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Q9NR23

- GDF3_HUMAN

UniProt

Q9NR23 - GDF3_HUMAN

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Protein

Growth/differentiation factor 3

Gene
GDF3, UNQ222/PRO248
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5 - Experimental evidence at protein leveli

Functioni

GO - Molecular functioni

  1. protein kinase binding Source: UniProt

GO - Biological processi

  1. endoderm development Source: Ensembl
  2. eye development Source: UniProtKB
  3. formation of anatomical boundary Source: Ensembl
  4. growth Source: InterPro
  5. in utero embryonic development Source: Ensembl
  6. mesoderm development Source: Ensembl
  7. negative regulation of BMP signaling pathway Source: UniProt
  8. negative regulation of epidermal cell differentiation Source: UniProt
  9. notochord development Source: Ensembl
  10. primitive streak formation Source: Ensembl
  11. regulation of cell fate commitment Source: UniProt
  12. response to dietary excess Source: Ensembl
  13. signal transduction Source: Ensembl
  14. skeletal system development Source: UniProtKB
  15. 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: Chromosome 12

Organism-specific databases

HGNCiHGNC:4218. GDF3.

Subcellular locationi

Secreted Inferred

GO - Cellular componenti

  1. cytoplasm Source: UniProt
  2. extracellular space Source: UniProtKB-KW
Complete GO annotation...

Keywords - Cellular componenti

Secreted

Pathology & Biotechi

Involvement in diseasei

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.1 Publication
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) [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.1 Publication
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) [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.1 Publication
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 – 2424 Reviewed predictionAdd
BLAST
Propeptidei25 – 250226 Reviewed predictionPRO_0000033908Add
BLAST
Chaini251 – 364114Growth/differentiation factor 3PRO_0000033909Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Glycosylationi112 – 1121N-linked (GlcNAc...) Reviewed prediction
Disulfide bondi264 ↔ 329 By similarity
Disulfide bondi293 ↔ 361 By similarity
Disulfide bondi297 ↔ 363 By similarity
Glycosylationi306 – 3061N-linked (GlcNAc...) Reviewed prediction

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 Reviewed prediction. But, in contrast to other members of this family, cannot be disulfide-linked.

Protein-protein interaction databases

STRINGi9606.ENSP00000331745.

Structurei

3D structure databases

ProteinModelPortaliQ9NR23.
SMRiQ9NR23. Positions 264-363.

Family & Domainsi

Sequence similaritiesi

Belongs to the TGF-beta family.

Keywords - Domaini

Signal

Phylogenomic databases

eggNOGiNOG255568.
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

MLRFLPDLAF SFLLILALGQ AVQFQEYVFL QFLGLDKAPS PQKFQPVPYI    50
LKKIFQDREA AATTGVSRDL CYVKELGVRG NVLRFLPDQG FFLYPKKISQ 100
ASSCLQKLLY FNLSAIKERE QLTLAQLGLD LGPNSYYNLG PELELALFLV 150
QEPHVWGQTT PKPGKMFVLR SVPWPQGAVH FNLLDVAKDW NDNPRKNFGL 200
FLEILVKEDR DSGVNFQPED TCARLRCSLH ASLLVVTLNP DQCHPSRKRR 250
AAIPVPKLSC KNLCHRHQLF INFRDLGWHK WIIAPKGFMA NYCHGECPFS 300
LTISLNSSNY AFMQALMHAV DPEIPQAVCI PTKLSPISML YQDNNDNVIL 350
RHYEDMVVDE CGCG 364
Length:364
Mass (Da):41,387
Last modified:April 13, 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:
EMBL
GenBank
DDBJ
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:
EMBL
GenBank
DDBJ
Links Updated
AF263538 mRNA. Translation: AAF91389.1 .
AY358875 mRNA. Translation: AAQ89234.1 .
BC030959 mRNA. Translation: AAH30959.1 .
CCDSi CCDS8581.1.
RefSeqi NP_065685.1. NM_020634.1.
UniGenei Hs.86232.

3D structure databases

ProteinModelPortali Q9NR23.
SMRi Q9NR23. Positions 264-363.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

STRINGi 9606.ENSP00000331745.

PTM databases

PhosphoSitei Q9NR23.

Polymorphism databases

DMDMi 46397885.

Proteomic databases

PaxDbi Q9NR23.
PRIDEi Q9NR23.

Protocols and materials databases

DNASUi 9573.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000329913 ; ENSP00000331745 ; ENSG00000184344 .
GeneIDi 9573.
KEGGi hsa:9573.
UCSCi uc001qte.3. human.

Organism-specific databases

CTDi 9573.
GeneCardsi GC12M007842.
HGNCi HGNC:4218. GDF3.
HPAi HPA018468.
MIMi 606522. gene.
613702. phenotype.
613703. phenotype.
613704. phenotype.
neXtProti NX_Q9NR23.
Orphaneti 98938. Colobomatous microphthalmia.
2542. Isolated anophthalmia - microphthalmia.
2345. Isolated Klippel-Feil syndrome.
PharmGKBi PA28633.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG255568.
HOGENOMi HOG000249476.
HOVERGENi HBG004860.
InParanoidi Q9NR23.
KOi K05495.
OMAi YFNLSAI.
OrthoDBi EOG71CFMF.
PhylomeDBi Q9NR23.
TreeFami TF351789.

Miscellaneous databases

GeneWikii GDF3.
GenomeRNAii 9573.
NextBioi 35903.
PROi Q9NR23.
SOURCEi Search...

Gene expression databases

Bgeei Q9NR23.
CleanExi HS_GDF3.
Genevestigatori Q9NR23.

Family and domain databases

Gene3Di 2.10.90.10. 1 hit.
InterProi IPR029034. Cystine-knot_cytokine.
IPR002405. Inhibin_asu.
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 ]
PRINTSi PR00669. INHIBINA.
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. "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. 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. 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 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 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