Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Basket 0
(max 400 entries)x

Your basket is currently empty.

Select item(s) and click on "Add to basket" to create your own collection here
(400 entries max)

O95972

- BMP15_HUMAN

UniProt

O95972 - BMP15_HUMAN

Protein

Bone morphogenetic protein 15

Gene

BMP15

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
    • BLAST
    • Align
    • Format
    • Add to basket
    • History
      Entry version 124 (01 Oct 2014)
      Sequence version 2 (16 Aug 2004)
      Previous versions | rss
    • Help video
    • Feedback
    • Comment

    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

    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. extracellular space Source: UniProtKB-KW

    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

    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.
    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

    MVLLSILRIL FLCELVLFME HRAQMAEGGQ SSIALLAEAP TLPLIEELLE    50
    ESPGEQPRKP RLLGHSLRYM LELYRRSADS HGHPRENRTI GATMVRLVKP 100
    LTNVARPHRG TWHIQILGFP LRPNRGLYQL VRATVVYRHH LQLTRFNLSC 150
    HVEPWVQKNP TNHFPSSEGD SSKPSLMSNA WKEMDITQLV QQRFWNNKGH 200
    RILRLRFMCQ QQKDSGGLEL WHGTSSLDIA FLLLYFNDTH KSIRKAKFLP 250
    RGMEEFMERE SLLRRTRQAD GISAEVTASS SKHSGPENNQ CSLHPFQISF 300
    RQLGWDHWII APPFYTPNYC KGTCLRVLRD GLNSPNHAII QNLINQLVDQ 350
    SVPRPSCVPY KYVPISVLMI EANGSILYKE YEGMIAESCT CR 392
    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

    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.
    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

    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 1, 2014
    This is version 124 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