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Aliases for WNT1 Gene

Aliases for WNT1 Gene

  • Wnt Family Member 1 2 3 5
  • Proto-Oncogene Int-1 Homolog 3 4
  • INT1 3 4
  • Wingless-Type MMTV Integration Site Family, Member 1 (Oncogene INT1) 3
  • Wingless-Type MMTV Integration Site Family, Member 1 2
  • Wingless-Type MMTV Integration Site Family Member 1 3
  • Proto-Oncogene Wnt-1 3
  • BMND16 3
  • OI15 3

External Ids for WNT1 Gene

Previous HGNC Symbols for WNT1 Gene

  • INT1

Previous GeneCards Identifiers for WNT1 Gene

  • GC12M049438
  • GC12P049088
  • GC12P047658
  • GC12P049372
  • GC12P046403
  • GC12P048981
  • GC12P048985
  • GC12P048988
  • GC12P048989

Summaries for WNT1 Gene

Entrez Gene Summary for WNT1 Gene

  • The WNT gene family consists of structurally related genes which encode secreted signaling proteins. These proteins have been implicated in oncogenesis and in several developmental processes, including regulation of cell fate and patterning during embryogenesis. This gene is a member of the WNT gene family. It is very conserved in evolution, and the protein encoded by this gene is known to be 98% identical to the mouse Wnt1 protein at the amino acid level. The studies in mouse indicate that the Wnt1 protein functions in the induction of the mesencephalon and cerebellum. This gene was originally considered as a candidate gene for Joubert syndrome, an autosomal recessive disorder with cerebellar hypoplasia as a leading feature. However, further studies suggested that the gene mutations might not have a significant role in Joubert syndrome. This gene is clustered with another family member, WNT10B, in the chromosome 12q13 region. [provided by RefSeq, Jul 2008]

GeneCards Summary for WNT1 Gene

WNT1 (Wnt Family Member 1) is a Protein Coding gene. Diseases associated with WNT1 include Osteogenesis Imperfecta, Type Xv and Osteoporosis, Early-Onset Autosomal Dominant. Among its related pathways are Wnt Signaling Pathways: beta-Catenin-dependent Wnt Signaling and HTLV-I infection. GO annotations related to this gene include receptor binding and transcription regulatory region DNA binding. An important paralog of this gene is WNT3.

UniProtKB/Swiss-Prot for WNT1 Gene

  • Ligand for members of the frizzled family of seven transmembrane receptors. In some developmental processes, is also a ligand for the coreceptor RYK, thus triggering Wnt signaling. Probable developmental protein. May be a signaling molecule important in CNS development. Is likely to signal over only few cell diameters. Has a role in osteoblast function and bone development.

Gene Wiki entry for WNT1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for WNT1 Gene

Genomics for WNT1 Gene

Regulatory Elements for WNT1 Gene

Enhancers for WNT1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH12F048932 0.5 ENCODE 11.6 -44.4 -44414 3.4 CTCF ZNF654 RAD21 ZNF121 POLR2A SMC3 PRDM10 ZNF600 NR2F6 PRDM1 WNT10B CCDC65 ARF3 WNT1 RNU6-940P FKBP11 ENSG00000255863 GC12M048929
GH12F048978 0.2 ENCODE 0.8 +0.2 180 0.1 SUZ12 GFI1B CBX2 MLLT1 EZH2 WNT1 GC12P048993
GH12F048979 0.8 ENCODE 0.8 -0.1 -81 0.2 CTCF SUZ12 ZNF2 ZFHX2 PATZ1 SMC3 TRIM24 EZH2 EGR2 MAZ WNT10B RNU6-940P WNT1
GH12F048980 0.6 ENCODE 0.8 +0.6 580 0.2 RNF2 SUZ12 CBX2 EZH2 WNT1 GC12P048993
GH12F048981 0.2 ENCODE 0.8 +3.2 3160 0.1 SUZ12 CBX2 ARF3 FKBP11 ENSG00000255863 GC12P048993 WNT1
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around WNT1 on UCSC Golden Path with GeneCards custom track

