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Q9BQL6

- FERM1_HUMAN

UniProt

Q9BQL6 - FERM1_HUMAN

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Protein

Fermitin family homolog 1

Gene

FERMT1

Organism
Homo sapiens (Human)
Status
Reviewed - 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

  1. cell adhesion Source: UniProtKB
  2. establishment of epithelial cell polarity Source: UniProtKB
  3. keratinocyte migration Source: UniProtKB
  4. keratinocyte proliferation Source: UniProtKB
Complete GO annotation...

Keywords - Biological processi

Cell 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
ProteomesiUP000005640: Chromosome 20

Organism-specific databases

HGNCiHGNC:15889. FERMT1.

Subcellular locationi

Cytoplasmcytoskeleton. Cell junctionfocal adhesion. Cell projectionruffle membrane; Peripheral membrane protein; Cytoplasmic side
Note: Constituent of focal adhesions. Localized at the basal aspect of skin keratinocytes, close to the cell membrane. Colocalizes with filamentous actin. Upon TGFB1 treatment, it localizes to membrane ruffles.

GO - Cellular componenti

  1. cell junction Source: UniProtKB
  2. cell projection Source: UniProtKB-KW
  3. cytosol Source: UniProtKB
  4. filamentous actin Source: Ensembl
  5. focal adhesion Source: Ensembl
  6. plasma membrane Source: UniProtKB-KW
Complete GO annotation...

Keywords - Cellular componenti

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

Pathology & Biotechi

Involvement in diseasei

Kindler syndrome (KINDS) [MIM:173650]: 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.3 Publications
Note: 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
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti100 – 1001Missing in KINDS. 1 Publication
VAR_066942
Natural varianti400 – 4001S → P in KINDS. 1 Publication
VAR_066943
Natural varianti559 – 5591W → R in KINDS. 1 Publication
VAR_066944
Natural varianti623 – 6231Missing in KINDS. 1 Publication
VAR_066945

Keywords - Diseasei

Disease mutation

Organism-specific databases

MIMi173650. phenotype.
Orphaneti2907. Hereditary acrokeratotic poikiloderma, Weary type.
2908. Kindler syndrome.
PharmGKBiPA162388314.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 677677Fermitin family homolog 1PRO_0000219452Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei170 – 1701Phosphoserine1 Publication
Modified residuei179 – 1791Phosphoserine1 Publication

Keywords - PTMi

Phosphoprotein

Proteomic databases

MaxQBiQ9BQL6.
PaxDbiQ9BQL6.
PRIDEiQ9BQL6.

PTM databases

PhosphoSiteiQ9BQL6.

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

BgeeiQ9BQL6.
CleanExiHS_FERMT1.
ExpressionAtlasiQ9BQL6. baseline and differential.
GenevestigatoriQ9BQL6.

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. 1 interaction.
IntActiQ9BQL6. 2 interactions.
MINTiMINT-4538047.
STRINGi9606.ENSP00000217289.

Structurei

3D structure databases

ProteinModelPortaliQ9BQL6.
SMRiQ9BQL6. Positions 1-96, 370-497, 535-651.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini96 – 653558FERMAdd
BLAST
Domaini377 – 47397PHPROSITE-ProRule annotationAdd
BLAST

Compositional bias

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Compositional biasi147 – 1548Poly-Lys

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
Contains 1 FERM domain.Curated
Contains 1 PH domain.PROSITE-ProRule annotation

Phylogenomic databases

eggNOGiNOG238024.
GeneTreeiENSGT00390000013444.
HOGENOMiHOG000231715.
HOVERGENiHBG020688.
InParanoidiQ9BQL6.
KOiK17082.
OMAiVSPRCAK.
OrthoDBiEOG7T7GSC.
PhylomeDBiQ9BQL6.
TreeFamiTF314677.

