UniProt functional annotation for Q86UX7



	UniProt functional annotation for Q86UX7

UniProt code: Q86UX7.

Organism: Homo sapiens (Human).

Taxonomy: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo.

Function: Plays a central role in cell adhesion in hematopoietic cells (PubMed:19234463, PubMed:26359933). Acts by activating the integrin beta-1-3 (ITGB1, ITGB2 and ITGB3) (By similarity). Required for integrin-mediated platelet adhesion and leukocyte adhesion to endothelial cells (PubMed:19234460). Required for activation of integrin beta-2 (ITGB2) in polymorphonuclear granulocytes (PMNs) (By similarity). {ECO:0000250|UniProtKB:Q8K1B8, ECO:0000269|PubMed:19234460, ECO:0000269|PubMed:19234463, ECO:0000269|PubMed:26359933}.

Function: Isoform 2 may act as a repressor of NF-kappa-B and apoptosis. {ECO:0000269|PubMed:19064721, ECO:0000269|PubMed:19234460, ECO:0000269|PubMed:19234463}.

Subunit: Interacts with ITGB1, ITGB2 and ITGB3 (via cytoplasmic tails). {ECO:0000250}.

Subcellular location: 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}.

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:0000269|PubMed:12697302, ECO:0000269|PubMed:12886250}.

Domain: The FERM domain is not correctly detected by PROSITE or Pfam techniques because it contains the insertion of a PH domain.

Disease: Leukocyte adhesion deficiency 3 (LAD3) [MIM:612840]: A disorder characterized by recurrent bacterial infections without pus formation, leukocytosis and major bleeding disorders. {ECO:0000269|PubMed:18779414, ECO:0000269|PubMed:19064721, ECO:0000269|PubMed:19234460, ECO:0000269|PubMed:19234463, ECO:0000269|PubMed:19617577, ECO:0000269|PubMed:26359933}. Note=The disease is caused by variants affecting the gene represented in this entry.

Similarity: Belongs to the kindlin family. {ECO:0000305}.

Annotations taken from UniProtKB at the EBI.


Organism:		Homo sapiens (Human).
Taxonomy:		Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo.



Function:		Plays a central role in cell adhesion in hematopoietic cells (PubMed:19234463, PubMed:26359933). Acts by activating the integrin beta-1-3 (ITGB1, ITGB2 and ITGB3) (By similarity). Required for integrin-mediated platelet adhesion and leukocyte adhesion to endothelial cells (PubMed:19234460). Required for activation of integrin beta-2 (ITGB2) in polymorphonuclear granulocytes (PMNs) (By similarity). {ECO:0000250\|UniProtKB:Q8K1B8, ECO:0000269\|PubMed:19234460, ECO:0000269\|PubMed:19234463, ECO:0000269\|PubMed:26359933}.



Function:		Isoform 2 may act as a repressor of NF-kappa-B and apoptosis. {ECO:0000269\|PubMed:19064721, ECO:0000269\|PubMed:19234460, ECO:0000269\|PubMed:19234463}.


Subunit:		Interacts with ITGB1, ITGB2 and ITGB3 (via cytoplasmic tails). {ECO:0000250}.
Subcellular location:		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}.
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:0000269\|PubMed:12697302, ECO:0000269\|PubMed:12886250}.
Domain:		The FERM domain is not correctly detected by PROSITE or Pfam techniques because it contains the insertion of a PH domain.
Disease:		Leukocyte adhesion deficiency 3 (LAD3) [MIM:612840]: A disorder characterized by recurrent bacterial infections without pus formation, leukocytosis and major bleeding disorders. {ECO:0000269\|PubMed:18779414, ECO:0000269\|PubMed:19064721, ECO:0000269\|PubMed:19234460, ECO:0000269\|PubMed:19234463, ECO:0000269\|PubMed:19617577, ECO:0000269\|PubMed:26359933}. Note=The disease is caused by variants affecting the gene represented in this entry.
Similarity:		Belongs to the kindlin family. {ECO:0000305}.