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Entry version 125 (31 Jul 2019)
Sequence version 1 (05 Jul 2004)
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Protein

Growth/differentiation factor 6

Gene

GDF6

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>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 (PubMed:23307924). Required for normal formation of bones and joints in the limbs, skull, digits and axial skeleton. Plays a key role in establishing boundaries between skeletal elements during development. Regulation of GDF6 expression seems to be a mechanism for evolving species-specific changes in skeletal structures. Seems to positively regulate differentiation of chondrogenic tissue through the growth factor receptors subunits BMPR1A, BMPR1B, BMPR2 and ACVR2A, leading to the activation of SMAD1-SMAD5-SMAD8 complex. The regulation of chondrogenic differentiation is inhibited by NOG (PubMed:26643732). Also involved in the induction of adipogenesis from mesenchymal stem cells. This mechanism acts through the growth factor receptors subunits BMPR1A, BMPR2 and ACVR2A and the activation of SMAD1-SMAD5-SMAD8 complex and MAPK14/p38 (By similarity).By similarity2 Publications

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionCytokine, Developmental protein, Growth factor
Biological processApoptosis

Enzyme and pathway databases

SignaLink: a signaling pathway resource with multi-layered regulatory networks

More...
SignaLinki
Q6KF10

SIGNOR Signaling Network Open Resource

More...
SIGNORi
Q6KF10

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>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
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:GDF6
Synonyms:BMP13, GDF16
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 8

Organism-specific databases

Human Gene Nomenclature Database

More...
HGNCi
HGNC:4221 GDF6

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
601147 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q6KF10

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte & Seán O’Donoghue; Source: COMPARTMENTS

Keywords - Cellular componenti

Secreted

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Klippel-Feil syndrome 1, autosomal dominant (KFS1)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_06302442G → V in KFS1. 2 PublicationsCorresponds to variant dbSNP:rs121909354EnsemblClinVar.1
Natural variantiVAR_046903249A → E in KFS1, MCOP4 and LCA17; reduced protein expression associated with decrease in growth factor activity. 3 PublicationsCorresponds to variant dbSNP:rs121909352EnsemblClinVar.1
Natural variantiVAR_046904289L → P in KFS1. 1 PublicationCorresponds to variant dbSNP:rs63751220EnsemblClinVar.1
Natural variantiVAR_063029424K → R in KFS1. 1 PublicationCorresponds to variant dbSNP:rs121909353EnsemblClinVar.1
A chromosomal aberration involving GDF6 has been found in a patient with Klippel-Feil syndrome (KFS). Paracentric inv(8)(q22;2q23.3).1 Publication
Microphthalmia, isolated, 4 (MCOP4)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_063025119Q → R in MCOP4. 1 PublicationCorresponds to variant dbSNP:rs140579014EnsemblClinVar.1
Natural variantiVAR_063026216D → G in MCOP4. 1 Publication1
Natural variantiVAR_063027253Q → L in MCOP4. 1 PublicationCorresponds to variant dbSNP:rs121909355EnsemblClinVar.1
Natural variantiVAR_063028327P → H in MCOP4. 1 PublicationCorresponds to variant dbSNP:rs121909356EnsemblClinVar.1
Leber congenital amaurosis 17 (LCA17)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07025457D → H in LCA17; reduced protein expression associated with decrease in growth factor activity. 1 PublicationCorresponds to variant dbSNP:rs397514725EnsemblClinVar.1
Natural variantiVAR_065151199A → 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 PublicationsCorresponds to variant dbSNP:rs387906794EnsemblClinVar.1
Natural variantiVAR_046903249A → E in KFS1, MCOP4 and LCA17; reduced protein expression associated with decrease in growth factor activity. 3 PublicationsCorresponds to variant dbSNP:rs121909352EnsemblClinVar.1
Natural variantiVAR_070255292E → D in LCA17; increased protein expression associated with decrease in growth factor activity. 1 PublicationCorresponds to variant dbSNP:rs1401531865Ensembl.1
Multiple synostoses syndrome 4 (SYNS4)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA bone disease characterized by multiple progressive joint fusions that commonly involve proximal interphalangeal, tarsal-carpal, humeroradial and cervical spine joints. Additional features can include progressive conductive deafness and facial dysmorphism. SYNS4 inheritance is autosomal dominant.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_080489429S → R in SYNS4; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs1554571225EnsemblClinVar.1
Natural variantiVAR_075366444Y → N in SYNS4; increases chondrogenic activity; increases SMAD1/5/8 signaling pathway activation; not inhibited by NOG. 1 PublicationCorresponds to variant dbSNP:rs1554571213EnsemblClinVar.1

