DTGCU2
entrez
55612
canonical
uniprot
Q9BQL6
canonical
ensembl
ENSG00000101311
resolver
ensp
ENSP00000217289
resolver
ensp
ENSP00000525510
resolver
ensp
ENSP00000525511
resolver
genesymbol
DTGCU2
resolver
genesymbol
FERMT1
resolver
genesymbol_syn
C20orf42
resolver
genesymbol_syn
KIND1
resolver
genesymbol_syn
URP1
resolver
hgnc
HGNC:15889
resolver
uniprot
D3DW10
resolver
uniprot
Q49AC8
resolver
uniprot
Q54A15
resolver
uniprot
Q8IX34
resolver
uniprot
Q8IYH2
resolver
uniprot
Q9NWM2
resolver
uniprot
Q9NXQ3
resolver
uniprot_entry
FERM1_HUMAN
resolver
uniprot_entry
Q49AC8_HUMAN
resolver
uniprot_entry
Q54A15_HUMAN
resolver
uniprot_sec
D3DW10
resolver
uniprot_sec
Q8IX34
resolver
uniprot_sec
Q8IYH2
resolver
uniprot_sec
Q9NWM2
resolver
uniprot_sec
Q9NXQ3
resolver
amino_acid_sequence
MLSSTDFTFASWELVVRVDHPNEEQQKDVTLRVSGDLHVGGVMLKLVEQINISQDWSDFALWWEQKHCWLLKTHWTLDKYGVQADAKLLFTPQHKMLRLRLPNLKMVRLRVSFSAVVFKAVSDICKILNIRRSEELSLLKPSGDYFKKKKKKDKNNKEPIIEDILNLESSPTASGSSVSPGLYSKTMTPIYDPINGTPASSTMTWFSDSPLTEQNCSILAFSQPPQSPEALADMYQPRSLVDKAKLNAGWLDSSRSLMEQGIQEDEQLLLRFKYYSFFDLNPKYDAVRINQLYEQARWAILLEEIDCTEEEMLIFAALQYHISKLSLSAETQDFAGESEVDEIEAALSNLEVTLEGGKADSLLEDITDIPKLADNLKLFRPKKLLPKAFKQYWFIFKDTSIAYFKNKELEQGEPLEKLNLRGCEVVPDVNVAGRKFGIKLLIPVADGMNEMYLRCDHENQYAQWMAACMLASKGKTMADSSYQPEVLNILSFLRMKNRNSASQVASSLENMDMNPECFVSPRCAKRHKSKQLAARILEAHQNVAQMPLVEAKLRFIQAWQSLPEFGLTYYLVRFKGSKKDDILGVSYNRLIKIDAATGIPVTTWRFTNIKQWNVNWETRQVVIEFDQNVFTAFTCLSADCKIVHEYIGGYIFLSTRSKDQNETLDEDLFHKLTGGQD
uniprot
proteins
disease_involvement
DISEASE: Kindler syndrome (KNDLRS) [MIM:173650]: An 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:0000269|PubMed:12668616, ECO:0000269|PubMed:12789646, ECO:0000269|PubMed:21936020}. Note=The disease is caused by variants 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:0000269|PubMed:21936020}.
uniprot
proteins
function
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:0000269|PubMed:14634021, ECO:0000269|PubMed:17012746, ECO:0000269|PubMed:19804783}.
uniprot
proteins
mass_dalton
77437
uniprot
proteins
protein_family
Kindlin family
uniprot
proteins
pubmed
11780052
uniprot
proteins
pubmed
12668616
uniprot
proteins
pubmed
12697302
uniprot
proteins
pubmed
12789646
uniprot
proteins
pubmed
14634021
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
17012746
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
19804783
uniprot
proteins
pubmed
20068231
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
21936020
uniprot
proteins
pubmed
23186163
uniprot
proteins
sequence_length
677
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: 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.
uniprot
proteins