WNT1_HUMAN
ID WNT1_HUMAN Reviewed; 370 AA.
AC P04628; Q5U0N2;
DT 13-AUG-1987, integrated into UniProtKB/Swiss-Prot.
DT 13-AUG-1987, sequence version 1.
DT 03-AUG-2022, entry version 196.
DE RecName: Full=Proto-oncogene Wnt-1;
DE AltName: Full=Proto-oncogene Int-1 homolog;
DE Flags: Precursor;
GN Name=WNT1; Synonyms=INT1;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA].
RX PubMed=2998762;
RA van Ooyen A., Kwee V., Nusse R.;
RT "The nucleotide sequence of the human int-1 mammary oncogene; evolutionary
RT conservation of coding and non-coding sequences.";
RL EMBO J. 4:2905-2909(1985).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RA Kalnine N., Chen X., Rolfs A., Halleck A., Hines L., Eisenstein S.,
RA Koundinya M., Raphael J., Moreira D., Kelley T., LaBaer J., Lin Y.,
RA Phelan M., Farmer A.;
RT "Cloning of human full-length CDSs in BD Creator(TM) system donor vector.";
RL Submitted (OCT-2004) to the EMBL/GenBank/DDBJ databases.
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M.,
RA Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J.,
RA Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S.,
RA Turner R., Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H.,
RA Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K.,
RA Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D.,
RA Hunkapiller M.W., Myers E.W., Venter J.C.;
RL Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases.
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Testis;
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [5]
RP PRELIMINARY CYSTEINE PALMITOYLATION, AND PALMITOLEOYLATION.
RX PubMed=21244856; DOI=10.1016/j.cellsig.2011.01.007;
RA Doubravska L., Krausova M., Gradl D., Vojtechova M., Tumova L., Lukas J.,
RA Valenta T., Pospichalova V., Fafilek B., Plachy J., Sebesta O., Korinek V.;
RT "Fatty acid modification of Wnt1 and Wnt3a at serine is prerequisite for
RT lipidation at cysteine and is essential for Wnt signalling.";
RL Cell. Signal. 23:837-848(2011).
RN [6]
RP FUNCTION, INVOLVEMENT IN BMND16, VARIANTS OI15 CYS-177 AND CYS-298, VARIANT
RP OSTEOP TRP-235, CHARACTERIZATION OF VARIANT OI15 CYS-177, AND
RP CHARACTERIZATION OF VARIANT OSTEOP TRP-235.
RX PubMed=23499309; DOI=10.1016/j.ajhg.2013.02.010;
RA Keupp K., Beleggia F., Kayserili H., Barnes A.M., Steiner M., Semler O.,
RA Fischer B., Yigit G., Janda C.Y., Becker J., Breer S., Altunoglu U.,
RA Gruenhagen J., Krawitz P., Hecht J., Schinke T., Makareeva E., Lausch E.,
RA Cankaya T., Caparros-Martin J.A., Lapunzina P., Temtamy S., Aglan M.,
RA Zabel B., Eysel P., Koerber F., Leikin S., Garcia K.C., Netzer C.,
RA Schoenau E., Ruiz-Perez V.L., Mundlos S., Amling M., Kornak U., Marini J.,
RA Wollnik B.;
RT "Mutations in WNT1 cause different forms of bone fragility.";
RL Am. J. Hum. Genet. 92:565-574(2013).
RN [7]
RP FUNCTION, INTERACTION WITH AFM, AND SUBCELLULAR LOCATION.
RX PubMed=26902720; DOI=10.7554/elife.11621;
RA Mihara E., Hirai H., Yamamoto H., Tamura-Kawakami K., Matano M.,
RA Kikuchi A., Sato T., Takagi J.;
RT "Active and water-soluble form of lipidated Wnt protein is maintained by a
RT serum glycoprotein afamin/alpha-albumin.";
RL Elife 5:0-0(2016).
RN [8]
RP FUNCTION, INVOLVEMENT IN OI15, VARIANTS OI15 ASP-123 AND GLY-153, AND
RP CHARACTERIZATION OF OI15 ASP-123 AND GLY-153.
RX PubMed=28528193; DOI=10.1016/j.ejmg.2017.05.002;
RA Won J.Y., Jang W.Y., Lee H.R., Park S.Y., Kim W.Y., Park J.H., Kim Y.,
RA Cho T.J.;
RT "Novel missense loss-of-function mutations of WNT1 in an autosomal
RT recessive Osteogenesis imperfecta patient.";
RL Eur. J. Med. Genet. 60:411-415(2017).
