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P43028

- GDF6_MOUSE

UniProt

P43028 - GDF6_MOUSE

Protein

Growth/differentiation factor 6

Gene

Gdf6

Organism
Mus musculus (Mouse)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at transcript leveli
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    • History
      Entry version 109 (01 Oct 2014)
      Sequence version 2 (11 Oct 2005)
      Previous versions | rss
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    Functioni

    Growth factor that controls proliferation and cellular differentiation in the retina and bone formation. Plays a key role in regulating apoptosis during retinal development. Establishes dorsal-ventral positional information in the retina and controls the formation of the retinotectal map. Required for normal formation of bones and joints in the limbs, skull, and axial skeleton. Plays a key role in establishing boundaries between skeletal elements during development. May signal through the growth factor receptors subunits BMPR1A, BMPR1B, BMPR2 and ACVR2A.3 Publications

    GO - Molecular functioni

    1. protein homodimerization activity Source: MGI

    GO - Biological processi

    1. activin receptor signaling pathway Source: Ensembl
    2. apoptotic process Source: UniProtKB
    3. BMP signaling pathway Source: MGI
    4. growth Source: InterPro
    5. pathway-restricted SMAD protein phosphorylation Source: Ensembl
    6. positive regulation of neuron differentiation Source: MGI
    7. positive regulation of pathway-restricted SMAD protein phosphorylation Source: Ensembl
    8. positive regulation of transcription, DNA-templated Source: Ensembl
    9. retinal cell apoptotic process Source: UniProtKB

    Keywords - Molecular functioni

    Cytokine, Developmental protein, Growth factor

    Keywords - Biological processi

    Apoptosis

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Growth/differentiation factor 6
    Short name:
    GDF-6
    Alternative name(s):
    Bone morphogenetic protein 13
    Short name:
    BMP-13
    Growth/differentiation factor 16
    Gene namesi
    Name:Gdf6
    Synonyms:Bmp13, Gdf-6, Gdf16
    OrganismiMus musculus (Mouse)
    Taxonomic identifieri10090 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresGliresRodentiaSciurognathiMuroideaMuridaeMurinaeMusMus
    ProteomesiUP000000589: Chromosome 4

    Organism-specific databases

    MGIiMGI:95689. Gdf6.

    Subcellular locationi

    Secreted By similarity

    GO - Cellular componenti

    1. extracellular space Source: UniProtKB-KW

    Keywords - Cellular componenti

    Secreted

    Pathology & Biotechi

    Disruption phenotypei

    Mice lacking Gdf6 display photoreceptor degeneration. Animals exhibit abnormal electroretinograms with up to 66% decreases in the bipolar cell-driven b-wave and 54% decreases in the photoreceptor-mediated a-wave amplitudes, as well as 3 to 27% reduced photopic flicker fusion.1 Publication

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Signal peptidei1 – 2222Sequence AnalysisAdd
    BLAST
    Propeptidei23 – 334312Sequence AnalysisPRO_0000342207Add
    BLAST
    Chaini335 – 454120Growth/differentiation factor 6PRO_0000033919Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Glycosylationi117 – 1171N-linked (GlcNAc...)Sequence Analysis
    Disulfide bondi353 ↔ 419By similarity
    Disulfide bondi382 ↔ 451By similarity
    Disulfide bondi386 ↔ 453By similarity
    Disulfide bondi418 – 418InterchainBy similarity

    Keywords - PTMi

    Cleavage on pair of basic residues, Disulfide bond, Glycoprotein

    Proteomic databases

    PRIDEiP43028.

    Expressioni

    Tissue specificityi

    Expressed in different subsets of developing joints.1 Publication

    Inductioni

    Strongly up-regulated in tibialis anterior muscles after denervation.1 Publication

    Gene expression databases

    BgeeiP43028.
    CleanExiMM_GDF6.
    GenevestigatoriP43028.

