Aliases for FERMT1 Gene
Aliases for FERMT1 Gene
External Ids for FERMT1 Gene
- HGNC: 15889
- Entrez Gene: 55612
- Ensembl: ENSG00000101311
- OMIM: 607900
- UniProtKB: Q9BQL6
Previous HGNC Symbols for FERMT1 Gene
- C20orf42
Previous GeneCards Identifiers for FERMT1 Gene
- GC20M006004
- GC20M006055
Summaries for FERMT1 Gene
-
This gene encodes a member of the fermitin family, and contains a FERM domain and a pleckstrin homology domain. The encoded protein is involved in integrin signaling and linkage of the actin cytoskeleton to the extracellular matrix. Mutations in this gene have been linked to Kindler syndrome. [provided by RefSeq, Dec 2009]
GeneCards Summary for FERMT1 Gene
FERMT1 (Fermitin Family Member 1) is a Protein Coding gene. Diseases associated with FERMT1 include Kindler Syndrome and Hereditary Acrokeratotic Poikiloderma, Weary Type. Among its related pathways are Adhesion and Cytoskeletal Signaling. An important paralog of this gene is FERMT2.
UniProtKB/Swiss-Prot for FERMT1 Gene
-
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.
No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for FERMT1 Gene
Genomics for FERMT1 Gene
Regulatory Elements for FERMT1 Gene
Enhancers for FERMT1 Gene
| GeneHancer Identifier | Enhancer Score | Enhancer Sources | Gene-Enhancer Score | TSS distance (kb) | Number of Genes Away | Size (kb) | Transcription Factor Binding Sites within enhancer | Gene Targets for Enhancer |
|---|---|---|---|---|---|---|---|---|
| GH20G006093 | 0.9 | ENCODE | 21.8 | +28.5 | 28512 | 3.0 | ELF3 FOXA2 ARID4B ZBTB40 THRB RAD21 YY1 RARA RELB IKZF2 | FERMT1 CHGB GC20P006069 GC20M006119 |
| GH20G006074 | 1.1 | Ensembl ENCODE | 16.4 | +48.0 | 48016 | 3.0 | PKNOX1 ARID4B THRB RAD21 RARA YY1 ZNF766 ZNF143 MIXL1 THAP11 | FERMT1 RPS18P1 ENSG00000235820 CRLS1 TRMT6 MCM8 GC20P006069 GC20M006119 |
| GH20G006121 | 1 | ENCODE | 10.6 | +0.7 | 716 | 2.8 | FOXA2 MLX ARID4B SIN3A DMAP1 ZNF48 SLC30A9 GLIS2 SP5 ZHX2 | FERMT1 GC20M006119 |
| GH20G006114 | 0.8 | ENCODE | 10.6 | +7.4 | 7368 | 2.5 | ELF3 SOX13 FOXA2 SAP130 CHD4 ZNF507 RARA GATAD1 NR2F6 CREM | FERMT1 GC20M006119 GC20P006069 |
| GH20G006067 | 0.5 | ENCODE | 16.1 | +55.7 | 55657 | 1.3 | ATF3 CEBPB ZMYM3 HNF4A ATF2 | FERMT1 MCM8 TRMT6 ENSG00000278192 LRRN4 |
- Elite enhancer and/or Elite enhancer-gene association
Download GeneHancer data dump
Enhancers around FERMT1 on UCSC Golden Path with GeneCards custom track
- Transcription factor binding sites by QIAGEN in the FERMT1 gene promoter:
Regulatory Element Products
Genomic Location for FERMT1 Gene
- Chromosome:
- 20
- Start:
- 6,074,845 bp from pter
- End:
- 6,123,544 bp from pter
- Size:
- 48,700 bases
- Orientation:
- Minus strand
Genomic View for FERMT1 Gene
Genes around FERMT1 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 20p12.3 by Ensembl
- 20p12.3 by Entrez Gene
- 20p12.3 by HGNC
FERMT1 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for FERMT1 Gene
Proteins for FERMT1 Gene
-
Protein details for FERMT1 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q9BQL6-FERM1_HUMAN
- Recommended name:
- Fermitin family homolog 1
- Protein Accession:
- Q9BQL6
- D3DW10
- Q8IX34
- Q8IYH2
- Q9NWM2
- Q9NXQ3
Protein attributes for FERMT1 Gene
- Size:
- 677 amino acids
- Molecular mass:
- 77437 Da
- Quaternary structure:
-
- Interacts with the cytoplasmic domain of integrins ITGB1 and ITGB3.