RN [9]
RP INVOLVEMENT IN OI15, VARIANT OSTEOP GLY-218, FUNCTION, AND CHARACTERIZATION
RP OF VARIANT OSTEOP GLY-218.
RX PubMed=23656646; DOI=10.1056/nejmoa1215458;
RA Laine C.M., Joeng K.S., Campeau P.M., Kiviranta R., Tarkkonen K.,
RA Grover M., Lu J.T., Pekkinen M., Wessman M., Heino T.J.,
RA Nieminen-Pihala V., Aronen M., Laine T., Kroeger H., Cole W.G.,
RA Lehesjoki A.E., Nevarez L., Krakow D., Curry C.J., Cohn D.H., Gibbs R.A.,
RA Lee B.H., Maekitie O.;
RT "WNT1 mutations in early-onset osteoporosis and osteogenesis imperfecta.";
RL N. Engl. J. Med. 368:1809-1816(2013).
RN [10]
RP VARIANT OI15 CYS-298.
RX PubMed=23499310; DOI=10.1016/j.ajhg.2013.02.009;
RA Pyott S.M., Tran T.T., Leistritz D.F., Pepin M.G., Mendelsohn N.J.,
RA Temme R.T., Fernandez B.A., Elsayed S.M., Elsobky E., Verma I., Nair S.,
RA Turner E.H., Smith J.D., Jarvik G.P., Byers P.H.;
RT "WNT1 mutations in families affected by moderately severe and progressive
RT recessive osteogenesis imperfecta.";
RL Am. J. Hum. Genet. 92:590-597(2013).
RN [11]
RP VARIANTS OI15 PHE-143 AND PHE-355.
RX PubMed=23434763; DOI=10.1136/jmedgenet-2013-101567;
RA Fahiminiya S., Majewski J., Mort J., Moffatt P., Glorieux F.H., Rauch F.;
RT "Mutations in WNT1 are a cause of osteogenesis imperfecta.";
RL J. Med. Genet. 50:345-348(2013).
CC -!- FUNCTION: Ligand for members of the frizzled family of seven
CC transmembrane receptors (Probable). Acts in the canonical Wnt signaling
CC pathway by promoting beta-catenin-dependent transcriptional activation
CC (PubMed:23499309, PubMed:26902720, PubMed:28528193, PubMed:23656646).
CC In some developmental processes, is also a ligand for the coreceptor
CC RYK, thus triggering Wnt signaling (By similarity). Plays an essential
CC role in the development of the embryonic brain and central nervous
CC system (CNS) (By similarity). Has a role in osteoblast function, bone
CC development and bone homeostasis (PubMed:23499309, PubMed:23656646).
CC {ECO:0000250|UniProtKB:P04426, ECO:0000269|PubMed:23499309,
CC ECO:0000269|PubMed:23656646, ECO:0000269|PubMed:26902720,
CC ECO:0000269|PubMed:28528193, ECO:0000305}.
CC -!- SUBUNIT: Forms a soluble 1:1 complex with AFM; this prevents
CC oligomerization and is required for prolonged biological activity
CC (PubMed:26902720). The complex with AFM may represent the physiological
CC form in body fluids (PubMed:26902720). Interacts with PORCN. Interacts
CC with RSPO1, RSPO2 and RSPO3 (By similarity). Interacts with WLS (By
CC similarity). {ECO:0000250|UniProtKB:P04426,
CC ECO:0000269|PubMed:26902720}.
CC -!- SUBCELLULAR LOCATION: Secreted, extracellular space, extracellular
CC matrix {ECO:0000305}. Secreted {ECO:0000269|PubMed:26902720}.
CC -!- PTM: Palmitoleoylation is required for efficient binding to frizzled
CC receptors. Palmitoleoylation is necessary for proper trafficking to
CC cell surface (Probable). Depalmitoleoylated by NOTUM, leading to
CC inhibit Wnt signaling pathway (By similarity).
CC {ECO:0000250|UniProtKB:P56704, ECO:0000250|UniProtKB:Q91029,
CC ECO:0000305|PubMed:21244856}.
CC -!- POLYMORPHISM: Genetic variations in WNT1 define the bone mineral
CC density quantitative trait locus 16 (BMND16) [MIM:615221]. Variance in
CC bone mineral density influences bone mass, contributes to size
CC determination in the general population, and is a susceptibility factor
CC for osteoporotic fractures. {ECO:0000269|PubMed:23499309}.
