P04628 · WNT1_HUMAN
- ProteinProto-oncogene Wnt-1
- GeneWNT1
- StatusUniProtKB reviewed (Swiss-Prot)
- Organism
- Amino acids370 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score5/5
Function
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).
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).
GO annotations
all annotations | all molecular function | virus receptor activity | dna binding | rna binding | cytoskeletal motor activity | catalytic activity | gtpase activity | structural molecule activity | transporter activity | cytoskeletal protein binding | lipid binding | cyclase activity | antioxidant activity | oxidoreductase activity | transferase activity | hydrolase activity | lyase activity | isomerase activity | ligase activity | protein tag activity | cargo receptor activity | histone binding | protein folding chaperone | translation regulator activity | nutrient reservoir activity | receptor ligand activity | molecular transducer activity | molecular adaptor activity | toxin activity | cell adhesion mediator activity | molecular function regulator activity | virus coreceptor activity | catalytic activity, acting on a protein | catalytic activity, acting on dna | catalytic activity, acting on rna | molecular carrier activity | transcription regulator activity | general transcription initiation factor activity | molecular sensor activity | molecular sequestering activity | atp-dependent activity | other molecular function | all biological process | mitotic cell cycle | cytokinesis | cytoplasmic translation | immune system process | muscle system process | circulatory system process | renal system process | respiratory system process | carbohydrate metabolic process | generation of precursor metabolites and energy | dna replication | dna repair | dna recombination | chromatin organization | dna-templated transcription | regulation of dna-templated transcription | trna metabolic process | protein folding | protein glycosylation | amino acid metabolic process | modified amino acid metabolic process | lipid metabolic process | vitamin metabolic process | sulfur compound metabolic process | intracellular protein transport | nucleocytoplasmic transport | autophagy | inflammatory response | mitochondrion organization | cytoskeleton organization | microtubule-based movement | peroxisome organization | lysosome organization | chromosome segregation | cell adhesion | establishment or maintenance of cell polarity | programmed cell death | photosynthesis | mrna metabolic process | snrna metabolic process | vesicle-mediated transport | reproductive process | digestive system process | signaling | cell differentiation | protein catabolic process | extracellular matrix organization | regulatory ncrna-mediated gene silencing | telomere organization | cell junction organization | wound healing | ribosome biogenesis | cilium organization | anatomical structure development | cell motility | nervous system process | endocrine process | protein maturation | transmembrane transport | nucleobase-containing small molecule metabolic process | hepaticobiliary system process | membrane organization | protein-containing complex assembly | cell wall organization or biogenesis | nitrogen cycle metabolic process | protein localization to plasma membrane | defense response to other organism | detoxification | meiotic nuclear division | mitotic nuclear division | mitochondrial gene expression | carbohydrate derivative metabolic process | other biological process | all cellular component | nuclear chromosome | extracellular region | extracellular space | cell wall | nucleus | nuclear envelope | nucleoplasm | chromosome | nucleolus | mitochondrion | lysosome | endosome | vacuole | peroxisome | endoplasmic reticulum | golgi apparatus | lipid droplet | microtubule organizing center | cytosol | ribosome | cytoskeleton | plasma membrane | cilium | plastid | thylakoid | external encapsulating structure | extracellular matrix | cytoplasmic vesicle | organelle | other cellular component | |||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Keywords
- Molecular function
- Biological process
Enzyme and pathway databases
Names & Taxonomy
Protein names
- Recommended nameProto-oncogene Wnt-1
- Alternative names
Gene names
Organism names
- Organism
- Taxonomic lineageEukaryota > Metazoa > Chordata > Craniata > Vertebrata > Euteleostomi > Mammalia > Eutheria > Euarchontoglires > Primates > Haplorrhini > Catarrhini > Hominidae > Homo
Accessions
- Primary accessionP04628
- Secondary accessions
Proteomes
Organism-specific databases
Subcellular Location
UniProt Annotation
GO Annotation
Keywords
- Cellular component
Disease & Variants
Involvement in disease
Osteoporosis (OSTEOP)
- Note
- DescriptionA systemic skeletal disorder characterized by decreased bone mass and deterioration of bone microarchitecture without alteration in the composition of bone. The result is fragile bones and an increased risk of fractures, even after minimal trauma. Osteoporosis is a chronic condition of multifactorial etiology and is usually clinically silent until a fracture occurs.
