• Gene id: 55612

Gene Summary

• Gene Symbol: FERMT1   Gene   UCSC   Ensembl
• Aliases: C20orf42, DTGCU2, KIND1, UNC112A, URP1
• Gene name: fermitin family member 1
• Alternate names: fermitin family homolog 1, UNC112 related protein 1, kindlerin, kindlin 1, kindlin syndrome protein, unc-112-related protein 1,
• Gene location: 20p12.3 (152898131: 152973480)     Exons: 28     NC_000023.11
• Gene summary(Entrez): 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
• OMIM: 607900

Protein Summary

• Protein general information: Q9BQL6  
  • Name: Fermitin family homolog 1 (Kindlerin) (Kindlin syndrome protein) (Kindlin 1) (Unc 112 related protein 1)
  • Length: 677  
  • Mass: 77437
  • 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 so
• Sequence:

  MLSSTDFTFASWELVVRVDHPNEEQQKDVTLRVSGDLHVGGVMLKLVEQINISQDWSDFALWWEQKHCWLLKTHW
  TLDKYGVQADAKLLFTPQHKMLRLRLPNLKMVRLRVSFSAVVFKAVSDICKILNIRRSEELSLLKPSGDYFKKKK
  KKDKNNKEPIIEDILNLESSPTASGSSVSPGLYSKTMTPIYDPINGTPASSTMTWFSDSPLTEQNCSILAFSQPP
  QSPEALADMYQPRSLVDKAKLNAGWLDSSRSLMEQGIQEDEQLLLRFKYYSFFDLNPKYDAVRINQLYEQARWAI
  LLEEIDCTEEEMLIFAALQYHISKLSLSAETQDFAGESEVDEIEAALSNLEVTLEGGKADSLLEDITDIPKLADN
  LKLFRPKKLLPKAFKQYWFIFKDTSIAYFKNKELEQGEPLEKLNLRGCEVVPDVNVAGRKFGIKLLIPVADGMNE
  MYLRCDHENQYAQWMAACMLASKGKTMADSSYQPEVLNILSFLRMKNRNSASQVASSLENMDMNPECFVSPRCAK
  RHKSKQLAARILEAHQNVAQMPLVEAKLRFIQAWQSLPEFGLTYYLVRFKGSKKDDILGVSYNRLIKIDAATGIP
  VTTWRFTNIKQWNVNWETRQVVIEFDQNVFTAFTCLSADCKIVHEYIGGYIFLSTRSKDQNETLDEDLFHKLTGG
  QD

• Structural information:
  • Protein Domains: (96..65-)
    (/note="FERM-)
    (377..47-)
    (/note="PH-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00145"-)
  • Interpro: IPR019749  IPR035963  IPR019748  IPR037843  IPR040790   IPR011993  IPR001849  IPR037837  
  • Prosite: PS00661 PS50003
  • CDD: cd14473 cd01237
  • STRING: ENSP00000217289
• Other Databases: GeneCards:  FERMT1  Malacards:  FERMT1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0007160	cell-matrix adhesion	IBA	biological process
GO:0030055	cell-substrate junction	IBA	cellular component
GO:0005925	focal adhesion	IBA	cellular component
GO:0005178	integrin binding	IBA	molecular function
GO:0090162	establishment of epithelial cell polarity	IDA	biological process
GO:0051546	keratinocyte migration	IDA	biological process
GO:0043616	keratinocyte proliferation	IDA	biological process
GO:0030054	cell junction	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0007155	cell adhesion	IDA	biological process
GO:0007229	integrin-mediated signaling pathway	IEA	biological process
GO:0042995	cell projection	IEA	cellular component
GO:0030054	cell junction	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0007155	cell adhesion	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0001954	positive regulation of cell-matrix adhesion	IEA	biological process
GO:0033630	positive regulation of cell adhesion mediated by integrin	IEA	biological process
GO:0042308	negative regulation of protein import into nucleus	IEA	biological process
GO:0051015	actin filament binding	IEA	molecular function
GO:0051886	negative regulation of timing of anagen	IEA	biological process
GO:2001203	positive regulation of transforming growth factor-beta secretion	IEA	biological process
GO:0005925	focal adhesion	IEA	cellular component
GO:0010629	negative regulation of gene expression	IEA	biological process
GO:0030511	positive regulation of transforming growth factor beta receptor signaling pathway	IEA	biological process
GO:0071711	basement membrane organization	IEA	biological process
GO:0090090	negative regulation of canonical Wnt signaling pathway	IEA	biological process
GO:2000647	negative regulation of stem cell proliferation	IEA	biological process
GO:0032587	ruffle membrane	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0005925	focal adhesion	IEA	cellular component

Diseases

Associated diseases	References
Kindler syndrome	KEGG:H00588
Kindler syndrome	KEGG:H00588
telangiectasis	PMID:12668616
Vesiculobullous skin disease	PMID:12668616
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881