Family and domain databases

Gene3Di1.20.80.10. 2 hits.
2.30.29.30. 2 hits.
InterProiIPR019749. Band_41_domain.
IPR014352. FERM/acyl-CoA-bd_prot_3-hlx.
IPR019748. FERM_central.
IPR018979. FERM_N.
IPR001849. PH_domain.
IPR011993. PH_like_dom.
[Graphical view]
PfamiPF00373. FERM_M. 1 hit.
PF09379. FERM_N. 1 hit.
[Graphical view]
SMARTiSM00295. B41. 1 hit.
SM00233. PH. 1 hit.
[Graphical view]
SUPFAMiSSF47031. SSF47031. 1 hit.
PROSITEiPS00661. FERM_2. 1 hit.
PS50003. PH_DOMAIN. 1 hit.
[Graphical view]

Sequences (4)i

Sequence statusi: Complete.

This entry describes 4 isoformsi produced by alternative splicing. Align

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 BAA91358.1 differs from that shown. Reason: Erroneous initiation.
The sequence BAC03826.1 differs from that shown. Reason: Erroneous initiation.

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti117 – 1171V → A in BAC03826. (PubMed:11780052)Curated
Sequence conflicti262 – 2621I → T in BAC03826. (PubMed:11780052)Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti100 – 1001Missing in KINDS. 1 Publication
VAR_066942
Natural varianti160 – 1601I → T.
Corresponds to variant rs16991866 [ dbSNP | Ensembl ].
VAR_048368
Natural varianti241 – 2411V → A.
Corresponds to variant rs55666319 [ dbSNP | Ensembl ].
VAR_061035
Natural varianti400 – 4001S → P in KINDS. 1 Publication
VAR_066943
Natural varianti526 – 5261R → K.2 Publications
Corresponds to variant rs2232074 [ dbSNP | Ensembl ].
VAR_014398
Natural varianti534 – 5341A → T.
Corresponds to variant rs2232078 [ dbSNP | Ensembl ].
VAR_014399
Natural varianti559 – 5591W → R in KINDS. 1 Publication
VAR_066944
Natural varianti623 – 6231Missing in KINDS. 1 Publication
VAR_066945

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 447447Missing in isoform 3. 1 PublicationVSP_003809Add
BLAST
Alternative sequencei458 – 49538ENQYA…SFLRM → VSKTPKILSHFTSTKPKSKT QKCFHKFRALLCHSAIAL in isoform 4. 1 PublicationVSP_009224Add
BLAST
Alternative sequencei496 – 677182Missing in isoform 4. 1 PublicationVSP_009225Add
BLAST
Alternative sequencei541 – 55414QNVAQ…EAKLR → LQAPFHSYRSLSHL in isoform 2. CuratedVSP_003810Add
BLAST
Alternative sequencei555 – 677123Missing in isoform 2. CuratedVSP_003811Add
BLAST

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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.
UCSCiuc002wmq.3. human. [Q9BQL6-3]
uc002wmr.3. human. [Q9BQL6-1]
uc002wms.3. human. [Q9BQL6-4]

Polymorphism databases

DMDMi26392456.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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 .
CCDSi CCDS13098.1. [Q9BQL6-1 ]
RefSeqi NP_060141.3. NM_017671.4. [Q9BQL6-1 ]
UniGenei Hs.472054.

3D structure databases

ProteinModelPortali Q9BQL6.
SMRi Q9BQL6. Positions 1-96, 370-497, 535-651.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 120752. 1 interaction.
IntActi Q9BQL6. 2 interactions.
MINTi MINT-4538047.
STRINGi 9606.ENSP00000217289.

PTM databases

PhosphoSitei Q9BQL6.

Polymorphism databases

DMDMi 26392456.