- See alsoMIM:166710
Natural variants in OSTEOP
Variant ID | Position(s) | Change | Description | |
---|---|---|---|---|
VAR_069629 | 218 | C>G | in OSTEOP; reduced capacity to activate canonical Wnt signaling; dbSNP:rs397514702 | |
VAR_069630 | 235 | R>W | in OSTEOP; completely fails to activate the Wnt-regulated beta-catenin signaling cascade; dbSNP:rs387907359 |
Osteogenesis imperfecta 15 (OI15)
- Note
- DescriptionAn autosomal recessive form of osteogenesis imperfecta, a disorder of bone formation characterized by low bone mass, bone fragility and susceptibility to fractures after minimal trauma. Disease severity ranges from very mild forms without fractures to intrauterine fractures and perinatal lethality. Extraskeletal manifestations, which affect a variable number of patients, are dentinogenesis imperfecta, hearing loss, and blue sclerae. OI15 is characterized by early-onset recurrent fractures, bone deformity, significant reduction of bone density, short stature, and, in some patients, blue sclerae. Tooth development and hearing are normal. Learning and developmental delays and brain anomalies have been observed in some patients.
- See alsoMIM:615220
Natural variants in OI15
Variant ID | Position(s) | Change | Description | |
---|---|---|---|---|
VAR_079407 | 123 | E>D | in OI15; reduced capacity to activate canonical Wnt signaling | |
VAR_069627 | 143 | C>F | in OI15 | |
VAR_079408 | 153 | C>G | in OI15; reduced capacity to activate canonical Wnt signaling | |
VAR_069628 | 177 | G>C | in OI15; completely fails to activate the Wnt-regulated beta-catenin signaling cascade | |
VAR_069631 | 298 | F>C | in OI15; dbSNP:rs2137625459 | |
VAR_069632 | 355 | V>F | in OI15; dbSNP:rs387907358 |
Features
Showing features for natural variant.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Natural variant | VAR_079407 | 123 | in OI15; reduced capacity to activate canonical Wnt signaling | |||
Sequence: E → D | ||||||
Natural variant | VAR_069627 | 143 | in OI15 | |||
Sequence: C → F | ||||||
Natural variant | VAR_079408 | 153 | in OI15; reduced capacity to activate canonical Wnt signaling | |||
Sequence: C → G | ||||||
Natural variant | VAR_069628 | 177 | in OI15; completely fails to activate the Wnt-regulated beta-catenin signaling cascade | |||
Sequence: G → C | ||||||
Natural variant | VAR_069629 | 218 | in OSTEOP; reduced capacity to activate canonical Wnt signaling; dbSNP:rs397514702 | |||
Sequence: C → G | ||||||
Natural variant | VAR_069630 | 235 | in OSTEOP; completely fails to activate the Wnt-regulated beta-catenin signaling cascade; dbSNP:rs387907359 | |||
Sequence: R → W | ||||||
Natural variant | VAR_069631 | 298 | in OI15; dbSNP:rs2137625459 | |||
Sequence: F → C | ||||||
Natural variant | VAR_069632 | 355 | in OI15; dbSNP:rs387907358 | |||
Sequence: V → F |
Variants
We now provide the "Disease & Variants" viewer in its own tab.
The viewer provides 473 variants from UniProt as well as other sources including ClinVar and dbSNP.
