ID WNT3_HUMAN Reviewed; 355 AA. AC P56703; Q2M237; Q9H1J9; DT 15-JUL-1999, integrated into UniProtKB/Swiss-Prot. DT 20-JUN-2001, sequence version 2. DT 25-JAN-2012, entry version 96. DE RecName: Full=Proto-oncogene Wnt-3; DE AltName: Full=Proto-oncogene Int-4 homolog; DE Flags: Precursor; GN Name=WNT3; Synonyms=INT4; OS Homo sapiens (Human). OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; OC Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; OC Catarrhini; Hominidae; Homo. OX NCBI_TaxID=9606; RN [1] RP NUCLEOTIDE SEQUENCE [MRNA]. RA Testa T.T., Mossakowska D.E., Carter P.S., Hu E., Zhu Y., RA Kelsell D.P., Murdock P.R., Herrity N.C., Lewis C.J., Cross D.A., RA Culbert A.A., Reith A.D., Barnes M.R.; RT "Molecular cloning and characterization of six novel human WNT RT genes."; RL Submitted (AUG-2000) to the EMBL/GenBank/DDBJ databases. RN [2] RP NUCLEOTIDE SEQUENCE [MRNA]. RX MEDLINE=21490205; PubMed=11604997; RA Katoh M.; RT "Molecular cloning and characterization of human WNT3."; RL Int. J. Oncol. 19:977-982(2001). RN [3] RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]. 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 RT project: the Mammalian Gene Collection (MGC)."; RL Genome Res. 14:2121-2127(2004). RN [4] RP NUCLEOTIDE SEQUENCE [MRNA] OF 1-333. RX MEDLINE=94063935; PubMed=8244403; DOI=10.1006/geno.1993.1412; RA Roelink H., Wang J., Black D.M., Solomon E., Nusse R.; RT "Molecular cloning and chromosomal localization to 17q21 of the human RT WNT3 gene."; RL Genomics 17:790-792(1993). RN [5] RP INVOLVEMENT IN ARTTRA. RX PubMed=14872406; DOI=10.1086/382196; RA Niemann S., Zhao C., Pascu F., Stahl U., Aulepp U., Niswander L., RA Weber J.L., Mueller U.; RT "Homozygous WNT3 mutation causes tetra-amelia in a large RT consanguineous family."; RL Am. J. Hum. Genet. 74:558-563(2004). CC -!- FUNCTION: Ligand for members of the frizzled family of seven CC transmembrane receptors. Wnt-3 and Wnt-3a play distinct roles in CC cell-cell signaling during morphogenesis of the developing neural CC tube (By similarity). CC -!- SUBUNIT: Interacts with PORCN (By similarity). Interacts with WLS CC (By similarity). CC -!- SUBCELLULAR LOCATION: Secreted, extracellular space, extracellular CC matrix. CC -!- DISEASE: Defects in WNT3 are the cause of autosomal recessive CC tetra-amelia (ARTTRA) [MIM:273395]. Tetra-amelia is a rare human CC genetic disorder characterized by complete absence of all four CC limbs and other anomalies such as craniofacial, nervous system, CC pulmonary, skeletal and urogenital defects. CC -!- SIMILARITY: Belongs to the Wnt family. CC -!- WEB RESOURCE: Name=GeneReviews; CC URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/WNT3"; CC ----------------------------------------------------------------------- CC Copyrighted by the UniProt Consortium, see http://www.uniprot.org/terms CC Distributed under the Creative Commons Attribution-NoDerivs License CC ----------------------------------------------------------------------- DR EMBL; AY009397; AAG38657.1; -; mRNA. DR EMBL; AB067628; BAB70502.1; -; mRNA. DR EMBL; BC112116; AAI12117.1; -; mRNA. DR EMBL; BC112118; AAI12119.1; -; mRNA. DR EMBL; BC114219; AAI14220.1; -; mRNA. DR IPI; IPI00011023; -. DR PIR; A47536; A47536. DR RefSeq; NP_110380.1; NM_030753.3. DR UniGene; Hs.445884; -. DR IntAct; P56703; 1. DR STRING; P56703; -. DR DMDM; 14424477; -. DR PRIDE; P56703; -. DR Ensembl; ENST00000225512; ENSP00000225512; ENSG00000108379. DR GeneID; 7473; -. DR KEGG; hsa:7473; -. DR UCSC; uc002ikv.1; human. DR CTD; 7473; -. DR GeneCards; GC17M044839; -. DR H-InvDB; HIX0039031; -. DR HGNC; HGNC:12782; WNT3. DR MIM; 165330; gene. DR