    Interactioni

    Subunit structurei

    Homodimer; disulfide-linked.By similarity

    Structurei

    3D structure databases

    ProteinModelPortaliP43028.
    SMRiP43028. Positions 352-454.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Compositional bias

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Compositional biasi27 – 359Poly-Ser
    Compositional biasi330 – 3345Poly-Arg

    Sequence similaritiesi

    Belongs to the TGF-beta family.Curated

    Keywords - Domaini

    Signal

    Phylogenomic databases

    eggNOGiNOG317866.
    GeneTreeiENSGT00730000110209.
    HOGENOMiHOG000231514.
    HOVERGENiHBG107938.
    InParanoidiP43028.
    KOiK04664.
    OMAiFTRSQRK.
    OrthoDBiEOG7WMCK0.
    PhylomeDBiP43028.
    TreeFamiTF316134.

    Family and domain databases

    Gene3Di2.10.90.10. 1 hit.
    InterProiIPR029034. Cystine-knot_cytokine.
    IPR002405. Inhibin_asu.
    IPR001839. TGF-b_C.
    IPR001111. TGF-b_N.
    IPR015615. TGF-beta-rel.
    IPR017948. TGFb_CS.
    [Graphical view]
    PANTHERiPTHR11848. PTHR11848. 1 hit.
    PfamiPF00019. TGF_beta. 1 hit.
    PF00688. TGFb_propeptide. 1 hit.
    [Graphical view]
    PRINTSiPR00669. INHIBINA.
    SMARTiSM00204. TGFB. 1 hit.
    [Graphical view]
    SUPFAMiSSF57501. SSF57501. 1 hit.
    PROSITEiPS00250. TGF_BETA_1. 1 hit.
    PS51362. TGF_BETA_2. 1 hit.
    [Graphical view]

    Sequencei

    Sequence statusi: Complete.

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

    P43028-1 [UniParc]FASTAAdd to Basket

    « Hide

    MDTPRVLLWA IFLISFLWDL PGFQQASISS SSSSSTELDS TKDVGNRKEG    50
    KMQRTPQESA EGRTPPEHGL RQKDLRRRPP GQHQGQEPPG RGLRVVPHEY 100
    MLSIYKTYSI AEKLGINASF FQSSKSANTI TSFVDRGLDD LSHTPLRRQK 150
    YLFDVSTLSD KEELVGAELR LYRQAPPTPW GLPARPLHLQ LFPCLSPLLL 200
    DARTLDPQGP TQAGWEVFDV WQGLRPQPWK QLCLELRAAW GELDAGDTGA 250
    RARGPQQPPP LDLRSLGFGR RVRPPQERAL LVVFTRSQRK NLFTEMHEQL 300
    GSAEAAGAEG SWPAPSGSPD AGSWLPSPGR RRRRTAFASR HGKRHGKKSR 350
    LRCSRKPLHV NFKELGWDDW IIAPLEYEAY HCEGVCDFPL RSHLEPTNHA 400
    IIQTLMNSMD PGSTPPSCCV PTKLTPISIL YIDAGNNVVY KQYEDMVVES 450
    CGCR 454
    Length:454
    Mass (Da):50,942
    Last modified:October 11, 2005 - v2
    Checksum:i5A3FADDA539CCB38
    GO

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AJ537425 mRNA. Translation: CAD60935.1.
    U08338 Unassigned DNA. Translation: AAA18779.1.
    CCDSiCCDS17960.1.
    PIRiS43295.
    RefSeqiNP_038554.1. NM_013526.1.
    UniGeneiMm.302555.

    Genome annotation databases

    EnsembliENSMUST00000057613; ENSMUSP00000062884; ENSMUSG00000051279.
    GeneIDi242316.
    KEGGimmu:242316.
    UCSCiuc008ryt.1. mouse.