Keywords
- Disease
Organism-specific databases
Miscellaneous
Genetic variation databases
PTM/Processing
Features
Showing features for signal, chain, glycosylation, disulfide bond, lipidation.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Signal | 1-27 | |||||
Sequence: MGLWALLPGWVSATLLLALAALPAALA | ||||||
Chain | PRO_0000041405 | 28-370 | Proto-oncogene Wnt-1 | |||
Sequence: ANSSGRWWGIVNVASSTNLLTDSKSLQLVLEPSLQLLSRKQRRLIRQNPGILHSVSGGLQSAVRECKWQFRNRRWNCPTAPGPHLFGKIVNRGCRETAFIFAITSAGVTHSVARSCSEGSIESCTCDYRRRGPGGPDWHWGGCSDNIDFGRLFGREFVDSGEKGRDLRFLMNLHNNEAGRTTVFSEMRQECKCHGMSGSCTVRTCWMRLPTLRAVGDVLRDRFDGASRVLYGNRGSNRASRAELLRLEPEDPAHKPPSPHDLVYFEKSPNFCTYSGRLGTAGTAGRACNSSSPALDGCELLCCGRGHRTRTQRVTERCNCTFHWCCHVSCRNCTHTRVLHECL | ||||||
Glycosylation | 29 | N-linked (GlcNAc...) asparagine | ||||
Sequence: N | ||||||
Disulfide bond | 93↔104 | |||||
Sequence: CKWQFRNRRWNC | ||||||
Disulfide bond | 143↔151 | |||||
Sequence: CSEGSIESC | ||||||
Disulfide bond | 153↔170 | |||||
Sequence: CDYRRRGPGGPDWHWGGC | ||||||
Disulfide bond | 218↔232 | |||||
Sequence: CKCHGMSGSCTVRTC | ||||||
Disulfide bond | 220↔227 | |||||
Sequence: CHGMSGSC | ||||||
Lipidation | 224 | O-palmitoleoyl serine; by PORCN | ||||
Sequence: S | ||||||
Disulfide bond | 299↔330 | |||||
Sequence: CTYSGRLGTAGTAGRACNSSSPALDGCELLCC | ||||||
Disulfide bond | 315↔325 | |||||
Sequence: CNSSSPALDGC | ||||||
Glycosylation | 316 | N-linked (GlcNAc...) asparagine | ||||
Sequence: N | ||||||
Disulfide bond | 329↔369 | |||||
Sequence: CCGRGHRTRTQRVTERCNCTFHWCCHVSCRNCTHTRVLHEC | ||||||
Disulfide bond | 345↔360 | |||||
Sequence: CNCTFHWCCHVSCRNC | ||||||
Glycosylation | 346 | N-linked (GlcNAc...) asparagine | ||||
Sequence: N | ||||||
Disulfide bond | 347↔357 | |||||
Sequence: CTFHWCCHVSC | ||||||
Disulfide bond | 352↔353 | |||||
Sequence: CC | ||||||
Glycosylation | 359 | N-linked (GlcNAc...) asparagine | ||||
Sequence: N |
Post-translational modification
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).
Keywords
- PTM
Proteomic databases
PTM databases
Expression
Interaction
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).
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).
Protein-protein interaction databases
Chemistry
Miscellaneous
Structure
Sequence
- Sequence statusComplete
- Sequence processingThe displayed sequence is further processed into a mature form.
- Length370
- Mass (Da)40,982
- Last updated1987-08-13 v1
- ChecksumF7E8111DA12E173F
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.
Keywords
- Technical term
Sequence databases
Nucleotide Sequence | Protein Sequence | Molecule Type | Status | |
---|---|---|---|---|
X03072 EMBL· GenBank· DDBJ | CAA26874.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
BT019429 EMBL· GenBank· DDBJ | AAV38236.1 EMBL· GenBank· DDBJ | mRNA | ||
CH471111 EMBL· GenBank· DDBJ | EAW58030.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
BC074798 EMBL· GenBank· DDBJ | AAH74798.1 EMBL· GenBank· DDBJ | mRNA | ||
BC074799 EMBL· GenBank· DDBJ | AAH74799.1 EMBL· GenBank· DDBJ | mRNA |