Q9BQL6 · FERM1_HUMAN
- ProteinFermitin family homolog 1
- GeneFERMT1
- StatusUniProtKB reviewed (Swiss-Prot)
- Organism
- Amino acids677 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score5/5
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.
GO annotations
all annotations | all molecular function | virus receptor activity | dna binding | rna binding | cytoskeletal motor activity | catalytic activity | gtpase activity | structural molecule activity | transporter activity | cytoskeletal protein binding | lipid binding | cyclase activity | antioxidant activity | oxidoreductase activity | transferase activity | hydrolase activity | lyase activity | isomerase activity | ligase activity | protein tag activity | cargo receptor activity | histone binding | protein folding chaperone | translation regulator activity | nutrient reservoir activity | receptor ligand activity | molecular transducer activity | molecular adaptor activity | toxin activity | cell adhesion mediator activity | molecular function regulator activity | virus coreceptor activity | catalytic activity, acting on a protein | catalytic activity, acting on dna | catalytic activity, acting on rna | molecular carrier activity | transcription regulator activity | general transcription initiation factor activity | molecular sensor activity | molecular sequestering activity | atp-dependent activity | other molecular function | all biological process | mitotic cell cycle | cytokinesis | cytoplasmic translation | immune system process | muscle system process | circulatory system process | renal system process | respiratory system process | carbohydrate metabolic process | generation of precursor metabolites and energy | dna replication | dna repair | dna recombination | chromatin organization | dna-templated transcription | regulation of dna-templated transcription | trna metabolic process | protein folding | protein glycosylation | amino acid metabolic process | modified amino acid metabolic process | lipid metabolic process | vitamin metabolic process | sulfur compound metabolic process | intracellular protein transport | nucleocytoplasmic transport | autophagy | inflammatory response | mitochondrion organization | cytoskeleton organization | microtubule-based movement | peroxisome organization | lysosome organization | chromosome segregation | cell adhesion | establishment or maintenance of cell polarity | programmed cell death | photosynthesis | mrna metabolic process | snrna metabolic process | vesicle-mediated transport | reproductive process | digestive system process | signaling | cell differentiation | protein catabolic process | extracellular matrix organization | regulatory ncrna-mediated gene silencing | telomere organization | cell junction organization | wound healing | ribosome biogenesis | cilium organization | anatomical structure development | cell motility | nervous system process | endocrine process | protein maturation | transmembrane transport | nucleobase-containing small molecule metabolic process | hepaticobiliary system process | membrane organization | protein-containing complex assembly | cell wall organization or biogenesis | nitrogen cycle metabolic process | protein localization to plasma membrane | defense response to other organism | detoxification | meiotic nuclear division | mitotic nuclear division | mitochondrial gene expression | carbohydrate derivative metabolic process | other biological process | all cellular component | nuclear chromosome | extracellular region | extracellular space | cell wall | nucleus | nuclear envelope | nucleoplasm | chromosome | nucleolus | mitochondrion | lysosome | endosome | vacuole | peroxisome | endoplasmic reticulum | golgi apparatus | lipid droplet | microtubule organizing center | cytosol | ribosome | cytoskeleton | plasma membrane | cilium | plastid | thylakoid | external encapsulating structure | extracellular matrix | cytoplasmic vesicle | organelle | other cellular component | |||
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Keywords
- Biological process
Enzyme and pathway databases
Protein family/group databases
Names & Taxonomy
Protein names
- Recommended nameFermitin family homolog 1
- Alternative names
Gene names
Organism names
- Organism
- Taxonomic lineageEukaryota > Metazoa > Chordata > Craniata > Vertebrata > Euteleostomi > Mammalia > Eutheria > Euarchontoglires > Primates > Haplorrhini > Catarrhini > Hominidae > Homo
Accessions
- Primary accessionQ9BQL6
- Secondary accessions
Proteomes
Organism-specific databases
Subcellular Location
UniProt Annotation
GO Annotation
Cell projection, ruffle membrane ; Peripheral membrane protein
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.
Keywords
- Cellular component
Disease & Variants
Involvement in disease
Kindler syndrome (KNDLRS)
- Note
- DescriptionAn 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.