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AJ537425 mRNA. Translation: CAD60935.1 .
    U08338 Unassigned DNA. Translation: AAA18779.1 .
    CCDSi CCDS17960.1.
    PIRi S43295.
    RefSeqi NP_038554.1. NM_013526.1.
    UniGenei Mm.302555.

    3D structure databases

    ProteinModelPortali P43028.
    SMRi P43028. Positions 352-454.
    ModBasei Search...
    MobiDBi Search...

    Proteomic databases

    PRIDEi P43028.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENSMUST00000057613 ; ENSMUSP00000062884 ; ENSMUSG00000051279 .
    GeneIDi 242316.
    KEGGi mmu:242316.
    UCSCi uc008ryt.1. mouse.

    Organism-specific databases

    CTDi 392255.
    MGIi MGI:95689. Gdf6.

    Phylogenomic databases

    eggNOGi NOG317866.
    GeneTreei ENSGT00730000110209.
    HOGENOMi HOG000231514.
    HOVERGENi HBG107938.
    InParanoidi P43028.
    KOi K04664.
    OMAi FTRSQRK.
    OrthoDBi EOG7WMCK0.
    PhylomeDBi P43028.
    TreeFami TF316134.

    Miscellaneous databases

    NextBioi 385300.
    PROi P43028.
    SOURCEi Search...

    Gene expression databases

    Bgeei P43028.
    CleanExi MM_GDF6.
    Genevestigatori P43028.

    Family and domain databases

    Gene3Di 2.10.90.10. 1 hit.
    InterProi IPR029034. Cystine-knot_cytokine.
    IPR002405. Inhibin_asu.
    IPR001839. TGF-b_C.
    IPR001111. TGF-b_N.
    IPR015615. TGF-beta-rel.
    IPR017948. TGFb_CS.
    [Graphical view ]
    PANTHERi PTHR11848. PTHR11848. 1 hit.
    Pfami PF00019. TGF_beta. 1 hit.
    PF00688. TGFb_propeptide. 1 hit.
    [Graphical view ]
    PRINTSi PR00669. INHIBINA.
    SMARTi SM00204. TGFB. 1 hit.
    [Graphical view ]
    SUPFAMi SSF57501. SSF57501. 1 hit.
    PROSITEi PS00250. TGF_BETA_1. 1 hit.
    PS51362. TGF_BETA_2. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Cloning of human GDF16 and functional assocatied analysis."
      Guo J.H.
      Submitted (JAN-2003) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [MRNA].
      Strain: Kunming.
      Tissue: Brain.
    2. "Limb alterations in brachypodism mice due to mutations in a new member of the TGF beta-superfamily."
      Storm E.E., Huynh T.V., Copeland N.G., Jenkins N.A., Kingsley D.M., Lee S.-J.
      Nature 368:639-643(1994) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 330-454.
      Strain: BALB/c.
      Tissue: Liver.
    3. "Multiple joint and skeletal patterning defects caused by single and double mutations in the mouse Gdf6 and Gdf5 genes."
      Settle S.H. Jr., Rountree R.B., Sinha A., Thacker A., Higgins K., Kingsley D.M.
      Dev. Biol. 254:116-130(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION, TISSUE SPECIFICITY.
    4. "Identification of receptors and signaling pathways for orphan bone morphogenetic protein/growth differentiation factor ligands based on genomic analyses."
      Mazerbourg S., Sangkuhl K., Luo C.-W., Sudo S., Klein C., Hsueh A.J.W.
      J. Biol. Chem. 280:32122-32132(2005) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION, IDENTIFICATION OF RECEPTORS.
    5. Cited for: FUNCTION, DISRUPTION PHENOTYPE.
    6. Cited for: INDUCTION.

    Entry informationi

    Entry nameiGDF6_MOUSE
    AccessioniPrimary (citable) accession number: P43028
    Secondary accession number(s): Q70UT4
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: November 1, 1995
    Last sequence update: October 11, 2005
    Last modified: October 1, 2014
    This is version 109 of the entry and version 2 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