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] See more...

Aliases for FERMT1 Gene

Aliases for FERMT1 Gene

  • FERM Domain Containing Kindlin 1 2 3
  • Fermitin Family Member 1 2 3 5
  • KIND1 2 3 4
  • URP1 2 3 4
  • Fermitin Family Homolog 1 3 4
  • Unc-112-Related Protein 1 3 4
  • Kindlin Syndrome Protein 3 4
  • Kindlin-1 2 4
  • Kindlerin 3 4
  • C20orf42 3 4
  • UNC112A 2 3
  • Fermitin Family Homolog 1 (Drosophila) 2
  • Chromosome 20 Open Reading Frame 42 2
  • UNC112 Related Protein 1 3
  • Kinderlin 2
  • Kindlin 1 3
  • FLJ20116 2
  • DTGCU2 3
  • FERMT1 5

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 (FERM Domain Containing Kindlin 1) is a Protein Coding gene. Diseases associated with FERMT1 include Kindler Syndrome and Kindler Epidermolysis Bullosa. Among its related pathways are Cytoskeletal Signaling and Adhesion. An important paralog of this gene is FERMT2.

UniProtKB/Swiss-Prot Summary 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 CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for FERMT1 Gene

Genomics for FERMT1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for FERMT1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH20J006121 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE CraniofacialAtlas 260.5 +0.8 781 2.8 ZMYM3 KLF9 CEBPA POLR2A ZIC2 CHD4 MXD4 KLF11 ZNF341 ZFP64 FERMT1 HSALNG0128455 piR-50437-386 LRRN4
GH20J006114 Promoter/Enhancer 0.7 EPDnew ENCODE 260.7 +7.4 7432 2.5 HDAC2 ZNF507 FERMT1 HSALNG0128455 piR-50437-386 LRRN4
GH20J006093 Enhancer 1 Ensembl ENCODE 21.8 +28.6 28576 3 ZMYM3 CHD4 TRIM22 FOXA2 SMAD4 SAP130 RARA EBF1 RBM22 CREM FERMT1 CHGB FJ601684-266 ENSG00000278192 HSALNG0128452 LRRN4
GH20J006074 Enhancer 0.9 Ensembl ENCODE 16.4 +48.1 48105 3 YY1 HOMEZ CTCF SMAD4 RXRA SAP130 RARA ZNF316 THRB RBM22 FERMT1 ENSG00000235820 RPS18P1 CRLS1 MCM8 TRMT6 ENSG00000278192 HSALNG0128452 LRRN4 FJ601684-266
GH20J006162 Enhancer 0.8 Ensembl ENCODE 10.6 -39.0 -38991 0.8 YY1 FOXA2 RXRA ZBTB33 TCF7L2 JUND HNF4A REST MAX SP1 FERMT1 L13714-274 HSALNG0128460 HSALNG0128457 BMP2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around FERMT1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for FERMT1

Top Transcription factor binding sites by QIAGEN in the FERMT1 gene promoter:
  • AML1a
  • GATA-1
  • STAT1
  • STAT1alpha
  • STAT1beta
  • STAT2
  • STAT3
  • STAT4
  • STAT5A
  • STAT5B

Genomic Locations for FERMT1 Gene

Latest Assembly
chr20:6,074,845-6,123,609
(GRCh38/hg38)
Size:
48,765 bases
Orientation:
Minus strand

Previous Assembly
chr20:6,055,492-6,103,677
(GRCh37/hg19 by Entrez Gene)
Size:
48,186 bases
Orientation:
Minus strand

chr20:6,055,492-6,104,191
(GRCh37/hg19 by Ensembl)
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

Post-translational modifications for FERMT1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for FERMT1 Gene

No data available for DME Specific Peptides for FERMT1 Gene

Domains & Families for FERMT1 Gene

Gene Families for FERMT1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins

Protein Domains for FERMT1 Gene

Suggested Antigen Peptide Sequences for FERMT1 Gene

GenScript: Design optimal peptide antigens:
  • Unc-112-related protein 1 (FERM1_HUMAN)
  • FERMT1 protein (Q49AC8_HUMAN)
  • DTGCU2 (Q54A15_HUMAN)

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.
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.

Phenotypes From GWAS Catalog for FERMT1 Gene

Gene Ontology (GO) - Molecular Function for FERMT1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005178 integrin binding IBA 21873635
GO:0051015 actin filament binding IEA --
genes like me logo Genes that share ontologies with FERMT1: view
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:

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for FERMT1

No data available for Enzyme Numbers (IUBMB) , 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for FERMT1 gene
Compartment Confidence
plasma membrane 5
cytoskeleton 5
cytosol 5
nucleus 3
extracellular 2
endosome 1

Gene Ontology (GO) - Cellular Components for FERMT1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA,IDA 18528435
GO:0005829 cytosol IDA 17012746
GO:0005856 cytoskeleton IEA --
GO:0005886 plasma membrane IEA --
GO:0005925 focal adhesion IDA 18528435
genes like me logo Genes that share ontologies with FERMT1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for FERMT1 Gene

Pathways & Interactions for FERMT1 Gene

PathCards logo

SuperPathways for FERMT1 Gene

SuperPathway 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

GO ID Qualified GO term Evidence PubMed IDs
GO:0001954 positive regulation of cell-matrix adhesion IEA --
GO:0007155 cell adhesion IEA,IGI 21356350
GO:0007160 cell-matrix adhesion IBA 21873635
GO:0007229 integrin-mediated signaling pathway IEA --
GO:0010629 negative regulation of gene expression IEA --
genes like me logo Genes that share ontologies with FERMT1: view

No data available for SIGNOR curated interactions for FERMT1 Gene

Drugs & Compounds for FERMT1 Gene

No Compound Related Data Available

Transcripts for FERMT1 Gene

mRNA/cDNA for FERMT1 Gene

1 REFSEQ mRNAs :
13 NCBI additional mRNA sequence :
4 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for FERMT1

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

Expression for FERMT1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE 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, MaxQB, and MOPED for FERMT1 Gene



Protein tissue co-expression partners for FERMT1 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for FERMT1

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.

