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UniProtKB - O60383 (GDF9_HUMAN)

Protein

Growth/differentiation factor 9

Gene

GDF9

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

Functioni

Required for ovarian folliculogenesis. Promotes primordial follicle development. Stimulates granulosa cell proliferation. Promotes cell transition from G0/G1 to S and G2/M phases, through an increase of CCND1 and CCNE1 expression, and RB1 phosphorylation. It regulates STAR expression and cAMP-dependent progesterone release in granulosa and thecal cells. Attenuates the suppressive effects of activin A on STAR expression and progesterone production by increasing the expression of inhibin B. It suppresses FST and FSTL3 production in granulosa-lutein cells.5 Publications

Miscellaneous

Ovarian physiology and fertility are controlled by endocrine and paracrine signals. These act in a species-dependent manner and determine the ovulation quota in different mammalian species. While humans, and mammals such as the cow or red deer, normally ovulate only one egg per cycle, other mammals such as mouse and pig can ovulate in excess of ten per cycle. The mechanisms that regulate the species-specific differences in the number of follicles that go onto ovulate during each reproductive cycle are poorly understood. According to PubMed:21970812, mRNA expression levels of GDF9 and BMP15 are tightly coregulated within each species and influence species-specific ovulation-rates.

GO - Molecular functioni

  • cytokine activity Source: GO_Central
  • growth factor activity Source: ProtInc
  • transforming growth factor beta receptor binding Source: GO_Central
View the complete GO annotation on QuickGO ...

GO - Biological processi

View the complete GO annotation on QuickGO ...

Keywordsi

Molecular functionCytokine, Growth factor

Names & Taxonomyi

Protein namesi
Recommended name:
Growth/differentiation factor 9
Short name:
GDF-9
Gene namesi
Name:GDF9
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
Proteomesi
  • UP000005640 Componenti: Chromosome 5

Organism-specific databases

EuPathDBiHostDB:ENSG00000164404.8
HGNCiHGNC:4224 GDF9
MIMi601918 gene
neXtProtiNX_O60383

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; Source: COMPARTMENTS

Keywords - Cellular componenti

Secreted

Pathology & Biotechi

Involvement in diseasei

Altered GDF9 function may be involved in ovarian disorders and contribute to the likelihood of dizygotic twinning.1 Publication
Premature ovarian failure 14 (POF14)7 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn ovarian disorder defined as the cessation of ovarian function under the age of 40 years. It is characterized by oligomenorrhea or amenorrhea, in the presence of elevated levels of serum gonadotropins and low estradiol.
See also OMIM:618014
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_06693457D → Y in POF14; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs138136756Ensembl.1
Natural variantiVAR_05894567K → E in POF14; unknown pathological significance. 1 Publication1
Natural variantiVAR_066935103P → S in POF14; unknown pathological significance; also found at higher frequency in mothers of dizygotic twins than in controls. 2 PublicationsCorresponds to variant dbSNP:rs61754583Ensembl.1
Natural variantiVAR_066937146R → C in POF14; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs76349024Ensembl.1
Natural variantiVAR_058946186S → Y in POF14; unknown pathological significance. 1 Publication1
Natural variantiVAR_058947216V → M in POF14; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs1205723048Ensembl.1
Natural variantiVAR_066938238T → A in POF14; unknown pathological significance. 1 Publication1
Natural variantiVAR_066940428S → T in POF14; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs118080183Ensembl.1

Keywords - Diseasei

Premature ovarian failure

Organism-specific databases

DisGeNETi2661
MalaCardsiGDF9
MIMi618014 phenotype
OpenTargetsiENSG00000164404
Orphaneti619 NON RARE IN EUROPE: Primary ovarian failure
PharmGKBiPA28639

Polymorphism and mutation databases

BioMutaiGDF9

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 24Sequence analysisAdd BLAST24
PropeptideiPRO_000003398025 – 319Sequence analysisAdd BLAST295
ChainiPRO_0000033981320 – 454Growth/differentiation factor 9Add BLAST135

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Glycosylationi106N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi163N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi236N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi255N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi268N-linked (GlcNAc...) asparagineSequence analysis1
Modified residuei325Phosphoserine; by CK1 Publication1
Glycosylationi338N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi353 ↔ 419By similarity
Disulfide bondi382 ↔ 451By similarity
Disulfide bondi386 ↔ 453By similarity

Post-translational modificationi

Phosphorylated; phosphorylation is critical for GDF9 function. In vitro, can be phosphorylated by CK at Ser-325.2 Publications

