InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: FERMT3

Summary

InnateDB Protein

IDBP-53152.6

Last Modified

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

Gene Symbol

FERMT3

Protein Name

fermitin family member 3

Synonyms

Species

Homo sapiens

Ensembl Protein

ENSP00000279227

InnateDB Gene

IDBG-53150 (FERMT3)

Protein Structure

UniProt Annotation

Function

Plays a central role in cell adhesion in hematopoietic cells. Acts by activating the integrin beta-1-3 (ITGB1, ITGB2 and ITGB3). Required for integrin-mediated platelet adhesion and leukocyte adhesion to endothelial cells. Required for activation of integrin beta-2 (ITGB2) in polymorphonuclear granulocytes (PMNs) (By similarity). {ECO:0000250}.Isoform 2 may act as a repressor of NF-kappa-B and apoptosis. {ECO:0000269PubMed:19064721, ECO:0000269PubMed:19234460, ECO:0000269PubMed:19234463}.

Subcellular Localization

Cell projection, podosome {ECO:0000250}. Note=Present in the F-actin surrounding ring structure of podosomes, which are specialized adhesion structures of hematopoietic cells. {ECO:0000250}.

Disease Associations

Leukocyte adhesion deficiency 3 (LAD3) [MIM:612840]: A disorder characterized by recurrent bacterial infections without pus formation, leukocytosis and major bleeding disorders. {ECO:0000269PubMed:18779414, ECO:0000269PubMed:19064721, ECO:0000269PubMed:19234460, ECO:0000269PubMed:19234463, ECO:0000269PubMed:19617577}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Highly expressed in lymph node. Expressed in thymus, spleen and leukocytes. Weakly expressed in placenta, small intestine, stomach, testis and lung. Overexpressed in B-cell malignancies. {ECO:0000269PubMed:12697302, ECO:0000269PubMed:12886250}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 8 experimentally validated interaction(s) in this database.

Experimentally validated
Total	8 [view]
Protein-Protein	8 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0005178	integrin binding
GO:0005515	protein binding

Biological Process

GO:0007159	leukocyte cell-cell adhesion
GO:0007229	integrin-mediated signaling pathway
GO:0033622	integrin activation
GO:0033632	regulation of cell-cell adhesion mediated by integrin
GO:0034446	substrate adhesion-dependent cell spreading
GO:0070527	platelet aggregation