CC -!- DISEASE: Osteoporosis (OSTEOP) [MIM:166710]: A systemic skeletal
CC disorder characterized by decreased bone mass and deterioration of bone
CC microarchitecture without alteration in the composition of bone. The
CC result is fragile bones and an increased risk of fractures, even after
CC minimal trauma. Osteoporosis is a chronic condition of multifactorial
CC etiology and is usually clinically silent until a fracture occurs.
CC {ECO:0000269|PubMed:23499309, ECO:0000269|PubMed:23656646}.
CC Note=Disease susceptibility is associated with variants affecting the
CC gene represented in this entry.
CC -!- DISEASE: Osteogenesis imperfecta 15 (OI15) [MIM:615220]: An autosomal
CC recessive form of osteogenesis imperfecta, a connective tissue disorder
CC characterized by low bone mass, bone fragility and susceptibility to
CC fractures after minimal trauma. Disease severity ranges from very mild
CC forms without fractures to intrauterine fractures and perinatal
CC lethality. Extraskeletal manifestations, which affect a variable number
CC of patients, are dentinogenesis imperfecta, hearing loss, and blue
CC sclerae. OI15 is characterized by early-onset recurrent fractures, bone
CC deformity, significant reduction of bone density, short stature, and,
CC in some patients, blue sclerae. Tooth development and hearing are
CC normal. Learning and developmental delays and brain anomalies have been
CC observed in some patients. {ECO:0000269|PubMed:23434763,
CC ECO:0000269|PubMed:23499309, ECO:0000269|PubMed:23499310,
CC ECO:0000269|PubMed:23656646, ECO:0000269|PubMed:28528193}. Note=The
CC disease is caused by variants affecting the gene represented in this
CC entry.
CC -!- SIMILARITY: Belongs to the Wnt family. {ECO:0000305}.
CC -!- CAUTION: A palmitoylation site was proposed at Cys-93, but it was later
CC shown that this cysteine is engaged in a disulfide bond.
CC {ECO:0000269|PubMed:21244856}.
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DR EMBL; X03072; CAA26874.1; -; Genomic_DNA.
DR EMBL; BT019429; AAV38236.1; -; mRNA.
DR EMBL; CH471111; EAW58030.1; -; Genomic_DNA.
DR EMBL; BC074798; AAH74798.1; -; mRNA.
DR EMBL; BC074799; AAH74799.1; -; mRNA.
DR CCDS; CCDS8776.1; -.
DR PIR; A24674; TVHUT1.
DR RefSeq; NP_005421.1; NM_005430.3.
DR AlphaFoldDB; P04628; -.
DR SMR; P04628; -.
DR BioGRID; 113308; 68.
DR IntAct; P04628; 3.
DR STRING; 9606.ENSP00000293549; -.
DR BindingDB; P04628; -.
DR GlyGen; P04628; 4 sites.
DR iPTMnet; P04628; -.
DR PhosphoSitePlus; P04628; -.
DR SwissPalm; P04628; -.
DR BioMuta; WNT1; -.
DR DMDM; 139743; -.
DR jPOST; P04628; -.
DR MassIVE; P04628; -.
DR PaxDb; P04628; -.
DR PeptideAtlas; P04628; -.
DR PRIDE; P04628; -.
DR ProteomicsDB; 51722; -.
DR Antibodypedia; 13738; 563 antibodies from 40 providers.
DR DNASU; 7471; -.
DR Ensembl; ENST00000293549.4; ENSP00000293549.3; ENSG00000125084.13.
DR GeneID; 7471; -.
DR KEGG; hsa:7471; -.
DR MANE-Select; ENST00000293549.4; ENSP00000293549.3; NM_005430.4; NP_005421.1.
DR UCSC; uc001rsu.4; human.
DR CTD; 7471; -.
DR DisGeNET; 7471; -.
DR GeneCards; WNT1; -.
DR HGNC; HGNC:12774; WNT1.
DR HPA; ENSG00000125084; Tissue enhanced (brain).
DR MalaCards; WNT1; -.
DR MIM; 164820; gene.
DR MIM; 166710; phenotype.
DR MIM; 615220; phenotype.
DR MIM; 615221; phenotype.
DR neXtProt; NX_P04628; -.
DR OpenTargets; ENSG00000125084; -.
DR Orphanet; 85193; Idiopathic juvenile osteoporosis.
DR Orphanet; 216812; Osteogenesis imperfecta type 3.
DR Orphanet; 216820; Osteogenesis imperfecta type 4.
