Search
fermitin family homolog 1; kindlerin; kindlin syndrome protein; kindlin-1; Unc-112-related protein 1 (FERMT1, C20orf42, KIND1 URP1)
Function:
- role in cell adhesion
- contributes to integrin activation
- when co-expressed with talin, potentiates activation of ITGA2B
- required for normal keratinocyte proliferation
- required for normal polarization of basal keratinocytes in skin, & for normal cell shape
- required for normal adhesion of keratinocytes to fibronectin & laminin, & for normal keratinocyte migration to wound sites
- may mediate TGF-beta 1 signaling in tumor progression
- interacts with the cytoplasmic domain of integrins ITGB1 & ITGB3
Structure:
- the FERM domain is not correctly detected by PROSITE or Pfam techniques because it contains the insertion of a PH domain
- the FERM domain contains the subdomains F1, F2 & F3
- it is preceded by a F0 domain with a ubiquitin-like fold
- the F0 domain is required for integrin activation & for localization at focal adhesions
- belongs to the kindlin family
- contains 1 FERM domain
- contains 1 PH domain
Compartment:
- cytoplasm, cytoskeleton
- cell junction, focal adhesion
- cell projection, ruffle membrane
- peripheral membrane, cytoplasmic side
- constituent of focal adhesions
- localized at the basal aspect of skin keratinocytes, close to the cell membrane
- colocalizes with filamentous actin
- upon TGFB1 treatment, it localizes to membrane ruffles
Alternative splicing: named isoforms=4
Expression:
- expressed in brain, skeletal muscle, kidney, colon, adrenal gland, prostate, & placenta.
- not expressed or weakly expressed in heart, thymus, spleen, liver, small intestine, bone marrow, lung & peripheral blood leukocytes
- overexpressed in some colon cancers & lung cancers
- in skin, it is localized within the epidermis & particularly in basal keratocytes
- not detected in epidermal melanocytes & dermal fibroblasts
- induced by TGFB1
Pathology:
- defects in FERMT1 are the cause of kindler syndrome
Related
KIND1 gene
Kindler syndrome (hereditary acrokeratotic poikiloderma)
General
kindlin
Properties
SIZE: entity length = 677 aa
MW = 77 kD
COMPARTMENT: cytoplasm
MOTIF: FERM domain
NAME: FERM domain
SITE: 96-653
MOTIF: lysine-rich region {147-154}
MOTIF: lysine residue (SEVERAL)
Ser phosphorylation site {S170}
Ser phosphorylation site {S179}
PH domain {377-473}
Database Correlations
OMIM correlations
MORBIDMAP 607900
UniProt Q9BQL6
PFAM correlations
Entrez Gene 55612
Kegg hsa:55612
References
- UniProt :accession Q9BQL6
- GeneReviews
http://www.ncbi.nlm.nih.gov/sites/genetests/lab/gene/FERMT1