FERMT3
entrez
83706
canonical
uniprot
Q86UX7
canonical
ensembl
ENSG00000149781
resolver
ensp
ENSP00000279227
resolver
ensp
ENSP00000339950
resolver
ensp
ENSP00000438885
resolver
ensp
ENSP00000445778
resolver
ensp
ENSP00000513988
resolver
ensp
ENSP00000513999
resolver
enst
ENST00000541252
resolver
enst
ENST00000698874
resolver
genesymbol
FERMT3
resolver
genesymbol_syn
KIND3
resolver
genesymbol_syn
MIG2B
resolver
genesymbol_syn
URP2
resolver
hgnc
HGNC:23151
resolver
uniprot
F5H3I6
resolver
uniprot
Q8IUA1
resolver
uniprot
Q8N207
resolver
uniprot
Q9BT48
resolver
uniprot_entry
F5H3I6_HUMAN
resolver
uniprot_entry
URP2_HUMAN
resolver
uniprot_sec
Q8IUA1
resolver
uniprot_sec
Q8N207
resolver
uniprot_sec
Q9BT48
resolver
amino_acid_sequence
MAGMKTASGDYIDSSWELRVFVGEEDPEAESVTLRVTGESHIGGVLLKIVEQINRKQDWSDHAIWWEQKRQWLLQTHWTLDKYGILADARLFFGPQHRPVILRLPNRRALRLRASFSQPLFQAVAAICRLLSIRHPEELSLLRAPEKKEKKKKEKEPEEELYDLSKVVLAGGVAPALFRGMPAHFSDSAQTEACYHMLSRPQPPPDPLLLQRLPRPSSLSDKTQLHSRWLDSSRCLMQQGIKAGDALWLRFKYYSFFDLDPKTDPVRLTQLYEQARWDLLLEEIDCTEEEMMVFAALQYHINKLSQSGEVGEPAGTDPGLDDLDVALSNLEVKLEGSAPTDVLDSLTTIPELKDHLRIFRIPRRPRKLTLKGYRQHWVVFKETTLSYYKSQDEAPGDPIQQLNLKGCEVVPDVNVSGQKFCIKLLVPSPEGMSEIYLRCQDEQQYARWMAGCRLASKGRTMADSSYTSEVQAILAFLSLQRTGSGGPGNHPHGPDASAEGLNPYGLVAPRFQRKFKAKQLTPRILEAHQNVAQLSLAEAQLRFIQAWQSLPDFGISYVMVRFKGSRKDEILGIANNRLIRIDLAVGDVVKTWRFSNMRQWNVNWDIRQVAIEFDEHINVAFSCVSASCRIVHEYIGGYIFLSTRERARGEELDEDLFLQLTGGHEAF
uniprot
proteins
disease_involvement
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.
uniprot
proteins
function
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}.
uniprot
proteins
mass_dalton
75953
uniprot
proteins
protein_family
Kindlin family
uniprot
proteins
pubmed
12697302
uniprot
proteins
pubmed
12886250
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
18088087
uniprot
proteins
pubmed
18280249
uniprot
proteins
pubmed
18779414
uniprot
proteins
pubmed
19064721
uniprot
proteins
pubmed
19234460
uniprot
proteins
pubmed
19234463
uniprot
proteins
pubmed
19617577
uniprot
proteins
pubmed
19690332
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
25944712
uniprot
proteins
pubmed
26359933
uniprot
proteins
sequence_length
667
uniprot
proteins
subcellular_location
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}.
uniprot
proteins