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Protein

Fermitin family homolog 1

Gene

FERMT1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

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.3 Publications

GO - Molecular functioni

GO - Biological processi

Keywordsi

Biological processCell adhesion

Names & Taxonomyi

Protein namesi
Recommended name:
Fermitin family homolog 1
Alternative name(s):
Kindlerin
Kindlin syndrome protein
Kindlin-1
Unc-112-related protein 1
Gene namesi
Name:FERMT1
Synonyms:C20orf42, KIND1, URP1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 20

Organism-specific databases

EuPathDBiHostDB:ENSG00000101311.15
HGNCiHGNC:15889 FERMT1
MIMi607900 gene
neXtProtiNX_Q9BQL6

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Cell junction, Cell membrane, Cell projection, Cytoplasm, Cytoskeleton, Membrane

Pathology & Biotechi

Involvement in diseasei

Kindler syndrome (KNDLRS)3 Publications
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).1 Publication
Disease descriptionAn 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.
See also OMIM:173650
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_066942100Missing in KNDLRS. 1 Publication1
Natural variantiVAR_066943400S → P in KNDLRS. 1 PublicationCorresponds to variant dbSNP:rs869312718EnsemblClinVar.1
Natural variantiVAR_066944559W → R in KNDLRS. 1 PublicationCorresponds to variant dbSNP:rs869312719EnsemblClinVar.1
Natural variantiVAR_066945623Missing in KNDLRS. 1 Publication1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNETi55612
MalaCardsiFERMT1
MIMi173650 phenotype
OpenTargetsiENSG00000101311
Orphaneti2907 Hereditary acrokeratotic poikiloderma, Weary type
2908 Kindler syndrome
PharmGKBiPA162388314

Polymorphism and mutation databases

BioMutaiFERMT1
DMDMi26392456

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002194521 – 677Fermitin family homolog 1Add BLAST677

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei170PhosphoserineCombined sources1
Modified residuei179PhosphoserineCombined sources1
Modified residuei361PhosphoserineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiQ9BQL6
MaxQBiQ9BQL6
PaxDbiQ9BQL6
PeptideAtlasiQ9BQL6
PRIDEiQ9BQL6
ProteomicsDBi78697
78698 [Q9BQL6-2]
78699 [Q9BQL6-3]
78700 [Q9BQL6-4]

PTM databases

iPTMnetiQ9BQL6
PhosphoSitePlusiQ9BQL6

Expressioni

Tissue specificityi

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.5 Publications

Inductioni

By TGFB1.1 Publication

Gene expression databases

BgeeiENSG00000101311 Expressed in 181 organ(s), highest expression level in mucosa of sigmoid colon
CleanExiHS_FERMT1
ExpressionAtlasiQ9BQL6 baseline and differential
GenevisibleiQ9BQL6 HS

Organism-specific databases

HPAiHPA039778
HPA041966

Interactioni

Subunit structurei

Interacts with the cytoplasmic domain of integrins ITGB1 and ITGB3.1 Publication

GO - Molecular functioni

Protein-protein interaction databases

BioGridi120752, 16 interactors
IntActiQ9BQL6, 5 interactors
MINTiQ9BQL6
STRINGi9606.ENSP00000217289

Structurei

3D structure databases

ProteinModelPortaliQ9BQL6
SMRiQ9BQL6
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini96 – 653FERMAdd BLAST558
Domaini377 – 473PHPROSITE-ProRule annotationAdd BLAST97

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi147 – 154Poly-Lys8

Domaini

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.1 Publication

Sequence similaritiesi

Belongs to the kindlin family.Curated

Phylogenomic databases

eggNOGiKOG3727 Eukaryota
ENOG410XS1B LUCA
GeneTreeiENSGT00390000013444
HOGENOMiHOG000231715
HOVERGENiHBG020688
InParanoidiQ9BQL6
KOiK17082
OMAiFLRMKNR
OrthoDBiEOG091G03SD
PhylomeDBiQ9BQL6
TreeFamiTF314677

