| Type | Description |
|---|---|
| Definition | fermitin family member 1 |
| Date | Results | Publications |
|---|---|---|
| 2021-04-17 13:37:00 | A novel pathogenic FERMT1 variant in four families with Kindler syndrome in Argentina. | 31957900 |
| 2020-01-04 11:43:00 | Study shows that skin and keratinocytes from Kindler syndrome patients have significantly reduced expression levels of the EGFR, resulting in defective EGF-dependent signaling and cell migration. Kindlin-1 can associate directly with EGFR in vitro and in keratinocytes in an EGF-dependent manner and formation of this complex protect EGFR from lysosomal-mediated degradation and required for EGF-dependent migration. | 30248333 |
| 2019-06-15 10:10:00 | indicate that FERMT1 acts as an oncogene and is negatively regulated by miR-24 | 31165706 |
| 2018-07-14 10:08:00 | Kindlin-1 is mainly expressed in the cytoplasm of normal esophageal squamous epithelium and Esophageal cancer (EC) cells. Kindlin-1 expression is positively correlated with tumor cell differentiation and is higher in stage I tumors. Kindlin-1 expression is higher in non-smoker patients than in smoker patients, and in patients with a family history of EC. | 28667517 |
| 2018-06-16 10:19:00 | Kindlin supports platelet GPIIB IIIA activation by interacting with paxillin. | 28954813 |
| Type | IDs |
|---|---|
| Synonymous | C20orf42, DTGCU2, KIND1, UNC112A, URP1 |
| Gene |
UniProtKB-ID:
FERM1_HUMAN,
Q54A15_HUMAN,
Q49AC8_HUMAN
UniprotKB:
Q9BQL6,
Q54A15,
Q49AC8
UniParc:
UPI0000074259,
UPI000002A74A,
UPI000056F1AA,
UPI000002A74B,
UPI000007441F,
UPI00001285DD
EMBL:
AY137240,
AK000123,
AB105105,
AK000747,
AK092195,
AL118505,
BC040545,
CH471133,
AF443278,
BC035882
Ensembl:
ENSG00000101311
KO:
hsa:55612
|
| Nucleutide sequences |
EMBL-CDS:
BAA90957.1,
EAX10393.1,
AAH35882.1,
AAM94174.1,
AAN75822.1,
EAX10392.1,
BAA91358.1,
BAC03826.1,
BAD12269.1,
AAH40545.1
Ensembl_TRS:
ENST00000217289
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000217289
RefSeq:
XP_024307703.1,
NP_060141.3
|
| Others |
UniRef100:
UniRef100_Q49AC8,
UniRef100_Q9BQL6,
UniRef100_Q54A15
UniRef90:
UniRef90_A0A2K5PEZ2,
UniRef90_Q9BQL6
UniRef50:
UniRef50_Q9BQL6,
UniRef50_A0A2K5PEZ2
UniGene:
Hs.472054
CCDS:
CCDS13098.1
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
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| Conserved domain | Region: {{conservedDomain.region == '' || conservedDomain.region == null ? "-": conservedDomain.region}} GFID: {{conservedDomain.gfid == '' || conservedDomain.gfid == null ? "-": conservedDomain.gfid}} Family: {{conservedDomain.family == '' || conservedDomain.family == null ? "-": conservedDomain.family}} CDD: {{conservedDomain.cdd}} - |
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