Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Basket 0
(max 400 entries)x

Your basket is currently empty.

Select item(s) and click on "Add to basket" to create your own collection here
(400 entries max)

Q6KF10

- GDF6_HUMAN

UniProt

Q6KF10 - GDF6_HUMAN

Protein

Growth/differentiation factor 6

Gene

GDF6

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
    • BLAST
    • Align
    • Format
    • Add to basket
    • History
      Entry version 94 (01 Oct 2014)
      Sequence version 1 (05 Jul 2004)
      Previous versions | rss
    • Help video
    • Feedback
    • Comment

    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.1 Publication

    GO - Biological processi

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

    Keywords - Molecular functioni

    Cytokine, Developmental protein, Growth factor

    Keywords - Biological processi

    Apoptosis

    Enzyme and pathway databases

    SignaLinkiQ6KF10.

    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, GDF16
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 8

    Organism-specific databases

    HGNCiHGNC:4221. GDF6.

    Subcellular locationi

    Secreted 1 Publication

    GO - Cellular componenti

    1. extracellular space Source: UniProtKB-KW

    Keywords - Cellular componenti

    Secreted

    Pathology & Biotechi

    Involvement in diseasei

    Klippel-Feil syndrome 1, autosomal dominant (KFS1) [MIM:118100]: 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. Deafness is a feature in some cases and may be of sensorineural, conductive, or mixed type.2 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti42 – 421G → V in KFS1. 1 Publication
    Corresponds to variant rs121909354 [ dbSNP | Ensembl ].
    VAR_063024
    Natural varianti249 – 2491A → E in KFS1, MCOP4 and LCA17; reduced protein expression associated with decrease in growth factor activity. 3 Publications
    VAR_046903
    Natural varianti289 – 2891L → P in KFS1. 1 Publication
    VAR_046904
    Natural varianti424 – 4241K → R in KFS1. 1 Publication
    Corresponds to variant rs121909353 [ dbSNP | Ensembl ].
    VAR_063029
    A chromosomal aberration involving GDF6 has been found in a patient with Klippel-Feil syndrome (KFS). Paracentric inv8(q22;2q23.3).
    Microphthalmia, isolated, 4 (MCOP4) [MIM:613094]: 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 varianti119 – 1191Q → R in MCOP4. 1 Publication
    Corresponds to variant rs140579014 [ dbSNP | Ensembl ].
    VAR_063025
    Natural varianti216 – 2161D → G in MCOP4. 1 Publication
    VAR_063026
    Natural varianti249 – 2491A → E in KFS1, MCOP4 and LCA17; reduced protein expression associated with decrease in growth factor activity. 3 Publications
    VAR_046903
    Natural varianti253 – 2531Q → L in MCOP4. 1 Publication
    VAR_063027
    Natural varianti327 – 3271P → H in MCOP4. 1 Publication
    VAR_063028
    Leber congenital amaurosis 17 (LCA17) [MIM:615360]: A severe dystrophy of the retina, typically becoming evident in the first years of life. Visual function is usually poor and often accompanied by nystagmus, sluggish or almost absent pupillary responses, photophobia, high hyperopia and keratoconus.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti57 – 571D → H in LCA17; reduced protein expression associated with decrease in growth factor activity. 1 Publication
    VAR_070254
    Natural varianti199 – 1991A → T in LCA17; found also in a patient with microphthalmia isolated with coloboma type 6 carrying a mutation in GDF3; reduced protein expression associated with decrease in growth factor activity. 2 Publications
    VAR_065151
    Natural varianti249 – 2491A → E in KFS1, MCOP4 and LCA17; reduced protein expression associated with decrease in growth factor activity. 3 Publications
    VAR_046903
    Natural varianti292 – 2921E → D in LCA17; increased protein expression associated with decrease in growth factor activity. 1 Publication
    VAR_070255

    Keywords - Diseasei

    Disease mutation, Dwarfism, Leber congenital amaurosis, Microphthalmia

    Organism-specific databases

    MIMi118100. phenotype.
    613094. phenotype.
    615360. phenotype.
    Orphaneti98938. Colobomatous microphthalmia.
    2345. Isolated Klippel-Feil syndrome.
    65. Leber congenital amaurosis.
    PharmGKBiPA28636.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Signal peptidei1 – 2222Sequence AnalysisAdd
    BLAST
    Propeptidei23 – 335313Sequence AnalysisPRO_0000342206Add
    BLAST
    Chaini336 – 455120Growth/differentiation factor 6PRO_0000042253Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Glycosylationi114 – 1141N-linked (GlcNAc...)Sequence Analysis
    Disulfide bondi354 ↔ 420By similarity
    Disulfide bondi383 ↔ 452By similarity
    Disulfide bondi387 ↔ 454By similarity
    Disulfide bondi419 – 419InterchainBy similarity

    Keywords - PTMi

    Cleavage on pair of basic residues, Disulfide bond, Glycoprotein

    Proteomic databases

    PaxDbiQ6KF10.
    PRIDEiQ6KF10.