- See alsoMIM:173650
Natural variants in KNDLRS
Variant ID | Position(s) | Change | Description | |
---|---|---|---|---|
VAR_066942 | 100 | missing | in KNDLRS | |
VAR_066943 | 400 | S>P | in KNDLRS; dbSNP:rs869312718 | |
VAR_066944 | 559 | W>R | in KNDLRS; dbSNP:rs869312719 | |
VAR_066945 | 623 | missing | in KNDLRS; dbSNP:rs869312721 |
Features
Showing features for natural variant.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Natural variant | VAR_066942 | 100 | in KNDLRS | |||
Sequence: Missing | ||||||
Natural variant | VAR_048368 | 160 | in dbSNP:rs16991866 | |||
Sequence: I → T | ||||||
Natural variant | VAR_061035 | 241 | in dbSNP:rs55666319 | |||
Sequence: V → A | ||||||
Natural variant | VAR_066943 | 400 | in KNDLRS; dbSNP:rs869312718 | |||
Sequence: S → P | ||||||
Natural variant | VAR_014398 | 526 | in dbSNP:rs2232074 | |||
Sequence: R → K | ||||||
Natural variant | VAR_014399 | 534 | in dbSNP:rs2232078 | |||
Sequence: A → T | ||||||
Natural variant | VAR_066944 | 559 | in KNDLRS; dbSNP:rs869312719 | |||
Sequence: W → R | ||||||
Natural variant | VAR_066945 | 623 | in KNDLRS; dbSNP:rs869312721 | |||
Sequence: Missing |
Variants
We now provide the "Disease & Variants" viewer in its own tab.
The viewer provides 740 variants from UniProt as well as other sources including ClinVar and dbSNP.
Keywords
- Disease
Organism-specific databases
Miscellaneous
Genetic variation databases
PTM/Processing
Features
Showing features for chain, modified residue, modified residue (large scale data).
Type | ID | Position(s) | Source | Description | |||
---|---|---|---|---|---|---|---|
Chain | PRO_0000219452 | 1-677 | UniProt | Fermitin family homolog 1 | |||
Sequence: MLSSTDFTFASWELVVRVDHPNEEQQKDVTLRVSGDLHVGGVMLKLVEQINISQDWSDFALWWEQKHCWLLKTHWTLDKYGVQADAKLLFTPQHKMLRLRLPNLKMVRLRVSFSAVVFKAVSDICKILNIRRSEELSLLKPSGDYFKKKKKKDKNNKEPIIEDILNLESSPTASGSSVSPGLYSKTMTPIYDPINGTPASSTMTWFSDSPLTEQNCSILAFSQPPQSPEALADMYQPRSLVDKAKLNAGWLDSSRSLMEQGIQEDEQLLLRFKYYSFFDLNPKYDAVRINQLYEQARWAILLEEIDCTEEEMLIFAALQYHISKLSLSAETQDFAGESEVDEIEAALSNLEVTLEGGKADSLLEDITDIPKLADNLKLFRPKKLLPKAFKQYWFIFKDTSIAYFKNKELEQGEPLEKLNLRGCEVVPDVNVAGRKFGIKLLIPVADGMNEMYLRCDHENQYAQWMAACMLASKGKTMADSSYQPEVLNILSFLRMKNRNSASQVASSLENMDMNPECFVSPRCAKRHKSKQLAARILEAHQNVAQMPLVEAKLRFIQAWQSLPEFGLTYYLVRFKGSKKDDILGVSYNRLIKIDAATGIPVTTWRFTNIKQWNVNWETRQVVIEFDQNVFTAFTCLSADCKIVHEYIGGYIFLSTRSKDQNETLDEDLFHKLTGGQD | |||||||
Modified residue | 170 | UniProt | Phosphoserine | ||||
Sequence: S | |||||||
Modified residue (large scale data) | 170 | PRIDE | Phosphoserine | ||||
Sequence: S | |||||||
Modified residue | 179 | UniProt | Phosphoserine | ||||
Sequence: S | |||||||
Modified residue (large scale data) | 179 | PRIDE | Phosphoserine | ||||
Sequence: S | |||||||
Modified residue (large scale data) | 183 | PRIDE | Phosphotyrosine | ||||
Sequence: Y | |||||||
Modified residue | 361 | UniProt | Phosphoserine | ||||
Sequence: S | |||||||
Modified residue (large scale data) | 361 | PRIDE | Phosphoserine | ||||
Sequence: S | |||||||
Modified residue (large scale data) | 500 | PRIDE | Phosphoserine | ||||
Sequence: S | |||||||
Modified residue (large scale data) | 663 | PRIDE | Phosphothreonine | ||||
Sequence: T |
Keywords
- PTM
Proteomic databases
PTM databases
Expression
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.
Induction
By TGFB1.
