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O95972

- BMP15_HUMAN

UniProt

O95972 - BMP15_HUMAN

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Protein

Bone morphogenetic protein 15

Gene

BMP15

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

Functioni

May be involved in follicular development. Oocyte-specific growth/differentiation factor that stimulates folliculogenesis and granulosa cell (GC) growth.1 Publication

GO - Biological processi

  1. female gamete generation Source: ProtInc
  2. granulosa cell development Source: InterPro
  3. ovarian follicle development Source: InterPro
  4. positive regulation of transcription, DNA-templated Source: Ensembl
Complete GO annotation...

Keywords - Molecular functioni

Cytokine, Growth factor

Enzyme and pathway databases

SignaLinkiO95972.

Names & Taxonomyi

Protein namesi
Recommended name:
Bone morphogenetic protein 15
Short name:
BMP-15
Alternative name(s):
Growth/differentiation factor 9B
Short name:
GDF-9B
Gene namesi
Name:BMP15
Synonyms:GDF9B
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome X

Organism-specific databases

HGNCiHGNC:1068. BMP15.

Subcellular locationi

GO - Cellular componenti

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

Keywords - Cellular componenti

Secreted

Pathology & Biotechi

Involvement in diseasei

Ovarian dysgenesis 2 (ODG2) [MIM:300510]: A disorder characterized by lack of spontaneous pubertal development, primary amenorrhea, uterine hypoplasia, and hypergonadotropic hypogonadism as a result of streak gonads.1 Publication
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti235 – 2351Y → C in ODG2; dominant-negative effect; may cause relevant modifications in the conformation of the precursor protein possibly leading to altered processing and impaired activation of latent forms or to abnormal dimerization. 2 Publications
VAR_021195
Premature ovarian failure 4 (POF4) [MIM:300510]: An 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.5 Publications
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti61 – 611R → Q in POF4. 1 Publication
VAR_058975
Natural varianti61 – 611R → W in POF4. 1 Publication
VAR_058976
Natural varianti68 – 681R → W in POF4; leads to marked reduction of mature protein production; does not generate a complete recovery of wild-type activity in granulosa cell line transfected with defective mutant and with equal amount of wild-type protein. 2 Publications
Corresponds to variant rs104894763 [ dbSNP | Ensembl ].
VAR_058977
Natural varianti76 – 761R → C in POF4. 1 Publication
VAR_058978
Natural varianti76 – 761R → H in POF4. 1 Publication
VAR_058979
Natural varianti138 – 1381R → H in POF4; leads to marked reduction of mature protein production; does not generate a complete recovery of wild-type activity in granulosa cell line transfected with defective mutant and with equal amount of wild-type protein. 1 Publication
VAR_058981
Natural varianti148 – 1481L → P in POF4; leads to marked reduction of mature protein production; does not generate a complete recovery of wild-type activity in granulosa cell line transfected with defective mutant and with equal amount of wild-type protein. 2 Publications
Corresponds to variant rs114823607 [ dbSNP | Ensembl ].
VAR_058982
Natural varianti180 – 1801A → T in POF4; unknown pathological significance; no or minor deleterious effect detected. 4 Publications
Corresponds to variant rs104894767 [ dbSNP | Ensembl ].
VAR_058984
Natural varianti196 – 1961N → K in POF4. 1 Publication
VAR_058985
Natural varianti206 – 2061R → H in POF4. 1 Publication
VAR_058986
Natural varianti221 – 2211W → R in POF4. 1 Publication
VAR_058987
Natural varianti243 – 2431I → V in POF4. 1 Publication
VAR_058988
Natural varianti329 – 3291R → C in POF4. 1 Publication
VAR_066933

