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    FERMT1 FERM domain containing kindlin 1 [ Homo sapiens (human) ]

    Gene ID: 55612, updated on 10-Dec-2024

    Summary

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    Official Symbol
    FERMT1provided by HGNC
    Official Full Name
    FERM domain containing kindlin 1provided by HGNC
    Primary source
    HGNC:HGNC:15889
    See related
    Ensembl:ENSG00000101311 MIM:607900; AllianceGenome:HGNC:15889
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    URP1; KIND1; DTGCU2; UNC112A; C20orf42
    Summary
    This gene encodes a member of the fermitin family, and contains a FERM domain and a pleckstrin homology domain. The encoded protein is involved in integrin signaling and linkage of the actin cytoskeleton to the extracellular matrix. Mutations in this gene have been linked to Kindler syndrome. [provided by RefSeq, Dec 2009]
    Expression
    Broad expression in colon (RPKM 18.0), skin (RPKM 10.5) and 15 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See FERMT1 in Genome Data Viewer
    Location:
    20p12.3
    Exon count:
    15
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 20 NC_000020.11 (6074845..6123030, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 20 NC_060944.1 (6116428..6164613, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (6055492..6103677, complement)

    Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:6033043-6033844 Neighboring gene leucine rich repeat neuronal 4 Neighboring gene uncharacterized LOC124904865 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12662 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12663 Neighboring gene TARDBP pseudogene 1 Neighboring gene SYNCRIP pseudogene 1

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Induction of senescence pathways in Kindler syndrome primary keratinocytes. Piccinni E, et al. Br J Dermatol, 2013 May. PMID 23278235
    2. Kindler Syndrome. Adam MP, et al. , 1993. PMID 26937547
    3. Novel KIND1 gene mutation in Kindler syndrome with severe gastrointestinal tract involvement. Sadler E, et al. Arch Dermatol, 2006 Dec. PMID 17178989
    4. Five new homozygous mutations in the KIND1 gene in Kindler syndrome. Lai-Cheong JE, et al. J Invest Dermatol, 2007 Sep. PMID 17460733
    5. A Deep-Intronic FERMT1 Mutation Causes Kindler Syndrome: An Explanation for Genetically Unsolved Cases. Chmel N, et al. J Invest Dermatol, 2015 Nov. PMID 26083552

    See all (94) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. FERMT1 suppression induces anti-tumor effects and reduces stemness in glioma cancer cells.
      Title: FERMT1 suppression induces anti-tumor effects and reduces stemness in glioma cancer cells.
    2. FERMT1 promotes cell migration and invasion in non-small cell lung cancer via regulating PKP3-mediated activation of p38 MAPK signaling.
      Title: FERMT1 promotes cell migration and invasion in non-small cell lung cancer via regulating PKP3-mediated activation of p38 MAPK signaling.
    3. FERMT1 Is a Prognostic Marker Involved in Immune Infiltration of Pancreatic Adenocarcinoma Correlating with m[6]A Modification and Necroptosis.
      Title: FERMT1 Is a Prognostic Marker Involved in Immune Infiltration of Pancreatic Adenocarcinoma Correlating with m(6)A Modification and Necroptosis.
    4. Characterization of Amino Acid Substitutions and Deletions in Kindlin-1 FERM Domain: Relevance for Precision Medicine.
      Title: Characterization of Amino Acid Substitutions and Deletions in Kindlin-1 FERM Domain: Relevance for Precision Medicine.
    5. Kindlin-1 modulates the EGFR pathway and predicts sensitivity to EGFR inhibitors across cancer types.
      Title: Kindlin-1 modulates the EGFR pathway and predicts sensitivity to EGFR inhibitors across cancer types.
    6. FERMT1 knockdown inhibits oral squamous cell carcinoma cell epithelial-mesenchymal transition by inactivating the PI3K/AKT signaling pathway.
      Title: FERMT1 knockdown inhibits oral squamous cell carcinoma cell epithelial-mesenchymal transition by inactivating the PI3K/AKT signaling pathway.
    7. FERMT1 promotes gastric cancer progression by activating the NF-kappaB pathway and predicts poor prognosis.
      Title: FERMT1 promotes gastric cancer progression by activating the NF-κB pathway and predicts poor prognosis.
    8. Examination of FERMT1 expression in placental chorionic villi and its role in HTR8-SVneo cell invasion.
      Title: Examination of FERMT1 expression in placental chorionic villi and its role in HTR8-SVneo cell invasion.
    9. Molecular motion and tridimensional nanoscale localization of kindlin control integrin activation in focal adhesions.
      Title: Molecular motion and tridimensional nanoscale localization of kindlin control integrin activation in focal adhesions.
    10. A novel pathogenic FERMT1 variant in four families with Kindler syndrome in Argentina.
      Title: A novel pathogenic FERMT1 variant in four families with Kindler syndrome in Argentina.
    Submit: New GeneRIF Correction See all GeneRIFs (70)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Kindler syndrome
    MedGen: C0406557 OMIM: 173650 GeneReviews: Kindler Syndrome
    		Compare labs

