ID:URP2_HUMAN DESCRIPTION: RecName: Full=Fermitin family homolog 3; AltName: Full=Kindlin-3; AltName: Full=MIG2-like protein; AltName: Full=Unc-112-related protein 2; 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). FUNCTION: Isoform 2 may act as a repressor of NF-kappa-B and apoptosis. SUBUNIT: Interacts with ITGB1, ITGB2 and ITGB3 (via cytoplasmic tails) (By similarity). SUBCELLULAR LOCATION: Cell projection, podosome (By similarity). Note=Present in the F-actin surrounding ring structure of podosomes, which are specialized adhesion structures of hematopoietic cells (By similarity). 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. DOMAIN: The FERM domain is not correctly detected by PROSITE or Pfam techniques because it contains the insertion of a PH domain. DISEASE: Defects in FERMT3 are the cause of leukocyte adhesion deficiency type 3 (LAD3) [MIM:612840]; also called leukocyte adhesion deficiency 1 variant (LAD1v). LAD3 is a rare syndrome characterized by infections without pus formation in the presence of a leukocytosis combined with a Glanzmann-type bleeding disorder, resulting from a hematopoietic defect in integrin activation. Symptoms arise from an inability to activate the integrins expressed on hematopoietic cells, including platelets and leukocytes. SIMILARITY: Belongs to the kindlin family. SIMILARITY: Contains 1 FERM domain. SIMILARITY: Contains 1 PH domain.
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on Q86UX7
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
US Server
Sequence and Links to Tools and Databases 
Common Gene Haplotype Alleles 
