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Protein

Growth/differentiation factor 3

Gene

GDF3

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

Functioni

GO - Molecular functioni

  1. cytokine activity Source: GO_Central
  2. protein kinase binding Source: UniProtKB
  3. transforming growth factor beta receptor binding Source: GO_Central

GO - Biological processi

  1. cell development Source: GO_Central
  2. endoderm development Source: Ensembl
  3. eye development Source: UniProtKB
  4. formation of anatomical boundary Source: Ensembl
  5. growth Source: InterPro
  6. in utero embryonic development Source: Ensembl
  7. mesoderm development Source: Ensembl
  8. negative regulation of BMP signaling pathway Source: UniProtKB
  9. negative regulation of epidermal cell differentiation Source: UniProtKB
  10. negative regulation of myoblast differentiation Source: Ensembl
  11. notochord development Source: Ensembl
  12. positive regulation of pathway-restricted SMAD protein phosphorylation Source: GO_Central
  13. primitive streak formation Source: Ensembl
  14. regulation of apoptotic process Source: GO_Central
  15. regulation of cell fate commitment Source: UniProtKB
  16. regulation of MAPK cascade Source: GO_Central
  17. response to dietary excess Source: Ensembl
  18. skeletal system development Source: UniProtKB
  19. SMAD protein signal transduction Source: GO_Central
  20. somite rostral/caudal axis specification Source: Ensembl
Complete GO annotation...

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 Componenti: Chromosome 12

Organism-specific databases

HGNCiHGNC:4218. GDF3.

Subcellular locationi

Secreted Curated

GO - Cellular componenti

  1. cytoplasm Source: UniProtKB
  2. extracellular space Source: GO_Central
Complete GO annotation...

Keywords - Cellular componenti

Secreted

Pathology & Biotechi

Involvement in diseasei

Klippel-Feil syndrome 3, autosomal dominant (KFS3)1 Publication

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.

See also OMIM:613702
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)1 Publication

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. 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).

See also OMIM:613703
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)1 Publication

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.

See also OMIM:613704
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

BioGridi114942. 2 interactions.
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.
GeneTreeiENSGT00760000118883.
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

        10         20         30         40         50
MLRFLPDLAF SFLLILALGQ AVQFQEYVFL QFLGLDKAPS PQKFQPVPYI
60 70 80 90 100
LKKIFQDREA AATTGVSRDL CYVKELGVRG NVLRFLPDQG FFLYPKKISQ
110 120 130 140 150
ASSCLQKLLY FNLSAIKERE QLTLAQLGLD LGPNSYYNLG PELELALFLV
160 170 180 190 200
QEPHVWGQTT PKPGKMFVLR SVPWPQGAVH FNLLDVAKDW NDNPRKNFGL
210 220 230 240 250
FLEILVKEDR DSGVNFQPED TCARLRCSLH ASLLVVTLNP DQCHPSRKRR
260 270 280 290 300
AAIPVPKLSC KNLCHRHQLF INFRDLGWHK WIIAPKGFMA NYCHGECPFS
310 320 330 340 350
LTISLNSSNY AFMQALMHAV DPEIPQAVCI PTKLSPISML YQDNNDNVIL
360
RHYEDMVVDE CGCG
Length:364
Mass (Da):41,387
Last modified:April 12, 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:
EMBLi
GenBanki
DDBJi
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:
EMBLi
GenBanki
DDBJi
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.

3D structure databases

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

Protein-protein interaction databases

BioGridi114942. 2 interactions.
STRINGi9606.ENSP00000331745.

PTM databases

PhosphoSiteiQ9NR23.

Polymorphism databases

DMDMi46397885.

Proteomic databases

PaxDbiQ9NR23.
PRIDEiQ9NR23.

Protocols and materials databases

DNASUi9573.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

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

Organism-specific databases

CTDi9573.
GeneCardsiGC12M007842.
HGNCiHGNC:4218. GDF3.
HPAiHPA018468.
MIMi606522. gene.
613702. phenotype.
613703. phenotype.
613704. phenotype.
neXtProtiNX_Q9NR23.
Orphaneti98938. Colobomatous microphthalmia.
2542. Isolated anophthalmia - microphthalmia.
2345. Isolated Klippel-Feil syndrome.
PharmGKBiPA28633.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiNOG255568.
GeneTreeiENSGT00760000118883.
HOGENOMiHOG000249476.
HOVERGENiHBG004860.
InParanoidiQ9NR23.
KOiK05495.
OMAiYFNLSAI.
OrthoDBiEOG71CFMF.
PhylomeDBiQ9NR23.
TreeFamiTF351789.

Miscellaneous databases

GeneWikiiGDF3.
GenomeRNAii9573.
NextBioi35903.
PROiQ9NR23.
SOURCEiSearch...

Gene expression databases

BgeeiQ9NR23.
CleanExiHS_GDF3.
GenevestigatoriQ9NR23.

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]
ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  1. "Transcripts in human map region 12p13.3."
    Lorenz B., White K.E., Econs M.J., Strom T.M.
    Submitted (APR-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(2003) [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 20, 2001
Last sequence update: April 12, 2004
Last modified: March 3, 2015
This is version 123 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

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into Uniref entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.