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Protein

Fermitin family homolog 1

Gene

FERMT1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-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 - 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

HGNCiHGNC:15889. FERMT1.

Subcellular locationi

GO - Cellular componenti

  • cell junction Source: UniProtKB
  • cytosol Source: UniProtKB
  • filamentous actin Source: Ensembl
  • focal adhesion Source: UniProtKB-SubCell
  • ruffle membrane Source: UniProtKB-SubCell

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:rs869312718Ensembl.1
Natural variantiVAR_066944559W → R in KNDLRS. 1 PublicationCorresponds to variant dbSNP:rs869312719Ensembl.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.

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.
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

Protein-protein interaction databases

BioGridi120752. 16 interactors.
IntActiQ9BQL6. 4 interactors.
MINTiMINT-4538047.
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.
OMAiFDQNVSI.
OrthoDBiEOG091G03SD.
PhylomeDBiQ9BQL6.
TreeFamiTF314677.

Family and domain databases

CDDicd14473. FERM_B-lobe. 1 hit.
Gene3Di1.20.80.10. 1 hit.
2.30.29.30. 1 hit.
InterProiView protein in InterPro
IPR019749. Band_41_domain.
IPR014352. FERM/acyl-CoA-bd_prot_3-hlx.
IPR019748. FERM_central.
IPR011993. PH_dom-like.
IPR001849. PH_domain.
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.
SSF50729. SSF50729. 2 hits.
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

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

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:rs16991866Ensembl.1
Natural variantiVAR_061035241V → A. Corresponds to variant dbSNP:rs55666319Ensembl.1
Natural variantiVAR_066943400S → P in KNDLRS. 1 PublicationCorresponds to variant dbSNP:rs869312718Ensembl.1
Natural variantiVAR_014398526R → K2 PublicationsCorresponds to variant dbSNP:rs2232074Ensembl.1
Natural variantiVAR_014399534A → T. Corresponds to variant dbSNP:rs2232078Ensembl.1
Natural variantiVAR_066944559W → R in KNDLRS. 1 PublicationCorresponds to variant dbSNP:rs869312719Ensembl.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. Translation: CAC03433.2.
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

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.

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: July 5, 2017
This is version 158 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. Human chromosome 20
    Human chromosome 20: entries, gene names and cross-references to MIM
  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. SIMILARITY comments
    Index of protein domains and families