Evidence on tissue expression from TISSUES for FERMT1 Gene

  • Intestine(4.6)
  • Nervous system(4.4)
  • Skin(2.5)
  • Kidney(2.3)

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

Primer products for research

Orthologs for FERMT1 Gene

This gene was present in the common ancestor of animals.

Orthologs for FERMT1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia FERMT1 29
  • 96.8 (n)
Dog
(Canis familiaris)
Mammalia FERMT1 29 30
  • 89.91 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia FERMT1 29 30
  • 89.51 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Fermt1 29 16 30
  • 85.23 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia FERMT1 30
  • 85 (a)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Fermt1 29
  • 84.93 (n)
Platypus
(Ornithorhynchus anatinus)
Mammalia FERMT1 30
  • 78 (a)
OneToOne
Chicken
(Gallus gallus)
Aves FERMT1 29 30
  • 76.42 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia FERMT1 30
  • 77 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia fermt1 29
  • 72.37 (n)
Zebrafish
(Danio rerio)
Actinopterygii fermt1 29 30
  • 66.62 (n)
OneToOne
Fruit Fly
(Drosophila melanogaster)
Insecta Fit1 30
  • 42 (a)
ManyToMany
Fit2 30
  • 39 (a)
ManyToMany
Worm
(Caenorhabditis elegans)
Secernentea unc-112 30
  • 40 (a)
OneToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 30
  • 39 (a)
OneToMany
Species where no ortholog for FERMT1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (Ciona intestinalis)
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for FERMT1: view image
Alliance of Genome Resources:
Additional Orthologs for FERMT1

Paralogs for FERMT1 Gene

Paralogs for FERMT1 Gene

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

  • FERM1_HUMAN
  • G3V1L6_HUMAN
  • Q49AC8_HUMAN
  • Q5JWV4_HUMAN
genes like me logo Genes that share paralogs with FERMT1: view

Variants for FERMT1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for FERMT1 Gene

SNP ID Clinical significance and condition Chr 20 pos Variation AA Info Type
1036797 Uncertain Significance: not provided 6,110,373(-) G/C
NM_017671.5(FERMT1):c.671C>G (p.Pro224Arg)
MISSENSE
1046812 Uncertain Significance: not provided 6,097,562(-) A/C
NM_017671.5(FERMT1):c.919T>G (p.Cys307Gly)
MISSENSE
1047996 Pathogenic: Kindler's syndrome 6,115,855(-) G/C
NM_017671.5(FERMT1):c.341C>G (p.Ser114Ter)
NONSENSE
1047997 Pathogenic: Kindler's syndrome 6,088,964(-) C/T
NM_017671.5(FERMT1):c.1264+1G>A
SPLICE_DONOR
1047998 Pathogenic: Kindler's syndrome 6,085,281(-) G/A
NM_017671.5(FERMT1):c.1378C>T (p.Gln460Ter)
NONSENSE

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for FERMT1 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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

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

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)

Additional Variant Information for FERMT1 Gene

Human Gene Mutation Database (HGMD)
FERMT1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
FERMT1
Leiden Open Variation Database (LOVD)
FERMT1

SNP Genotyping and Copy Number Assays for research

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

Disorders for FERMT1 Gene

MalaCards: The human disease database

(13) MalaCards diseases for FERMT1 Gene - From: OMI, CVR, GTR, ORP, SWI, COP, and GCD

Disorder Aliases PubMed IDs
kindler syndrome
  • kndlrs
kindler epidermolysis bullosa
  • congenital bullous poikiloderma
skin atrophy
  • atrophic condition of skin
leukocyte adhesion deficiency, type iii
  • lad3
leukocyte adhesion deficiency, type i
  • lad
- elite association - COSMIC cancer census association via MalaCards

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 variants 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}.

Additional Disease Information for FERMT1

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
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 EJ … Mazzarella R (Biochimica et biophysica acta 2003) 2 3 4 22
  2. Identification of mutations in a new gene encoding a FERM family protein with a pleckstrin homology domain in Kindler syndrome. (PMID: 12668616) Jobard F … Fischer J (Human molecular genetics 2003) 3 4 22 72
  3. Loss of kindlin-1, a human homolog of the Caenorhabditis elegans actin-extracellular-matrix linker protein UNC-112, causes Kindler syndrome. (PMID: 12789646) Siegel DH … Epstein EH (American journal of human genetics 2003) 2 3 4 22
  4. The structure of the N-terminus of kindlin-1: a domain important for alphaiibbeta3 integrin activation. (PMID: 19804783) Goult BT … Critchley DR (Journal of molecular biology 2009) 3 4 22
  5. Kindlin-1 is a phosphoprotein involved in regulation of polarity, proliferation, and motility of epidermal keratinocytes. (PMID: 17012746) Herz C … Has C (The Journal of biological chemistry 2006) 3 4 22

Products for FERMT1 Gene

Sources for FERMT1 Gene