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P43028 (GDF6_MOUSE) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 106. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (2) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended 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 names
Name:Gdf6
Synonyms:Bmp13, Gdf-6, Gdf16
OrganismMus musculus (Mouse) [Reference proteome]
Taxonomic identifier10090 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresGliresRodentiaSciurognathiMuroideaMuridaeMurinaeMusMus

Protein attributes

Sequence length454 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is further processed into a mature form.
Protein existenceEvidence at transcript level

General annotation (Comments)

Function

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. Ref.3 Ref.4 Ref.5

Subunit structure

Homodimer; disulfide-linked By similarity.

Subcellular location

Secreted By similarity.

Tissue specificity

Expressed in different subsets of developing joints. Ref.3

Induction

Strongly up-regulated in tibialis anterior muscles after denervation.

Disruption phenotype

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. Ref.5

Sequence similarities

Belongs to the TGF-beta family.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Signal peptide1 – 2222 Potential
Propeptide23 – 334312 Potential
PRO_0000342207
Chain335 – 454120Growth/differentiation factor 6
PRO_0000033919

Regions

Compositional bias27 – 359Poly-Ser
Compositional bias330 – 3345Poly-Arg

Amino acid modifications

Glycosylation1171N-linked (GlcNAc...) Potential
Disulfide bond353 ↔ 419 By similarity
Disulfide bond382 ↔ 451 By similarity
Disulfide bond386 ↔ 453 By similarity
Disulfide bond418Interchain By similarity

Sequences

Sequence LengthMass (Da)Tools
P43028 [UniParc].

Last modified October 11, 2005. Version 2.
Checksum: 5A3FADDA539CCB38

FASTA45450,942
        10         20         30         40         50         60 
MDTPRVLLWA IFLISFLWDL PGFQQASISS SSSSSTELDS TKDVGNRKEG KMQRTPQESA 

        70         80         90        100        110        120 
EGRTPPEHGL RQKDLRRRPP GQHQGQEPPG RGLRVVPHEY MLSIYKTYSI AEKLGINASF 

       130        140        150        160        170        180 
FQSSKSANTI TSFVDRGLDD LSHTPLRRQK YLFDVSTLSD KEELVGAELR LYRQAPPTPW 

       190        200        210        220        230        240 
GLPARPLHLQ LFPCLSPLLL DARTLDPQGP TQAGWEVFDV WQGLRPQPWK QLCLELRAAW 

       250        260        270        280        290        300 
GELDAGDTGA RARGPQQPPP LDLRSLGFGR RVRPPQERAL LVVFTRSQRK NLFTEMHEQL 

       310        320        330        340        350        360 
GSAEAAGAEG SWPAPSGSPD AGSWLPSPGR RRRRTAFASR HGKRHGKKSR LRCSRKPLHV 

       370        380        390        400        410        420 
NFKELGWDDW IIAPLEYEAY HCEGVCDFPL RSHLEPTNHA IIQTLMNSMD PGSTPPSCCV 

       430        440        450 
PTKLTPISIL YIDAGNNVVY KQYEDMVVES CGCR 

« Hide

References

[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]"Contribution of growth differentiation factor 6-dependent cell survival to early-onset retinal dystrophies."
Asai-Coakwell M., March L., Dai X.H., Duval M., Lopez I., French C.R., Famulski J., De Baere E., Francis P.J., Sundaresan P., Sauve Y., Koenekoop R.K., Berry F.B., Allison W.T., Waskiewicz A.J., Lehmann O.J.
Hum. Mol. Genet. 22:1432-1442(2013) [PubMed] [Europe PMC] [Abstract]
Cited for: FUNCTION, DISRUPTION PHENOTYPE.
[6]"BMP signaling controls muscle mass."
Sartori R., Schirwis E., Blaauw B., Bortolanza S., Zhao J., Enzo E., Stantzou A., Mouisel E., Toniolo L., Ferry A., Stricker S., Goldberg A.L., Dupont S., Piccolo S., Amthor H., Sandri M.
Nat. Genet. 45:1309-1318(2013) [PubMed] [Europe PMC] [Abstract]
Cited for: INDUCTION.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AJ537425 mRNA. Translation: CAD60935.1.
U08338 Unassigned DNA. Translation: AAA18779.1.
PIRS43295.
RefSeqNP_038554.1. NM_013526.1.
UniGeneMm.302555.

3D structure databases

ProteinModelPortalP43028.
SMRP43028. Positions 352-454.
ModBaseSearch...
MobiDBSearch...

Proteomic databases

PRIDEP43028.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENSMUST00000057613; ENSMUSP00000062884; ENSMUSG00000051279.
GeneID242316.
KEGGmmu:242316.
UCSCuc008ryt.1. mouse.

Organism-specific databases

CTD392255.
MGIMGI:95689. Gdf6.

Phylogenomic databases

eggNOGNOG317866.
GeneTreeENSGT00730000110209.
HOGENOMHOG000231514.
HOVERGENHBG107938.
InParanoidP43028.
KOK04664.
OMAFTRSQRK.
OrthoDBEOG7WMCK0.
PhylomeDBP43028.
TreeFamTF316134.

Gene expression databases

BgeeP43028.
CleanExMM_GDF6.
GenevestigatorP43028.

Family and domain databases

InterProIPR002405. Inhibin_asu.
IPR001839. TGF-b_C.
IPR001111. TGF-b_N.
IPR015615. TGF-beta-rel.
IPR017948. TGFb_CS.
[Graphical view]
PANTHERPTHR11848. PTHR11848. 1 hit.
PfamPF00019. TGF_beta. 1 hit.
PF00688. TGFb_propeptide. 1 hit.
[Graphical view]
PRINTSPR00669. INHIBINA.
SMARTSM00204. TGFB. 1 hit.
[Graphical view]
PROSITEPS00250. TGF_BETA_1. 1 hit.
PS51362. TGF_BETA_2. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

NextBio385300.
PROP43028.
SOURCESearch...

Entry information

Entry nameGDF6_MOUSE
AccessionPrimary (citable) accession number: P43028
Secondary accession number(s): Q70UT4
Entry history
Integrated into UniProtKB/Swiss-Prot: November 1, 1995
Last sequence update: October 11, 2005
Last modified: April 16, 2014
This is version 106 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program

Relevant documents

SIMILARITY comments

Index of protein domains and families

MGD cross-references

Mouse Genome Database (MGD) cross-references in UniProtKB/Swiss-Prot