Keywords - Diseasei

Disease mutation, Premature ovarian failure

Organism-specific databases

MIMi300510. phenotype.
Orphaneti243. 46,XX gonadal dysgenesis.
619. Primary ovarian failure.
PharmGKBiPA25378.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Signal peptidei1 – 1818Sequence AnalysisAdd
BLAST
Propeptidei19 – 267249PRO_0000033892Add
BLAST
Chaini268 – 392125Bone morphogenetic protein 15PRO_0000033893Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Glycosylationi87 – 871N-linked (GlcNAc...)Sequence Analysis
Glycosylationi147 – 1471N-linked (GlcNAc...)Sequence Analysis
Glycosylationi237 – 2371N-linked (GlcNAc...)Sequence Analysis
Modified residuei268 – 2681Pyrrolidone carboxylic acid; in P16 and P171 Publication
Modified residuei273 – 2731Phosphoserine; in P161 Publication
Glycosylationi277 – 2771O-linked (HexNAc...); in P171 Publication
Disulfide bondi291 ↔ 357By similarity
Disulfide bondi320 ↔ 389By similarity
Disulfide bondi324 ↔ 391By similarity
Glycosylationi373 – 3731N-linked (GlcNAc...)Sequence Analysis

Keywords - PTMi

Disulfide bond, Glycoprotein, Phosphoprotein, Pyrrolidone carboxylic acid

Proteomic databases

PaxDbiO95972.
PRIDEiO95972.

PTM databases

PhosphoSiteiO95972.

Expressioni

Gene expression databases

BgeeiO95972.
CleanExiHS_BMP15.
GenevestigatoriO95972.

Interactioni

Subunit structurei

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

Protein-protein interaction databases

BioGridi114644. 4 interactions.
STRINGi9606.ENSP00000252677.

Structurei

3D structure databases

ProteinModelPortaliO95972.
SMRiO95972. Positions 290-392.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the TGF-beta family.Curated

Keywords - Domaini

Signal

Phylogenomic databases

eggNOGiNOG298347.
GeneTreeiENSGT00740000114888.
HOGENOMiHOG000095242.
HOVERGENiHBG004660.
InParanoidiO95972.
KOiK05498.
OMAiNQCSLHP.
OrthoDBiEOG70W3DJ.
PhylomeDBiO95972.
TreeFamiTF316134.

Family and domain databases

Gene3Di2.10.90.10. 1 hit.
InterProiIPR015923. BMP-15.
IPR029034. Cystine-knot_cytokine.
IPR002405. Inhibin_asu.
IPR001839. TGF-b_C.
IPR015615. TGF-beta-rel.
IPR017948. TGFb_CS.
[Graphical view]
PANTHERiPTHR11848. PTHR11848. 1 hit.
PTHR11848:SF22. PTHR11848:SF22. 1 hit.
PfamiPF00019. TGF_beta. 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.

O95972-1 [UniParc]FASTAAdd to Basket

« Hide

        10         20         30         40         50
MVLLSILRIL FLCELVLFME HRAQMAEGGQ SSIALLAEAP TLPLIEELLE
60 70 80 90 100
ESPGEQPRKP RLLGHSLRYM LELYRRSADS HGHPRENRTI GATMVRLVKP
110 120 130 140 150
LTNVARPHRG TWHIQILGFP LRPNRGLYQL VRATVVYRHH LQLTRFNLSC
160 170 180 190 200
HVEPWVQKNP TNHFPSSEGD SSKPSLMSNA WKEMDITQLV QQRFWNNKGH
210 220 230 240 250
RILRLRFMCQ QQKDSGGLEL WHGTSSLDIA FLLLYFNDTH KSIRKAKFLP
260 270 280 290 300
RGMEEFMERE SLLRRTRQAD GISAEVTASS SKHSGPENNQ CSLHPFQISF
310 320 330 340 350
RQLGWDHWII APPFYTPNYC KGTCLRVLRD GLNSPNHAII QNLINQLVDQ
360 370 380 390
SVPRPSCVPY KYVPISVLMI EANGSILYKE YEGMIAESCT CR
Length:392
Mass (Da):45,055
Last modified:August 16, 2004 - v2
Checksum:iA957275EF275A2E8
GO

