proteins containing the HMG domain [Chromatin structure and dynamics]
      cd01390
      Location:559623
      HMGB-UBF_HMG-box; class II and III members of the HMG-box superfamily of DNA-binding proteins. These proteins bind the minor groove of DNA in a non-sequence specific fashion and contain two or more tandem HMG boxes. Class II members include non-histone chromosomal ...
      TIGR00585
      Location:1318
      mutl; DNA mismatch repair protein MutL

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000067.7 Reference GRCm39 C57BL/6J

      Range
      53225794..53336190 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006495942.5XP_006496005.1  PMS1 protein homolog 1 isoform X1

      See identical proteins and their annotated locations for XP_006496005.1

      UniProtKB/TrEMBL
      Q8K119
      Conserved Domains (3) summary
      COG5648
      Location:559708
      NHP6B; Chromatin-associated proteins containing the HMG domain [Chromatin structure and dynamics]
      cd01390
      Location:559623
      HMGB-UBF_HMG-box; class II and III members of the HMG-box superfamily of DNA-binding proteins. These proteins bind the minor groove of DNA in a non-sequence specific fashion and contain two or more tandem HMG boxes. Class II members include non-histone chromosomal ...
      TIGR00585
      Location:1318
      mutl; DNA mismatch repair protein MutL
    2. XM_006495938.5XP_006496001.1  PMS1 protein homolog 1 isoform X1

      See identical proteins and their annotated locations for XP_006496001.1

      UniProtKB/TrEMBL
      Q8K119
      Conserved Domains (3) summary
      COG5648
      Location:559708
      NHP6B; Chromatin-associated proteins containing the HMG domain [Chromatin structure and dynamics]
      cd01390
      Location:559623
      HMGB-UBF_HMG-box; class II and III members of the HMG-box superfamily of DNA-binding proteins. These proteins bind the minor groove of DNA in a non-sequence specific fashion and contain two or more tandem HMG boxes. Class II members include non-histone chromosomal ...
      TIGR00585
      Location:1318
      mutl; DNA mismatch repair protein MutL
    3. XM_006495939.5XP_006496002.1  PMS1 protein homolog 1 isoform X1

      See identical proteins and their annotated locations for XP_006496002.1

      UniProtKB/TrEMBL
      Q8K119
      Conserved Domains (3) summary
      COG5648
      Location:559708
      NHP6B; Chromatin-associated proteins containing the HMG domain [Chromatin structure and dynamics]
      cd01390
      Location:559623
      HMGB-UBF_HMG-box; class II and III members of the HMG-box superfamily of DNA-binding proteins. These proteins bind the minor groove of DNA in a non-sequence specific fashion and contain two or more tandem HMG boxes. Class II members include non-histone chromosomal ...
      TIGR00585
      Location:1318
      mutl; DNA mismatch repair protein MutL
    4. XM_011238497.4XP_011236799.1  PMS1 protein homolog 1 isoform X1

      See identical proteins and their annotated locations for XP_011236799.1

      UniProtKB/TrEMBL
      Q8K119
      Conserved Domains (3) summary
      COG5648
      Location:559708
      NHP6B; Chromatin-associated proteins containing the HMG domain [Chromatin structure and dynamics]
      cd01390
      Location:559623
      HMGB-UBF_HMG-box; class II and III members of the HMG-box superfamily of DNA-binding proteins. These proteins bind the minor groove of DNA in a non-sequence specific fashion and contain two or more tandem HMG boxes. Class II members include non-histone chromosomal ...
      TIGR00585
      Location:1318
      mutl; DNA mismatch repair protein MutL
    5. XM_036164396.1XP_036020289.1  PMS1 protein homolog 1 isoform X4

