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Q6KF10

- GDF6_HUMAN

UniProt

Q6KF10 - GDF6_HUMAN

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Protein

Growth/differentiation factor 6

Gene

GDF6

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli

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
Complete GO annotation...

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
Complete GO annotation...

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.
ExpressionAtlasiQ6KF10. baseline.
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.
GeneTreeiENSGT00760000118883.
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 [UniParc]FASTAAdd to Basket

« Hide

        10         20         30         40         50
MDTPRVLLSA VFLISFLWDL PGFQQASISS SSSSAELGST KGMRSRKEGK
60 70 80 90 100
MQRAPRDSDA GREGQEPQPR PQDEPRAQQP RAQEPPGRGP RVVPHEYMLS
110 120 130 140 150
IYRTYSIAEK LGINASFFQS SKSANTITSF VDRGLDDLSH TPLRRQKYLF
160 170 180 190 200
DVSMLSDKEE LVGAELRLFR QAPSAPWGPP AGPLHVQLFP CLSPLLLDAR
210 220 230 240 250
TLDPQGAPPA GWEVFDVWQG LRHQPWKQLC LELRAAWGEL DAGEAEARAR
260 270 280 290 300
GPQQPPPPDL RSLGFGRRVR PPQERALLVV FTRSQRKNLF AEMREQLGSA
310 320 330 340 350
EAAGPGAGAE GSWPPPSGAP DARPWLPSPG RRRRRTAFAS RHGKRHGKKS
360 370 380 390 400
RLRCSKKPLH VNFKELGWDD WIIAPLEYEA YHCEGVCDFP LRSHLEPTNH
410 420 430 440 450
AIIQTLMNSM DPGSTPPSCC VPTKLTPISI LYIDAGNNVV YKQYEDMVVE

SCGCR
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.
GeneTreei ENSGT00760000118883.
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.
ExpressionAtlasi Q6KF10. baseline.
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

« Hide 'large scale' publications
  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 29, 2014
This is version 95 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