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Q8BPB5

- FBLN3_MOUSE

UniProt

Q8BPB5 - FBLN3_MOUSE

Protein

EGF-containing fibulin-like extracellular matrix protein 1

Gene

Efemp1

Organism
Mus musculus (Mouse)
Status
Reviewed - Annotation score: 4 out of 5- Experimental evidence at transcript leveli
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    • History
      Entry version 108 (01 Oct 2014)
      Sequence version 1 (01 Mar 2003)
      Previous versions | rss
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    Functioni

    Binds EGFR, the EGF receptor, inducing EGFR autophosphorylation and the activation of downstream signaling pathways. May play a role in cell adhesion and migration. May function as a negative regulator of chondrocyte differentiation. In the olfactory epithelium, it may regulate glial cell migration, differentiation and the ability of glial cells to support neuronal neurite outgrowth By similarity.By similarity

    GO - Molecular functioni

    1. calcium ion binding Source: InterPro
    2. epidermal growth factor-activated receptor activity Source: UniProtKB
    3. epidermal growth factor receptor binding Source: UniProtKB

    GO - Biological processi

    1. epidermal growth factor receptor signaling pathway Source: UniProtKB
    2. negative regulation of chondrocyte differentiation Source: UniProtKB
    3. peptidyl-tyrosine phosphorylation Source: UniProtKB
    4. regulation of transcription, DNA-templated Source: UniProtKB

    Keywords - Molecular functioni

    Growth factor

    Keywords - Ligandi

    Calcium

    Enzyme and pathway databases

    ReactomeiREACT_198998. Molecules associated with elastic fibres.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    EGF-containing fibulin-like extracellular matrix protein 1
    Alternative name(s):
    Fibulin-3
    Short name:
    FIBL-3
    Gene namesi
    Name:Efemp1
    Synonyms:Fbln3
    OrganismiMus musculus (Mouse)
    Taxonomic identifieri10090 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresGliresRodentiaSciurognathiMuroideaMuridaeMurinaeMusMus
    ProteomesiUP000000589: Chromosome 11

    Organism-specific databases

    MGIiMGI:1339998. Efemp1.

    Subcellular locationi

    Secretedextracellular space By similarity. Secretedextracellular spaceextracellular matrix By similarity
    Note: Localizes to the lamina propria underneath the olfactory epithelium.By similarity

    GO - Cellular componenti

    1. extracellular space Source: UniProtKB
    2. proteinaceous extracellular matrix Source: UniProtKB-SubCell

    Keywords - Cellular componenti

    Extracellular matrix, Secreted

    Pathology & Biotechi

    Disruption phenotypei

    Mice are viable and have no overt phenotype at birth. However, they exhibit reduced reproductivity and an early onset of aging-associated phenotypes including reduced lifespan, decreased body mass, lordokyphosis, reduced hair growth and generalized fat, muscle and organ atrophy. They also display multiple hernias associated with a reduction of elastic fibers in facia, the thin layer of connective tissue maintaining and protecting structures throughout the body. However, there is no apparent macular degeneration.1 Publication

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Signal peptidei1 – 1717Sequence AnalysisAdd
    BLAST
    Chaini18 – 493476EGF-containing fibulin-like extracellular matrix protein 1PRO_0000007572Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Disulfide bondi177 ↔ 190PROSITE-ProRule annotation
    Disulfide bondi184 ↔ 199PROSITE-ProRule annotation
    Disulfide bondi201 ↔ 212PROSITE-ProRule annotation
    Disulfide bondi218 ↔ 228PROSITE-ProRule annotation
    Disulfide bondi224 ↔ 237PROSITE-ProRule annotation
    Disulfide bondi239 ↔ 252PROSITE-ProRule annotation
    Glycosylationi249 – 2491N-linked (GlcNAc...)Sequence Analysis
    Disulfide bondi258 ↔ 268PROSITE-ProRule annotation
    Disulfide bondi264 ↔ 277PROSITE-ProRule annotation
    Disulfide bondi279 ↔ 292PROSITE-ProRule annotation
    Disulfide bondi298 ↔ 309PROSITE-ProRule annotation
    Disulfide bondi305 ↔ 318PROSITE-ProRule annotation
    Disulfide bondi320 ↔ 332PROSITE-ProRule annotation
    Disulfide bondi338 ↔ 350PROSITE-ProRule annotation
    Disulfide bondi344 ↔ 359PROSITE-ProRule annotation
    Disulfide bondi365 ↔ 377PROSITE-ProRule annotation

    Keywords - PTMi

    Disulfide bond, Glycoprotein

    Proteomic databases

    MaxQBiQ8BPB5.
    PaxDbiQ8BPB5.
    PRIDEiQ8BPB5.

