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Q9BQL6

- FERM1_HUMAN

UniProt

Q9BQL6 - FERM1_HUMAN

Protein

Fermitin family homolog 1

Gene

FERMT1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 133 (01 Oct 2014)
      Sequence version 1 (01 Jun 2001)
      Previous versions | rss
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    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

    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. cytosol Source: UniProtKB
    3. filamentous actin Source: Ensembl
    4. focal adhesion Source: UniProtKB-SubCell
    5. ruffle membrane Source: UniProtKB-SubCell

    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 – 1701Phosphoserine2 Publications
    Modified residuei179 – 1791Phosphoserine2 Publications

    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

    ArrayExpressiQ9BQL6.
    BgeeiQ9BQL6.
    CleanExiHS_FERMT1.
    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, 250-322, 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.
    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

    MLSSTDFTFA SWELVVRVDH PNEEQQKDVT LRVSGDLHVG GVMLKLVEQI    50
    NISQDWSDFA LWWEQKHCWL LKTHWTLDKY GVQADAKLLF TPQHKMLRLR 100
    LPNLKMVRLR VSFSAVVFKA VSDICKILNI RRSEELSLLK PSGDYFKKKK 150
    KKDKNNKEPI IEDILNLESS PTASGSSVSP GLYSKTMTPI YDPINGTPAS 200
    STMTWFSDSP LTEQNCSILA FSQPPQSPEA LADMYQPRSL VDKAKLNAGW 250
    LDSSRSLMEQ GIQEDEQLLL RFKYYSFFDL NPKYDAVRIN QLYEQARWAI 300
    LLEEIDCTEE EMLIFAALQY HISKLSLSAE TQDFAGESEV DEIEAALSNL 350
    EVTLEGGKAD SLLEDITDIP KLADNLKLFR PKKLLPKAFK QYWFIFKDTS 400
    IAYFKNKELE QGEPLEKLNL RGCEVVPDVN VAGRKFGIKL LIPVADGMNE 450
    MYLRCDHENQ YAQWMAACML ASKGKTMADS SYQPEVLNIL SFLRMKNRNS 500
    ASQVASSLEN MDMNPECFVS PRCAKRHKSK QLAARILEAH QNVAQMPLVE 550
    AKLRFIQAWQ SLPEFGLTYY LVRFKGSKKD DILGVSYNRL IKIDAATGIP 600
    VTTWRFTNIK QWNVNWETRQ VVIEFDQNVF TAFTCLSADC KIVHEYIGGY 650
    IFLSTRSKDQ NETLDEDLFH KLTGGQD 677
    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, 250-322, 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.
    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

    ArrayExpressi Q9BQL6.
    Bgeei Q9BQL6.
    CleanExi HS_FERMT1.
    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

    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 1, 2014
    This is version 133 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