Family and domain databases

CDDicd14473 FERM_B-lobe, 1 hit
cd01237 PH_fermitin, 1 hit
Gene3Di2.30.29.30, 2 hits
InterProiView protein in InterPro
IPR019749 Band_41_domain
IPR035963 FERM_2
IPR019748 FERM_central
IPR037843 Kindlin/fermitin
IPR011993 PH-like_dom_sf
IPR001849 PH_domain
IPR037837 PH_Kindlin/fermitin
PANTHERiPTHR16160 PTHR16160, 1 hit
PfamiView protein in Pfam
PF00373 FERM_M, 1 hit
PF00169 PH, 1 hit
SMARTiView protein in SMART
SM00295 B41, 1 hit
SM00233 PH, 1 hit
SUPFAMiSSF47031 SSF47031, 1 hit
PROSITEiView protein in PROSITE
PS00661 FERM_2, 1 hit
PS50003 PH_DOMAIN, 1 hit

Sequences (4+)i

Sequence statusi: Complete.

This entry describes 4 isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 4 described isoforms and 2 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q9BQL6-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MLSSTDFTFA SWELVVRVDH PNEEQQKDVT LRVSGDLHVG GVMLKLVEQI
60 70 80 90 100
NISQDWSDFA LWWEQKHCWL LKTHWTLDKY GVQADAKLLF TPQHKMLRLR
110 120 130 140 150
LPNLKMVRLR VSFSAVVFKA VSDICKILNI RRSEELSLLK PSGDYFKKKK
160 170 180 190 200
KKDKNNKEPI IEDILNLESS PTASGSSVSP GLYSKTMTPI YDPINGTPAS
210 220 230 240 250
STMTWFSDSP LTEQNCSILA FSQPPQSPEA LADMYQPRSL VDKAKLNAGW
260 270 280 290 300
LDSSRSLMEQ GIQEDEQLLL RFKYYSFFDL NPKYDAVRIN QLYEQARWAI
310 320 330 340 350
LLEEIDCTEE EMLIFAALQY HISKLSLSAE TQDFAGESEV DEIEAALSNL
360 370 380 390 400
EVTLEGGKAD SLLEDITDIP KLADNLKLFR PKKLLPKAFK QYWFIFKDTS
410 420 430 440 450
IAYFKNKELE QGEPLEKLNL RGCEVVPDVN VAGRKFGIKL LIPVADGMNE
460 470 480 490 500
MYLRCDHENQ YAQWMAACML ASKGKTMADS SYQPEVLNIL SFLRMKNRNS
510 520 530 540 550
ASQVASSLEN MDMNPECFVS PRCAKRHKSK QLAARILEAH QNVAQMPLVE
560 570 580 590 600
AKLRFIQAWQ SLPEFGLTYY LVRFKGSKKD DILGVSYNRL IKIDAATGIP
610 620 630 640 650
VTTWRFTNIK QWNVNWETRQ VVIEFDQNVF TAFTCLSADC KIVHEYIGGY
660 670
IFLSTRSKDQ NETLDEDLFH KLTGGQD
Length:677
Mass (Da):77,437
Last modified:June 1, 2001 - v1
Checksum:i7354DCD84C516F90
GO
Isoform 2 (identifier: Q9BQL6-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     541-554: QNVAQMPLVEAKLR → LQAPFHSYRSLSHL
     555-677: Missing.

Show »
Length:554
Mass (Da):63,235
Checksum:i51FE18BC2DFE0542
GO
Isoform 3 (identifier: Q9BQL6-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-447: Missing.

Show »
Length:230
Mass (Da):26,498
Checksum:i90D6CC89DBCA8BC6
GO
Isoform 4 (identifier: Q9BQL6-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     458-495: ENQYAQWMAA...VLNILSFLRM → VSKTPKILSH...ALLCHSAIAL
     496-677: Missing.