Keywords - Diseasei

Disease mutation, Dwarfism, Leber congenital amaurosis, Microphthalmia

Organism-specific databases

DisGeNET

More...
DisGeNETi
392255

GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

More...
GeneReviewsi
GDF6

MalaCards human disease database

More...
MalaCardsi
GDF6
MIMi118100 phenotype
613094 phenotype
615360 phenotype
617898 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000156466

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...
Orphaneti
98938 Colobomatous microphthalmia
2345 Isolated Klippel-Feil syndrome
65 Leber congenital amaurosis

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA28636

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
GDF6

Domain mapping of disease mutations (DMDM)

More...
DMDMi
74748876

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section denotes the presence of an N-terminal signal peptide.<p><a href='/help/signal' target='_top'>More...</a></p>Signal peptidei1 – 22Sequence analysisAdd BLAST22
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section describes a propeptide, which is a part of a protein that is cleaved during maturation or activation. Once cleaved, a propeptide generally has no independent biological function.<p><a href='/help/propep' target='_top'>More...</a></p>PropeptideiPRO_000034220623 – 335Sequence analysisAdd BLAST313
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_0000042253336 – 455Growth/differentiation factor 6Add BLAST120

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section specifies the position and type of each covalently attached glycan group (mono-, di-, or polysaccharide).<p><a href='/help/carbohyd' target='_top'>More...</a></p>Glycosylationi114N-linked (GlcNAc...) asparagineSequence analysis1
<p>This subsection of the PTM / Processing":/help/ptm_processing_section section describes the positions of cysteine residues participating in disulfide bonds.<p><a href='/help/disulfid' target='_top'>More...</a></p>Disulfide bondi354 ↔ 420By similarity
Disulfide bondi383 ↔ 452By similarity
Disulfide bondi387 ↔ 454By similarity
Disulfide bondi419InterchainBy similarity

Keywords - PTMi

Cleavage on pair of basic residues, Disulfide bond, Glycoprotein

Proteomic databases

PaxDb, a database of protein abundance averages across all three domains of life

More...
PaxDbi
Q6KF10

PeptideAtlas

More...
PeptideAtlasi
Q6KF10

PRoteomics IDEntifications database

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PRIDEi
Q6KF10

ProteomicsDB human proteome resource

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ProteomicsDBi
66547

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q6KF10

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...
PhosphoSitePlusi
Q6KF10

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000156466 Expressed in 67 organ(s), highest expression level in placenta

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
Q6KF10 baseline and differential

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA045206

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Homodimer; disulfide-linked.

By similarity

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
134147, 3 interactors

Protein interaction database and analysis system

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IntActi
Q6KF10, 1 interactor

STRING: functional protein association networks

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STRINGi
9606.ENSP00000287020

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes the position of regions of compositional bias within the protein and the particular amino acids that are over-represented within those regions.<p><a href='/help/compbias' target='_top'>More...</a></p>Compositional biasi27 – 34Poly-Ser8
Compositional biasi255 – 258Poly-Pro4
Compositional biasi331 – 335Poly-Arg5

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the TGF-beta family.Curated

Keywords - Domaini

Signal

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG3900 Eukaryota
ENOG410XT8Z LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00940000162274

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

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HOGENOMi
HOG000231514

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
Q6KF10

KEGG Orthology (KO)