Promoters for WNT1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001776984 1647 601 CBX8 RNF2 SUZ12 CBX2 SPI1 RARA EZH2

Genomic Location for WNT1 Gene

Chromosome:
12
Start:
48,978,453 bp from pter
End:
48,982,613 bp from pter
Size:
4,161 bases
Orientation:
Plus strand

Genomic View for WNT1 Gene

Genes around WNT1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
WNT1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for WNT1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for WNT1 Gene

Proteins for WNT1 Gene

  • Protein details for WNT1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P04628-WNT1_HUMAN
    Recommended name:
    Proto-oncogene Wnt-1
    Protein Accession:
    P04628
    Secondary Accessions:
    • Q5U0N2

    Protein attributes for WNT1 Gene

    Size:
    370 amino acids
    Molecular mass:
    40982 Da
    Quaternary structure:
    • Interacts with PORCN. Interacts with RSPO1, RSPO2 and RSPO3 (By similarity). Interacts with WLS (By similarity).

neXtProt entry for WNT1 Gene

Post-translational modifications for WNT1 Gene

  • Palmitoleylation is required for efficient binding to frizzled receptors. Palmitoleylation is necessary for proper trafficking to cell surface (Probable). Depalmitoleylated by NOTUM, leading to inhibit Wnt signaling pathway (By similarity).
  • Glycosylation at Asn 29, Asn 316, Asn 346, and Asn 359
  • Modification sites at PhosphoSitePlus

Other Protein References for WNT1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for WNT1 Gene

Domains & Families for WNT1 Gene

Gene Families for WNT1 Gene

Protein Domains for WNT1 Gene

Suggested Antigen Peptide Sequences for WNT1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P04628

UniProtKB/Swiss-Prot:

WNT1_HUMAN :
  • Belongs to the Wnt family.
Family:
  • Belongs to the Wnt family.
genes like me logo Genes that share domains with WNT1: view

Function for WNT1 Gene

Molecular function for WNT1 Gene

GENATLAS Biochemistry:
wingless-type MMTV integration site 1,Drosophila wingless (wg),segment polarity gene homolog,modulating cell fate and cell behavior during vertebrate development e
UniProtKB/Swiss-Prot Function:
Ligand for members of the frizzled family of seven transmembrane receptors. In some developmental processes, is also a ligand for the coreceptor RYK, thus triggering Wnt signaling. Probable developmental protein. May be a signaling molecule important in CNS development. Is likely to signal over only few cell diameters. Has a role in osteoblast function and bone development.

LifeMap Function Summary for WNT1 Gene

During embryonic development, WNT1 as signaling molecule is secreted from the following cells
It affects the following cells:
WNT1 as growth factor is involved in stem cell differentiation protocols towards the derivation of the following cells:

Gene Ontology (GO) - Molecular Function for WNT1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005102 receptor binding IEA --
GO:0005109 frizzled binding NAS,IBA 23461676
GO:0005125 cytokine activity ISS --
GO:0016015 morphogen activity TAS 24431302
GO:0019904 protein domain specific binding IEA --
genes like me logo Genes that share ontologies with WNT1: view
genes like me logo Genes that share phenotypes with WNT1: view

Human Phenotype Ontology for WNT1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for WNT1 Gene

MGI Knock Outs for WNT1:

Animal Model Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for WNT1

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for WNT1 Gene

Localization for WNT1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for WNT1 Gene

Secreted, extracellular space, extracellular matrix.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for WNT1 Gene COMPARTMENTS Subcellular localization image for WNT1 gene
Compartment Confidence
extracellular 5
golgi apparatus 5
plasma membrane 5
endoplasmic reticulum 4
cytoskeleton 2
nucleus 2
cytosol 1
lysosome 1
mitochondrion 1
vacuole 1