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti5 – 51S → R Polymorphism with no or minor deleterious effect observed. 1 Publication
Corresponds to variant rs113099187 [ dbSNP | Ensembl ].
VAR_058974
Natural varianti61 – 611R → Q in POF4. 1 Publication
VAR_058975
Natural varianti61 – 611R → W in POF4. 1 Publication
VAR_058976
Natural varianti68 – 681R → W in POF4; leads to marked reduction of mature protein production; does not generate a complete recovery of wild-type activity in granulosa cell line transfected with defective mutant and with equal amount of wild-type protein. 2 Publications
Corresponds to variant rs104894763 [ dbSNP | Ensembl ].
VAR_058977
Natural varianti76 – 761R → C in POF4. 1 Publication
VAR_058978
Natural varianti76 – 761R → H in POF4. 1 Publication
VAR_058979
Natural varianti103 – 1031N → S.2 Publications
Corresponds to variant rs41308602 [ dbSNP | Ensembl ].
VAR_058980
Natural varianti138 – 1381R → H in POF4; leads to marked reduction of mature protein production; does not generate a complete recovery of wild-type activity in granulosa cell line transfected with defective mutant and with equal amount of wild-type protein. 1 Publication
VAR_058981
Natural varianti148 – 1481L → P in POF4; leads to marked reduction of mature protein production; does not generate a complete recovery of wild-type activity in granulosa cell line transfected with defective mutant and with equal amount of wild-type protein. 2 Publications
Corresponds to variant rs114823607 [ dbSNP | Ensembl ].
VAR_058982
Natural varianti180 – 1801A → F Requires 2 nucleotide substitutions. 1 Publication
VAR_058983
Natural varianti180 – 1801A → T in POF4; unknown pathological significance; no or minor deleterious effect detected. 4 Publications
Corresponds to variant rs104894767 [ dbSNP | Ensembl ].
VAR_058984
Natural varianti196 – 1961N → K in POF4. 1 Publication
VAR_058985
Natural varianti200 – 2001H → Y.1 Publication
Corresponds to variant rs202165852 [ dbSNP | Ensembl ].
VAR_066932
Natural varianti206 – 2061R → H in POF4. 1 Publication
VAR_058986
Natural varianti221 – 2211W → R in POF4. 1 Publication
VAR_058987
Natural varianti235 – 2351Y → C in ODG2; dominant-negative effect; may cause relevant modifications in the conformation of the precursor protein possibly leading to altered processing and impaired activation of latent forms or to abnormal dimerization. 2 Publications
VAR_021195
Natural varianti243 – 2431I → V in POF4. 1 Publication
VAR_058988
Natural varianti263 – 2631L → LL No or minor deleterious effect detected. 4 Publications
VAR_058989
Natural varianti329 – 3291R → C in POF4. 1 Publication
VAR_066933

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AF082350, AF082349 Genomic DNA. Translation: AAC99768.1.
AJ132405 Genomic DNA. Translation: CAB43531.1.
AL359914 Genomic DNA. Translation: CAI41226.1.
BC069155 mRNA. Translation: AAH69155.1.
BC117264 mRNA. Translation: AAI17265.1.
BC117266 mRNA. Translation: AAI17267.1.
CCDSiCCDS14334.1.
RefSeqiNP_005439.2. NM_005448.2.
UniGeneiHs.532692.

Genome annotation databases

EnsembliENST00000252677; ENSP00000252677; ENSG00000130385.
GeneIDi9210.
KEGGihsa:9210.
UCSCiuc011mnw.2. human.

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AF082350 , AF082349 Genomic DNA. Translation: AAC99768.1 .
AJ132405 Genomic DNA. Translation: CAB43531.1 .
AL359914 Genomic DNA. Translation: CAI41226.1 .
BC069155 mRNA. Translation: AAH69155.1 .
BC117264 mRNA. Translation: AAI17265.1 .
BC117266 mRNA. Translation: AAI17267.1 .
CCDSi CCDS14334.1.
RefSeqi NP_005439.2. NM_005448.2.
UniGenei Hs.532692.