Keywords - PTMi

Cleavage on pair of basic residues, Disulfide bond, Glycoprotein, Phosphoprotein

Proteomic databases

PaxDbiO60383
PeptideAtlasiO60383
PRIDEiO60383
ProteomicsDBi49386

PTM databases

iPTMnetiO60383
PhosphoSitePlusiO60383

Expressioni

Tissue specificityi

Expressed in ovarian granulosa cells. Present in oocytes of primary follicles (at protein level).2 Publications

Gene expression databases

BgeeiENSG00000164404 Expressed in 96 organ(s), highest expression level in oocyte
CleanExiHS_GDF9
ExpressionAtlasiO60383 baseline and differential
GenevisibleiO60383 HS

Organism-specific databases

HPAiHPA069146

Interactioni

Subunit structurei

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

GO - Molecular functioni

View the complete GO annotation on QuickGO ...

Protein-protein interaction databases

BioGridi108930, 51 interactors
IntActiO60383, 39 interactors
MINTiO60383
STRINGi9606.ENSP00000296875

Structurei

3D structure databases

ProteinModelPortaliO60383
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the TGF-beta family.Curated

Keywords - Domaini

Signal

Phylogenomic databases

eggNOGiKOG3900 Eukaryota
ENOG410XT8Z LUCA
GeneTreeiENSGT00910000143982
HOGENOMiHOG000073526
HOVERGENiHBG004660
InParanoidiO60383
KOiK22673
OMAiHMSVNFT
OrthoDBiEOG091G09RN
PhylomeDBiO60383
TreeFamiTF351788

Family and domain databases

Gene3Di2.10.90.10, 1 hit
InterProiView protein in InterPro
IPR029034 Cystine-knot_cytokine
IPR015617 Growth_differentiation_fac-9
IPR001839 TGF-b_C
IPR015615 TGF-beta-rel
IPR017948 TGFb_CS
PANTHERiPTHR11848 PTHR11848, 1 hit
PTHR11848:SF19 PTHR11848:SF19, 1 hit
PfamiView protein in Pfam
PF00019 TGF_beta, 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

Sequence (1+)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry has 1 described isoform and 1 potential isoform that is computationally mapped.Show allAlign All

O60383-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MARPNKFLLW FCCFAWLCFP ISLGSQASGG EAQIAASAEL ESGAMPWSLL 
        60         70         80         90        100
QHIDERDRAG LLPALFKVLS VGRGGSPRLQ PDSRALHYMK KLYKTYATKE 
       110        120        130        140        150
GIPKSNRSHL YNTVRLFTPC TRHKQAPGDQ VTGILPSVEL LFNLDRITTV 
       160        170        180        190        200
EHLLKSVLLY NINNSVSFSS AVKCVCNLMI KEPKSSSRTL GRAPYSFTFN 
       210        220        230        240        250
SQFEFGKKHK WIQIDVTSLL QPLVASNKRS IHMSINFTCM KDQLEHPSAQ 
       260        270        280        290        300
NGLFNMTLVS PSLILYLNDT SAQAYHSWYS LHYKRRPSQG PDQERSLSAY 
       310        320        330        340        350
PVGEEAAEDG RSSHHRHRRG QETVSSELKK PLGPASFNLS EYFRQFLLPQ 
       360        370        380        390        400
NECELHDFRL SFSQLKWDNW IVAPHRYNPR YCKGDCPRAV GHRYGSPVHT 
       410        420        430        440        450
MVQNIIYEKL DSSVPRPSCV PAKYSPLSVL TIEPDGSIAY KEYEDMIATK 

CTCR
Length:454
Mass (Da):51,444
Last modified:August 1, 1998 - v1
Checksum:i94EA366E90CDBC27
GO

Computationally mapped potential isoform sequencesi

There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
B4DXG3B4DXG3_HUMAN
Growth/differentiation factor 9
GDF9
366Annotation score:

