Query author contributions in Reactome
Reactome depends on collaboration between our curation team and outside experts to assemble and peer-review its pathway modules. The integration of ORCID within Reactome enables us to meet a key challenge with authoring, curating and reviewing biological information by incentivizing and crediting the external experts that contribute their expertise and time to the Reactome curation process. More information is available at ORCID and Reactome.
If you have an ORCID ID that is not listed on this page, please forward this information to us and we will update your Reactome pathway records.
Details on Person UniProt:P43026 GDF5
| Class:Id | ReferenceGeneProduct:55528 |
|---|---|
| _chainChangeLog | signal peptide:1-27 added on Sat February 7 2015;propeptide:28-381 added on Sat February 7 2015;chain:382-501 added on Sat February 7 2015 |
| _displayName | UniProt:P43026 GDF5 |
| _timestamp | 2025-02-21 19:07:01 |
| chain | signal peptide:1-27 propeptide:28-381 chain:382-501 |
| checksum | FEBACCFBD7597C37 |
| comment | FUNCTION Growth factor involved in bone and cartilage formation. During cartilage development regulates differentiation of chondrogenic tissue through two pathways. Firstly, positively regulates differentiation of chondrogenic tissue through its binding of high affinity with BMPR1B and of less affinity with BMPR1A, leading to induction of SMAD1-SMAD5-SMAD8 complex phosphorylation and then SMAD protein signaling transduction (PubMed:15530414, PubMed:21976273, PubMed:24098149, PubMed:25092592). Secondly, negatively regulates chondrogenic differentiation through its interaction with NOG (PubMed:21976273). Required to prevent excessive muscle loss upon denervation. This function requires SMAD4 and is mediated by phosphorylated SMAD1/5/8 (By similarity). Binds bacterial lipopolysaccharide (LPS) and mediates LPS-induced inflammatory response, including TNF secretion by monocytes (PubMed:11276205).SUBUNIT Homodimer; disulfide-linked (By similarity). Interacts with serine proteases, HTRA1 and HTRA3 (By similarity). Following LPS binding, may form a complex with CXCR4, HSP90AA1 and HSPA8. Interacts with high affinity with NOG; inhibits chondrogenesis. Interacts with high affinity with BMPR1B and lower affinity with BMPR1A; positively regulates chondrocyte differentiation and induces SMAD dependent signaling. Interacts with FBN1 (via N-terminal domain) and FBN2 (PubMed:18339631). Interacts with TGFBR3 (PubMed:18184661).INTERACTION Predominantly expressed in long bones during embryonic development. Expressed in monocytes (at protein level).DISEASE The disease is caused by variants affecting the gene represented in this entry.DISEASE The disease is caused by variants affecting the gene represented in this entry.DISEASE The disease is caused by variants affecting the gene represented in this entry. Some BDC patients with GDF5 mutations also manifest clinical features of ASPED angel-shaped phalango-epiphyseal dysplasia (ASPED), an autosomal dominant skeletal abnormality characterized by a typical angel-shaped phalanx, brachydactyly, specific radiological findings, abnormal dentition, hip dysplasia, and delayed bone age. This suggests that BDC and ASPED are part of the same clinical spectrum (PubMed:22828468).DISEASE The disease is caused by variants affecting the gene represented in this entry.DISEASE The disease is caused by variants affecting the gene represented in this entry.DISEASE The disease is caused by variants affecting the gene represented in this entry.DISEASE The disease is caused by variants affecting the gene represented in this entry.DISEASE Disease susceptibility is associated with variants affecting the gene represented in this entry.DISEASE The disease is caused by variants affecting the gene represented in this entry.SIMILARITY Belongs to the TGF-beta family.SEQUENCE CAUTION GDF5 entry |
| description | recommendedName: Growth/differentiation factor 5 shortName: GDF-5 alternativeName: Bone morphogenetic protein 14 shortName: BMP-14 alternativeName: Cartilage-derived morphogenetic protein 1 shortName: CDMP-1 alternativeName: Lipopolysaccharide-associated protein 4 shortName: LAP-4 shortName: LPS-associated protein 4 alternativeName: Radotermin |
| geneName | GDF5 BMP14 CDMP1 |
| identifier | P43026 |
| isSequenceChanged | FALSE |
| keyword | 3D-structure Cell membrane Chondrogenesis Cleavage on pair of basic residues Cytokine Disease variant Disulfide bond Dwarfism Glycoprotein Growth factor Membrane Proteomics identification Reference proteome Secreted Signal |
| modified | [InstanceEdit:9836292] Weiser, Joel, 2023-05-25 [InstanceEdit:9852000] Weiser, Joel, 2023-11-03 [InstanceEdit:9917590] Weiser, Joel, 2024-08-09 [InstanceEdit:9926675] Weiser, Joel, 2024-11-03 [InstanceEdit:9939033] Weiser, Joel, 2025-02-21 |
| name | GDF5 |
| referenceDatabase | [ReferenceDatabase:2] UniProt |
| referenceGene | [ReferenceDNASequence:8990716] ENSEMBL:ENSG00000125965 GDF5 [Homo sapiens] |
| secondaryIdentifier | GDF5_HUMAN E1P5Q2 Q96SB1 |
| sequenceLength | 501 |
| species | [Species:48887] Homo sapiens |
| (referenceEntity) | [EntityWithAccessionedSequence:2396129] GDF5(28-501) [extracellular region] [Homo sapiens] |
| [Change default viewing format] | |
No pathways have been reviewed or authored by UniProt:P43026 GDF5 (55528)