    PTM databases

    PhosphoSiteiQ8BPB5.

    Expressioni

    Gene expression databases

    ArrayExpressiQ8BPB5.
    BgeeiQ8BPB5.
    GenevestigatoriQ8BPB5.

    Interactioni

    Subunit structurei

    Interacts with ECM1. Interacts with TIMP3.By similarity

    Structurei

    3D structure databases

    ProteinModelPortaliQ8BPB5.
    SMRiQ8BPB5. Positions 44-78, 160-409.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini26 – 7146EGF-like 1; atypicalPROSITE-ProRule annotationAdd
    BLAST
    Domaini173 – 21341EGF-like 2; calcium-bindingPROSITE-ProRule annotationAdd
    BLAST
    Domaini214 – 25340EGF-like 3; calcium-bindingPROSITE-ProRule annotationAdd
    BLAST
    Domaini254 – 29340EGF-like 4; calcium-bindingPROSITE-ProRule annotationAdd
    BLAST
    Domaini294 – 33340EGF-like 5; calcium-bindingPROSITE-ProRule annotationAdd
    BLAST
    Domaini334 – 37845EGF-like 6; calcium-bindingPROSITE-ProRule annotationAdd
    BLAST

    Region

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Regioni259 – 493235Mediates interaction with TIMP3By similarityAdd
    BLAST

    Sequence similaritiesi

    Belongs to the fibulin family.Curated
    Contains 6 EGF-like domains.PROSITE-ProRule annotation

    Keywords - Domaini

    EGF-like domain, Repeat, Signal

    Phylogenomic databases

    eggNOGiNOG250502.
    GeneTreeiENSGT00740000115418.
    HOGENOMiHOG000234337.
    HOVERGENiHBG051560.
    InParanoidiQ8BPB5.
    KOiK18262.
    OMAiVQTGRNN.
    OrthoDBiEOG7W9RTF.
    PhylomeDBiQ8BPB5.
    TreeFamiTF317514.

    Family and domain databases

    InterProiIPR026823. cEGF.
    IPR000742. EG-like_dom.
    IPR001881. EGF-like_Ca-bd_dom.
    IPR013032. EGF-like_CS.
    IPR000152. EGF-type_Asp/Asn_hydroxyl_site.
    IPR018097. EGF_Ca-bd_CS.
    IPR009030. Growth_fac_rcpt_N_dom.
    [Graphical view]
    PfamiPF12662. cEGF. 2 hits.
    PF07645. EGF_CA. 3 hits.
    [Graphical view]
    SMARTiSM00179. EGF_CA. 4 hits.
    [Graphical view]
    SUPFAMiSSF57184. SSF57184. 3 hits.
    PROSITEiPS00010. ASX_HYDROXYL. 4 hits.
    PS01186. EGF_2. 4 hits.
    PS50026. EGF_3. 4 hits.
    PS01187. EGF_CA. 6 hits.
    [Graphical view]

    Sequencei

    Sequence statusi: Complete.

    Sequence processingi: The displayed sequence is further processed into a mature form.

    Q8BPB5-1 [UniParc]FASTAAdd to Basket

    « Hide

    MLQTLFLTML TLALVKSQYT EETITYTQCT DGYEWDPIRQ QCKDIDECDI    50
    VPDACKGGMK CVNHYGGYLC LPKTAQIIVN NEHPQQETPA AEASSGATTG 100
    TVAARSMATS GVVPGGGFMA SATAVAGPEV QTGRNNFVIR RNPADPQRIP 150
    SNPSHRIQCA AGYEQSEHNV CQDIDECTSG THNCRTDQVC INLRGSFTCQ 200
    CLPGYQKRGE QCVDIDECTV PPYCHQRCVN TPGSFYCQCS PGFQLAANNY 250
    TCVDINECDA SNQCAQQCYN ILGSFICQCN QGYELSSDRL NCEDIDECRT 300
    SSYLCQYQCV NEPGKFSCMC PQGYEVVRSR TCQDINECET TNECREDEMC 350
    WNYHGGFRCY PRNPCQDHYV LTSENRCVCP VSNTMCRELP QSIVYKYMSI 400
    RSDRSVPSDI FQIQATMIYA NTINTFRIKS GNENGEFYLR QTSPVSAMLV 450
    LVKSLSGPRE YIVDLEMLTV SSIGTFRTSS VLRLTIIVGP FSF 493
    Length:493
    Mass (Da):54,953
    Last modified:March 1, 2003 - v1
    Checksum:i9CEDC7BF2FF9430F
    GO