      Conserved Domains (2) summary
      COG5648
      Location:227376
      NHP6B; Chromatin-associated proteins containing the HMG domain [Chromatin structure and dynamics]
      cd01390
      Location:227291
      HMGB-UBF_HMG-box; class II and III members of the HMG-box superfamily of DNA-binding proteins. These proteins bind the minor groove of DNA in a non-sequence specific fashion and contain two or more tandem HMG boxes. Class II members include non-histone chromosomal ...
    6. XM_006495941.5XP_006496004.1  PMS1 protein homolog 1 isoform X1

      See identical proteins and their annotated locations for XP_006496004.1

      UniProtKB/TrEMBL
      Q8K119
      Conserved Domains (3) summary
      COG5648
      Location:559708
      NHP6B; Chromatin-associated proteins containing the HMG domain [Chromatin structure and dynamics]
      cd01390
      Location:559623
      HMGB-UBF_HMG-box; class II and III members of the HMG-box superfamily of DNA-binding proteins. These proteins bind the minor groove of DNA in a non-sequence specific fashion and contain two or more tandem HMG boxes. Class II members include non-histone chromosomal ...
      TIGR00585
      Location:1318
      mutl; DNA mismatch repair protein MutL
    7. XM_006495944.5XP_006496007.1  PMS1 protein homolog 1 isoform X2

      See identical proteins and their annotated locations for XP_006496007.1

      Conserved Domains (3) summary
      COG5648
      Location:381530
      NHP6B; Chromatin-associated proteins containing the HMG domain [Chromatin structure and dynamics]
      cd01390
      Location:381445
      HMGB-UBF_HMG-box; class II and III members of the HMG-box superfamily of DNA-binding proteins. These proteins bind the minor groove of DNA in a non-sequence specific fashion and contain two or more tandem HMG boxes. Class II members include non-histone chromosomal ...
      cd03485
      Location:27160
      MutL_Trans_hPMS_1_like; MutL_Trans_hPMS1_like: transducer domain, having a ribosomal S5 domain 2-like fold, found in proteins similar to human PSM1 (hPSM1) and yeast MLH2. hPSM1 and yMLH2 are members of the DNA mismatch repair (MutL/MLH1/PMS2) family. This transducer domain is ...
    8. XM_036164395.1XP_036020288.1  PMS1 protein homolog 1 isoform X3

      Conserved Domains (3) summary
      COG5648
      Location:352501
      NHP6B; Chromatin-associated proteins containing the HMG domain [Chromatin structure and dynamics]
      cd01390
      Location:352416
      HMGB-UBF_HMG-box; class II and III members of the HMG-box superfamily of DNA-binding proteins. These proteins bind the minor groove of DNA in a non-sequence specific fashion and contain two or more tandem HMG boxes. Class II members include non-histone chromosomal ...
      cd03485
      Location:1131
      MutL_Trans_hPMS_1_like; MutL_Trans_hPMS1_like: transducer domain, having a ribosomal S5 domain 2-like fold, found in proteins similar to human PSM1 (hPSM1) and yeast MLH2. hPSM1 and yMLH2 are members of the DNA mismatch repair (MutL/MLH1/PMS2) family. This transducer domain is ...
    9. XM_006495943.5XP_006496006.1  PMS1 protein homolog 1 isoform X2

      See identical proteins and their annotated locations for XP_006496006.1

      Conserved Domains (3) summary
      COG5648
      Location:381530
      NHP6B; Chromatin-associated proteins containing the HMG domain [Chromatin structure and dynamics]
      cd01390
      Location:381445
      HMGB-UBF_HMG-box; class II and III members of the HMG-box superfamily of DNA-binding proteins. These proteins bind the minor groove of DNA in a non-sequence specific fashion and contain two or more tandem HMG boxes. Class II members include non-histone chromosomal ...
      cd03485
      Location:27160
      MutL_Trans_hPMS_1_like; MutL_Trans_hPMS1_like: transducer domain, having a ribosomal S5 domain 2-like fold, found in proteins similar to human PSM1 (hPSM1) and yeast MLH2. hPSM1 and yMLH2 are members of the DNA mismatch repair (MutL/MLH1/PMS2) family. This transducer domain is ...