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_06693457D → Y in POF14; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs138136756Ensembl.1
Natural variantiVAR_05894567K → E in POF14; unknown pathological significance. 1 Publication1
Natural variantiVAR_066935103P → S in POF14; unknown pathological significance; also found at higher frequency in mothers of dizygotic twins than in controls. 2 PublicationsCorresponds to variant dbSNP:rs61754583Ensembl.1
Natural variantiVAR_066936121T → I Rare polymorphism; found at higher frequency in mothers of dizygotic twins than in controls. 1 PublicationCorresponds to variant dbSNP:rs149821575Ensembl.1
Natural variantiVAR_066937146R → C in POF14; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs76349024Ensembl.1
Natural variantiVAR_058946186S → Y in POF14; unknown pathological significance. 1 Publication1
Natural variantiVAR_058947216V → M in POF14; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs1205723048Ensembl.1
Natural variantiVAR_066938238T → A in POF14; unknown pathological significance. 1 Publication1
Natural variantiVAR_066939374P → L Rare polymorphism; found at higher frequency in mothers of dizygotic twins than in controls. 1 PublicationCorresponds to variant dbSNP:rs373477788Ensembl.1
Natural variantiVAR_066940428S → T in POF14; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs118080183Ensembl.1
Natural variantiVAR_066941454R → C Rare polymorphism; found at higher frequency in mothers of dizygotic twins than in controls. 1 PublicationCorresponds to variant dbSNP:rs61754582Ensembl.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AC004500 Genomic DNA Translation: AAC08450.1
BC096228 mRNA Translation: AAH96228.1
BC096229 mRNA Translation: AAH96229.1
BC096230 mRNA Translation: AAH96230.1
BC096231 mRNA Translation: AAH96231.1
CCDSiCCDS4162.1
RefSeqiNP_001275753.1, NM_001288824.2
NP_005251.1, NM_005260.5
XP_011541610.1, XM_011543308.2
UniGeneiHs.25022
Hs.739230
Hs.742490

Genome annotation databases

EnsembliENST00000378673; ENSP00000367942; ENSG00000164404
GeneIDi2661
KEGGihsa:2661
UCSCiuc003kxz.3 human

Keywords - Coding sequence diversityi

Polymorphism

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AC004500 Genomic DNA Translation: AAC08450.1
BC096228 mRNA Translation: AAH96228.1
BC096229 mRNA Translation: AAH96229.1
BC096230 mRNA Translation: AAH96230.1
BC096231 mRNA Translation: AAH96231.1
CCDSiCCDS4162.1
RefSeqiNP_001275753.1, NM_001288824.2
NP_005251.1, NM_005260.5
XP_011541610.1, XM_011543308.2
UniGeneiHs.25022
Hs.739230
Hs.742490

3D structure databases

ProteinModelPortaliO60383
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi108930, 51 interactors
IntActiO60383, 39 interactors
MINTiO60383
STRINGi9606.ENSP00000296875

PTM databases

iPTMnetiO60383
PhosphoSitePlusiO60383

Polymorphism and mutation databases

BioMutaiGDF9

Proteomic databases

PaxDbiO60383
PeptideAtlasiO60383
PRIDEiO60383
ProteomicsDBi49386

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000378673; ENSP00000367942; ENSG00000164404
GeneIDi2661
KEGGihsa:2661
UCSCiuc003kxz.3 human

Organism-specific databases

CTDi2661
DisGeNETi2661
EuPathDBiHostDB:ENSG00000164404.8
GeneCardsiGDF9
HGNCiHGNC:4224 GDF9
HPAiHPA069146
MalaCardsiGDF9
MIMi601918 gene
618014 phenotype
neXtProtiNX_O60383
OpenTargetsiENSG00000164404
Orphaneti619 NON RARE IN EUROPE: Primary ovarian failure
PharmGKBiPA28639
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG3900 Eukaryota
ENOG410XT8Z LUCA
GeneTreeiENSGT00910000143982
HOGENOMiHOG000073526
HOVERGENiHBG004660
InParanoidiO60383
KOiK22673
OMAiHMSVNFT
OrthoDBiEOG091G09RN
PhylomeDBiO60383
TreeFamiTF351788

Miscellaneous databases

ChiTaRSiGDF9 human
GeneWikiiGrowth_differentiation_factor-9
GenomeRNAii2661
PROiPR:O60383
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000164404 Expressed in 96 organ(s), highest expression level in oocyte
CleanExiHS_GDF9
ExpressionAtlasiO60383 baseline and differential
GenevisibleiO60383 HS

Family and domain databases

Gene3Di2.10.90.10, 1 hit
InterProiView protein in InterPro
IPR029034 Cystine-knot_cytokine
IPR015617 Growth_differentiation_fac-9
IPR001839 TGF-b_C
IPR015615 TGF-beta-rel
IPR017948 TGFb_CS
PANTHERiPTHR11848 PTHR11848, 1 hit
PTHR11848:SF19 PTHR11848:SF19, 1 hit
PfamiView protein in Pfam
PF00019 TGF_beta, 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
ProtoNetiSearch...

Entry informationi

Entry nameiGDF9_HUMAN
AccessioniPrimary (citable) accession number: O60383
Secondary accession number(s): Q4VAW5
Entry historyiIntegrated into UniProtKB/Swiss-Prot: July 15, 1999
Last sequence update: August 1, 1998
Last modified: November 7, 2018
This is version 147 of the entry and version 1 of the sequence. See 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. 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 5
    Human chromosome 5: entries, gene names and cross-references to MIM
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