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Q9NR23 (GDF3_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 118. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Growth/differentiation factor 3

Short name=GDF-3
Gene names
Name:GDF3
ORF Names:UNQ222/PRO248
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length364 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is further processed into a mature form.
Protein existenceEvidence at protein level

General annotation (Comments)

Subunit structure

Homodimer or heterodimer Potential. But, in contrast to other members of this family, cannot be disulfide-linked.

Subcellular location

Secreted Probable.

Involvement in disease

Klippel-Feil syndrome 3, autosomal dominant (KFS3) [MIM:613702]: 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.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.4

Microphthalmia, isolated, with coloboma, 6 (MCOPCB6) [MIM:613703]: 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. 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).
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.4

Microphthalmia, isolated, 7 (MCOP7) [MIM:613704]: 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.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.4

Sequence similarities

Belongs to the TGF-beta family.

Ontologies

Keywords
   Cellular componentSecreted
   Coding sequence diversityPolymorphism
   DiseaseDisease mutation
Microphthalmia
   DomainSignal
   Molecular functionCytokine
Growth factor
   PTMCleavage on pair of basic residues
Disulfide bond
Glycoprotein
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processendoderm development

Inferred from electronic annotation. Source: Ensembl

eye development

Inferred from mutant phenotype Ref.4. Source: UniProtKB

formation of anatomical boundary

Inferred from electronic annotation. Source: Ensembl

growth

Inferred from electronic annotation. Source: InterPro

in utero embryonic development

Inferred from electronic annotation. Source: Ensembl

mesoderm development

Inferred from electronic annotation. Source: Ensembl

negative regulation of BMP signaling pathway

Inferred from direct assay PubMed 18823971. Source: UniProt

negative regulation of epidermal cell differentiation

Inferred from direct assay PubMed 18823971. Source: UniProt

notochord development

Inferred from electronic annotation. Source: Ensembl

primitive streak formation

Inferred from electronic annotation. Source: Ensembl

regulation of cell fate commitment

Inferred from direct assay PubMed 18823971. Source: UniProt

response to dietary excess

Inferred from electronic annotation. Source: Ensembl

signal transduction

Inferred from electronic annotation. Source: Ensembl

skeletal system development

Inferred from mutant phenotype Ref.4. Source: UniProtKB

somite rostral/caudal axis specification

Inferred from electronic annotation. Source: Ensembl

   Cellular_componentcytoplasm

Inferred from direct assay PubMed 21805089. Source: UniProt

extracellular space

Inferred from electronic annotation. Source: UniProtKB-KW

   Molecular_functionprotein kinase binding

Inferred from physical interaction PubMed 21805089. Source: UniProt

Complete GO annotation...

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Signal peptide1 – 2424 Potential
Propeptide25 – 250226 Potential
PRO_0000033908
Chain251 – 364114Growth/differentiation factor 3
PRO_0000033909

Amino acid modifications

Glycosylation1121N-linked (GlcNAc...) Potential
Glycosylation3061N-linked (GlcNAc...) Potential
Disulfide bond264 ↔ 329 By similarity
Disulfide bond293 ↔ 361 By similarity
Disulfide bond297 ↔ 363 By similarity

Natural variations

Natural variant1951R → Q in MCOP7. Ref.4
VAR_065147
Natural variant2131G → R. Ref.3
Corresponds to variant rs12819884 [ dbSNP | Ensembl ].
VAR_052574
Natural variant2661R → C in KFS3 and MCOPCB6. Ref.4
Corresponds to variant rs140926412 [ dbSNP | Ensembl ].
VAR_065148
Natural variant2741R → W in MCOPCB6. Ref.4
VAR_065149
Natural variant3051L → P in MCOP7; also detected in a patient with bilateral iris coloboma. Ref.4
VAR_065150
Natural variant3281V → L.
Corresponds to variant rs2302516 [ dbSNP | Ensembl ].
VAR_020064

Sequences

Sequence LengthMass (Da)Tools
Q9NR23 [UniParc].

Last modified April 13, 2004. Version 3.
Checksum: E0D2EA86E2B73A0B

FASTA36441,387
        10         20         30         40         50         60 
MLRFLPDLAF SFLLILALGQ AVQFQEYVFL QFLGLDKAPS PQKFQPVPYI LKKIFQDREA 

        70         80         90        100        110        120 
AATTGVSRDL CYVKELGVRG NVLRFLPDQG FFLYPKKISQ ASSCLQKLLY FNLSAIKERE 

       130        140        150        160        170        180 
QLTLAQLGLD LGPNSYYNLG PELELALFLV QEPHVWGQTT PKPGKMFVLR SVPWPQGAVH 

       190        200        210        220        230        240 
FNLLDVAKDW NDNPRKNFGL FLEILVKEDR DSGVNFQPED TCARLRCSLH ASLLVVTLNP 