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AY251056 mRNA. Translation: AAP79577.1.
    AY185605 mRNA. Translation: AAO37642.1.
    AK077302 mRNA. Translation: BAC36738.1.
    AL954346 Genomic DNA. Translation: CAI25011.1.
    CCDSiCCDS48761.1.
    RefSeqiNP_666127.2. NM_146015.2.
    XP_006514723.1. XM_006514660.1.
    UniGeneiMm.44176.

    Genome annotation databases

    EnsembliENSMUST00000020759; ENSMUSP00000020759; ENSMUSG00000020467.
    GeneIDi216616.
    KEGGimmu:216616.
    UCSCiuc007ign.2. mouse.

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AY251056 mRNA. Translation: AAP79577.1 .
    AY185605 mRNA. Translation: AAO37642.1 .
    AK077302 mRNA. Translation: BAC36738.1 .
    AL954346 Genomic DNA. Translation: CAI25011.1 .
    CCDSi CCDS48761.1.
    RefSeqi NP_666127.2. NM_146015.2.
    XP_006514723.1. XM_006514660.1.
    UniGenei Mm.44176.

    3D structure databases

    ProteinModelPortali Q8BPB5.
    SMRi Q8BPB5. Positions 44-78, 160-409.
    ModBasei Search...
    MobiDBi Search...

    PTM databases

    PhosphoSitei Q8BPB5.

    Proteomic databases

    MaxQBi Q8BPB5.
    PaxDbi Q8BPB5.
    PRIDEi Q8BPB5.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENSMUST00000020759 ; ENSMUSP00000020759 ; ENSMUSG00000020467 .
    GeneIDi 216616.
    KEGGi mmu:216616.
    UCSCi uc007ign.2. mouse.

    Organism-specific databases

    CTDi 2202.
    MGIi MGI:1339998. Efemp1.

    Phylogenomic databases

    eggNOGi NOG250502.
    GeneTreei ENSGT00740000115418.
    HOGENOMi HOG000234337.
    HOVERGENi HBG051560.
    InParanoidi Q8BPB5.
    KOi K18262.
    OMAi VQTGRNN.
    OrthoDBi EOG7W9RTF.
    PhylomeDBi Q8BPB5.
    TreeFami TF317514.

    Enzyme and pathway databases

    Reactomei REACT_198998. Molecules associated with elastic fibres.

    Miscellaneous databases

    NextBioi 375234.
    PROi Q8BPB5.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q8BPB5.
    Bgeei Q8BPB5.
    Genevestigatori Q8BPB5.

