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Q9NR23

- GDF3_HUMAN

UniProt

Q9NR23 - GDF3_HUMAN

Protein

Growth/differentiation factor 3

Gene

GDF3

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 119 (01 Oct 2014)
      Sequence version 3 (13 Apr 2004)
      Previous versions | rss
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    Functioni

    GO - Molecular functioni

    1. protein kinase binding Source: UniProt

    GO - Biological processi

    1. endoderm development Source: Ensembl
    2. eye development Source: UniProtKB
    3. formation of anatomical boundary Source: Ensembl
    4. growth Source: InterPro
    5. in utero embryonic development Source: Ensembl
    6. mesoderm development Source: Ensembl
    7. negative regulation of BMP signaling pathway Source: UniProt
    8. negative regulation of epidermal cell differentiation Source: UniProt
    9. notochord development Source: Ensembl
    10. primitive streak formation Source: Ensembl
    11. regulation of cell fate commitment Source: UniProt
    12. response to dietary excess Source: Ensembl
    13. signal transduction Source: Ensembl
    14. skeletal system development Source: UniProtKB
    15. somite rostral/caudal axis specification Source: Ensembl

    Keywords - Molecular functioni

    Cytokine, Growth factor

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Growth/differentiation factor 3
    Short name:
    GDF-3
    Gene namesi
    Name:GDF3
    ORF Names:UNQ222/PRO248
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 12

    Organism-specific databases

    HGNCiHGNC:4218. GDF3.

    Subcellular locationi

    Secreted Curated

    GO - Cellular componenti

    1. cytoplasm Source: UniProt
    2. extracellular space Source: UniProtKB-KW

    Keywords - Cellular componenti

    Secreted

    Pathology & Biotechi

    Involvement in diseasei

    Klippel-Feil syndrome 3, autosomal dominant (KFS3) [MIM:613702]: A skeletal disorder characterized by congenital fusion of cervical vertebrae. It is due to a failure in the normal segmentation of vertebrae during the early weeks of fetal development. The clinical triad consists of short neck, low posterior hairline, and limited neck movement.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti266 – 2661R → C in KFS3 and MCOPCB6. 1 Publication
    Corresponds to variant rs140926412 [ dbSNP | Ensembl ].
    VAR_065148
    Microphthalmia, isolated, with coloboma, 6 (MCOPCB6) [MIM:613703]: A disorder of eye formation, ranging from small size of a single eye to complete bilateral absence of ocular tissues. Ocular abnormalities like opacities of the cornea and lens, scaring of the retina and choroid, and other abnormalities may also be present. Ocular colobomas are a set of malformations resulting from abnormal morphogenesis of the optic cup and stalk, and the fusion of the fetal fissure (optic fissure).1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti266 – 2661R → C in KFS3 and MCOPCB6. 1 Publication
    Corresponds to variant rs140926412 [ dbSNP | Ensembl ].
    VAR_065148
    Natural varianti274 – 2741R → W in MCOPCB6. 1 Publication
    VAR_065149
    Microphthalmia, isolated, 7 (MCOP7) [MIM:613704]: A disorder of eye formation, ranging from small size of a single eye to complete bilateral absence of ocular tissues. Ocular abnormalities like opacities of the cornea and lens, scaring of the retina and choroid, and other abnormalities may also be present.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti195 – 1951R → Q in MCOP7. 1 Publication
    VAR_065147
    Natural varianti305 – 3051L → P in MCOP7; also detected in a patient with bilateral iris coloboma. 1 Publication
    VAR_065150

    Keywords - Diseasei

    Disease mutation, Microphthalmia

    Organism-specific databases

    MIMi613702. phenotype.
    613703. phenotype.
    613704. phenotype.
    Orphaneti98938. Colobomatous microphthalmia.
    2542. Isolated anophthalmia - microphthalmia.
    2345. Isolated Klippel-Feil syndrome.
    PharmGKBiPA28633.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Signal peptidei1 – 2424Sequence AnalysisAdd
    BLAST
    Propeptidei25 – 250226Sequence AnalysisPRO_0000033908Add
    BLAST
    Chaini251 – 364114Growth/differentiation factor 3PRO_0000033909Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Glycosylationi112 – 1121N-linked (GlcNAc...)Sequence Analysis
    Disulfide bondi264 ↔ 329By similarity
    Disulfide bondi293 ↔ 361By similarity
    Disulfide bondi297 ↔ 363By similarity
    Glycosylationi306 – 3061N-linked (GlcNAc...)Sequence Analysis

    Keywords - PTMi

    Cleavage on pair of basic residues, Disulfide bond, Glycoprotein

    Proteomic databases

    PaxDbiQ9NR23.
    PRIDEiQ9NR23.

    PTM databases

    PhosphoSiteiQ9NR23.

    Expressioni

    Gene expression databases

    BgeeiQ9NR23.
    CleanExiHS_GDF3.
    GenevestigatoriQ9NR23.

    Organism-specific databases

    HPAiHPA018468.

    Interactioni

    Subunit structurei

    Homodimer or heterodimer Potential. But, in contrast to other members of this family, cannot be disulfide-linked.Curated

    Protein-protein interaction databases

    STRINGi9606.ENSP00000331745.

    Structurei

    3D structure databases

    ProteinModelPortaliQ9NR23.
    SMRiQ9NR23. Positions 264-363.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Sequence similaritiesi

    Belongs to the TGF-beta family.Curated

    Keywords - Domaini

    Signal

    Phylogenomic databases

    eggNOGiNOG255568.
    HOGENOMiHOG000249476.
    HOVERGENiHBG004860.
    InParanoidiQ9NR23.
    KOiK05495.
    OMAiYFNLSAI.
    OrthoDBiEOG71CFMF.
    PhylomeDBiQ9NR23.
    TreeFamiTF351789.