Note: No experimental confirmation available.
Show »
Length:495
Mass (Da):56,516
Checksum:i2DD52A11D0630636
GO

Computationally mapped potential isoform sequencesi

There are 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
G3V1L6G3V1L6_HUMAN
Chromosome 20 open reading frame 42...
FERMT1 C20orf42, hCG_1811061
420Annotation score:
Q5JWV4Q5JWV4_HUMAN
Fermitin family homolog 1
FERMT1
146Annotation score:

Sequence cautioni

The sequence BAA91358 differs from that shown. Reason: Erroneous initiation.Curated
The sequence BAC03826 differs from that shown. Reason: Erroneous initiation.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti117V → A in BAC03826 (PubMed:11780052).Curated1
Sequence conflicti262I → T in BAC03826 (PubMed:11780052).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_066942100Missing in KNDLRS. 1 Publication1
Natural variantiVAR_048368160I → T. Corresponds to variant dbSNP:rs16991866EnsemblClinVar.1
Natural variantiVAR_061035241V → A. Corresponds to variant dbSNP:rs55666319EnsemblClinVar.1
Natural variantiVAR_066943400S → P in KNDLRS. 1 PublicationCorresponds to variant dbSNP:rs869312718EnsemblClinVar.1
Natural variantiVAR_014398526R → K2 PublicationsCorresponds to variant dbSNP:rs2232074EnsemblClinVar.1
Natural variantiVAR_014399534A → T. Corresponds to variant dbSNP:rs2232078EnsemblClinVar.1
Natural variantiVAR_066944559W → R in KNDLRS. 1 PublicationCorresponds to variant dbSNP:rs869312719EnsemblClinVar.1
Natural variantiVAR_066945623Missing in KNDLRS. 1 Publication1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0038091 – 447Missing in isoform 3. 1 PublicationAdd BLAST447
Alternative sequenceiVSP_009224458 – 495ENQYA…SFLRM → VSKTPKILSHFTSTKPKSKT QKCFHKFRALLCHSAIAL in isoform 4. 1 PublicationAdd BLAST38
Alternative sequenceiVSP_009225496 – 677Missing in isoform 4. 1 PublicationAdd BLAST182
Alternative sequenceiVSP_003810541 – 554QNVAQ…EAKLR → LQAPFHSYRSLSHL in isoform 2. CuratedAdd BLAST14
Alternative sequenceiVSP_003811555 – 677Missing in isoform 2. CuratedAdd BLAST123

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF443278 mRNA Translation: AAN75822.1
AY137240 mRNA Translation: AAM94174.1
AK000123 mRNA Translation: BAA90957.1
AK000747 mRNA Translation: BAA91358.1 Different initiation.
AK092195 mRNA Translation: BAC03826.1 Different initiation.
AL118505 Genomic DNA No translation available.
CH471133 Genomic DNA Translation: EAX10392.1
CH471133 Genomic DNA Translation: EAX10393.1
BC035882 mRNA Translation: AAH35882.1
CCDSiCCDS13098.1 [Q9BQL6-1]
RefSeqiNP_060141.3, NM_017671.4 [Q9BQL6-1]
UniGeneiHs.472054

Genome annotation databases

EnsembliENST00000217289; ENSP00000217289; ENSG00000101311 [Q9BQL6-1]
GeneIDi55612
KEGGihsa:55612
UCSCiuc002wmr.3 human [Q9BQL6-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF443278 mRNA Translation: AAN75822.1
AY137240 mRNA Translation: AAM94174.1
AK000123 mRNA Translation: BAA90957.1
AK000747 mRNA Translation: BAA91358.1 Different initiation.
AK092195 mRNA Translation: BAC03826.1 Different initiation.
AL118505 Genomic DNA No translation available.
CH471133 Genomic DNA Translation: EAX10392.1
CH471133 Genomic DNA Translation: EAX10393.1
BC035882 mRNA Translation: AAH35882.1
CCDSiCCDS13098.1 [Q9BQL6-1]
RefSeqiNP_060141.3, NM_017671.4 [Q9BQL6-1]
UniGeneiHs.472054