    Family and domain databases

    InterProi IPR026823. cEGF.
    IPR000742. EG-like_dom.
    IPR001881. EGF-like_Ca-bd_dom.
    IPR013032. EGF-like_CS.
    IPR000152. EGF-type_Asp/Asn_hydroxyl_site.
    IPR018097. EGF_Ca-bd_CS.
    IPR009030. Growth_fac_rcpt_N_dom.
    [Graphical view ]
    Pfami PF12662. cEGF. 2 hits.
    PF07645. EGF_CA. 3 hits.
    [Graphical view ]
    SMARTi SM00179. EGF_CA. 4 hits.
    [Graphical view ]
    SUPFAMi SSF57184. SSF57184. 3 hits.
    PROSITEi PS00010. ASX_HYDROXYL. 4 hits.
    PS01186. EGF_2. 4 hits.
    PS50026. EGF_3. 4 hits.
    PS01187. EGF_CA. 6 hits.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Cloning, expression and characterization of the murine Efemp1, a gene mutated in Doyne-Honeycomb retinal dystrophy."
      Ehlermann J., Weber S., Pfisterer P., Schorle H.
      Gene Expr. Patterns 3:441-447(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA].
      Strain: C57BL/6.
    2. "The transcriptional landscape of the mammalian genome."
      Carninci P., Kasukawa T., Katayama S., Gough J., Frith M.C., Maeda N., Oyama R., Ravasi T., Lenhard B., Wells C., Kodzius R., Shimokawa K., Bajic V.B., Brenner S.E., Batalov S., Forrest A.R., Zavolan M., Davis M.J.
      , Wilming L.G., Aidinis V., Allen J.E., Ambesi-Impiombato A., Apweiler R., Aturaliya R.N., Bailey T.L., Bansal M., Baxter L., Beisel K.W., Bersano T., Bono H., Chalk A.M., Chiu K.P., Choudhary V., Christoffels A., Clutterbuck D.R., Crowe M.L., Dalla E., Dalrymple B.P., de Bono B., Della Gatta G., di Bernardo D., Down T., Engstrom P., Fagiolini M., Faulkner G., Fletcher C.F., Fukushima T., Furuno M., Futaki S., Gariboldi M., Georgii-Hemming P., Gingeras T.R., Gojobori T., Green R.E., Gustincich S., Harbers M., Hayashi Y., Hensch T.K., Hirokawa N., Hill D., Huminiecki L., Iacono M., Ikeo K., Iwama A., Ishikawa T., Jakt M., Kanapin A., Katoh M., Kawasawa Y., Kelso J., Kitamura H., Kitano H., Kollias G., Krishnan S.P., Kruger A., Kummerfeld S.K., Kurochkin I.V., Lareau L.F., Lazarevic D., Lipovich L., Liu J., Liuni S., McWilliam S., Madan Babu M., Madera M., Marchionni L., Matsuda H., Matsuzawa S., Miki H., Mignone F., Miyake S., Morris K., Mottagui-Tabar S., Mulder N., Nakano N., Nakauchi H., Ng P., Nilsson R., Nishiguchi S., Nishikawa S., Nori F., Ohara O., Okazaki Y., Orlando V., Pang K.C., Pavan W.J., Pavesi G., Pesole G., Petrovsky N., Piazza S., Reed J., Reid J.F., Ring B.Z., Ringwald M., Rost B., Ruan Y., Salzberg S.L., Sandelin A., Schneider C., Schoenbach C., Sekiguchi K., Semple C.A., Seno S., Sessa L., Sheng Y., Shibata Y., Shimada H., Shimada K., Silva D., Sinclair B., Sperling S., Stupka E., Sugiura K., Sultana R., Takenaka Y., Taki K., Tammoja K., Tan S.L., Tang S., Taylor M.S., Tegner J., Teichmann S.A., Ueda H.R., van Nimwegen E., Verardo R., Wei C.L., Yagi K., Yamanishi H., Zabarovsky E., Zhu S., Zimmer A., Hide W., Bult C., Grimmond S.M., Teasdale R.D., Liu E.T., Brusic V., Quackenbush J., Wahlestedt C., Mattick J.S., Hume D.A., Kai C., Sasaki D., Tomaru Y., Fukuda S., Kanamori-Katayama M., Suzuki M., Aoki J., Arakawa T., Iida J., Imamura K., Itoh M., Kato T., Kawaji H., Kawagashira N., Kawashima T., Kojima M., Kondo S., Konno H., Nakano K., Ninomiya N., Nishio T., Okada M., Plessy C., Shibata K., Shiraki T., Suzuki S., Tagami M., Waki K., Watahiki A., Okamura-Oho Y., Suzuki H., Kawai J., Hayashizaki Y.
      Science 309:1559-1563(2005) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
      Strain: C57BL/6J.
      Tissue: Xiphoid cartilage.
    3. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
      Strain: C57BL/6J.
    4. "Lack of fibulin-3 causes early aging and herniation, but not macular degeneration in mice."
      McLaughlin P.J., Bakall B., Choi J., Liu Z., Sasaki T., Davis E.C., Marmorstein A.D., Marmorstein L.Y.
      Hum. Mol. Genet. 16:3059-3070(2007) [PubMed] [Europe PMC] [Abstract]
      Cited for: DISRUPTION PHENOTYPE.

    Entry informationi

    Entry nameiFBLN3_MOUSE
    AccessioniPrimary (citable) accession number: Q8BPB5
    Secondary accession number(s): Q6Y3N6
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: April 12, 2005
    Last sequence update: March 1, 2003
    Last modified: October 1, 2014
    This is version 108 of the entry and version 1 of the sequence. [Complete history]
    Entry statusiReviewed (UniProtKB/Swiss-Prot)
    Annotation programChordata Protein Annotation Program

    Miscellaneousi

    Keywords - Technical termi

    Complete proteome, Reference proteome

    Documents

    1. MGD cross-references
      Mouse Genome Database (MGD) cross-references in UniProtKB/Swiss-Prot
    2. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3