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Aliases for FERMT1 Gene

Aliases for FERMT1 Gene

  • Fermitin Family Member 1 2 3 5
  • Unc-112-Related Protein 1 3 4
  • Kindlin Syndrome Protein 3 4
  • Kindlin-1 2 4
  • Kindlerin 3 4
  • C20orf42 3 4
  • KIND1 3 4
  • URP1 3 4
  • Fermitin Family Homolog 1 (Drosophila) 2
  • Chromosome 20 Open Reading Frame 42 2
  • UNC112 Related Protein 1 3
  • Kinderlin 2
  • Kindlin 1 3
  • UNC112A 3
  • DTGCU2 3

External Ids for FERMT1 Gene

Previous HGNC Symbols for FERMT1 Gene

  • C20orf42

Previous GeneCards Identifiers for FERMT1 Gene

  • GC20M006004
  • GC20M006055

Summaries for FERMT1 Gene

Entrez Gene Summary 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 FERMT3.

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.

Gene Wiki entry for FERMT1 Gene

No data available for 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 Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around FERMT1 on UCSC Golden Path with GeneCards custom track

Promoters for FERMT1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around FERMT1 on UCSC Golden Path with GeneCards custom track

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:
FERMT1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for FERMT1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene 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
    Secondary Accessions:
    • 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};

    Alternative splice isoforms for FERMT1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for FERMT1 Gene

Proteomics data for FERMT1 Gene at MOPED

Post-translational modifications for FERMT1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for FERMT1 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for FERMT1 (kindlin-1)

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

Suggested Antigen Peptide Sequences for FERMT1 Gene

Graphical View of Domain Structure for InterPro Entry

Q9BQL6

UniProtKB/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.
  • Contains 1 FERM domain.
  • Contains 1 PH domain.
Family:
  • Belongs to the kindlin family.
genes like me logo Genes that share domains with FERMT1: view

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.
genes like me logo Genes that share phenotypes with FERMT1: view

Human Phenotype Ontology for FERMT1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for FERMT1 Gene

MGI Knock Outs for FERMT1:

Animal Model Products

miRNA 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.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for FERMT1 Gene COMPARTMENTS Subcellular localization image for FERMT1 gene
Compartment Confidence
cytoskeleton 5
cytosol 5
plasma membrane 5
nucleus 3

Gene Ontology (GO) - Cellular Components for FERMT1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0030054 cell junction IDA 17012746
GO:0031941 filamentous actin IEA --
genes like me logo Genes that share ontologies with FERMT1: view

Pathways & Interactions for FERMT1 Gene

SuperPathways for FERMT1 Gene

Superpath Contained pathways
1 Adhesion
2 Cytoskeletal Signaling
genes like me logo Genes that share pathways with FERMT1: view

Pathways by source for FERMT1 Gene

2 Cell Signaling Technology pathways for FERMT1 Gene

Gene Ontology (GO) - Biological Process for FERMT1 Gene

None

No data available for SIGNOR curated interactions for FERMT1 Gene

Drugs & Compounds for FERMT1 Gene

No Compound Related Data Available

Transcripts for FERMT1 Gene

Unigene Clusters for FERMT1 Gene

Fermitin family member 1:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for FERMT1 Gene

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:

Relevant External Links for FERMT1 Gene

GeneLoc Exon Structure for
FERMT1
ECgene alternative splicing isoforms for
FERMT1

Expression for FERMT1 Gene

mRNA expression in normal human tissues for FERMT1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

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).

Protein differential expression in normal tissues from HIPED for FERMT1 Gene

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, MOPED, and MaxQB for FERMT1 Gene



SOURCE GeneReport for Unigene cluster for FERMT1 Gene Hs.472054

mRNA 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.
genes like me logo Genes that share expression patterns with FERMT1: view

Protein tissue co-expression partners for FERMT1 Gene

Primer Products

In Situ Assay Products

Orthologs for FERMT1 Gene

This gene was present in the common ancestor of animals.

