[1]
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NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
TISSUE=Bone marrow, and Peripheral blood;
DOI=10.1038/36593; PubMed=9367155 [NCBI, ExPASy, EBI, Israel, Japan]
Anderson D.M.,
Maraskovsky E.,
Billingsley W.L.,
Dougall W.C.,
Tometsko M.E.,
Roux E.R.,
Teepe M.C.,
DuBose R.F.,
Cosman D.,
Galibert L.;
"A homologue of the TNF receptor and its ligand enhance T-cell growth and dendritic-cell function.";
Nature 390:175-179(1997).
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[2]
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NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
TISSUE=Lymph node;
DOI=10.1016/S0092-8674(00)81569-X; PubMed=9568710 [NCBI, ExPASy, EBI, Israel, Japan]
Lacey D.L.,
Timms E.,
Tan H.-L.,
Kelley M.J.,
Dunstan C.R.,
Burgess T.,
Elliott R.,
Colombero A.,
Elliott G.,
Scully S.,
Hsu H.,
Sullivan J.,
Hawkins N.,
Davy E.,
Capparelli C.,
Eli A.,
Qian Y.-X.,
Kaufman S.,
Sarosi I.,
Shalhoub V.,
Senaldi G.,
Guo J.,
Delaney J.,
Boyle W.J.;
"Osteoprotegerin ligand is a cytokine that regulates osteoclast differentiation and activation.";
Cell 93:165-176(1998).
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[3]
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NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1; 2 AND 3).
Ikeda T.,
Kuroyama H.,
Hirokawa K.;
"Determination of human RANKL isoforms.";
Submitted (JUN-2001) to the EMBL/GenBank/DDBJ databases.
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[4]
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NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2).
TISSUE=Tongue;
DOI=10.1006/bbrc.2000.2314; PubMed=10708588 [NCBI, ExPASy, EBI, Israel, Japan]
Nagai M.,
Kyakumoto S.,
Sato N.;
"Cancer cells responsible for humoral hypercalcemia express mRNA encoding a secreted form of ODF/TRANCE that induces osteoclast formation.";
Biochem. Biophys. Res. Commun. 269:532-536(2000).
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[5]
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NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
TISSUE=Lung;
DOI=10.1101/gr.2596504; PubMed=15489334 [NCBI, ExPASy, EBI, Israel, Japan] The MGC Project Team;
"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).";
Genome Res. 14:2121-2127(2004).
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[6]
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NUCLEOTIDE SEQUENCE [MRNA] OF 73-317.
TISSUE=Thymocyte;
DOI=10.1074/jbc.272.40.25190; PubMed=9312132 [NCBI, ExPASy, EBI, Israel, Japan]
Wong B.R.,
Rho J.,
Arron J.,
Robinson E.,
Orlinick J.,
Chao M.,
Kalachikov S.,
Cayani E.,
Bartlett F.S. III,
Frankel W.N.,
Lee S.Y.,
Choi Y.;
"TRANCE is a novel ligand of the tumor necrosis factor receptor family that activates c-Jun N-terminal kinase in T cells.";
J. Biol. Chem. 272:25190-25194(1997).
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[7]
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VARIANT OPTB2 LYS-199.
DOI=10.1038/ng2076; PubMed=17632511 [NCBI, ExPASy, EBI, Israel, Japan]
Sobacchi C.,
Frattini A.,
Guerrini M.M.,
Abinun M.,
Pangrazio A.,
Susani L.,
Bredius R.,
Mancini G.,
Cant A.,
Bishop N.,
Grabowski P.,
Del Fattore A.,
Messina C.,
Errigo G.,
Coxon F.P.,
Scott D.I.,
Teti A.,
Rogers M.J.,
Vezzoni P.,
Villa A.,
Helfrich M.H.;
"Osteoclast-poor human osteopetrosis due to mutations in the gene encoding RANKL.";
Nat. Genet. 39:960-962(2007).
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- FUNCTION: Cytokine that binds to TNFRSF11B/OPG and to TNFRSF11A/RANK. Osteoclast differentiation and activation factor. Augments the ability of dendritic cells to stimulate naive T-cell proliferation. May be an important regulator of interactions between T-cells and dendritic cells and may play a role in the regulation of the T-cell-dependent immune response. May also play an important role in enhanced bone-resorption in humoral hypercalcemia of malignancy.
- SUBUNIT: Homotrimer (By similarity).
- SUBCELLULAR LOCATION: Isoform 1: Cell membrane; Single-pass type II membrane protein.
- SUBCELLULAR LOCATION: Isoform 3: Cell membrane; Single-pass type II membrane protein.
- SUBCELLULAR LOCATION: Isoform 2: Cytoplasm (By similarity).
- SUBCELLULAR LOCATION: Tumor necrosis factor ligand superfamily member 11, soluble form: Secreted (By similarity).
- ALTERNATIVE PRODUCTS:
3 named isoforms [FASTA] produced by alternative splicing.
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| Name | 2 |
| Synonyms | SODF |
| Isoform ID | O14788-2 |
| Features which should be applied to build the isoform sequence: VSP_006447. |
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| Name | 3 |
| Isoform ID | O14788-3 |
| Features which should be applied to build the isoform sequence: VSP_006446. |
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- TISSUE SPECIFICITY: Highest in the peripheral lymph nodes, weak in spleen, peripheral blood Leukocytes, bone marrow, heart, placenta, skeletal muscle, stomach and thyroid.
- INDUCTION: Up-regulated by T-cell receptor stimulation.
- PTM: The soluble form of isoform 1 derives from the membrane form by proteolytic processing (By similarity). The cleavage may be catalyzed by ADAM17.
- DISEASE: Defects in TNFSF11 are the cause of osteopetrosis autosomal recessive type 2 (OPTB2) [MIM:259710]; also known as osteoclast-poor osteopetrosis. Osteopetrosis is a rare genetic disease characterized by abnormally dense bone, due to defective resorption of immature bone. The disorder occurs in two forms: a severe autosomal recessive form occurring in utero, infancy, or childhood, and a benign autosomal dominant form occurring in adolescence or adulthood. Autosomal recessive osteopetrosis is usually associated with normal or elevated amount of non-functional osteoclasts. OPTB2 is characterized by paucity of osteoclasts, suggesting a molecular defect in osteoclast development.
- SIMILARITY: Belongs to the tumor necrosis factor family.
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