Gene Ontology (GO) - Cellular Components for WNT1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA,TAS --
GO:0005578 proteinaceous extracellular matrix IEA --
GO:0005615 extracellular space IBA --
GO:0005737 cytoplasm IDA 11793365
GO:0005788 endoplasmic reticulum lumen TAS --
genes like me logo Genes that share ontologies with WNT1: view

Pathways & Interactions for WNT1 Gene

genes like me logo Genes that share pathways with WNT1: view

SIGNOR curated interactions for WNT1 Gene

Activates:
Is inactivated by:

Gene Ontology (GO) - Biological Process for WNT1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000578 embryonic axis specification ISS --
GO:0001658 branching involved in ureteric bud morphogenesis IEA --
GO:0001934 positive regulation of protein phosphorylation IEA --
GO:0007267 cell-cell signaling ISS --
GO:0007275 multicellular organism development IEA --
genes like me logo Genes that share ontologies with WNT1: view

Drugs & Compounds for WNT1 Gene

(4) Drugs for WNT1 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(6) Additional Compounds for WNT1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with WNT1: view

Transcripts for WNT1 Gene

mRNA/cDNA for WNT1 Gene

(1) REFSEQ mRNAs :
(3) Additional mRNA sequences :
(3) Selected AceView cDNA sequences:
(2) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for WNT1 Gene

Wingless-type MMTV integration site family, member 1:
Representative Sequences:

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for WNT1

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for WNT1 Gene

No ASD Table

Relevant External Links for WNT1 Gene

GeneLoc Exon Structure for
WNT1
ECgene alternative splicing isoforms for
WNT1

Expression for WNT1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for WNT1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for WNT1 Gene

This gene is overexpressed in Brain - Nucleus accumbens (basal ganglia) (x11.5), Brain - Putamen (basal ganglia) (x5.7), Brain - Cortex (x4.8), and Brain - Caudate (basal ganglia) (x4.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for WNT1 Gene



Protein tissue co-expression partners for WNT1 Gene

NURSA nuclear receptor signaling pathways regulating expression of WNT1 Gene:

WNT1

SOURCE GeneReport for Unigene cluster for WNT1 Gene:

Hs.248164
genes like me logo Genes that share expression patterns with WNT1: view

Primer Products

No data available for Protein differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for WNT1 Gene

Orthologs for WNT1 Gene

This gene was present in the common ancestor of animals.

Orthologs for WNT1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia WNT1 34 35
  • 99.73 (n)
dog
(Canis familiaris)
Mammalia WNT1 34 35
  • 93.33 (n)
oppossum
(Monodelphis domestica)
Mammalia WNT1 35
  • 93 (a)
OneToOne
cow
(Bos Taurus)
Mammalia WNT1 34 35
  • 92.97 (n)
mouse
(Mus musculus)
Mammalia Wnt1 34 16 35
  • 91.53 (n)
rat
(Rattus norvegicus)
Mammalia Wnt1 34
  • 91.17 (n)
chicken
(Gallus gallus)
Aves WNT11B 35
  • 33 (a)
ManyToMany
lizard
(Anolis carolinensis)
Reptilia WNT1 35
  • 85 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100491444 34
  • 68.42 (n)
zebrafish
(Danio rerio)
Actinopterygii wnt1 34 35
  • 71.64 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP009734 34
  • 64.04 (n)
fruit fly
(Drosophila melanogaster)
Insecta wg 36 34 35
  • 62.08 (n)
Wnt5 36
  • 47 (a)
Wnt6 36
  • 44 (a)
worm
(Caenorhabditis elegans)
Secernentea cwn-1 35
  • 36 (a)
OneToMany
mom-2 36
  • 31 (a)
lin-44 36
  • 29 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 29 (a)
ManyToMany
Species where no ortholog for WNT1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for WNT1 Gene

ENSEMBL:
Gene Tree for WNT1 (if available)
TreeFam:
Gene Tree for WNT1 (if available)

Paralogs for WNT1 Gene

Paralogs for WNT1 Gene

(18) SIMAP similar genes for WNT1 Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with WNT1: view

Variants for WNT1 Gene

Polymorphic Variants from UniProtKB/Swiss-Prot for WNT1 Gene

WNT1_HUMAN-P04628
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.

