| Gene Symbol |
FERMT1
|
| Entrez Gene |
55612
|
| Alt Symbol |
C20orf42, DTGCU2, KIND1, UNC112A, URP1
|
| Species |
Human
|
| Gene Type |
protein-coding
|
| Description |
fermitin family member 1
|
| Other Description |
UNC112 related protein 1|fermitin family homolog 1|kindlerin|kindlin 1|kindlin syndrome protein|unc-112-related protein 1
|
| Swissprots |
D3DW10 Q8IX34 Q9BQL6 Q8IYH2 Q9NXQ3 Q9NWM2
|
| Accessions |
EAX10392 EAX10393 EAX10394 EAX10395 Q9BQL6 AB105105 BAD12269 AF443278 AAN75822 AK000123 BAA90957 AK000747 BAA91358 AK025365 AK027076 AK092195 BAC03826 AK225216 AK314394 BAG37018 AY137240 AAM94174 BC035882 AAH35882 BC040545 AAH40545 BX647465 NM_017671 NP_060141
|
| 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}.
|
| 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.
|
| Tissue Specificity |
Expressed in brain, skeletal muscle, kidney, colon, adrenal gland, prostate, and placenta. Weakly or not expressed in heart, thymus, spleen, liver, small intestine, bone marrow, lung and peripheral blood leukocytes. Overexpressed in some colon and lung tumors. In skin, it is localized within the epidermis and particularly in basal keratocytes. Not detected in epidermal melanocytes and dermal fibroblasts. {ECO:0000269|PubMed:12668616, ECO:0000269|PubMed:12697302, ECO:0000269|PubMed:12789646, ECO:0000269|PubMed:14634021, ECO:0000269|PubMed:17012746}.
|