DR PharmGKB; PA37376; -.
DR VEuPathDB; HostDB:ENSG00000125084; -.
DR eggNOG; KOG3913; Eukaryota.
DR GeneTree; ENSGT00940000160329; -.
DR InParanoid; P04628; -.
DR OMA; NDHMPDI; -.
DR OrthoDB; 624528at2759; -.
DR PhylomeDB; P04628; -.
DR TreeFam; TF105310; -.
DR PathwayCommons; P04628; -.
DR Reactome; R-HSA-201681; TCF dependent signaling in response to WNT.
DR Reactome; R-HSA-3238698; WNT ligand biogenesis and trafficking.
DR Reactome; R-HSA-373080; Class B/2 (Secretin family receptors).
DR Reactome; R-HSA-381340; Transcriptional regulation of white adipocyte differentiation.
DR Reactome; R-HSA-4086400; PCP/CE pathway.
DR Reactome; R-HSA-4641262; Disassembly of the destruction complex and recruitment of AXIN to the membrane.
DR SignaLink; P04628; -.
DR SIGNOR; P04628; -.
DR BioGRID-ORCS; 7471; 13 hits in 1068 CRISPR screens.
DR GeneWiki; WNT1; -.
DR GenomeRNAi; 7471; -.
DR Pharos; P04628; Tbio.
DR PRO; PR:P04628; -.
DR Proteomes; UP000005640; Chromosome 12.
DR RNAct; P04628; protein.
DR Bgee; ENSG00000125084; Expressed in granulocyte and 58 other tissues.
DR ExpressionAtlas; P04628; baseline and differential.
DR Genevisible; P04628; HS.
DR GO; GO:0009986; C:cell surface; IEA:Ensembl.
DR GO; GO:0005737; C:cytoplasm; IDA:UniProtKB.
DR GO; GO:0030666; C:endocytic vesicle membrane; TAS:Reactome.
DR GO; GO:0005788; C:endoplasmic reticulum lumen; TAS:Reactome.
DR GO; GO:0070062; C:extracellular exosome; TAS:Reactome.
DR GO; GO:0005576; C:extracellular region; TAS:Reactome.
DR GO; GO:0005615; C:extracellular space; IBA:GO_Central.
DR GO; GO:0005796; C:Golgi lumen; TAS:Reactome.
DR GO; GO:0005886; C:plasma membrane; TAS:Reactome.
DR GO; GO:0005125; F:cytokine activity; ISS:BHF-UCL.
DR GO; GO:0005109; F:frizzled binding; IBA:GO_Central.
DR GO; GO:0016015; F:morphogen activity; TAS:ParkinsonsUK-UCL.
DR GO; GO:0019904; F:protein domain specific binding; IEA:Ensembl.
DR GO; GO:0048018; F:receptor ligand activity; IDA:WormBase.
DR GO; GO:0031100; P:animal organ regeneration; IEA:Ensembl.
DR GO; GO:0036520; P:astrocyte-dopaminergic neuron signaling; IEA:Ensembl.
DR GO; GO:0060348; P:bone development; IMP:UniProtKB.
DR GO; GO:0001658; P:branching involved in ureteric bud morphogenesis; IEA:Ensembl.
DR GO; GO:0060070; P:canonical Wnt signaling pathway; IDA:BHF-UCL.
DR GO; GO:1904954; P:canonical Wnt signaling pathway involved in midbrain dopaminergic neuron differentiation; TAS:ParkinsonsUK-UCL.
DR GO; GO:0045165; P:cell fate commitment; IBA:GO_Central.
DR GO; GO:0033278; P:cell proliferation in midbrain; IEA:Ensembl.
DR GO; GO:0007267; P:cell-cell signaling; ISS:BHF-UCL.
DR GO; GO:0071375; P:cellular response to peptide hormone stimulus; IEA:Ensembl.
DR GO; GO:0021551; P:central nervous system morphogenesis; ISS:BHF-UCL.
DR GO; GO:0021588; P:cerebellum formation; ISS:BHF-UCL.
DR GO; GO:0021536; P:diencephalon development; IEA:Ensembl.
DR GO; GO:0000578; P:embryonic axis specification; ISS:BHF-UCL.
DR GO; GO:1990403; P:embryonic brain development; IEA:Ensembl.
DR GO; GO:0045444; P:fat cell differentiation; IEA:Ensembl.
DR GO; GO:0021797; P:forebrain anterior/posterior pattern specification; IEA:Ensembl.