3D structure databases

ProteinModelPortali O95972.
SMRi O95972. Positions 290-392.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 114644. 4 interactions.
STRINGi 9606.ENSP00000252677.

PTM databases

PhosphoSitei O95972.

Proteomic databases

PaxDbi O95972.
PRIDEi O95972.

Protocols and materials databases

DNASUi 9210.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000252677 ; ENSP00000252677 ; ENSG00000130385 .
GeneIDi 9210.
KEGGi hsa:9210.
UCSCi uc011mnw.2. human.

Organism-specific databases

CTDi 9210.
GeneCardsi GC0XP050670.
HGNCi HGNC:1068. BMP15.
MIMi 300247. gene.
300510. phenotype.
neXtProti NX_O95972.
Orphaneti 243. 46,XX gonadal dysgenesis.
619. Primary ovarian failure.
PharmGKBi PA25378.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG298347.
GeneTreei ENSGT00740000114888.
HOGENOMi HOG000095242.
HOVERGENi HBG004660.
InParanoidi O95972.
KOi K05498.
OMAi NQCSLHP.
OrthoDBi EOG70W3DJ.
PhylomeDBi O95972.
TreeFami TF316134.

Enzyme and pathway databases

SignaLinki O95972.

Miscellaneous databases

GeneWikii Bone_morphogenetic_protein_15.
GenomeRNAii 9210.
NextBioi 34527.
PROi O95972.
SOURCEi Search...

Gene expression databases

Bgeei O95972.
CleanExi HS_BMP15.
Genevestigatori O95972.