- SequenceCaution:
-
- Sequence=BAA91358.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=BAC03826.1; Type=Erroneous initiation; Evidence={ECO:0000305};
Protein Expression for FERMT1 Gene
Post-translational modifications for FERMT1 Gene
Other Protein References for FERMT1 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- Cell Signaling Technology (CST) Antibodies for FERMT1 (kindlin-1)
- Novus Biologicals Antibodies for FERMT1
- Invitrogen Antibodies for FERMT1
- antibodies-online Antibodies for FERMT1: See all 48
- GeneTex FERMT1 antibody for FERMT1
Protein Products
-
OriGene Purified Proteins for FERMT1
- Search Origene for MassSpec and Protein Over-expression Lysates for FERMT1
- Origene Custom Protein Services for FERMT1
- antibodies-online Proteins for FERMT1: See all 7
- Search antibodies-online for peptides
- Search GeneTex for Proteins for FERMT1
No data available for DME Specific Peptides for FERMT1 Gene
Domains & Families for FERMT1 Gene
Gene Families for FERMT1 Gene
Protein Domains for FERMT1 Gene
- InterPro:
- Blocks:
- ProtoNet:
Suggested Antigen Peptide Sequences for FERMT1 Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
Q9BQL6UniProtKB/Swiss-Prot:
FERM1_HUMAN :- 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.
- Belongs to the kindlin family.
- 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.
- Family:
-
- Belongs to the kindlin family.
Function for FERMT1 Gene
Molecular function for FERMT1 Gene
- UniProtKB/Swiss-Prot 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.
- UniProtKB/Swiss-Prot Induction:
- By TGFB1.
Phenotypes for FERMT1 Gene
- MGI mutant phenotypes for FERMT1:
- inferred from 2 alleles
- GenomeRNAi human phenotypes for FERMT1:
-
- Increased gamma-H2AX phosphorylation
- Negative genetic interaction between MUS81-/- and MUS81+/+
- Decreased viability in esophageal squamous lineage
- Decreased viability ratio
- Decreased shRNA abundance (Z-score < -2)
- Increased transferrin (TF) endocytosis
- Increased shRNA abundance (Z-score > 2)
- Increased G1 DNA content
- Negative genetic interaction between PTTG1-/- and PTTG1+/+
- Negative genetic interaction between BLM-/- and BLM+/+
Animal Models for FERMT1 Gene
- MGI Knock Outs for FERMT1:
-
- Fermt1 tm1Ref
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
- Cyagen custom Knockout/knockin (KOKI) mouse models for FERMT1
-
-
ViGene Biosciences lentiviral particle packaged cDNA for FERMT1 gene
-
ViGene Biosciences ready-to-package AAV shRNAs for FERMT1 gene
- Search ViGene Biosciences for FERMT1
CRISPR Products
-
OriGene CRISPR knockouts for FERMT1
-
Santa Cruz Biotechnology (SCBT) CRISPR for FERMT1
- GenScript: Design CRISPR guide RNA sequences for FERMT1
miRNA for FERMT1 Gene
- miRTarBase miRNAs that target FERMT1
miRNA Products
- Search ViGene Biosciences for FERMT1
Inhibitory RNA Products
- Origene shRNA, siRNA, and RNAi products in human, mouse, rat for FERMT1
- Browse OriGene Inhibitory RNA Products For FERMT1
-
ViGene Biosciences ready-to-package AAV shRNAs for FERMT1 gene
Clone Products
-
OriGene ORF clones in human for FERMT1
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for FERMT1
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- VectorBuilder custom plasmid, inducible vectors for FERMT1
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for FERMT1
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
Cell Line Products
-
Horizon Cell Lines for FERMT1
-
ViGene Biosciences adenoviral particle packaged cDNA for FERMT1 gene
-
ViGene Biosciences lentiviral particle packaged cDNA for FERMT1 gene
-
ViGene Biosciences ready-to-package AAV shRNAs for FERMT1 gene
No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Transcription Factor Targets and HOMER Transcription for FERMT1 Gene
Localization for FERMT1 Gene
Subcellular locations from UniProtKB/Swiss-Prot for FERMT1 Gene
- 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.