MIM; 273395; phenotype. DR neXtProt; NX_P56703; -. DR Orphanet; 1027; Autosomal recessive amelia. DR Orphanet; 3301; Tetraamelia - multiple malformations. DR PharmGKB; PA37383; -. DR eggNOG; prNOG14485; -. DR GeneTree; ENSGT00600000084119; -. DR HOGENOM; HBG446188; -. DR HOVERGEN; HBG001595; -. DR InParanoid; P56703; -. DR OMA; MCGCDSH; -. DR OrthoDB; EOG4XD3R9; -. DR PhylomeDB; P56703; -. DR Reactome; REACT_111102; Signal Transduction. DR NextBio; 29272; -. DR ArrayExpress; P56703; -. DR Bgee; P56703; -. DR CleanEx; HS_WNT3; -. DR Genevestigator; P56703; -. DR GermOnline; ENSG00000108379; Homo sapiens. DR GO; GO:0005769; C:early endosome; IBA:RefGenome. DR GO; GO:0005615; C:extracellular space; TAS:BHF-UCL. DR GO; GO:0005770; C:late endosome; IBA:RefGenome. DR GO; GO:0005624; C:membrane fraction; IDA:BHF-UCL. DR GO; GO:0045121; C:membrane raft; IBA:RefGenome. DR GO; GO:0005886; C:plasma membrane; IBA:RefGenome. DR GO; GO:0005578; C:proteinaceous extracellular matrix; IEA:UniProtKB-SubCell. DR GO; GO:0005110; F:frizzled-2 binding; IBA:RefGenome. DR GO; GO:0044338; P:canonical Wnt receptor signaling pathway involved in mesenchymal stem cell differentiation; IMP:BHF-UCL. DR GO; GO:0044339; P:canonical Wnt receptor signaling pathway involved in osteoblast differentiation; IMP:BHF-UCL. DR GO; GO:0071300; P:cellular response to retinoic acid; ISS:UniProtKB. DR GO; GO:0009950; P:dorsal/ventral axis specification; IBA:RefGenome. DR GO; GO:0035115; P:embryonic forelimb morphogenesis; IBA:RefGenome. DR GO; GO:0035116; P:embryonic hindlimb morphogenesis; IBA:RefGenome. DR GO; GO:0009880; P:embryonic pattern specification; IBA:RefGenome. DR GO; GO:0060323; P:head morphogenesis; IBA:RefGenome. DR GO; GO:0071425; P:hemopoietic stem cell proliferation; IBA:RefGenome. DR GO; GO:0042472; P:inner ear morphogenesis; IBA:RefGenome. DR GO; GO:0060174; P:limb bud formation; IMP:BHF-UCL. DR GO; GO:0061180; P:mammary gland epithelium development; IEP:UniProtKB. DR GO; GO:0001707; P:mesoderm formation; IBA:RefGenome. DR GO; GO:0030917; P:midbrain-hindbrain boundary development; IBA:RefGenome. DR GO; GO:0045599; P:negative regulation of fat cell differentiation; IBA:RefGenome. DR GO; GO:0008284; P:positive regulation of cell proliferation; IBA:RefGenome. DR GO; GO:0060064; P:Spemann organizer formation at the anterior end of the primitive streak; IBA:RefGenome. DR GO; GO:0007223; P:Wnt receptor signaling pathway, calcium modulating pathway; IBA:RefGenome. DR InterPro; IPR005817; Wnt. DR InterPro; IPR009141; Wnt3. DR InterPro; IPR018161; Wnt_grthfactor_CS. DR KO; K00312; -. DR PANTHER; PTHR12027; Wnt; 1. DR PANTHER; PTHR12027:SF18; Wnt3; 1. DR Pfam; PF00110; wnt; 1. DR PRINTS; PR01843; WNT3PROTEIN. DR PRINTS; PR01349; WNTPROTEIN. DR SMART; SM00097; WNT1; 1. DR PROSITE; PS00246; WNT1; 1. PE 2: Evidence at transcript level; KW Complete proteome; Developmental protein; Extracellular matrix; KW Glycoprotein; Proto-oncogene; Reference proteome; Secreted; Signal; KW Wnt signaling pathway. FT SIGNAL 1 21 Potential. FT CHAIN 22 355 Proto-oncogene Wnt-3. FT /FTId=PRO_0000041416. FT CARBOHYD 90 90 N-linked (GlcNAc...) (Potential). FT CARBOHYD 301 301 N-linked (GlcNAc...) (Potential). SQ SEQUENCE 355 AA; 39645 MW; 85D15F2C7884A64F CRC64; MEPHLLGLLL GLLLGGTRVL AGYPIWWSLA LGQQYTSLGS QPLLCGSIPG LVPKQLRFCR NYIEIMPSVA EGVKLGIQEC QHQFRGRRWN CTTIDDSLAI FGPVLDKATR ESAFVHAIAS AGVAFAVTRS CAEGTSTICG CDSHHKGPPG EGWKWGGCSE DADFGVLVSR EFADARENRP DARSAMNKHN NEAGRTTILD HMHLKCKCHG LSGSCEVKTC WWAQPDFRAI GDFLKDKYDS ASEMVVEKHR ESRGWVETLR AKYSLFKPPT ERDLVYYENS PNFCEPNPET GSFGTRDRTC NVTSHGIDGC DLLCCGRGHN TRTEKRKEKC HCIFHWCCYV SCQECIRIYD VHTCK //