    Expressioni

    Gene expression databases

    BgeeiQ6KF10.
    CleanExiHS_GDF6.
    GenevestigatoriQ6KF10.

    Organism-specific databases

    HPAiHPA045206.

    Interactioni

    Subunit structurei

    Homodimer; disulfide-linked.By similarity

    Protein-protein interaction databases

    BioGridi134147. 3 interactions.
    STRINGi9606.ENSP00000287020.

    Structurei

    3D structure databases

    ProteinModelPortaliQ6KF10.
    SMRiQ6KF10. Positions 353-455.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Compositional bias

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Compositional biasi27 – 348Poly-Ser
    Compositional biasi255 – 2584Poly-Pro
    Compositional biasi331 – 3355Poly-Arg

    Sequence similaritiesi

    Belongs to the TGF-beta family.Curated

    Keywords - Domaini

    Signal

    Phylogenomic databases

    eggNOGiNOG317866.
    HOGENOMiHOG000231514.
    HOVERGENiHBG107938.
    InParanoidiQ6KF10.
    KOiK04664.
    OMAiFTRSQRK.
    OrthoDBiEOG7WMCK0.
    PhylomeDBiQ6KF10.
    TreeFamiTF316134.

    Family and domain databases

    Gene3Di2.10.90.10. 1 hit.
    InterProiIPR029034. Cystine-knot_cytokine.
    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]
    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.

    Q6KF10-1 [UniParc]FASTAAdd to Basket

    « Hide

    MDTPRVLLSA VFLISFLWDL PGFQQASISS SSSSAELGST KGMRSRKEGK    50
    MQRAPRDSDA GREGQEPQPR PQDEPRAQQP RAQEPPGRGP RVVPHEYMLS 100
    IYRTYSIAEK LGINASFFQS SKSANTITSF VDRGLDDLSH TPLRRQKYLF 150
    DVSMLSDKEE LVGAELRLFR QAPSAPWGPP AGPLHVQLFP CLSPLLLDAR 200
    TLDPQGAPPA GWEVFDVWQG LRHQPWKQLC LELRAAWGEL DAGEAEARAR 250
    GPQQPPPPDL RSLGFGRRVR PPQERALLVV FTRSQRKNLF AEMREQLGSA 300
    EAAGPGAGAE GSWPPPSGAP DARPWLPSPG RRRRRTAFAS RHGKRHGKKS 350
    RLRCSKKPLH VNFKELGWDD WIIAPLEYEA YHCEGVCDFP LRSHLEPTNH 400
    AIIQTLMNSM DPGSTPPSCC VPTKLTPISI LYIDAGNNVV YKQYEDMVVE 450
    SCGCR 455
    Length:455
    Mass (Da):50,662
    Last modified:July 5, 2004 - v1
    Checksum:iF9F365B99E8C659C
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti255 – 2551P → L in AAH43222. (PubMed:15489334)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti42 – 421G → V in KFS1. 1 Publication
    Corresponds to variant rs121909354 [ dbSNP | Ensembl ].
    VAR_063024
    Natural varianti57 – 571D → H in LCA17; reduced protein expression associated with decrease in growth factor activity. 1 Publication
    VAR_070254
    Natural varianti110 – 1101K → E.
    Corresponds to variant rs2245091 [ dbSNP | Ensembl ].
    VAR_023599
    Natural varianti119 – 1191Q → R in MCOP4. 1 Publication
    Corresponds to variant rs140579014 [ dbSNP | Ensembl ].
    VAR_063025
    Natural varianti199 – 1991A → T in LCA17; found also in a patient with microphthalmia isolated with coloboma type 6 carrying a mutation in GDF3; reduced protein expression associated with decrease in growth factor activity. 2 Publications
    VAR_065151
    Natural varianti216 – 2161D → G in MCOP4. 1 Publication
    VAR_063026
    Natural varianti249 – 2491A → E in KFS1, MCOP4 and LCA17; reduced protein expression associated with decrease in growth factor activity. 3 Publications
    VAR_046903
    Natural varianti253 – 2531Q → L in MCOP4. 1 Publication
    VAR_063027
    Natural varianti289 – 2891L → P in KFS1. 1 Publication
    VAR_046904
    Natural varianti292 – 2921E → D in LCA17; increased protein expression associated with decrease in growth factor activity. 1 Publication
    VAR_070255
    Natural varianti327 – 3271P → H in MCOP4. 1 Publication
    VAR_063028
    Natural varianti424 – 4241K → R in KFS1. 1 Publication
    Corresponds to variant rs121909353 [ dbSNP | Ensembl ].
    VAR_063029

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AJ537424 mRNA. Translation: CAD60934.1.
    BC043222 mRNA. Translation: AAH43222.1.
    CCDSiCCDS34926.1.
    RefSeqiNP_001001557.1. NM_001001557.2.
    UniGeneiHs.492277.