Gene expression databases
Organism-specific databases
Structure
Family & Domains
Features
Showing features for domain.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Domain | 96-653 | FERM | ||||
Sequence: MLRLRLPNLKMVRLRVSFSAVVFKAVSDICKILNIRRSEELSLLKPSGDYFKKKKKKDKNNKEPIIEDILNLESSPTASGSSVSPGLYSKTMTPIYDPINGTPASSTMTWFSDSPLTEQNCSILAFSQPPQSPEALADMYQPRSLVDKAKLNAGWLDSSRSLMEQGIQEDEQLLLRFKYYSFFDLNPKYDAVRINQLYEQARWAILLEEIDCTEEEMLIFAALQYHISKLSLSAETQDFAGESEVDEIEAALSNLEVTLEGGKADSLLEDITDIPKLADNLKLFRPKKLLPKAFKQYWFIFKDTSIAYFKNKELEQGEPLEKLNLRGCEVVPDVNVAGRKFGIKLLIPVADGMNEMYLRCDHENQYAQWMAACMLASKGKTMADSSYQPEVLNILSFLRMKNRNSASQVASSLENMDMNPECFVSPRCAKRHKSKQLAARILEAHQNVAQMPLVEAKLRFIQAWQSLPEFGLTYYLVRFKGSKKDDILGVSYNRLIKIDAATGIPVTTWRFTNIKQWNVNWETRQVVIEFDQNVFTAFTCLSADCKIVHEYIGGYIFL | ||||||
Domain | 377-473 | PH | ||||
Sequence: KLFRPKKLLPKAFKQYWFIFKDTSIAYFKNKELEQGEPLEKLNLRGCEVVPDVNVAGRKFGIKLLIPVADGMNEMYLRCDHENQYAQWMAACMLASK |
Domain
The FERM domain is not correctly detected by PROSITE or Pfam techniques because it contains the insertion of a PH domain. The FERM domain contains the subdomains F1, F2 and F3. It is preceded by a F0 domain with a ubiquitin-like fold. The F0 domain is required for integrin activation and for localization at focal adhesions.
Sequence similarities
Belongs to the kindlin family.
Phylogenomic databases
Family and domain databases
Sequence & Isoforms
- Sequence statusComplete
This entry describes 4 isoforms produced by Alternative splicing.
Q9BQL6-1
This isoform has been chosen as the canonical sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.
- Name1
- Length677
- Mass (Da)77,437
- Last updated2001-06-01 v1
- Checksum7354DCD84C516F90
Q9BQL6-2
- Name2
Q9BQL6-3
- Name3
- Differences from canonical
- 1-447: Missing
Q9BQL6-4
- Name4
Computationally mapped potential isoform sequences
There are 2 potential isoforms mapped to this entry
Entry | Entry name | Gene name | Length | ||
---|---|---|---|---|---|
G3V1L6 | G3V1L6_HUMAN | FERMT1 | 88 | ||
A0A8V8TN73 | A0A8V8TN73_HUMAN | FERMT1 | 296 |
Sequence caution
Features
Showing features for alternative sequence, sequence conflict.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Alternative sequence | VSP_003809 | 1-447 | in isoform 3 | |||
Sequence: Missing | ||||||
Sequence conflict | 117 | in Ref. 4; BAC03826 | ||||
Sequence: V → A | ||||||
Sequence conflict | 262 | in Ref. 4; BAC03826 | ||||
Sequence: I → T | ||||||
Alternative sequence | VSP_009224 | 458-495 | in isoform 4 | |||
Sequence: ENQYAQWMAACMLASKGKTMADSSYQPEVLNILSFLRM → VSKTPKILSHFTSTKPKSKTQKCFHKFRALLCHSAIAL | ||||||
Alternative sequence | VSP_009225 | 496-677 | in isoform 4 | |||
Sequence: Missing | ||||||
Alternative sequence | VSP_003810 | 541-554 | in isoform 2 | |||
Sequence: QNVAQMPLVEAKLR → LQAPFHSYRSLSHL | ||||||
Alternative sequence | VSP_003811 | 555-677 | in isoform 2 | |||
Sequence: Missing |
Keywords
- Coding sequence diversity
- Technical term
Sequence databases
Nucleotide Sequence | Protein Sequence | Molecule Type | Status | |
---|---|---|---|---|
AF443278 EMBL· GenBank· DDBJ | AAN75822.1 EMBL· GenBank· DDBJ | mRNA | ||
AY137240 EMBL· GenBank· DDBJ | AAM94174.1 EMBL· GenBank· DDBJ | mRNA | ||
AK000123 EMBL· GenBank· DDBJ | BAA90957.1 EMBL· GenBank· DDBJ | mRNA | ||
AK000747 EMBL· GenBank· DDBJ | BAA91358.1 EMBL· GenBank· DDBJ | mRNA | Different initiation | |
AK092195 EMBL· GenBank· DDBJ | BAC03826.1 EMBL· GenBank· DDBJ | mRNA | Different initiation | |
AL118505 EMBL· GenBank· DDBJ | - | Genomic DNA | No translation available. | |
CH471133 EMBL· GenBank· DDBJ | EAX10392.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
CH471133 EMBL· GenBank· DDBJ | EAX10393.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
BC035882 EMBL· GenBank· DDBJ | AAH35882.1 EMBL· GenBank· DDBJ | mRNA |