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    Fermt1 fermitin family member 1 [ Mus musculus (house mouse) ]

    Gene ID: 241639, updated on 27-Nov-2024

    Summary

    Official Symbol
    Fermt1provided by MGI
    Official Full Name
    fermitin family member 1provided by MGI
    Primary source
    MGI:MGI:2443583
    See related
    Ensembl:ENSMUSG00000027356 AllianceGenome:MGI:2443583
    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
    Also known as
    Kindlin-1; 5830467P10Rik
    Summary
    Enables actin filament binding activity. Involved in several processes, including positive regulation of cell adhesion; regulation of gene expression; and regulation of signal transduction. Located in focal adhesion. Is expressed in several structures, including alimentary system; genitourinary system; immune system; lung; and skin. Used to study Kindler syndrome. Human ortholog(s) of this gene implicated in Kindler syndrome; telangiectasis; and vesiculobullous skin disease. Orthologous to human FERMT1 (FERM domain containing kindlin 1). [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Biased expression in colon adult (RPKM 15.9), large intestine adult (RPKM 8.3) and 11 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See Fermt1 in Genome Data Viewer
    Location:
    2 F2; 2 64.8 cM
    Exon count:
    15
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 2 NC_000068.8 (132746097..132787956, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 2 NC_000068.7 (132904177..132946036, complement)

    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

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Variation

    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (2) 
    • Targeted (2)  1 citation

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables actin filament binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables integrin binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    Process Evidence Code Pubs
    involved_in basement membrane organization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in cell adhesion ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in cell adhesion ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in cell-matrix adhesion IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in establishment of epithelial cell polarity ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in establishment of epithelial cell polarity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in integrin-mediated signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in keratinocyte migration ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in keratinocyte migration ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in keratinocyte proliferation ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in keratinocyte proliferation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in negative regulation of canonical Wnt signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in negative regulation of gene expression IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in negative regulation of protein import into nucleus IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in negative regulation of stem cell proliferation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in negative regulation of timing of anagen IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of cell adhesion mediated by integrin IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of cell-matrix adhesion IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of integrin activation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of integrin activation ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in positive regulation of transforming growth factor beta production IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of transforming growth factor beta receptor signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of wound healing, spreading of epidermal cells IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of wound healing, spreading of epidermal cells ISO
    Inferred from Sequence Orthology
    more info
     
    Component Evidence Code Pubs
    located_in cell junction ISO
    Inferred from Sequence Orthology
    more info
     
    located_in cell junction ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in cell periphery ISO
    Inferred from Sequence Orthology
    more info
     
    located_in cytoplasm ISO
    Inferred from Sequence Orthology
    more info
     
    located_in cytoskeleton IEA
    Inferred from Electronic Annotation
    more info
     
    located_in cytosol ISO
    Inferred from Sequence Orthology
    more info
     
    located_in cytosol ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    is_active_in focal adhesion IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in focal adhesion IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in focal adhesion ISO
    Inferred from Sequence Orthology
    more info
     
    located_in ruffle membrane IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    fermitin family homolog 1
    Names
    unc-112-related protein 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_198029.2NP_932146.2  fermitin family homolog 1

      See identical proteins and their annotated locations for NP_932146.2

      Status: VALIDATED

      Source sequence(s)
      AK030947, AK050804, AL831763
      Consensus CDS
      CCDS38248.1
      UniProtKB/Swiss-Prot
      A2ANX1, P59113, Q8BQG6
      Related
      ENSMUSP00000047616.5, ENSMUST00000038280.5
      Conserved Domains (5) summary
      smart00295
      Location:250322
      B41; Band 4.1 homologues
      cd01237
      Location:370494
      PH_fermitin; Fermitin family pleckstrin homology (PH) domain
      cd13205
      Location:564655
      FERM_C_fermitin; FERM domain C-lobe of the Fermitin family
      pfam00169
      Location:378473
      PH; PH domain
      pfam00373
      Location:515570
      FERM_M; FERM central domain

    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_000068.8 Reference GRCm39 C57BL/6J

      Range
      132746097..132787956 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006499507.1XP_006499570.1  fermitin family homolog 1 isoform X1

      UniProtKB/TrEMBL
      Q4W4Z0
      Conserved Domains (5) summary
      smart00295
      Location:155227
      B41; Band 4.1 homologues
      cd01237
      Location:275399
      PH_fermitin; Fermitin family pleckstrin homology (PH) domain
      cd13205
      Location:469560
      FERM_C_fermitin; FERM domain C-lobe of the Fermitin family
      pfam00373
      Location:419475
      FERM_M; FERM central domain
      cl28922
      Location:1180
      Ubiquitin_like_fold; Beta-grasp ubiquitin-like fold