3D structure databases

ProteinModelPortaliQ9BQL6
SMRiQ9BQL6
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi120752, 16 interactors
IntActiQ9BQL6, 5 interactors
MINTiQ9BQL6
STRINGi9606.ENSP00000217289

PTM databases

iPTMnetiQ9BQL6
PhosphoSitePlusiQ9BQL6

Polymorphism and mutation databases

BioMutaiFERMT1
DMDMi26392456

Proteomic databases

EPDiQ9BQL6
MaxQBiQ9BQL6
PaxDbiQ9BQL6
PeptideAtlasiQ9BQL6
PRIDEiQ9BQL6
ProteomicsDBi78697
78698 [Q9BQL6-2]
78699 [Q9BQL6-3]
78700 [Q9BQL6-4]

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000217289; ENSP00000217289; ENSG00000101311 [Q9BQL6-1]
GeneIDi55612
KEGGihsa:55612
UCSCiuc002wmr.3 human [Q9BQL6-1]

Organism-specific databases

CTDi55612
DisGeNETi55612
EuPathDBiHostDB:ENSG00000101311.15
GeneCardsiFERMT1
H-InvDBiHIX0015632
HGNCiHGNC:15889 FERMT1
HPAiHPA039778
HPA041966
MalaCardsiFERMT1
MIMi173650 phenotype
607900 gene
neXtProtiNX_Q9BQL6
OpenTargetsiENSG00000101311
Orphaneti2907 Hereditary acrokeratotic poikiloderma, Weary type
2908 Kindler syndrome
PharmGKBiPA162388314
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG3727 Eukaryota
ENOG410XS1B LUCA
GeneTreeiENSGT00390000013444
HOGENOMiHOG000231715
HOVERGENiHBG020688
InParanoidiQ9BQL6
KOiK17082
OMAiFLRMKNR
OrthoDBiEOG091G03SD
PhylomeDBiQ9BQL6
TreeFamiTF314677

Miscellaneous databases

ChiTaRSiFERMT1 human
GeneWikiiC20orf42
GenomeRNAii55612
PROiPR:Q9BQL6
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000101311 Expressed in 181 organ(s), highest expression level in mucosa of sigmoid colon
CleanExiHS_FERMT1
ExpressionAtlasiQ9BQL6 baseline and differential
GenevisibleiQ9BQL6 HS

Family and domain databases

CDDicd14473 FERM_B-lobe, 1 hit
cd01237 PH_fermitin, 1 hit
Gene3Di2.30.29.30, 2 hits
InterProiView protein in InterPro
IPR019749 Band_41_domain
IPR035963 FERM_2
IPR019748 FERM_central
IPR037843 Kindlin/fermitin
IPR011993 PH-like_dom_sf
IPR001849 PH_domain
IPR037837 PH_Kindlin/fermitin
PANTHERiPTHR16160 PTHR16160, 1 hit
PfamiView protein in Pfam
PF00373 FERM_M, 1 hit
PF00169 PH, 1 hit
SMARTiView protein in SMART
SM00295 B41, 1 hit
SM00233 PH, 1 hit
SUPFAMiSSF47031 SSF47031, 1 hit
PROSITEiView protein in PROSITE
PS00661 FERM_2, 1 hit
PS50003 PH_DOMAIN, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiFERM1_HUMAN
AccessioniPrimary (citable) accession number: Q9BQL6
Secondary accession number(s): D3DW10
, Q8IX34, Q8IYH2, Q9NWM2, Q9NXQ3
Entry historyiIntegrated into UniProtKB/Swiss-Prot: December 6, 2002
Last sequence update: June 1, 2001
Last modified: November 7, 2018
This is version 170 of the entry and version 1 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. Human chromosome 20
    Human chromosome 20: entries, gene names and cross-references to MIM
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Main funding by: National Institutes of Health

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