Seroatlas · Human Serome Atlas

FERMT1

Fermitin family homolog 1

Also known as: C20orf42, FERM1_HUMAN, FLJ20116, KIND1, UNC112A, URP1

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession
Q9BQL6
Gene
FERMT1
Ensembl
ENSG00000101311
Chromosome
20
Canonical length
677 aa
Protein class
Disease related genes, Human disease related genes, Predicted intracellular proteins

OverviewNCBI 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]

Canonical amino-acid sequenceUniProt

677 residues, UniProt reviewed canonical sequence.

>Q9BQL6|FERMT1
     1  MLSSTDFTFA SWELVVRVDH PNEEQQKDVT LRVSGDLHVG GVMLKLVEQI NISQDWSDFA
    61  LWWEQKHCWL LKTHWTLDKY GVQADAKLLF TPQHKMLRLR LPNLKMVRLR VSFSAVVFKA
   121  VSDICKILNI RRSEELSLLK PSGDYFKKKK KKDKNNKEPI IEDILNLESS PTASGSSVSP
   181  GLYSKTMTPI YDPINGTPAS STMTWFSDSP LTEQNCSILA FSQPPQSPEA LADMYQPRSL
   241  VDKAKLNAGW LDSSRSLMEQ GIQEDEQLLL RFKYYSFFDL NPKYDAVRIN QLYEQARWAI
   301  LLEEIDCTEE EMLIFAALQY HISKLSLSAE TQDFAGESEV DEIEAALSNL EVTLEGGKAD
   361  SLLEDITDIP KLADNLKLFR PKKLLPKAFK QYWFIFKDTS IAYFKNKELE QGEPLEKLNL
   421  RGCEVVPDVN VAGRKFGIKL LIPVADGMNE MYLRCDHENQ YAQWMAACML ASKGKTMADS
   481  SYQPEVLNIL SFLRMKNRNS ASQVASSLEN MDMNPECFVS PRCAKRHKSK QLAARILEAH
   541  QNVAQMPLVE AKLRFIQAWQ SLPEFGLTYY LVRFKGSKKD DILGVSYNRL IKIDAATGIP
   601  VTTWRFTNIK QWNVNWETRQ VVIEFDQNVF TAFTCLSADC KIVHEYIGGY IFLSTRSKDQ
   661  NETLDEDLFH KLTGGQD

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against FERMT1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability
Cell surface
Secreted
No
Transmembrane segments
0
Mean surface accessibility (rSASA)
0.3
Highest tissue expression
30 nTPM

Expression across tissuesHPA

Tissue

  • rectum: 30 nTPM
  • colon: 19 nTPM
  • skin: 14 nTPM
  • duodenum: 12 nTPM
  • esophagus: 11 nTPM
  • parathyroid gland: 11 nTPM

Single-cell type

  • epicardial cells: 789 nCPM
  • oligodendrocyte progenitor cells: 356 nCPM
  • esophageal apical cells: 248 nCPM
  • esophageal suprabasal cells: 189 nCPM
  • esophageal basal cells: 134 nCPM
  • adrenal cortex cells: 125 nCPM

Immune cell

  • basophil: 0.2 nTPM
  • neutrophil: 0.2 nTPM
  • classical monocyte: 0 nTPM
  • eosinophil: 0 nTPM
  • gdT-cell: 0 nTPM
  • intermediate monocyte: 0 nTPM

Brain region

  • medulla oblongata: 5.8 nTPM
  • white matter: 5.8 nTPM
  • pons: 5.4 nTPM
  • midbrain: 5.2 nTPM
  • hypothalamus: 4.2 nTPM
  • spinal cord: 4.2 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about FERMT1.

Disease | AllUniProt

Conditions FERMT1 is implicated in, by any mechanism.

Disease | GeneticClinVar

51 pathogenic / likely-pathogenic of 629 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)
0.85
gnomAD pLI
0
gnomAD missense Z
0.78
DepMap mean gene effect
-0.05
DepMap dependency class
selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 6% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of FERMT1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads FERMT1 as an antibody target. Whether an autoantibody or antibody against FERMT1 could matter depends on whether native FERMT1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

FERMT1 is annotated at the cell surface, where native FERMT1 is exposed to circulating antibodies and is a prime autoantibody target that could block, deplete, or overstimulate it.

Annotation status

The present source text does not explicitly label FERMT1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/FERMT1. Study-independent annotations aggregated from UniProt, Human Protein Atlas, PubMed, IEDB, Pfam, InterPro, Gene Ontology, AlphaFold, gnomAD, DepMap, ClinVar, TCGA. Catalog release seroatlas-reviewed-human-uniprot-20260313.

Seroatlas is the reference for exploring autoantibody and antibody serology at the human-protein level: the autoreactome and human serome, multiplex serology (HuProt, HuScan, VirScan, PhIP-Seq).

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