    Genome annotation databases

    EnsembliENST00000287020; ENSP00000287020; ENSG00000156466.
    GeneIDi392255.
    KEGGihsa:392255.
    UCSCiuc003yhp.3. human.

    Polymorphism databases

    DMDMi74748876.

    Keywords - Coding sequence diversityi

    Chromosomal rearrangement, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AJ537424 mRNA. Translation: CAD60934.1 .
    BC043222 mRNA. Translation: AAH43222.1 .
    CCDSi CCDS34926.1.
    RefSeqi NP_001001557.1. NM_001001557.2.
    UniGenei Hs.492277.

    3D structure databases

    ProteinModelPortali Q6KF10.
    SMRi Q6KF10. Positions 353-455.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 134147. 3 interactions.
    STRINGi 9606.ENSP00000287020.

    Polymorphism databases

    DMDMi 74748876.

    Proteomic databases

    PaxDbi Q6KF10.
    PRIDEi Q6KF10.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000287020 ; ENSP00000287020 ; ENSG00000156466 .
    GeneIDi 392255.
    KEGGi hsa:392255.
    UCSCi uc003yhp.3. human.

    Organism-specific databases

    CTDi 392255.
    GeneCardsi GC08M097223.
    HGNCi HGNC:4221. GDF6.
    HPAi HPA045206.
    MIMi 118100. phenotype.
    601147. gene.
    613094. phenotype.
    615360. phenotype.
    neXtProti NX_Q6KF10.
    Orphaneti 98938. Colobomatous microphthalmia.
    2345. Isolated Klippel-Feil syndrome.
    65. Leber congenital amaurosis.
    PharmGKBi PA28636.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG317866.
    HOGENOMi HOG000231514.
    HOVERGENi HBG107938.
    InParanoidi Q6KF10.
    KOi K04664.
    OMAi FTRSQRK.
    OrthoDBi EOG7WMCK0.
    PhylomeDBi Q6KF10.
    TreeFami TF316134.

    Enzyme and pathway databases

    SignaLinki Q6KF10.

    Miscellaneous databases

    GeneWikii GDF6.
    GenomeRNAii 392255.
    NextBioi 105028.
    PROi Q6KF10.
    SOURCEi Search...

    Gene expression databases

    Bgeei Q6KF10.
    CleanExi HS_GDF6.
    Genevestigatori Q6KF10.

    Family and domain databases

    Gene3Di 2.10.90.10. 1 hit.
    InterProi IPR029034. Cystine-knot_cytokine.
    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 ]
    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 associated analysis."
      Guo J.H.
      Submitted (JAN-2003) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [MRNA].
      Tissue: Hindbrain.
    2. "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] OF 255-455.
      Tissue: Testis.
    3. "Mutations in GDF6 are associated with vertebral segmentation defects in Klippel-Feil syndrome."
      Tassabehji M., Fang Z.M., Hilton E.N., McGaughran J., Zhao Z., de Bock C.E., Howard E., Malass M., Donnai D., Diwan A., Manson F.D.C., Murrell D., Clarke R.A.
      Hum. Mutat. 29:1017-1027(2008) [PubMed] [Europe PMC] [Abstract]
      Cited for: CHROMOSOMAL REARRANGEMENT, VARIANTS KFS1 GLU-249 AND PRO-289.
    4. Cited for: FUNCTION, SUBCELLULAR LOCATION, VARIANTS LCA17 HIS-57; THR-199; GLU-249 AND ASP-292, CHARACTERIZATION OF VARIANTS LCA17 HIS-57; THR-199; GLU-249 AND ASP-292.
    5. Cited for: VARIANTS MCOP4 ARG-119; GLY-216; GLU-249; LEU-253 AND HIS-327, VARIANTS KFS1 VAL-42 AND ARG-424.
    6. Cited for: VARIANT THR-199.

    Entry informationi

    Entry nameiGDF6_HUMAN
    AccessioniPrimary (citable) accession number: Q6KF10
    Secondary accession number(s): Q6PI58
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: October 11, 2005
    Last sequence update: July 5, 2004
    Last modified: October 1, 2014
    This is version 94 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 8
      Human chromosome 8: 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