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KOi
K20012

Identification of Orthologs from Complete Genome Data

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OMAi
VPHDYML

Database of Orthologous Groups

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OrthoDBi
749511at2759

Database for complete collections of gene phylogenies

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PhylomeDBi
Q6KF10

TreeFam database of animal gene trees

More...
TreeFami
TF316134

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

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Gene3Di
2.10.90.10, 1 hit

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR029034 Cystine-knot_cytokine
IPR001839 TGF-b_C
IPR001111 TGF-b_propeptide
IPR015615 TGF-beta-rel
IPR017948 TGFb_CS

The PANTHER Classification System

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PANTHERi
PTHR11848 PTHR11848, 1 hit

Pfam protein domain database

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Pfami
View protein in Pfam
PF00019 TGF_beta, 1 hit
PF00688 TGFb_propeptide, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

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SMARTi
View protein in SMART
SM00204 TGFB, 1 hit

Superfamily database of structural and functional annotation

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SUPFAMi
SSF57501 SSF57501, 1 hit

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS00250 TGF_BETA_1, 1 hit
PS51362 TGF_BETA_2, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequence (1+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is in its mature form or if it represents the precursor.<p><a href='/help/sequence_processing' target='_top'>More...</a></p>Sequence processingi: The displayed sequence is further processed into a mature form.

This entry has 1 described isoform and 2 potential isoforms that are computationally mapped.Show allAlign All

Q6KF10-1 [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
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:iF9F365B99E8C659C
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A0A087X0X2A0A087X0X2_HUMAN
Growth/differentiation factor 6
GDF6
353Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0PK22A0PK22_HUMAN
GDF6 protein
GDF6
271Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti255P → L in AAH43222 (PubMed:15489334).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_06302442G → V in KFS1. 2 PublicationsCorresponds to variant dbSNP:rs121909354EnsemblClinVar.1
Natural variantiVAR_07025457D → H in LCA17; reduced protein expression associated with decrease in growth factor activity. 1 PublicationCorresponds to variant dbSNP:rs397514725EnsemblClinVar.1
Natural variantiVAR_023599110K → E. Corresponds to variant dbSNP:rs2245091Ensembl.1
Natural variantiVAR_063025119Q → R in MCOP4. 1 PublicationCorresponds to variant dbSNP:rs140579014EnsemblClinVar.1
Natural variantiVAR_065151199A → 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 PublicationsCorresponds to variant dbSNP:rs387906794EnsemblClinVar.1
Natural variantiVAR_063026216D → G in MCOP4. 1 Publication1
Natural variantiVAR_046903249A → E in KFS1, MCOP4 and LCA17; reduced protein expression associated with decrease in growth factor activity. 3 PublicationsCorresponds to variant dbSNP:rs121909352EnsemblClinVar.1
Natural variantiVAR_063027253Q → L in MCOP4. 1 PublicationCorresponds to variant dbSNP:rs121909355EnsemblClinVar.1
Natural variantiVAR_046904289L → P in KFS1. 1 PublicationCorresponds to variant dbSNP:rs63751220EnsemblClinVar.1
Natural variantiVAR_070255292E → D in LCA17; increased protein expression associated with decrease in growth factor activity. 1 PublicationCorresponds to variant dbSNP:rs1401531865Ensembl.1
Natural variantiVAR_063028327P → H in MCOP4. 1 PublicationCorresponds to variant dbSNP:rs121909356EnsemblClinVar.1
Natural variantiVAR_063029424K → R in KFS1. 1 PublicationCorresponds to variant dbSNP:rs121909353EnsemblClinVar.1
Natural variantiVAR_080489429S → R in SYNS4; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs1554571225EnsemblClinVar.1
Natural variantiVAR_075366444Y → N in SYNS4; increases chondrogenic activity; increases SMAD1/5/8 signaling pathway activation; not inhibited by NOG. 1 PublicationCorresponds to variant dbSNP:rs1554571213EnsemblClinVar.1

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
Links Updated
AJ537424 mRNA Translation: CAD60934.1
BC043222 mRNA Translation: AAH43222.1

The Consensus CDS (CCDS) project

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CCDSi
CCDS34926.1

NCBI Reference Sequences

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RefSeqi
NP_001001557.1, NM_001001557.3