Family and domain databases

Gene3Di 2.10.90.10. 1 hit.
InterProi IPR015923. BMP-15.
IPR029034. Cystine-knot_cytokine.
IPR002405. Inhibin_asu.
IPR001839. TGF-b_C.
IPR015615. TGF-beta-rel.
IPR017948. TGFb_CS.
[Graphical view ]
PANTHERi PTHR11848. PTHR11848. 1 hit.
PTHR11848:SF22. PTHR11848:SF22. 1 hit.
Pfami PF00019. TGF_beta. 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. "The bone morphogenetic protein 15 gene is X-linked and expressed in oocytes."
    Dube J.L., Wang P., Elvin J., Lyons K.M., Celeste A.J., Matzuk M.M.
    Mol. Endocrinol. 12:1809-1817(1998) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANT SER-103.
  2. "Human growth differentiation factor 9 (GDF-9) and its novel homolog GDF-9B are expressed in oocytes during early folliculogenesis."
    Aaltonen J., Laitinen M.P., Vuojolainen K., Jaatinen R., Horelli-Kuitunen N., Seppae L., Louhio H., Tuuri T., Sjoeberg J., Buetzow R., Hovatta O., Dale L., Ritvos O.
    J. Clin. Endocrinol. Metab. 84:2744-2750(1999) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
  3. "The DNA sequence of the human X chromosome."
    Ross M.T., Grafham D.V., Coffey A.J., Scherer S., McLay K., Muzny D., Platzer M., Howell G.R., Burrows C., Bird C.P., Frankish A., Lovell F.L., Howe K.L., Ashurst J.L., Fulton R.S., Sudbrak R., Wen G., Jones M.C.
    , Hurles M.E., Andrews T.D., Scott C.E., Searle S., Ramser J., Whittaker A., Deadman R., Carter N.P., Hunt S.E., Chen R., Cree A., Gunaratne P., Havlak P., Hodgson A., Metzker M.L., Richards S., Scott G., Steffen D., Sodergren E., Wheeler D.A., Worley K.C., Ainscough R., Ambrose K.D., Ansari-Lari M.A., Aradhya S., Ashwell R.I., Babbage A.K., Bagguley C.L., Ballabio A., Banerjee R., Barker G.E., Barlow K.F., Barrett I.P., Bates K.N., Beare D.M., Beasley H., Beasley O., Beck A., Bethel G., Blechschmidt K., Brady N., Bray-Allen S., Bridgeman A.M., Brown A.J., Brown M.J., Bonnin D., Bruford E.A., Buhay C., Burch P., Burford D., Burgess J., Burrill W., Burton J., Bye J.M., Carder C., Carrel L., Chako J., Chapman J.C., Chavez D., Chen E., Chen G., Chen Y., Chen Z., Chinault C., Ciccodicola A., Clark S.Y., Clarke G., Clee C.M., Clegg S., Clerc-Blankenburg K., Clifford K., Cobley V., Cole C.G., Conquer J.S., Corby N., Connor R.E., David R., Davies J., Davis C., Davis J., Delgado O., Deshazo D., Dhami P., Ding Y., Dinh H., Dodsworth S., Draper H., Dugan-Rocha S., Dunham A., Dunn M., Durbin K.J., Dutta I., Eades T., Ellwood M., Emery-Cohen A., Errington H., Evans K.L., Faulkner L., Francis F., Frankland J., Fraser A.E., Galgoczy P., Gilbert J., Gill R., Gloeckner G., Gregory S.G., Gribble S., Griffiths C., Grocock R., Gu Y., Gwilliam R., Hamilton C., Hart E.A., Hawes A., Heath P.D., Heitmann K., Hennig S., Hernandez J., Hinzmann B., Ho S., Hoffs M., Howden P.J., Huckle E.J., Hume J., Hunt P.J., Hunt A.R., Isherwood J., Jacob L., Johnson D., Jones S., de Jong P.J., Joseph S.S., Keenan S., Kelly S., Kershaw J.K., Khan Z., Kioschis P., Klages S., Knights A.J., Kosiura A., Kovar-Smith C., Laird G.K., Langford C., Lawlor S., Leversha M., Lewis L., Liu W., Lloyd C., Lloyd D.M., Loulseged H., Loveland J.E., Lovell J.D., Lozado R., Lu J., Lyne R., Ma J., Maheshwari M., Matthews L.H., McDowall J., McLaren S., McMurray A., Meidl P., Meitinger T., Milne S., Miner G., Mistry S.L., Morgan M., Morris S., Mueller I., Mullikin J.C., Nguyen N., Nordsiek G., Nyakatura G., O'dell C.N., Okwuonu G., Palmer S., Pandian R., Parker D., Parrish J., Pasternak S., Patel D., Pearce A.V., Pearson D.M., Pelan S.E., Perez L., Porter K.M., Ramsey Y., Reichwald K., Rhodes S., Ridler K.A., Schlessinger D., Schueler M.G., Sehra H.K., Shaw-Smith C., Shen H., Sheridan E.M., Shownkeen R., Skuce C.D., Smith M.L., Sotheran E.C., Steingruber H.E., Steward C.A., Storey R., Swann R.M., Swarbreck D., Tabor P.E., Taudien S., Taylor T., Teague B., Thomas K., Thorpe A., Timms K., Tracey A., Trevanion S., Tromans