InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: FERMT1

Summary

InnateDB Protein

IDBP-52259.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

FERMT1

Protein Name

fermitin family member 1

Synonyms

Species

Homo sapiens

Ensembl Protein

ENSP00000217289

InnateDB Gene

IDBG-52257 (FERMT1)

Protein Structure

UniProt Annotation

Function

Involved in cell adhesion. Contributes to integrin activation. When coexpressed with talin, potentiates activation of ITGA2B. Required for normal keratinocyte proliferation. Required for normal polarization of basal keratinocytes in skin, and for normal cell shape. Required for normal adhesion of keratinocytes to fibronectin and laminin, and for normal keratinocyte migration to wound sites. May mediate TGF-beta 1 signaling in tumor progression. {ECO:0000269PubMed:14634021, ECO:0000269PubMed:17012746, ECO:0000269PubMed:19804783}.

Subcellular Localization

Cytoplasm, cytoskeleton. Cell junction, focal adhesion. Cell projection, ruffle membrane; Peripheral membrane protein; Cytoplasmic side. Note=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.

Disease Associations

Kindler syndrome (KINDS) [MIM:173650]: 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. {ECO:0000269PubMed:12668616, ECO:0000269PubMed:12789646, ECO:0000269PubMed:21936020}. Note=The disease is caused by mutations 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). {ECO:0000269PubMed:21936020}.

Tissue Specificity

Expressed in brain, skeletal muscle, kidney, colon, adrenal gland, prostate, and placenta. Weakly or not expressed in heart, thymus, spleen, liver, small intestine, bone marrow, lung and peripheral blood leukocytes. Overexpressed in some colon and lung tumors. In skin, it is localized within the epidermis and particularly in basal keratocytes. Not detected in epidermal melanocytes and dermal fibroblasts. {ECO:0000269PubMed:12668616, ECO:0000269PubMed:12697302, ECO:0000269PubMed:12789646, ECO:0000269PubMed:14634021, ECO:0000269PubMed:17012746}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 3 experimentally validated interaction(s) in this database.

Experimentally validated
Total	3 [view]
Protein-Protein	2 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	1 [view]
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession

GO Term

Biological Process

GO:0007155	cell adhesion
GO:0043616	keratinocyte proliferation
GO:0051546	keratinocyte migration
GO:0090162	establishment of epithelial cell polarity

Cellular Component

GO:0005829	cytosol
GO:0005925	focal adhesion
GO:0030054	cell junction
GO:0031941	filamentous actin
GO:0032587	ruffle membrane

Protein Structure and Domains

PDB ID

InterPro

IPR001849 Pleckstrin homology domain
IPR018979 FERM, N-terminal
IPR019748 FERM central domain
IPR019749 Band 4.1 domain
IPR029071 Ubiquitin-related domain

PFAM

PF00169
PF09379
PF00373

PRINTS

PIRSF

SMART

SM00233
SM00295

TIGRFAMs

Post-translational Modifications

Modification

Cross-References

SwissProt

Q9BQL6