| Compartment | Confidence |
|---|---|
| plasma membrane | 5 |
| cytoskeleton | 5 |
| cytosol | 5 |
| nucleus | 3 |
| extracellular | 2 |
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005829 | cytosol | IDA | 17012746 |
| GO:0005856 | cytoskeleton | IEA | -- |
| GO:0005886 | plasma membrane | IEA | -- |
| GO:0005925 | focal adhesion | IEA | -- |
| GO:0016020 | membrane | IEA | -- |
Pathways & Interactions for FERMT1 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Adhesion |
-
|
|
| 2 | Cytoskeletal Signaling | ||
Pathways by source for FERMT1 Gene
2 Cell Signaling Technology pathways for FERMT1 Gene
Interacting Proteins for FERMT1 Gene
Selected Interacting proteins:
ENSP00000217289
Q9BQL6-FERM1_HUMAN
for FERMT1 Gene via
STRING
IID
MINT
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0001954 | positive regulation of cell-matrix adhesion | IEA | -- |
| GO:0007155 | cell adhesion | IEA,IDA | 17012746 |
| GO:0010629 | negative regulation of gene expression | IEA | -- |
| GO:0030511 | positive regulation of transforming growth factor beta receptor signaling pathway | IEA | -- |
| GO:0033630 | positive regulation of cell adhesion mediated by integrin | IEA | -- |
No data available for SIGNOR curated interactions for FERMT1 Gene
Transcripts for FERMT1 Gene
mRNA/cDNA for FERMT1 Gene
- (1) REFSEQ mRNAs :
- (12) Additional mRNA sequences :
- (121) Selected AceView cDNA sequences:
- (4) Ensembl transcripts including schematic representations, and UCSC links where relevant :
Unigene Clusters for FERMT1 Gene
CRISPR Products
-
OriGene CRISPR knockouts for FERMT1
-
Santa Cruz Biotechnology (SCBT) CRISPR for FERMT1
- GenScript: Design CRISPR guide RNA sequences for FERMT1
miRNA Products
- Search ViGene Biosciences for FERMT1
Inhibitory RNA Products
- Origene shRNA, siRNA, and RNAi products in human, mouse, rat for FERMT1
- Browse OriGene Inhibitory RNA Products For FERMT1
-
ViGene Biosciences ready-to-package AAV shRNAs for FERMT1 gene
Clone Products
-
OriGene ORF clones in human for FERMT1
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for FERMT1
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- VectorBuilder custom plasmid, inducible vectors for FERMT1
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for FERMT1
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
| ExUns: | 1a | · | 1b | · | 1c | ^ | 2a | · | 2b | · | 2c | ^ | 3 | ^ | 4a | · | 4b | ^ | 5a | · | 5b | ^ | 6 | ^ | 7 | ^ | 8a | · | 8b | ^ | 9 | ^ | 10 | ^ | 11 | ^ | 12 | ^ | 13 | ^ | 14 | ^ | 15 | ^ | 16a | · | 16b |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||
| SP2: | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||
| SP3: | |||||||||||||||||||||||||||||||||||||||||||||||
| SP4: | - | ||||||||||||||||||||||||||||||||||||||||||||||
| SP5: | |||||||||||||||||||||||||||||||||||||||||||||||
| SP6: |
Expression for FERMT1 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Blood (Hematopoietic System)
- Hematopoietic Stem Cells Hematopoietic Bone Marrow
- Hematopoietic Bone Marrow
-
Tooth (Integumentary System)
- Dental Placode Cells Dental Placode
-
Epithelial Cells
- Dental Placode Cells Dental Placode
-
Testis (Reproductive System)
- Leydig Cells Testis Interstitium
- Brain (Nervous System)
- Intestine (Gastrointestinal Tract)
- Pancreas (Endocrine System)
- Ovary (Reproductive System)
-
Colon (Gastrointestinal Tract)
mRNA differential expression in normal tissues according to GTEx for FERMT1 Gene
This gene is overexpressed in Adrenal Gland (x7.6), Esophagus - Mucosa (x5.9), Colon - Transverse (x4.8), Skin - Not Sun Exposed (Suprapubic) (x4.2), and Skin - Sun Exposed (Lower leg) (x4.2).
This gene is overexpressed in Heart (39.4) and Adrenal (13.6).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for FERMT1 Gene
NURSA nuclear receptor signaling pathways regulating expression of FERMT1 Gene:
FERMT1SOURCE GeneReport for Unigene cluster for FERMT1 Gene:
Hs.472054mRNA Expression by UniProt/SwissProt for FERMT1 Gene:
Q9BQL6-FERM1_HUMAN
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.