Genome annotation databases

Ensembl eukaryotic genome annotation project

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Ensembli
ENST00000287020; ENSP00000287020; ENSG00000156466

Database of genes from NCBI RefSeq genomes

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GeneIDi
392255

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:392255

UCSC genome browser

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UCSCi
uc003yhp.3 human

Keywords - Coding sequence diversityi

Chromosomal rearrangement, Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AJ537424 mRNA Translation: CAD60934.1
BC043222 mRNA Translation: AAH43222.1
CCDSiCCDS34926.1
RefSeqiNP_001001557.1, NM_001001557.3

3D structure databases

Database of comparative protein structure models

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ModBasei
Search...

SWISS-MODEL Interactive Workspace

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SWISS-MODEL-Workspacei
Submit a new modelling project...

Protein-protein interaction databases

BioGridi134147, 3 interactors
IntActiQ6KF10, 1 interactor
STRINGi9606.ENSP00000287020

PTM databases

iPTMnetiQ6KF10
PhosphoSitePlusiQ6KF10

Polymorphism and mutation databases

BioMutaiGDF6
DMDMi74748876

Proteomic databases

PaxDbiQ6KF10
PeptideAtlasiQ6KF10
PRIDEiQ6KF10
ProteomicsDBi66547

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

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

Organism-specific databases

Comparative Toxicogenomics Database

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CTDi
392255
DisGeNETi392255

GeneCards: human genes, protein and diseases

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GeneCardsi
GDF6
GeneReviewsiGDF6
HGNCiHGNC:4221 GDF6
HPAiHPA045206
MalaCardsiGDF6
MIMi118100 phenotype
601147 gene
613094 phenotype
615360 phenotype
617898 phenotype
neXtProtiNX_Q6KF10
OpenTargetsiENSG00000156466
Orphaneti98938 Colobomatous microphthalmia
2345 Isolated Klippel-Feil syndrome
65 Leber congenital amaurosis
PharmGKBiPA28636

GenAtlas: human gene database

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GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG3900 Eukaryota
ENOG410XT8Z LUCA
GeneTreeiENSGT00940000162274
HOGENOMiHOG000231514
InParanoidiQ6KF10
KOiK20012
OMAiVPHDYML
OrthoDBi749511at2759
PhylomeDBiQ6KF10
TreeFamiTF316134

Enzyme and pathway databases

SignaLinkiQ6KF10
SIGNORiQ6KF10

Miscellaneous databases

The Gene Wiki collection of pages on human genes and proteins

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GeneWikii
GDF6

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

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GenomeRNAii
392255

Protein Ontology

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PROi
PR:Q6KF10

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000156466 Expressed in 67 organ(s), highest expression level in placenta
ExpressionAtlasiQ6KF10 baseline and differential

Family and domain databases

Gene3Di2.10.90.10, 1 hit
InterProiView protein in InterPro
IPR029034 Cystine-knot_cytokine
IPR001839 TGF-b_C
IPR001111 TGF-b_propeptide
IPR015615 TGF-beta-rel
IPR017948 TGFb_CS
PANTHERiPTHR11848 PTHR11848, 1 hit
PfamiView protein in Pfam
PF00019 TGF_beta, 1 hit
PF00688 TGFb_propeptide, 1 hit
SMARTiView protein in SMART
SM00204 TGFB, 1 hit
SUPFAMiSSF57501 SSF57501, 1 hit
PROSITEiView protein in PROSITE
PS00250 TGF_BETA_1, 1 hit
PS51362 TGF_BETA_2, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

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ProtoNeti
Search...

MobiDB: a database of protein disorder and mobility annotations

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MobiDBi
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiGDF6_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q6KF10
Secondary accession number(s): Q6PI58
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: October 11, 2005
Last sequence update: July 5, 2004
Last modified: July 31, 2019
This is version 125 of the entry and version 1 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>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.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  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. Human chromosome 8
    Human chromosome 8: entries, gene names and cross-references to MIM
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