Homo sapiens Protein: BMPR1B | |||||||||||||||||||||||||
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Summary | |||||||||||||||||||||||||
InnateDB Protein | IDBP-478513.4 | ||||||||||||||||||||||||
Last Modified | 2014-10-13 [Report errors or provide feedback] | ||||||||||||||||||||||||
Gene Symbol | BMPR1B | ||||||||||||||||||||||||
Protein Name | bone morphogenetic protein receptor, type IB | ||||||||||||||||||||||||
Synonyms | ALK-6; ALK6; CDw293; | ||||||||||||||||||||||||
Species | Homo sapiens | ||||||||||||||||||||||||
Ensembl Protein | ENSP00000425444 | ||||||||||||||||||||||||
InnateDB Gene | IDBG-30667 (BMPR1B) | ||||||||||||||||||||||||
Protein Structure | |||||||||||||||||||||||||
UniProt Annotation | |||||||||||||||||||||||||
Function | On ligand binding, forms a receptor complex consisting of two type II and two type I transmembrane serine/threonine kinases. Type II receptors phosphorylate and activate type I receptors which autophosphorylate, then bind and activate SMAD transcriptional regulators. Receptor for BMP7/OP-1 and GDF5. | ||||||||||||||||||||||||
Subcellular Localization | Membrane; Single-pass type I membrane protein. | ||||||||||||||||||||||||
Disease Associations | Acromesomelic chondrodysplasia, with genital anomalies (AMDGA) [MIM:609441]: A form of chondrodysplasia. Acromesomelic chondrodysplasias are rare hereditary skeletal disorders characterized by short stature, very short limbs and hand/foot malformations. The severity of limb abnormalities increases from proximal to distal with profoundly affected hands and feet showing brachydactyly and/or rudimentary fingers (knob-like fingers). {ECO:0000269PubMed:15805157}. Note=The disease is caused by mutations affecting the gene represented in this entry.Brachydactyly A2 (BDA2) [MIM:112600]: A form of brachydactyly. Brachydactyly defines a group of inherited malformations characterized by shortening of the digits due to abnormal development of the phalanges and/or the metacarpals. In brachydactyly type A2 shortening of the middle phalanges is confined to the index finger and the second toe, all other digits being more or less normal. Because of a rhomboid or triangular shape of the affected middle phalanx, the end of the second finger usually deviates radially. {ECO:0000269PubMed:14523231, ECO:0000269PubMed:16957682}. Note=The disease is caused by mutations affecting the gene represented in this entry. | ||||||||||||||||||||||||
Tissue Specificity | |||||||||||||||||||||||||
Comments | |||||||||||||||||||||||||
Interactions | |||||||||||||||||||||||||
Number of Interactions |
This gene and/or its encoded proteins are associated with 132 experimentally validated interaction(s) in this database.
They are also associated with 2 interaction(s) predicted by orthology.
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Gene Ontology | |||||||||||||||||||||||||
Molecular Function |
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Biological Process |
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Cellular Component |
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Protein Structure and Domains | |||||||||||||||||||||||||
PDB ID | |||||||||||||||||||||||||
InterPro |
IPR000333
Ser/Thr protein kinase, TGFB receptor IPR000472 TGF-beta receptor/activin receptor, type I/II IPR000719 Protein kinase domain IPR001245 Serine-threonine/tyrosine-protein kinase catalytic domain IPR002290 Serine/threonine/dual specificity protein kinase, catalytic domain IPR003605 TGF beta receptor, GS motif IPR011009 Protein kinase-like domain IPR020635 Tyrosine-protein kinase, catalytic domain |
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PFAM |
PF01064
PF00069 PF07714 PF08515 |
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PRINTS |
PR00653
PR00109 |
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PIRSF | |||||||||||||||||||||||||
SMART |
SM00220
SM00467 SM00219 |
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TIGRFAMs | |||||||||||||||||||||||||
Post-translational Modifications | |||||||||||||||||||||||||
Modification | |||||||||||||||||||||||||
Cross-References | |||||||||||||||||||||||||
SwissProt | O00238 | ||||||||||||||||||||||||
PhosphoSite | PhosphoSite-O00238 | ||||||||||||||||||||||||
TrEMBL | D6RGW8 | ||||||||||||||||||||||||
UniProt Splice Variant | |||||||||||||||||||||||||
Entrez Gene | 658 | ||||||||||||||||||||||||
UniGene | Hs.738659 | ||||||||||||||||||||||||
RefSeq | NP_001243721 | ||||||||||||||||||||||||
HUGO | HGNC:1077 | ||||||||||||||||||||||||
OMIM | 603248 | ||||||||||||||||||||||||
CCDS | CCDS3642 | ||||||||||||||||||||||||
HPRD | 04457 | ||||||||||||||||||||||||
IMGT | |||||||||||||||||||||||||
EMBL | AC004061 AC092609 AC093634 AC105395 AK299930 AK313642 BC047773 BC069796 BC069803 CH471057 D89675 U89326 | ||||||||||||||||||||||||
GenPept | AAC28131 AAH47773 AAH69796 AAH69803 BAA19765 BAG36400 BAG61763 EAX06060 | ||||||||||||||||||||||||