    EBI GWAS Catalog

    Description
    Genome-wide association study of primary dentition pit-and-fissure and smooth surface caries.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ20116, FLJ23423

    Gene Ontology Provided by GOA

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

    General protein information

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    Preferred Names
    fermitin family homolog 1
    Names
    UNC112 related protein 1
    fermitin family member 1
    kindlerin
    kindlin 1
    kindlin syndrome protein
    unc-112-related protein 1

    NCBI Reference Sequences (RefSeq)

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    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.

    Genomic

    1. NG_016213.1 RefSeqGene

      Range
      5515..53700
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_017671.5 → NP_060141.3  fermitin family homolog 1

      See identical proteins and their annotated locations for NP_060141.3

      Status: REVIEWED

      Source sequence(s)
      AB105105, AK000123, BC040545
      Consensus CDS
      CCDS13098.1
      UniProtKB/Swiss-Prot
      D3DW10, Q8IX34, Q8IYH2, Q9BQL6, Q9NWM2, Q9NXQ3
      UniProtKB/TrEMBL
      Q54A15
      Related
      ENSP00000217289.4, ENST00000217289.9
      Conserved Domains (4) summary
      smart00295
      Location:250 → 343
      B41; Band 4.1 homologues
      cd01237
      Location:370 → 493
      PH_fermitin; Fermitin family pleckstrin homology (PH) domain
      cd13205
      Location:564 → 655
      FERM_C_fermitin; FERM domain C-lobe of the Fermitin family
      pfam00373
      Location:514 → 570
      FERM_M; FERM central domain

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000020.11 Reference GRCh38.p14 Primary Assembly

      Range
      6074845..6123030 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_024451935.2 → XP_024307703.1  fermitin family homolog 1 isoform X1

      UniProtKB/Swiss-Prot
      D3DW10, Q8IX34, Q8IYH2, Q9BQL6, Q9NWM2, Q9NXQ3
      UniProtKB/TrEMBL
      Q54A15
      Conserved Domains (4) summary
      smart00295
      Location:250 → 343
      B41; Band 4.1 homologues
      cd01237
      Location:370 → 493
      PH_fermitin; Fermitin family pleckstrin homology (PH) domain
      cd13205
      Location:564 → 655
      FERM_C_fermitin; FERM domain C-lobe of the Fermitin family
      pfam00373
      Location:514 → 570
      FERM_M; FERM central domain

    2. XM_047440259.1 → XP_047296215.1  fermitin family homolog 1 isoform X1

      UniProtKB/Swiss-Prot
      D3DW10, Q8IX34, Q8IYH2, Q9BQL6, Q9NWM2, Q9NXQ3
      UniProtKB/TrEMBL
      Q54A15
      Related
      ENSP00000514127.1, ENST00000699095.1

    3. XM_047440260.1 → XP_047296216.1  fermitin family homolog 1 isoform X2

      UniProtKB/TrEMBL
      Q54A15

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060944.1 Alternate T2T-CHM13v2.0

      Range
      6116428..6164613 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054323631.1 → XP_054179606.1  fermitin family homolog 1 isoform X1

      UniProtKB/Swiss-Prot
      D3DW10, Q8IX34, Q8IYH2, Q9BQL6, Q9NWM2, Q9NXQ3
      UniProtKB/TrEMBL
      Q54A15

    2. XM_054323632.1 → XP_054179607.1  fermitin family homolog 1 isoform X1

      UniProtKB/Swiss-Prot
      D3DW10, Q8IX34, Q8IYH2, Q9BQL6, Q9NWM2, Q9NXQ3
      UniProtKB/TrEMBL
      Q54A15

    3. XM_054323633.1 → XP_054179608.1  fermitin family homolog 1 isoform X2

      UniProtKB/TrEMBL
      Q54A15
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9BQL6.1 GenPept UniProtKB/Swiss-Prot:Q9BQL6

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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