Sequence variations from dbSNP and Humsavar for WNT1 Gene

SNP ID Clin Chr 12 pos Sequence Context AA Info Type
rs387907358 Osteogenesis imperfecta 15 (OI15) [MIM:615220], Pathogenic 48,981,590(+) GCCAC(G/T)TCAGC reference, missense
rs387907359 Osteoporosis (OSTEOP) [MIM:166710], other 48,981,230(+) GGATG(C/T)GGCTG reference, missense
rs397514702 Osteoporosis (OSTEOP) [MIM:166710], other 48,981,179(+) AGGAG(G/T)GCAAG reference, missense
VAR_069627 Osteogenesis imperfecta 15 (OI15) [MIM:615220]
VAR_069628 Osteogenesis imperfecta 15 (OI15) [MIM:615220]

Structural Variations from Database of Genomic Variants (DGV) for WNT1 Gene

Variant ID Type Subtype PubMed ID
nsv558833 CNV loss 21841781
nsv832404 CNV gain 17160897

Variation tolerance for WNT1 Gene

Residual Variation Intolerance Score: 63.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.63; 31.27% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for WNT1 Gene

Human Gene Mutation Database (HGMD)
WNT1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
WNT1

Disorders for WNT1 Gene

MalaCards: The human disease database

(15) MalaCards diseases for WNT1 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
osteogenesis imperfecta, type xv
  • osteogenesis imperfecta type 15
osteoporosis, early-onset autosomal dominant
  • early onset osteoporosis
wnt1-related osteogenesis imperfecta
  • osteogenesis imperfecta, type xv
osteogenesis imperfecta, type iv
  • osteogenesis imperfecta type 4
osteogenesis imperfecta, type iii
  • osteogenesis imperfecta type 3
- elite association - COSMIC cancer census association via MalaCards
Search WNT1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

WNT1_HUMAN
  • Osteogenesis imperfecta 15 (OI15) [MIM:615220]: An autosomal recessive form of osteogenesis imperfecta, a connective tissue disorder 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. {ECO:0000269 PubMed:23434763, ECO:0000269 PubMed:23499309, ECO:0000269 PubMed:23499310, ECO:0000269 PubMed:23656646}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Osteoporosis (OSTEOP) [MIM:166710]: A 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. {ECO:0000269 PubMed:23499309, ECO:0000269 PubMed:23656646}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.

Relevant External Links for WNT1

Genetic Association Database (GAD)
WNT1
Human Genome Epidemiology (HuGE) Navigator
WNT1
Tumor Gene Database (TGDB):
WNT1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
WNT1
genes like me logo Genes that share disorders with WNT1: view

No data available for Genatlas for WNT1 Gene

Publications for WNT1 Gene

  1. The nucleotide sequence of the human int-1 mammary oncogene; evolutionary conservation of coding and non-coding sequences. (PMID: 2998762) van Ooyen A. … Nusse R. (EMBO J. 1985) 2 3 4 64
  2. Mutations in WNT1 are a cause of osteogenesis imperfecta. (PMID: 23434763) Fahiminiya S. … Rauch F. (J. Med. Genet. 2013) 3 4 64
  3. WNT1 mutations in families affected by moderately severe and progressive recessive osteogenesis imperfecta. (PMID: 23499310) Pyott S.M. … Byers P.H. (Am. J. Hum. Genet. 2013) 3 4 64
  4. Mutations in WNT1 cause different forms of bone fragility. (PMID: 23499309) Keupp K. … Wollnik B. (Am. J. Hum. Genet. 2013) 3 4 64
  5. WNT1 mutations in early-onset osteoporosis and osteogenesis imperfecta. (PMID: 23656646) Laine C.M. … Maekitie O. (N. Engl. J. Med. 2013) 3 4 64

Products for WNT1 Gene

  • Addgene plasmids for WNT1

Sources for WNT1 Gene

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