A.C., d'Urso M., Verduzco D., Villasana D., Waldron L., Wall M., Wang Q., Warren J., Warry G.L., Wei X., West A., Whitehead S.L., Whiteley M.N., Wilkinson J.E., Willey D.L., Williams G., Williams L., Williamson A., Williamson H., Wilming L., Woodmansey R.L., Wray P.W., Yen J., Zhang J., Zhou J., Zoghbi H., Zorilla S., Buck D., Reinhardt R., Poustka A., Rosenthal A., Lehrach H., Meindl A., Minx P.J., Hillier L.W., Willard H.F., Wilson R.K., Waterston R.H., Rice C.M., Vaudin M., Coulson A., Nelson D.L., Weinstock G., Sulston J.E., Durbin R.M., Hubbard T., Gibbs R.A., Beck S., Rogers J., Bentley D.R.
    Nature 434:325-337(2005) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  4. "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].
  5. "Characterization of the post-translational modification of recombinant human BMP-15 mature protein."
    Saito S., Yano K., Sharma S., McMahon H.E., Shimasaki S.
    Protein Sci. 17:362-370(2008) [PubMed] [Europe PMC] [Abstract]
    Cited for: FUNCTION, PYROGLUTAMATE FORMATION AT GLN-268, PHOSPHORYLATION AT SER-273, GLYCOSYLATION AT THR-277, HOMODIMERIZATION.
  6. "The ratio of growth differentiation factor 9: bone morphogenetic protein 15 mRNA expression is tightly co-regulated and differs between species over a wide range of ovulation rates."
    Crawford J.L., McNatty K.P.
    Mol. Cell. Endocrinol. 348:339-343(2012) [PubMed] [Europe PMC] [Abstract]
    Cited for: SPECIES-SPECIFIC OVULATION RATE DETERMINATION.
  7. "Hypergonadotropic ovarian failure associated with an inherited mutation of human bone morphogenetic protein-15 (BMP15) gene."
    Di Pasquale E., Beck-Peccoz P., Persani L.
    Am. J. Hum. Genet. 75:106-111(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT ODG2 CYS-235, CHARACTERIZATION OF VARIANT ODG2 CYS-235.
  8. Cited for: VARIANTS POF4 PRO-148 AND THR-180, VARIANT LEU-263 INS.
  9. "Missense mutations in the BMP15 gene are associated with ovarian failure."
    Dixit H., Rao L.K., Padmalatha V.V., Kanakavalli M., Deenadayal M., Gupta N., Chakrabarty B., Singh L.
    Hum. Genet. 119:408-415(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS POF4 TRP-61; GLN-61; CYS-76; HIS-76; THR-180; LYS-196; HIS-206; ARG-221 AND VAL-243, VARIANTS SER-103; PHE-180 AND LEU-263 INS.
  10. Cited for: VARIANTS POF4 TRP-68; THR-180 AND CYS-235, VARIANT LEU-263 INS.
  11. "BMP15 mutations associated with primary ovarian insufficiency cause a defective production of bioactive protein."
    Rossetti R., Di Pasquale E., Marozzi A., Bione S., Toniolo D., Grammatico P., Nelson L.M., Beck-Peccoz P., Persani L.
    Hum. Mutat. 30:804-810(2009) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS POF4 TRP-68; HIS-138; PRO-148 AND THR-180, VARIANTS ARG-5 AND LEU-263 INS, CHARACTERIZATION OF VARIANTS POF4 TRP-68; HIS-138; PRO-148 AND THR-180, CHARACTERIZATION OF VARIANTS ARG-5 AND LEU-263 INS.
  12. "Analyses of growth differentiation factor 9 (GDF9) and bone morphogenetic protein 15 (BMP15) mutation in Chinese women with premature ovarian failure."
    Wang B., Wen Q., Ni F., Zhou S., Wang J., Cao Y., Ma X.
    Clin. Endocrinol. (Oxf.) 72:135-136(2010) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT TYR-200, VARIANT POF4 CYS-329.

Entry informationi

Entry nameiBMP15_HUMAN
AccessioniPrimary (citable) accession number: O95972
Secondary accession number(s): Q17RM6, Q5JST1, Q9UMS1
Entry historyi
Integrated into UniProtKB/Swiss-Prot: December 1, 2000
Last sequence update: August 16, 2004
Last modified: October 29, 2014
This is version 125 of the entry and version 2 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

Miscellaneous

The mature protein migrates in two distinct mature proteins, P16 (16KDa) and P17 (17KDa).
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.

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome X
    Human chromosome X: 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