Evidence on tissue expression from TISSUES for FERMT1 Gene
- Intestine(4.6)
- Nervous system(4.3)
- Skin(2.8)
Phenotype-based relationships between genes and organs from Gene ORGANizer for FERMT1 Gene
Germ Layers:
- ectoderm
- endoderm
- mesoderm
Systems:
- cardiovascular
- digestive
- immune
- integumentary
- nervous
- reproductive
- respiratory
- skeletal muscle
- skeleton
Organs:
Head and neck:
- face
- head
- jaw
- lip
- mandible
- maxilla
- mouth
- salivary gland
- skull
- tongue
- tooth
Thorax:
- esophagus
- lung
- trachea
Abdomen:
- stomach
Pelvis:
- penis
Limb:
- digit
- finger
- foot
- hand
- lower limb
- nail
- toe
- upper limb
General:
- blood
- blood vessel
- coagulation system
- hair
- skin
- sweat gland
- white blood cell
Primer Products
-
OriGene qPCR primer pairs for FERMT1
Orthologs for FERMT1 Gene
This gene was present in the common ancestor of animals.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | FERMT1 34 |
|
||
| dog (Canis familiaris) |
Mammalia | FERMT1 34 35 |
|
||
| cow (Bos Taurus) |
Mammalia | FERMT1 34 35 |
|
||
| mouse (Mus musculus) |
Mammalia | Fermt1 34 16 35 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | FERMT1 35 |
|
OneToOne | |
| rat (Rattus norvegicus) |
Mammalia | Fermt1 34 |
|
||
| platypus (Ornithorhynchus anatinus) |
Mammalia | FERMT1 35 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | FERMT1 34 35 |
|
||
| lizard (Anolis carolinensis) |
Reptilia | FERMT1 35 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | fermt1 34 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | fermt1 34 35 |
|
||
| fruit fly (Drosophila melanogaster) |
Insecta | Fit1 35 |
|
ManyToMany | |
| Fit2 35 |
|
ManyToMany | |||
| worm (Caenorhabditis elegans) |
Secernentea | unc-112 35 |
|
OneToMany | |
| sea squirt (Ciona savignyi) |
Ascidiacea | -- 35 |
|
OneToMany |
- Species where no ortholog for FERMT1 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Ashbya gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- African clawed frog (Xenopus laevis)
- African malaria mosquito (Anopheles gambiae)
- Alicante grape (Vitis vinifera)
- alpha proteobacteria (Wolbachia pipientis)
- amoeba (Dictyostelium discoideum)
- Archea (Pyrococcus horikoshii)
- baker's yeast (Saccharomyces cerevisiae)
- barley (Hordeum vulgare)
- beta proteobacteria (Neisseria meningitidis)
- bread mold (Neurospora crassa)
- Chromalveolata (Phytophthora infestans)
- common water flea (Daphnia pulex)
- corn (Zea mays)
- E. coli (Escherichia coli)
- filamentous fungi (Aspergillus nidulans)
- Firmicute bacteria (Streptococcus pneumoniae)
- fission yeast (Schizosaccharomyces pombe)
- green algae (Chlamydomonas reinhardtii)
- honey bee (Apis mellifera)
- K. lactis yeast (Kluyveromyces lactis)
- loblloly pine (Pinus taeda)
- malaria parasite (Plasmodium falciparum)
- medicago trunc (Medicago Truncatula)
- moss (Physcomitrella patens)
- orangutan (Pongo pygmaeus)
- pig (Sus scrofa)
- rainbow trout (Oncorhynchus mykiss)
- rice (Oryza sativa)
- rice blast fungus (Magnaporthe grisea)
- schistosome parasite (Schistosoma mansoni)
- sea anemone (Nematostella vectensis)
- sea urchin (Strongylocentrotus purpuratus)
- sorghum (Sorghum bicolor)
- soybean (Glycine max)
- stem rust fungus (Puccinia graminis)
- sugarcane (Saccharum officinarum)
- thale cress (Arabidopsis thaliana)
- tomato (Lycopersicon esculentum)
- toxoplasmosis (Toxoplasma gondii)
- Trichoplax (Trichoplax adhaerens)
- wheat (Triticum aestivum)
Paralogs for FERMT1 Gene