       250        260        270        280        290        300 
DQCHPSRKRR AAIPVPKLSC KNLCHRHQLF INFRDLGWHK WIIAPKGFMA NYCHGECPFS 

       310        320        330        340        350        360 
LTISLNSSNY AFMQALMHAV DPEIPQAVCI PTKLSPISML YQDNNDNVIL RHYEDMVVDE 


CGCG 

« Hide

References

« Hide 'large scale' references
[1]"Transcripts in human map region 12p13.3."
Lorenz B., White K.E., Econs M.J., Strom T.M.
Submitted (MAY-2000) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [MRNA].
[2]"The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment."
Clark H.F., Gurney A.L., Abaya E., Baker K., Baldwin D.T., Brush J., Chen J., Chow B., Chui C., Crowley C., Currell B., Deuel B., Dowd P., Eaton D., Foster J.S., Grimaldi C., Gu Q., Hass P.E. expand/collapse author list , Heldens S., Huang A., Kim H.S., Klimowski L., Jin Y., Johnson S., Lee J., Lewis L., Liao D., Mark M.R., Robbie E., Sanchez C., Schoenfeld J., Seshagiri S., Simmons L., Singh J., Smith V., Stinson J., Vagts A., Vandlen R.L., Watanabe C., Wieand D., Woods K., Xie M.-H., Yansura D.G., Yi S., Yu G., Yuan J., Zhang M., Zhang Z., Goddard A.D., Wood W.I., Godowski P.J., Gray A.M.
Genome Res. 13:2265-2270(2003) [PubMed] [Europe PMC] [Abstract]
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(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], VARIANT ARG-213.
Tissue: Kidney.
[4]"Mutation of the bone morphogenetic protein GDF3 causes ocular and skeletal anomalies."
Ye M., Berry-Wynne K.M., Asai-Coakwell M., Sundaresan P., Footz T., French C.R., Abitbol M., Fleisch V.C., Corbett N., Allison W.T., Drummond G., Walter M.A., Underhill T.M., Waskiewicz A.J., Lehmann O.J.
Hum. Mol. Genet. 19:287-298(2010) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT KFS3 CYS-266, VARIANTS MCOP7 GLN-195 AND PRO-305, VARIANTS MCOPCB6 CYS-266 AND TRP-274.
+Additional computationally mapped references.

Web resources

Wikipedia

GDF3 entry

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AF263538 mRNA. Translation: AAF91389.1.
AY358875 mRNA. Translation: AAQ89234.1.
BC030959 mRNA. Translation: AAH30959.1.
CCDSCCDS8581.1.
RefSeqNP_065685.1. NM_020634.1.
UniGeneHs.86232.

3D structure databases

ProteinModelPortalQ9NR23.
SMRQ9NR23. Positions 264-363.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

STRING9606.ENSP00000331745.

PTM databases

PhosphoSiteQ9NR23.

Polymorphism databases

DMDM46397885.

Proteomic databases

PaxDbQ9NR23.
PRIDEQ9NR23.

Protocols and materials databases

DNASU9573.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000329913; ENSP00000331745; ENSG00000184344.
GeneID9573.
KEGGhsa:9573.
UCSCuc001qte.3. human.

Organism-specific databases

CTD9573.
GeneCardsGC12M007842.
HGNCHGNC:4218. GDF3.
HPAHPA018468.
MIM606522. gene.
613702. phenotype.
613703. phenotype.
613704. phenotype.
neXtProtNX_Q9NR23.
Orphanet98938. Colobomatous microphthalmia.
2542. Isolated anophthalmia - microphthalmia.
2345. Isolated Klippel-Feil syndrome.
PharmGKBPA28633.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG255568.
HOGENOMHOG000249476.
HOVERGENHBG004860.
InParanoidQ9NR23.
KOK05495.
OMAYFNLSAI.
OrthoDBEOG71CFMF.
PhylomeDBQ9NR23.
TreeFamTF351789.

Gene expression databases

BgeeQ9NR23.
CleanExHS_GDF3.
GenevestigatorQ9NR23.

Family and domain databases

Gene3D2.10.90.10. 1 hit.
InterProIPR029034. Cystine-knot_cytokine.
IPR002405. 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]
SUPFAMSSF57501. SSF57501. 1 hit.
PROSITEPS00250. TGF_BETA_1. 1 hit.
PS51362. TGF_BETA_2. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GeneWikiGDF3.
GenomeRNAi9573.
NextBio35903.
PROQ9NR23.
SOURCESearch...

Entry information

Entry nameGDF3_HUMAN
AccessionPrimary (citable) accession number: Q9NR23
Secondary accession number(s): Q8NEJ4
Entry history
Integrated into UniProtKB/Swiss-Prot: February 21, 2001
Last sequence update: April 13, 2004
Last modified: July 9, 2014
This is version 118 of the entry and version 3 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 12

Human chromosome 12: entries, gene names and cross-references to MIM