Entity Details

Primary name FERM1_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ9BQL6
EntryNameFERM1_HUMAN
FullNameFermitin family homolog 1
TaxID9606
Evidenceevidence at protein level
Length677
SequenceStatuscomplete
DateCreated2002-12-06
DateModified2021-06-02

Ontological Relatives

GenesFERMT1

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

Subcellular Location

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Subcellular Location
Cell junction
Cell projection
Cytoplasm

Domains

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DomainNameCategoryType
IPR001849 Pleckstrin homology domainDomainDomain
IPR011993 PH-like domain superfamilyFamilyHomologous superfamily
IPR019748 FERM central domainDomainDomain
IPR019749 Band 4.1 domainDomainDomain
IPR035963 FERM superfamily, second domainFamilyHomologous superfamily
IPR037837 Kindlin/fermitin, PH domainDomainDomain
IPR037843 Kindlin/fermitinFamilyFamily
IPR040790 Kindlin-2, N-terminalDomainDomain

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).

Interactions

4 interactions