|TNR11_HUMAN » Tumor necrosis factor receptor superfamily member 11A » Osteoclast differentiation factor receptor;ODFR; Receptor activator of NF-KB;|
|Hydrophobic Thickness||30.4 ± 2.6 Å|
|Tilt Angle||0 ± 1°|
|Links||UniProtKB, Pfam, Interpro, iHOP, STRING, HGNC|
|TM Segments||210-235 (210-238)|
NF-kappa B signaling pathway (KEGG)
Osteoclast differentiation (KEGG)
Rheumatoid arthritis (KEGG)
|UniProt annotation for TNR11_HUMAN » Tumor necrosis factor receptor superfamily member 11A|
|FUNCTION: Receptor for TNFSF11/RANKL/TRANCE/OPGL; essential for RANKL-mediated osteoclastogenesis. Involved in the regulation of interactions between T-cells and dendritic cells. SUBUNIT: Binds to the clefts between the subunits of the TNFSF11 ligand trimer to form a heterohexamer (By similarity). Interacts with TRAF1, TRAF2, TRAF3, TRAF5 and TRAF6. Interacts (via cytoplasmic domain) with GAB2. TISSUE SPECIFICITY: Ubiquitous expression with high levels in skeletal muscle, thymus, liver, colon, small intestine and adrenal gland. DISEASE: Familial expansile osteolysis (FEO) OMIM: Rare autosomal dominant bone disorder characterized by focal areas of increased bone remodeling. The osteolytic lesions develop usually in the long bones during early adulthood. FEO is often associated with early-onset deafness and loss of dentition. mutations affecting the gene represented in this entry. DISEASE: Paget disease of bone 2 (PDB2) OMIM: Bone- remodeling disorder with clinical similarities to FEO. Unlike FEO, however, affected individuals have involvement of the axial skeleton with lesions in the spine, pelvis and skull. mutations affecting the gene represented in this entry. DISEASE: Osteopetrosis, autosomal recessive 7 (OPTB7) OMIM: A rare genetic disease characterized by abnormally dense bone, due to defective resorption of immature bone. Osteopetrosis 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. Recessive osteopetrosis commonly manifests in early infancy with macrocephaly, feeding difficulties, evolving blindness and deafness, bone marrow failure, severe anemia, and hepatosplenomegaly. Deafness and blindness are generally thought to represent effects of pressure on nerves. OPTB7 is characterized by paucity of osteoclasts, suggesting a molecular defect in osteoclast development. OPTB7 is associated with hypogammaglobulinemia. disease is caused by mutations affecting the gene represented in this entry.|
|UniProt features for TNR11_HUMAN » Tumor necrosis factor receptor superfamily member 11A|
SIGNAL 1 29 Potential. |
CHAIN 30 616 Tumor necrosis factor receptor superfamily member 11A.
REPEAT 34 68 TNFR-Cys 1.
REPEAT 71 112 TNFR-Cys 2.
REPEAT 114 151 TNFR-Cys 3.
REPEAT 154 194 TNFR-Cys 4.
DISULFID 34 46 By similarity.
DISULFID 47 60 By similarity.
DISULFID 50 68 By similarity.
DISULFID 71 86 By similarity.
DISULFID 92 112 By similarity.
DISULFID 114 127 By similarity.
DISULFID 124 126 By similarity.
DISULFID 133 151 By similarity.
DISULFID 154 169 By similarity.
DISULFID 175 194 By similarity.
|Amino Acid Sequence for TNR11_HUMAN » Tumor necrosis factor receptor superfamily member 11A|
|MAPRARRRRP LFALLLLCAL LARLQVALQI APPCTSEKHY EHLGRCCNKC EPGKYMSSKC TTTSDSVCLP CGPDEYLDSW NEEDKCLLHK VCDTGKALVA VVAGNSTTPR RCACTAGYHW SQDCECCRRN TECAPGLGAQ HPLQLNKDTV CKPCLAGYFS DAFSSTDKCR PWTNCTFLGK RVEHHGTEKS DAVCSSSLPA RKPPNEPHVY LPGLIILLLF ASVALVAAII FGVCYRKKGK ALTANLWHWI NEACGRLSGD KESSGDSCVS THTANFGQQG ACEGVLLLTL EEKTFPEDMC YPDQGGVCQG TCVGGGPYAQ GEDARMLSLV SKTEIEEDSF RQMPTEDEYM DRPSQPTDQL LFLTEPGSKS TPPFSEPLEV GENDSLSQCF TGTQSTVGSE SCNCTEPLCR TDWTPMSSEN YLQKEVDSGH CPHWAASPSP NWADVCTGCR NPPGEDCEPL VGSPKRGPLP QCAYGMGLPP EEEASRTEAR DQPEDGADGR LPSSARAGAG SGSSPGGQSP ASGNVTGNSN STFISSGQVM NFKGDIIVVY VSQTSQEGAA AAAEPMGRPV QEETLARRDS FAGNGPRFPD PCGGPEGLRE PEKASRPVQE QGGAKA|