Proteomic databases

MaxQBi Q9BQL6.
PaxDbi Q9BQL6.
PRIDEi Q9BQL6.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000217289 ; ENSP00000217289 ; ENSG00000101311 . [Q9BQL6-1 ]
GeneIDi 55612.
KEGGi hsa:55612.
UCSCi uc002wmq.3. human. [Q9BQL6-3 ]
uc002wmr.3. human. [Q9BQL6-1 ]
uc002wms.3. human. [Q9BQL6-4 ]

Organism-specific databases

CTDi 55612.
GeneCardsi GC20M006055.
H-InvDB HIX0015632.
HGNCi HGNC:15889. FERMT1.
HPAi HPA039778.
HPA041966.
MIMi 173650. phenotype.
607900. gene.
neXtProti NX_Q9BQL6.
Orphaneti 2907. Hereditary acrokeratotic poikiloderma, Weary type.
2908. Kindler syndrome.
PharmGKBi PA162388314.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG238024.
GeneTreei ENSGT00390000013444.
HOGENOMi HOG000231715.
HOVERGENi HBG020688.
InParanoidi Q9BQL6.
KOi K17082.
OMAi VSPRCAK.
OrthoDBi EOG7T7GSC.
PhylomeDBi Q9BQL6.
TreeFami TF314677.

Miscellaneous databases

GeneWikii C20orf42.
GenomeRNAii 55612.
NextBioi 60184.
PROi Q9BQL6.
SOURCEi Search...

Gene expression databases

Bgeei Q9BQL6.
CleanExi HS_FERMT1.
ExpressionAtlasi Q9BQL6. baseline and differential.
Genevestigatori Q9BQL6.