Orthologs for FERMT1 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia FERMT1 35
  • 89.51 (n)
  • 91.73 (a)
FERMT1 36
  • 92 (a)
OneToOne
dog
(Canis familiaris)
Mammalia FERMT1 35
  • 89.91 (n)
  • 93.35 (a)
FERMT1 36
  • 91 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Fermt1 35
  • 85.23 (n)
  • 87.89 (a)
Fermt1 16
Fermt1 36
  • 88 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia FERMT1 35
  • 96.8 (n)
  • 95.95 (a)
rat
(Rattus norvegicus)
Mammalia Fermt1 35
  • 84.93 (n)
  • 88.63 (a)
oppossum
(Monodelphis domestica)
Mammalia FERMT1 36
  • 85 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia FERMT1 36
  • 78 (a)
OneToOne
chicken
(Gallus gallus)
Aves FERMT1 35
  • 76.42 (n)
  • 80.21 (a)
FERMT1 36
  • 80 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia FERMT1 36
  • 77 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia fermt1 35
  • 72.37 (n)
  • 77.18 (a)
zebrafish
(Danio rerio)
Actinopterygii fermt1 35
  • 66.62 (n)
  • 68.36 (a)
fermt1 36
  • 67 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta Fit1 36
  • 42 (a)
ManyToMany
Fit2 36
  • 39 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea unc-112 36
  • 40 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 39 (a)
OneToMany
Species with no ortholog for FERMT1:
  • 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)

Evolution for FERMT1 Gene

ENSEMBL:
Gene Tree for FERMT1 (if available)
TreeFam:
Gene Tree for FERMT1 (if available)

Paralogs for FERMT1 Gene

Paralogs for FERMT1 Gene

(3) SIMAP similar genes for FERMT1 Gene using alignment to 4 proteins:

genes like me logo Genes that share paralogs with FERMT1: view

Variants for FERMT1 Gene

Sequence variations from dbSNP and Humsavar for FERMT1 Gene

SNP ID Clin Chr 20 pos Sequence Context AA Info Type
rs2232074 - 6,085,082(-) AAAAA(A/G)ACACA reference, missense
rs2232078 - 6,084,158(-) TGGCC(A/G)CCCGG reference, missense
rs16991866 - 6,112,530(+) CAATT(A/G)TGGGT reference, missense
rs55666319 - 6,110,322(+) TATCA(A/G)CCAGA reference, missense
VAR_066943 Kindler syndrome (KINDS)

Structural Variations from Database of Genomic Variants (DGV) for FERMT1 Gene

Variant ID Type Subtype PubMed ID
esv270117 CNV Insertion 20981092
nsv518036 CNV Loss 19592680
nsv912647 CNV Loss 21882294
nsv912648 CNV Gain 21882294

Variation tolerance for FERMT1 Gene

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

HapMap Linkage Disequilibrium report
FERMT1
Human Gene Mutation Database (HGMD)
FERMT1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for FERMT1 Gene

Disorders for FERMT1 Gene

MalaCards: The human disease database

(5) 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 of kindler-weary
hereditary acrokeratotic poikiloderma, weary type
  • congenital poikiloderma with bullae, weary type
skin atrophy
  • atrophic condition of skin
photoparoxysmal response 1
  • photosensitivity disease
urbach-wiethe disease
  • lipoid proteinosis
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

FERM1_HUMAN
  • Kindler syndrome (KINDS) [MIM:173650]: 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

Genetic Association Database (GAD)
FERMT1
Human Genome Epidemiology (HuGE) Navigator
FERMT1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
FERMT1
genes like me logo Genes that share disorders with FERMT1: view

No data available for Genatlas for FERMT1 Gene

Publications for FERMT1 Gene

  1. 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 23 67
  2. 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 23
  3. The role of kindlins in cell biology and relevance to human disease. (PMID: 19854292) Lai-Cheong J.E. … McGrath J.A. (Int. J. Biochem. Cell Biol. 2010) 3 23
  4. Kindler syndrome pathogenesis and fermitin family homologue 1 (kindlin-1) function. (PMID: 19945623) D'Souza M.A. … McMillan J.R. (Dermatol Clin 2010) 3 23
  5. Kindlin-1 Is required for RhoGTPase-mediated lamellipodia formation in keratinocytes. (PMID: 19762715) Has C. … Bruckner-Tuderman L. (Am. J. Pathol. 2009) 3 23

Products for FERMT1 Gene

Sources for FERMT1 Gene

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