DR GO; GO:0071425; P:hematopoietic stem cell proliferation; IEA:Ensembl.
DR GO; GO:0070365; P:hepatocyte differentiation; IEA:Ensembl.
DR GO; GO:0042472; P:inner ear morphogenesis; IEA:Ensembl.
DR GO; GO:0030901; P:midbrain development; ISS:BHF-UCL.
DR GO; GO:0022004; P:midbrain-hindbrain boundary maturation during brain development; IEA:Ensembl.
DR GO; GO:0007520; P:myoblast fusion; IEA:Ensembl.
DR GO; GO:0043066; P:negative regulation of apoptotic process; IMP:BHF-UCL.
DR GO; GO:0030514; P:negative regulation of BMP signaling pathway; IMP:AgBase.
DR GO; GO:0022408; P:negative regulation of cell-cell adhesion; IMP:BHF-UCL.
DR GO; GO:0010812; P:negative regulation of cell-substrate adhesion; IDA:BHF-UCL.
DR GO; GO:2000773; P:negative regulation of cellular senescence; IDA:BHF-UCL.
DR GO; GO:0045599; P:negative regulation of fat cell differentiation; ISS:BHF-UCL.
DR GO; GO:1903204; P:negative regulation of oxidative stress-induced neuron death; IEA:Ensembl.
DR GO; GO:0030512; P:negative regulation of transforming growth factor beta receptor signaling pathway; IEA:Ensembl.
DR GO; GO:2000059; P:negative regulation of ubiquitin-dependent protein catabolic process; IEA:Ensembl.
DR GO; GO:0030182; P:neuron differentiation; IBA:GO_Central.
DR GO; GO:0048664; P:neuron fate determination; IEA:Ensembl.
DR GO; GO:0008284; P:positive regulation of cell population proliferation; IDA:BHF-UCL.
DR GO; GO:0061184; P:positive regulation of dermatome development; IDA:BHF-UCL.
DR GO; GO:0051091; P:positive regulation of DNA-binding transcription factor activity; ISS:BHF-UCL.
DR GO; GO:0048146; P:positive regulation of fibroblast proliferation; IMP:BHF-UCL.
DR GO; GO:1902035; P:positive regulation of hematopoietic stem cell proliferation; IEA:Ensembl.
DR GO; GO:0043568; P:positive regulation of insulin-like growth factor receptor signaling pathway; IDA:BHF-UCL.
DR GO; GO:0010592; P:positive regulation of lamellipodium assembly; IMP:BHF-UCL.
DR GO; GO:0045747; P:positive regulation of Notch signaling pathway; IDA:BHF-UCL.
DR GO; GO:0001934; P:positive regulation of protein phosphorylation; IEA:Ensembl.
DR GO; GO:0045944; P:positive regulation of transcription by RNA polymerase II; IEA:Ensembl.
DR GO; GO:0045893; P:positive regulation of transcription, DNA-templated; IDA:BHF-UCL.
DR GO; GO:0009611; P:response to wounding; IEP:UniProtKB.
DR GO; GO:0042770; P:signal transduction in response to DNA damage; IDA:BHF-UCL.
DR GO; GO:0060061; P:Spemann organizer formation; ISS:BHF-UCL.
DR GO; GO:0021527; P:spinal cord association neuron differentiation; IEA:Ensembl.
DR GO; GO:0033077; P:T cell differentiation in thymus; IEA:Ensembl.
DR GO; GO:0030579; P:ubiquitin-dependent SMAD protein catabolic process; IEA:Ensembl.
DR GO; GO:1904953; P:Wnt signaling pathway involved in midbrain dopaminergic neuron differentiation; TAS:ParkinsonsUK-UCL.
DR Gene3D; 3.30.2460.20; -; 1.
DR InterPro; IPR005817; Wnt.
DR InterPro; IPR009139; Wnt1.
DR InterPro; IPR043158; Wnt_C.
DR InterPro; IPR018161; Wnt_CS.
DR PANTHER; PTHR12027; PTHR12027; 1.
DR Pfam; PF00110; wnt; 1.
DR PRINTS; PR01841; WNT1PROTEIN.
DR PRINTS; PR01349; WNTPROTEIN.
DR SMART; SM00097; WNT1; 1.
DR PROSITE; PS00246; WNT1; 1.
PE 1: Evidence at protein level;
KW Developmental protein; Disease variant; Disulfide bond;
KW Extracellular matrix; Glycoprotein; Lipoprotein; Osteogenesis imperfecta;
KW Proto-oncogene; Reference proteome; Secreted; Signal;
KW Wnt signaling pathway.
