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Details on Person UniProt:P04628 WNT1
| Class:Id | ReferenceGeneProduct:67376 |
|---|---|
| _chainChangeLog | signal peptide:1-27 added on Fri February 6 2015;chain:28-370 added on Fri February 6 2015 |
| _displayName | UniProt:P04628 WNT1 |
| _timestamp | 2024-11-03 20:22:15 |
| chain | signal peptide:1-27 chain:28-370 |
| checksum | F7E8111DA12E173F |
| comment | FUNCTION Ligand for members of the frizzled family of seven transmembrane receptors (Probable). Acts in the canonical Wnt signaling pathway by promoting beta-catenin-dependent transcriptional activation (PubMed:23499309, PubMed:23656646, PubMed:26902720, PubMed:28528193). In some developmental processes, is also a ligand for the coreceptor RYK, thus triggering Wnt signaling (By similarity). Plays an essential role in the development of the embryonic brain and central nervous system (CNS) (By similarity). Has a role in osteoblast function, bone development and bone homeostasis (PubMed:23499309, PubMed:23656646).SUBUNIT Forms a soluble 1:1 complex with AFM; this prevents oligomerization and is required for prolonged biological activity (PubMed:26902720). The complex with AFM may represent the physiological form in body fluids (PubMed:26902720). Interacts with PORCN. Interacts with RSPO1, RSPO2 and RSPO3 (By similarity). Interacts with WLS (By similarity).SUBCELLULAR LOCATION Palmitoleoylation is required for efficient binding to frizzled receptors. Palmitoleoylation is necessary for proper trafficking to cell surface (Probable). Depalmitoleoylated by NOTUM, leading to inhibit Wnt signaling pathway (By similarity).POLYMORPHISM Genetic variations in WNT1 define the bone mineral density quantitative trait locus 16 (BMND16) [MIM:615221]. Variance in bone mineral density influences bone mass, contributes to size determination in the general population, and is a susceptibility factor for osteoporotic fractures.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 Wnt family.CAUTION A palmitoylation site was proposed at Cys-93, but it was later shown that this cysteine is engaged in a disulfide bond. |
| description | recommendedName: Proto-oncogene Wnt-1 alternativeName: Proto-oncogene Int-1 homolog |
| geneName | WNT1 INT1 |
| identifier | P04628 |
| isSequenceChanged | FALSE |
| keyword | Developmental protein Disease variant Disulfide bond Extracellular matrix Glycoprotein Lipoprotein Osteogenesis imperfecta Osteoporosis Proteomics identification Proto-oncogene Reference proteome Secreted Signal Wnt signaling pathway |
| 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 |
| name | WNT1 |
| referenceDatabase | [ReferenceDatabase:2] UniProt |
| referenceGene | [ReferenceDNASequence:8989908] ENSEMBL:ENSG00000125084 WNT1 [Homo sapiens] |
| secondaryIdentifier | WNT1_HUMAN Q5U0N2 |
| sequenceLength | 370 |
| species | [Species:48887] Homo sapiens |
| (referenceEntity) | [EntityWithAccessionedSequence:201702] WNT1 [extracellular region] [Homo sapiens] [EntityWithAccessionedSequence:3238214] N4GlycoAsn-WNT1 [endoplasmic reticulum lumen] [Homo sapiens] [EntityWithAccessionedSequence:3238271] WNT1 [endoplasmic reticulum lumen] [Homo sapiens] [EntityWithAccessionedSequence:3238370] N4GlycoAsn-PalmS WNT1 [endoplasmic reticulum lumen] [Homo sapiens] [EntityWithAccessionedSequence:3247789] N4GlycoAsn-PalmS WNT1 [plasma membrane] [Homo sapiens] [EntityWithAccessionedSequence:3247804] N4GlycoAsn-PalmS WNT1 [extracellular region] [Homo sapiens] [EntityWithAccessionedSequence:3247808] N4GlycoAsn-PalmS WNT1 [Golgi lumen] [Homo sapiens] [EntityWithAccessionedSequence:3781952] N4GlycoAsn-PalmS WNT1 [endocytic vesicle membrane] [Homo sapiens] [EntityWithAccessionedSequence:3781965] N4GlycoAsn-PalmS WNT1 [extracellular exosome] [Homo sapiens] |
| (referenceSequence) | [ModifiedResidue:3238150] N4-glycosyl-L-asparagine at unknown position [ModifiedResidue:3238193] O-palmitoleyl-L-serine at 224 |
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No pathways have been reviewed or authored by UniProt:P04628 WNT1 (67376)
