Entity Details

Primary name FERMT1
Entity type gene
Source Source Link

Details

PrimaryID55612
RefseqGeneNG_016213
SymbolFERMT1
NameFERM domain containing kindlin 1
Chromosome20
Location20p12.3
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate2000-07-03
ModificationDate2021-06-20

Ontological Relatives

UniProt IDsFERM1_HUMAN

GO terms

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GOName
GO:0001954 positive regulation of cell-matrix adhesion
GO:0005178 integrin binding
GO:0005737 cytoplasm
GO:0005829 cytosol
GO:0005856 cytoskeleton
GO:0005925 focal adhesion
GO:0007155 cell adhesion
GO:0007160 cell-matrix adhesion
GO:0007229 integrin-mediated signaling pathway
GO:0010629 negative regulation of gene expression
GO:0030054 cell junction
GO:0030055 cell-substrate junction
GO:0030511 positive regulation of transforming growth factor beta receptor signaling pathway
GO:0032587 ruffle membrane
GO:0033625 positive regulation of integrin activation
GO:0033630 positive regulation of cell adhesion mediated by integrin
GO:0042308 negative regulation of protein import into nucleus
GO:0043616 keratinocyte proliferation
GO:0051015 actin filament binding
GO:0051546 keratinocyte migration
GO:0051886 negative regulation of timing of anagen
GO:0071636 positive regulation of transforming growth factor beta production
GO:0071711 basement membrane organization
GO:0071944 cell periphery
GO:0090090 negative regulation of canonical Wnt signaling pathway
GO:0090162 establishment of epithelial cell polarity
GO:1903691 positive regulation of wound healing, spreading of epidermal cells
GO:2000647 negative regulation of stem cell proliferation

Diseases

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Disease IDSourceNameDescription
173650 OMIMKindler syndrome (KNDLRS)An autosomal recessive skin disorder characterized by skin blistering, photosensitivity, progressive poikiloderma, and extensive skin atrophy. Additional clinical features include gingival erosions, ocular, esophageal, gastrointestinal and urogenital involvement, and an increased risk of mucocutaneous malignancy. The disease is caused by variants affecting the gene represented in this entry. Although most FERMT1 mutations are predicted to lead to premature termination of translation, and to loss of FERMT1 function, significant clinical variability is observed among patients. There is an association of FERMT1 missense and in-frame deletion mutations with milder disease phenotypes, and later onset of complications (PubMed:21936020).