FT SIGNAL 1..27
FT /evidence="ECO:0000255"
FT CHAIN 28..370
FT /note="Proto-oncogene Wnt-1"
FT /id="PRO_0000041405"
FT LIPID 224
FT /note="O-palmitoleoyl serine; by PORCN"
FT /evidence="ECO:0000250|UniProtKB:Q91029"
FT CARBOHYD 29
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 316
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 346
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 359
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT DISULFID 93..104
FT /evidence="ECO:0000250|UniProtKB:P28026"
FT DISULFID 143..151
FT /evidence="ECO:0000250|UniProtKB:P28026"
FT DISULFID 153..170
FT /evidence="ECO:0000250|UniProtKB:P28026"
FT DISULFID 218..232
FT /evidence="ECO:0000250|UniProtKB:P28026"
FT DISULFID 220..227
FT /evidence="ECO:0000250|UniProtKB:P28026"
FT DISULFID 299..330
FT /evidence="ECO:0000250|UniProtKB:P28026"
FT DISULFID 315..325
FT /evidence="ECO:0000250|UniProtKB:P28026"
FT DISULFID 329..369
FT /evidence="ECO:0000250|UniProtKB:P28026"
FT DISULFID 345..360
FT /evidence="ECO:0000250|UniProtKB:P28026"
FT DISULFID 347..357
FT /evidence="ECO:0000250|UniProtKB:P28026"
FT DISULFID 352..353
FT /evidence="ECO:0000250|UniProtKB:P28026"
FT VARIANT 123
FT /note="E -> D (in OI15; reduced capacity to activate
FT canonical Wnt signaling)"
FT /evidence="ECO:0000269|PubMed:28528193"
FT /id="VAR_079407"
FT VARIANT 143
FT /note="C -> F (in OI15)"
FT /evidence="ECO:0000269|PubMed:23434763"
FT /id="VAR_069627"
FT VARIANT 153
FT /note="C -> G (in OI15; reduced capacity to activate
FT canonical Wnt signaling)"
FT /evidence="ECO:0000269|PubMed:28528193"
FT /id="VAR_079408"
FT VARIANT 177
FT /note="G -> C (in OI15; completely fails to activate the
FT Wnt-regulated beta-catenin signaling cascade)"
FT /evidence="ECO:0000269|PubMed:23499309"
FT /id="VAR_069628"
FT VARIANT 218
FT /note="C -> G (in OSTEOP; reduced capacity to activate
FT canonical Wnt signaling; dbSNP:rs397514702)"
FT /evidence="ECO:0000269|PubMed:23656646"
FT /id="VAR_069629"
FT VARIANT 235
FT /note="R -> W (in OSTEOP; associated with susceptibility to
FT early-onset osteoporosis; completely fails to activate the
FT Wnt-regulated beta-catenin signaling cascade;
FT dbSNP:rs387907359)"
FT /evidence="ECO:0000269|PubMed:23499309"
FT /id="VAR_069630"
FT VARIANT 298
FT /note="F -> C (in OI15)"
FT /evidence="ECO:0000269|PubMed:23499309,
FT ECO:0000269|PubMed:23499310"
FT /id="VAR_069631"
FT VARIANT 355
FT /note="V -> F (in OI15; dbSNP:rs387907358)"
FT /evidence="ECO:0000269|PubMed:23434763"
FT /id="VAR_069632"
SQ SEQUENCE 370 AA; 40982 MW; F7E8111DA12E173F CRC64;
MGLWALLPGW VSATLLLALA ALPAALAANS SGRWWGIVNV ASSTNLLTDS KSLQLVLEPS
LQLLSRKQRR LIRQNPGILH SVSGGLQSAV RECKWQFRNR RWNCPTAPGP HLFGKIVNRG
CRETAFIFAI TSAGVTHSVA RSCSEGSIES CTCDYRRRGP GGPDWHWGGC SDNIDFGRLF
GREFVDSGEK GRDLRFLMNL HNNEAGRTTV FSEMRQECKC HGMSGSCTVR TCWMRLPTLR
AVGDVLRDRF DGASRVLYGN RGSNRASRAE LLRLEPEDPA HKPPSPHDLV YFEKSPNFCT
YSGRLGTAGT AGRACNSSSP ALDGCELLCC GRGHRTRTQR VTERCNCTFH WCCHVSCRNC
THTRVLHECL