    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.

    Q9NR23-1 [UniParc]FASTAAdd to Basket

    « Hide

    MLRFLPDLAF SFLLILALGQ AVQFQEYVFL QFLGLDKAPS PQKFQPVPYI    50
    LKKIFQDREA AATTGVSRDL CYVKELGVRG NVLRFLPDQG FFLYPKKISQ 100
    ASSCLQKLLY FNLSAIKERE QLTLAQLGLD LGPNSYYNLG PELELALFLV 150
    QEPHVWGQTT PKPGKMFVLR SVPWPQGAVH FNLLDVAKDW NDNPRKNFGL 200
    FLEILVKEDR DSGVNFQPED TCARLRCSLH ASLLVVTLNP DQCHPSRKRR 250
    AAIPVPKLSC KNLCHRHQLF INFRDLGWHK WIIAPKGFMA NYCHGECPFS 300
    LTISLNSSNY AFMQALMHAV DPEIPQAVCI PTKLSPISML YQDNNDNVIL 350
    RHYEDMVVDE CGCG 364
    Length:364
    Mass (Da):41,387
    Last modified:April 13, 2004 - v3
    Checksum:iE0D2EA86E2B73A0B
    GO

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti195 – 1951R → Q in MCOP7. 1 Publication
    VAR_065147
    Natural varianti213 – 2131G → R.1 Publication
    Corresponds to variant rs12819884 [ dbSNP | Ensembl ].
    VAR_052574
    Natural varianti266 – 2661R → C in KFS3 and MCOPCB6. 1 Publication
    Corresponds to variant rs140926412 [ dbSNP | Ensembl ].
    VAR_065148
    Natural varianti274 – 2741R → W in MCOPCB6. 1 Publication
    VAR_065149
    Natural varianti305 – 3051L → P in MCOP7; also detected in a patient with bilateral iris coloboma. 1 Publication
    VAR_065150
    Natural varianti328 – 3281V → L.
    Corresponds to variant rs2302516 [ dbSNP | Ensembl ].
    VAR_020064

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF263538 mRNA. Translation: AAF91389.1.
    AY358875 mRNA. Translation: AAQ89234.1.
    BC030959 mRNA. Translation: AAH30959.1.
    CCDSiCCDS8581.1.
    RefSeqiNP_065685.1. NM_020634.1.
    UniGeneiHs.86232.

    Genome annotation databases

    EnsembliENST00000329913; ENSP00000331745; ENSG00000184344.
    GeneIDi9573.
    KEGGihsa:9573.
    UCSCiuc001qte.3. human.

    Polymorphism databases

    DMDMi46397885.

    Keywords - Coding sequence diversityi

    Polymorphism

    Cross-referencesi

    Web resourcesi

    Wikipedia

    GDF3 entry

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF263538 mRNA. Translation: AAF91389.1 .
    AY358875 mRNA. Translation: AAQ89234.1 .
    BC030959 mRNA. Translation: AAH30959.1 .
    CCDSi CCDS8581.1.
    RefSeqi NP_065685.1. NM_020634.1.
    UniGenei Hs.86232.

    3D structure databases

    ProteinModelPortali Q9NR23.
    SMRi Q9NR23. Positions 264-363.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    STRINGi 9606.ENSP00000331745.

    PTM databases

    PhosphoSitei Q9NR23.

    Polymorphism databases

    DMDMi 46397885.

    Proteomic databases

    PaxDbi Q9NR23.
    PRIDEi Q9NR23.

    Protocols and materials databases

    DNASUi 9573.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000329913 ; ENSP00000331745 ; ENSG00000184344 .
    GeneIDi 9573.
    KEGGi hsa:9573.
    UCSCi uc001qte.3. human.

    Organism-specific databases

    CTDi 9573.
    GeneCardsi GC12M007842.
    HGNCi HGNC:4218. GDF3.
    HPAi HPA018468.
    MIMi 606522. gene.
    613702. phenotype.
    613703. phenotype.
    613704. phenotype.
    neXtProti NX_Q9NR23.
    Orphaneti 98938. Colobomatous microphthalmia.
    2542. Isolated anophthalmia - microphthalmia.
    2345. Isolated Klippel-Feil syndrome.
    PharmGKBi PA28633.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG255568.
    HOGENOMi HOG000249476.
    HOVERGENi HBG004860.
    InParanoidi Q9NR23.
    KOi K05495.
    OMAi YFNLSAI.
    OrthoDBi EOG71CFMF.
    PhylomeDBi Q9NR23.
    TreeFami TF351789.

    Miscellaneous databases

    GeneWikii GDF3.
    GenomeRNAii 9573.
    NextBioi 35903.
    PROi Q9NR23.
    SOURCEi Search...

    Gene expression databases

    Bgeei Q9NR23.
    CleanExi HS_GDF3.
    Genevestigatori Q9NR23.

    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. "Transcripts in human map region 12p13.3."
      Lorenz B., White K.E., Econs M.J., Strom T.M.
      Submitted (MAY-2000) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [MRNA].
    2. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    3. "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], VARIANT ARG-213.
      Tissue: Kidney.
    4. Cited for: VARIANT KFS3 CYS-266, VARIANTS MCOP7 GLN-195 AND PRO-305, VARIANTS MCOPCB6 CYS-266 AND TRP-274.

    Entry informationi

    Entry nameiGDF3_HUMAN
    AccessioniPrimary (citable) accession number: Q9NR23
    Secondary accession number(s): Q8NEJ4
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: February 21, 2001
    Last sequence update: April 13, 2004
    Last modified: October 1, 2014
    This is version 119 of the entry and version 3 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 12
      Human chromosome 12: 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