FERMT3

Protein identityUniProt · HPA

UniProt accession

Q86UX7

Gene

FERMT3

Ensembl

ENSG00000149781

Chromosome

11

Canonical length

667 aa

Protein class

Disease related genes, Human disease related genes, Plasma proteins, Predicted intracellular proteins

Subcellular location

Vesicles

OverviewNCBI Gene

Kindlins are a small family of proteins that mediate protein-protein interactions involved in integrin activation and thereby have a role in cell adhesion, migration, differentiation, and proliferation. The protein encoded by this gene has a key role in the regulation of hemostasis and thrombosis. This protein may also help maintain the membrane skeleton of erythrocytes. Mutations in this gene cause the autosomal recessive leukocyte adhesion deficiency syndrome-III (LAD-III). Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jan 2010]

Canonical amino-acid sequenceUniProt

667 residues, UniProt reviewed canonical sequence.

>Q86UX7|FERMT3
     1  MAGMKTASGD YIDSSWELRV FVGEEDPEAE SVTLRVTGES HIGGVLLKIV EQINRKQDWS
    61  DHAIWWEQKR QWLLQTHWTL DKYGILADAR LFFGPQHRPV ILRLPNRRAL RLRASFSQPL
   121  FQAVAAICRL LSIRHPEELS LLRAPEKKEK KKKEKEPEEE LYDLSKVVLA GGVAPALFRG
   181  MPAHFSDSAQ TEACYHMLSR PQPPPDPLLL QRLPRPSSLS DKTQLHSRWL DSSRCLMQQG
   241  IKAGDALWLR FKYYSFFDLD PKTDPVRLTQ LYEQARWDLL LEEIDCTEEE MMVFAALQYH
   301  INKLSQSGEV GEPAGTDPGL DDLDVALSNL EVKLEGSAPT DVLDSLTTIP ELKDHLRIFR
   361  IPRRPRKLTL KGYRQHWVVF KETTLSYYKS QDEAPGDPIQ QLNLKGCEVV PDVNVSGQKF
   421  CIKLLVPSPE GMSEIYLRCQ DEQQYARWMA GCRLASKGRT MADSSYTSEV QAILAFLSLQ
   481  RTGSGGPGNH PHGPDASAEG LNPYGLVAPR FQRKFKAKQL TPRILEAHQN VAQLSLAEAQ
   541  LRFIQAWQSL PDFGISYVMV RFKGSRKDEI LGIANNRLIR IDLAVGDVVK TWRFSNMRQW
   601  NVNWDIRQVA IEFDEHINVA FSCVSASCRI VHEYIGGYIF LSTRERARGE ELDEDLFLQL
   661  TGGHEAF

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against FERMT3 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

Intracellular

Secreted

No

Transmembrane segments

0

Mean surface accessibility (rSASA)

0.29

Highest tissue expression

125 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about FERMT3.

Disease | AllUniProt

Conditions FERMT3 is implicated in, by any mechanism.

• Leukocyte adhesion deficiency 3 (LAD3) MIM:612840

Disease | GeneticClinVar

25 pathogenic / likely-pathogenic of 624 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Leukocyte adhesion deficiency 3
• Leukocyte adhesion deficiency

Disease | ImmuneIEDB

Conditions an epitope on FERMT3 was assayed in.

• chronic myeloid leukemia T cell

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)

0.56

gnomAD pLI

0

gnomAD missense Z

1.51

DepMap mean gene effect

-0.26

DepMap dependency class

selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• cell-matrix adhesion
• integrin activation
• integrin-mediated signaling pathway
• leukocyte cell-cell adhesion
• platelet aggregation
• positive regulation of cell migration
• regulation of cell-cell adhesion mediated by integrin
• substrate adhesion-dependent cell spreading

Molecular functions

• integrin binding
• lipid binding

Cellular components

• cell-substrate junction
• extracellular exosome
• extracellular region
• membrane
• platelet alpha granule lumen
• podosome

Protein domainsUniProt · Pfam · InterPro

• Pleckstrin homology domain
• PH-like domain superfamily
• FERM central domain
• Band 4.1 domain
• FERM superfamily, second domain
• Kindlin/fermitin, PH domain
• Kindlin/fermitin
• Kindlin-2, N-terminal
• PH domain
• FERM central domain
• Kindlin-2 N-terminal domain

KeywordsUniProt

• Cell adhesion
• Cell junction
• Cell projection
• Phosphoprotein

InteractionsUniProt · HPA

Protein binding partners of FERMT3 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• ITGB1
• ITGB2
• ITGB3