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

Gene ID: 55612, updated on 3-Apr-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
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Genomic context

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Location:
20p12.3
Exon count:
15
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 20 NC_000020.11 (6074845..6123030, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 20 NC_060944.1 (6116428..6164613, complement)
105.20220307 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. FERMT1 Is a Prognostic Marker Involved in Immune Infiltration of Pancreatic Adenocarcinoma Correlating with m(6)A Modification and Necroptosis. Wu Q, et al. Genes (Basel), 2023 Mar 16. PMID 36981005, Free PMC Article
  2. Kindlin-1 modulates the EGFR pathway and predicts sensitivity to EGFR inhibitors across cancer types. Azorin P, et al. Clin Transl Med, 2022 Apr. PMID 35452191, Free PMC Article
  3. Characterization of Amino Acid Substitutions and Deletions in Kindlin-1 FERM Domain: Relevance for Precision Medicine. Yilmaz P, et al. J Invest Dermatol, 2022 Sep. PMID 35189150
  4. FERMT1 knockdown inhibits oral squamous cell carcinoma cell epithelial-mesenchymal transition by inactivating the PI3K/AKT signaling pathway. Wang X, et al. BMC Oral Health, 2021 Nov 23. PMID 34814915, Free PMC Article
  5. Molecular motion and tridimensional nanoscale localization of kindlin control integrin activation in focal adhesions. Orré T, et al. Nat Commun, 2021 May 25. PMID 34035280, Free PMC Article

See all (92) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. 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.
  2. 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.
  3. 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.
  4. 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.
  5. 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.
  6. 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.
  7. 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.
  8. 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.
  9. 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.
  10. Study shows that skin and keratinocytes from Kindler syndrome patients have significantly reduced expression levels of the EGFR, resulting in defective EGF-dependent signaling and cell migration. Kindlin-1 can associate directly with EGFR in vitro and in keratinocytes in an EGF-dependent manner and formation of this complex protect EGFR from lysosomal-mediated degradation and required for EGF-dependent migration.
    Title: Kindlin-1 Regulates Epidermal Growth Factor Receptor Signaling.
Submit: New GeneRIF Correction See all GeneRIFs (69)

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
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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)

Genotypes

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_2023_10

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
    Related
    ENSP00000514127.1, ENST00000699095.1

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

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

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

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

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

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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