(3) SIMAP similar genes for FERMT1 Gene using alignment to 4 proteins:
Variants for FERMT1 Gene
| SNP ID | Clin | Chr 20 pos | Sequence Context | AA Info | Type |
|---|---|---|---|---|---|
| VAR_066943 | Kindler syndrome (KNDLRS) [MIM:173650] | ||||
| VAR_066944 | Kindler syndrome (KNDLRS) [MIM:173650] | ||||
| rs121918292 | Pathogenic | 6,107,594(-) | GCATC(C/T)AAGAG | reference, stop-gained | |
| rs121918293 | Pathogenic | 6,107,570(-) | TCTTA(C/T)GATTT | reference, stop-gained | |
| rs121918294 | Pathogenic | 6,097,619(-) | CTGTC(C/T)GAATA | reference, stop-gained |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| esv3305840 | CNV | mobile element insertion | 20981092 |
| esv3426908 | CNV | insertion | 20981092 |
| esv3584434 | CNV | loss | 25503493 |
| nsv1116845 | CNV | deletion | 24896259 |
| nsv1123451 | CNV | deletion | 24896259 |
| nsv518036 | CNV | loss | 19592680 |
Residual Variation Intolerance Score:
23.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
15.78;
97.36% of all genes are more intolerant (likely to be disease-causing)
Relevant External Links for FERMT1 Gene
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for FERMT1 Gene
Disorders for FERMT1 Gene
(4) MalaCards diseases for FERMT1 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| kindler syndrome |
|
|
| hereditary acrokeratotic poikiloderma, weary type |
|
|
| skin atrophy |
|
|
| leukocyte adhesion deficiency, type iii |
|
|
Search FERMT1 in MalaCards
View complete list of genes associated with diseases
UniProtKB/Swiss-Prot
FERM1_HUMAN- 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 mutations 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}.
Relevant External Links for FERMT1
No data available for Genatlas for FERMT1 Gene
Publications for FERMT1 Gene
- URP1: a member of a novel family of PH and FERM domain-containing membrane-associated proteins is significantly over-expressed in lung and colon carcinomas. (PMID: 12697302) Weinstein E.J. … Mazzarella R. (Biochim. Biophys. Acta 2003) 2 3 4 22 64
- Loss of kindlin-1, a human homolog of the Caenorhabditis elegans actin-extracellular-matrix linker protein UNC-112, causes Kindler syndrome. (PMID: 12789646) Siegel D.H. … Epstein E.H. Jr. (Am. J. Hum. Genet. 2003) 2 3 4 22 64
- The structure of the N-terminus of kindlin-1: a domain important for alphaIIbbeta3 integrin activation. (PMID: 19804783) Goult B.T. … Critchley D.R. (J. Mol. Biol. 2009) 3 4 22 64
- Kindlin-1 is a phosphoprotein involved in regulation of polarity, proliferation, and motility of epidermal keratinocytes. (PMID: 17012746) Herz C. … Has C. (J. Biol. Chem. 2006) 3 4 22 64
- The Kindler syndrome protein is regulated by transforming growth factor-beta and involved in integrin-mediated adhesion. (PMID: 14634021) Kloeker S. … Beckerle M.C. (J. Biol. Chem. 2004) 3 4 22 64
Products for FERMT1 Gene
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- Gene Synthesis: Any Gene in Any Vector
- Vector-based siRNA and miRNA, Ready for Transfection
- Gene Mutant Library, Variants up to 10^11
- Plasmid Preparation
- GenScript Custom Peptide Services for FERMT1
- Cell Signaling Technology (CST) Antibodies for FERMT1 (kindlin-1)
- Search for Antibodies & Assays
- Sino Biological Human cDNA Clone for FERMT1
- Browse Sino Biological Cell Lysates
- Browse Sino Biological Proteins
- Sino Biological Antibodies
- Sino Biological ELISA Kits and Pair Sets
- Sino Biological Cell Lysates
- Sino Biological qPCR Primers
- Sino Biological CRO Services for Proteins, Antibodies and Genes