Family and domain databases

Gene3Di 1.20.80.10. 2 hits.
2.30.29.30. 2 hits.
InterProi IPR019749. Band_41_domain.
IPR014352. FERM/acyl-CoA-bd_prot_3-hlx.
IPR019748. FERM_central.
IPR018979. FERM_N.
IPR001849. PH_domain.
IPR011993. PH_like_dom.
[Graphical view ]
Pfami PF00373. FERM_M. 1 hit.
PF09379. FERM_N. 1 hit.
[Graphical view ]
SMARTi SM00295. B41. 1 hit.
SM00233. PH. 1 hit.
[Graphical view ]
SUPFAMi SSF47031. SSF47031. 1 hit.
PROSITEi PS00661. FERM_2. 1 hit.
PS50003. PH_DOMAIN. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "URP1: a member of a novel family of PH and FERM domain-containing membrane-associated proteins is significantly over-expressed in lung and colon carcinomas."
    Weinstein E.J., Bourner M., Head R., Zakeri H., Bauer C., Mazzarella R.
    Biochim. Biophys. Acta 1637:207-216(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), TISSUE SPECIFICITY, VARIANT LYS-526.
    Tissue: Colon cancer.
  2. Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), INVOLVEMENT IN KINDS, SUBCELLULAR LOCATION, TISSUE SPECIFICITY.
  3. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
    Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
    , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
    Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3), PARTIAL NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2), VARIANT LYS-526.
    Tissue: Colon, Hepatoma and Teratocarcinoma.
  4. "The DNA sequence and comparative analysis of human chromosome 20."
    Deloukas P., Matthews L.H., Ashurst J.L., Burton J., Gilbert J.G.R., Jones M., Stavrides G., Almeida J.P., Babbage A.K., Bagguley C.L., Bailey J., Barlow K.F., Bates K.N., Beard L.M., Beare D.M., Beasley O.P., Bird C.P., Blakey S.E.
    , Bridgeman A.M., Brown A.J., Buck D., Burrill W.D., Butler A.P., Carder C., Carter N.P., Chapman J.C., Clamp M., Clark G., Clark L.N., Clark S.Y., Clee C.M., Clegg S., Cobley V.E., Collier R.E., Connor R.E., Corby N.R., Coulson A., Coville G.J., Deadman R., Dhami P.D., Dunn M., Ellington A.G., Frankland J.A., Fraser A., French L., Garner P., Grafham D.V., Griffiths C., Griffiths M.N.D., Gwilliam R., Hall R.E., Hammond S., Harley J.L., Heath P.D., Ho S., Holden J.L., Howden P.J., Huckle E., Hunt A.R., Hunt S.E., Jekosch K., Johnson C.M., Johnson D., Kay M.P., Kimberley A.M., King A., Knights A., Laird G.K., Lawlor S., Lehvaeslaiho M.H., Leversha M.A., Lloyd C., Lloyd D.M., Lovell J.D., Marsh V.L., Martin S.L., McConnachie L.J., McLay K., McMurray A.A., Milne S.A., Mistry D., Moore M.J.F., Mullikin J.C., Nickerson T., Oliver K., Parker A., Patel R., Pearce T.A.V., Peck A.I., Phillimore B.J.C.T., Prathalingam S.R., Plumb R.W., Ramsay H., Rice C.M., Ross M.T., Scott C.E., Sehra H.K., Shownkeen R., Sims S., Skuce C.D., Smith M.L., Soderlund C., Steward C.A., Sulston J.E., Swann R.M., Sycamore N., Taylor R., Tee L., Thomas D.W., Thorpe A., Tracey A., Tromans A.C., Vaudin M., Wall M., Wallis J.M., Whitehead S.L., Whittaker P., Willey D.L., Williams L., Williams S.A., Wilming L., Wray P.W., Hubbard T., Durbin R.M., Bentley D.R., Beck S., Rogers J.
    Nature 414:865-871(2001) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  5. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  6. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 4).
    Tissue: Brain.
  7. "Identification of mutations in a new gene encoding a FERM family protein with a pleckstrin homology domain in Kindler syndrome."
    Jobard F., Bouadjar B., Caux F., Hadj-Rabia S., Has C., Matsuda F., Weissenbach J., Lathrop M., Prud'homme J.-F., Fischer J.
    Hum. Mol. Genet. 12:925-935(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: INVOLVEMENT IN KINDS, TISSUE SPECIFICITY.
  8. "The Kindler syndrome protein is regulated by transforming growth factor-beta and involved in integrin-mediated adhesion."
    Kloeker S., Major M.B., Calderwood D.A., Ginsberg M.H., Jones D.A., Beckerle M.C.
    J. Biol. Chem. 279:6824-6833(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: FUNCTION, SUBCELLULAR LOCATION, TISSUE SPECIFICITY, INDUCTION, INTERACTION WITH ITGB1 AND ITGB3.
  9. "Kindlin-1 is a phosphoprotein involved in regulation of polarity, proliferation, and motility of epidermal keratinocytes."
    Herz C., Aumailley M., Schulte C., Schlotzer-Schrehardt U., Bruckner-Tuderman L., Has C.
    J. Biol. Chem. 281:36082-36090(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: FUNCTION, SUBCELLULAR LOCATION, TISSUE SPECIFICITY, PHOSPHORYLATION.
  10. Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-170 AND SER-179, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Cervix carcinoma.
  11. "The structure of the N-terminus of kindlin-1: a domain important for alphaIIbbeta3 integrin activation."
    Goult B.T., Bouaouina M., Harburger D.S., Bate N., Patel B., Anthis N.J., Campbell I.D., Calderwood D.A., Barsukov I.L., Roberts G.C., Critchley D.R.
    J. Mol. Biol. 394:944-956(2009) [PubMed] [Europe PMC] [Abstract]
    Cited for: FUNCTION, SUBCELLULAR LOCATION, DOMAIN.
  12. "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis."
    Olsen J.V., Vermeulen M., Santamaria A., Kumar C., Miller M.L., Jensen L.J., Gnad F., Cox J., Jensen T.S., Nigg E.A., Brunak S., Mann M.
    Sci. Signal. 3:RA3-RA3(2010) [PubMed] [Europe PMC] [Abstract]
    Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Cervix carcinoma.
  13. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
  14. Cited for: VARIANTS KINDS ARG-100 DEL; PRO-400; ARG-559 AND ILE-623 DEL.

Entry informationi

Entry nameiFERM1_HUMAN
AccessioniPrimary (citable) accession number: Q9BQL6
Secondary accession number(s): D3DW10
, Q8IX34, Q8IYH2, Q9NWM2, Q9NXQ3
Entry historyi
Integrated into UniProtKB/Swiss-Prot: December 6, 2002
Last sequence update: June 1, 2001
Last modified: October 29, 2014
This is version 134 of the entry and version 1 of the sequence. [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

External Data

Dasty 3