- Sino Biological Transfection Reagents
- Novus Biologicals Antibodies for FERMT1
- Novus Biologicals proteins and lysates for FERMT1
- Novus Biologicals
- Novus Biologicals Tissue Microarrays
- Invitrogen Antibodies for FERMT1
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- antibodies-online Antibodies for FERMT1: See all 48
- Search antibodies-online for kits
- antibodies-online Proteins for FERMT1: See all 7
- Search antibodies-online for peptides
- GeneTex FERMT1 antibody for FERMT1
- Search GeneTex for Proteins for FERMT1
- ViGene Biosciences adenoviral particle packaged cDNA for FERMT1 gene
- ViGene Biosciences lentiviral particle packaged cDNA for FERMT1 gene
- ViGene Biosciences ready-to-package AAV shRNAs for FERMT1 gene
- Search ViGene Biosciences for FERMT1
- Horizon Cell Lines for FERMT1
- Cyagen custom Knockout/knockin (KOKI) mouse models for FERMT1
- VectorBuilder custom plasmid, inducible vectors for FERMT1
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for FERMT1
- VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
Sources for FERMT1 Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) GO
- (12) TrEMBL
- (13) InterPro
- (14) ProtoNet
- (15) Blocks
- (16) MGI
- (17) IUBMB
- (18) KEGG
- (19) MINT
- (20) STRING
- (21) IntAct
- (22) Novoseek
- (23) PharmGKB
- (24) DrugBank
- (25) HMDB
- (26) UniGene
- (27) AceView
- (28) RNAdb
- (29) ASD
- (30) ECgene
- (31) GeneAnnot
- (32) CGAP SAGE
- (33) SOURCE
- (34) HomoloGene
- (35) PanEnsembl
- (36) euGenes
- (37) SGD
- (38) FlyBase
- (39) WormBase
- (40) Pseudogene
- (41) DGV
- (42) dbSNP
- (43) GenAtlas
- (44) GeneTests
- (45) HGMD
- (46) GAD
- (47) LSDB
- (48) BGMUT
- (49) HuGE
- (50) eBioscience
- (51) Atlas
- (52) Cell Signaling Technology
- (53) GenBank
- (54) H-invDB
- (55) HORDE
- (56) HUGE
- (57) IMGT
- (58) Leiden
- (59) MILLIPORE
- (60) miRBase
- (61) DME
- (62) NCBI
- (63) OriGene
- (64) PubMed
- (65) R&D Systems
- (66) TGDB
- (67) Tocris
- (68) Abcam
- (69) Novus
- (70) ProSpec
- (71) Sino Biological
- (72) GenScript
- (73) Qiagen
- (74) Cloud-Clone Corp.
- (75) Enzo Life Sciences
- (76) OCA
- (77) Proteopedia
- (78) MOPED
- (79) SPIRE
- (80) neXtProt
- (81) Reactome
- (82) GeneGo (Thomson Reuters)
- (83) fRNAdb
- (84) DISEASES
- (85) SIMAP
- (86) GenomeRNAi
- (87) LifeMap
- (88) miRTarBase
- (89) MalaCards
- (90) Invitrogen
- (91) BitterDB
- (92) Vector BioLabs
- (93) ESI-BIO
- (94) RefSeq
- (95) BioSystems
- (96) MaxQB
- (97) IUPHAR
- (98) BioGPS
- (99) Illumina
- (100) COMPARTMENTS
- (101) HOMER
- (102) PaxDb
- (103) ApexBio
- (104) Addgene
- (105) antibodies-online
- (106) CYP
- (107) NONCODE
- (108) SwitchGear Genomics
- (109) TreeFam
- (110) PathCards
- (111) GeneReviews
- (112) GeneTex
- (113) Taconic Biosciences
- (114) GTEx
- (115) ProteomicsDB
- (116) SCBT
- (117) DGIdb
- (118) ClinicalTrials
- (119) FDA Approved Drugs
- (120) RVIS
- (121) SIGNOR
- (122) diseasecard
- (123) NIH Rare Diseases
- (124) Orphanet
- (125) UMLS
- (126) GTR
- (127) Disease Ontology
- (128) Genetics Home Reference
- (129) MeSH
- (130) MedlinePlus
- (131) CDC
- (132) NINDS
- (133) NCBI Bookshelf
- (134) ClinVar
- (135) Gene Damage Index
- (136) ViGene Biosciences
- (137) HPO
- (138) UDN
- (139) VISTA
- (140) FANTOM5
- (141) ENCODE
- (142) ProSci
- (143) Horizon
- (144) NURSA
- (145) IID
- (146) Cyagen
- (147) VectorBuilder
- (148) SNPedia
- (149) BRCA Exchange
- (150) St John's Lab
- (151) CIViC
- (152) ProteoGenix
- (153) dbSUPER
- (154) TISSUES
- (155) Gene ORGANizer