WNT1 Wnt family member 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: WNT1provided by HGNC
Official Full Name: Wnt family member 1provided by HGNC
Primary source: HGNC:HGNC:12774
See related: Ensembl:ENSG00000125084 MIM:164820; AllianceGenome:HGNC:12774
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: INT1; OI15; BMND16
Summary: 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]
Expression: Low expression observed in reference dataset See more
Orthologs: mouse all
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Genomic context

Location:: 12q13.12

Exon count:: 4

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	12	NC_000012.12 (48978322..48982620)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	12	NC_060936.1 (48940505..48944803)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	12	NC_000012.11 (49372105..49376403)

Chromosome 12 - NC_000012.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Exome sequencing identified mutations in the WNT1 and COL1A2 genes in osteogenesis imperfecta cases.
Title: Exome sequencing identified mutations in the WNT1 and COL1A2 genes in osteogenesis imperfecta cases.
Wnt/beta-catenin signaling and its modulators in nonalcoholic fatty liver diseases.
Title: Wnt/beta-catenin signaling and its modulators in nonalcoholic fatty liver diseases.
KLF3 Transcription Activates WNT1 and Promotes the Growth and Metastasis of Gastric Cancer via Activation of the WNT/beta-Catenin Signaling Pathway.
Title: KLF3 Transcription Activates WNT1 and Promotes the Growth and Metastasis of Gastric Cancer via Activation of the WNT/β-Catenin Signaling Pathway.
Genotypic and Phenotypic Spectrum and Pathogenesis of WNT1 Variants in a Large Cohort of Patients With OI/Osteoporosis.
Title: Genotypic and Phenotypic Spectrum and Pathogenesis of WNT1 Variants in a Large Cohort of Patients With OI/Osteoporosis.
Association of Membranous WNT-1 and Nuclear mTOR with Endometrial Cancer Grade.
Title: Association of Membranous WNT-1 and Nuclear mTOR with Endometrial Cancer Grade.
Osteoporosis related to WNT1 variants: a not infrequent cause of osteoporosis.
Title: Osteoporosis related to WNT1 variants: a not infrequent cause of osteoporosis.
Suppression of Wnt/beta-Catenin Signaling Is Associated with Downregulation of Wnt1, PORCN, and Rspo2 in Alzheimer's Disease.
Title: Suppression of Wnt/β-Catenin Signaling Is Associated with Downregulation of Wnt1, PORCN, and Rspo2 in Alzheimer's Disease.
In silico analyses of Wnt1 nsSNPs reveal structurally destabilizing variants, altered interactions with Frizzled receptors and its deregulation in tumorigenesis.
Title: In silico analyses of Wnt1 nsSNPs reveal structurally destabilizing variants, altered interactions with Frizzled receptors and its deregulation in tumorigenesis.
WNT1 expression influences the development of dysplasia of the hip via regulating RBPMS2/NOG-BMP2/4-GDF5- WISP2 pathway.
Title: WNT1 expression influences the development of dysplasia of the hip via regulating RBPMS2/NOG-BMP2/4-GDF5- WISP2 pathway.
MiR-140 targets Wnt1 to inhibit the proliferation and enhance drug sensitivity in osteosarcoma cells.
Title: MiR-140 targets Wnt1 to inhibit the proliferation and enhance drug sensitivity in osteosarcoma cells.

Submit: New GeneRIF Correction See all GeneRIFs (227)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Osteogenesis imperfecta type 15 MedGen: C3808844 OMIM: 615220 GeneReviews: Not available	Compare labs
OSTEOPOROSIS, EARLY-ONSET, SUSCEPTIBILITY TO MedGen: C3714945 OMIM: 615221 GeneReviews: Not available	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Replication interactions

Interaction	Pubs
Knockdown of wingless-type MMTV integration site family, member 1 (WNT1) by siRNA inhibits HIV-1 replication in HeLa-derived TZM-bl cells	PubMed

Protein interactions

Protein	Gene	Interaction	Pubs
Tat	tat	HIV-1 Tat-mediated downregulation of beta-catenin/Wnt signaling is dependent on the core and cysteine-rich domains (residues 20-48) of Tat	PubMed

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Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

Wnt1 (e-PCR), detects polymorphism
- UniSTS:471319

NoName (e-PCR)
- UniSTS:482083

NoName (e-PCR)
- UniSTS:481744

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables cytokine activity	IBA Inferred from Biological aspect of Ancestor more info
enables cytokine activity	ISS Inferred from Sequence or Structural Similarity more info
enables frizzled binding	IBA Inferred from Biological aspect of Ancestor more info
enables frizzled binding	IC Inferred by Curator more info	PubMed
enables frizzled binding	NAS Non-traceable Author Statement more info	PubMed
enables morphogen activity	TAS Traceable Author Statement more info	PubMed
enables protein domain specific binding	IEA Inferred from Electronic Annotation more info
enables receptor ligand activity	IC Inferred by Curator more info	PubMed
enables receptor ligand activity	IDA Inferred from Direct Assay more info	PubMed
enables receptor ligand activity	NAS Non-traceable Author Statement more info	PubMed

Process	Evidence Code	Pubs
involved_in Spemann organizer formation	ISS Inferred from Sequence or Structural Similarity more info
involved_in T cell differentiation in thymus	IEA Inferred from Electronic Annotation more info
involved_in Wnt signaling pathway	ISS Inferred from Sequence or Structural Similarity more info	PubMed
involved_in animal organ regeneration	IEA Inferred from Electronic Annotation more info
involved_in astrocyte-dopaminergic neuron signaling	IEA Inferred from Electronic Annotation more info
involved_in bone development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in branching involved in ureteric bud morphogenesis	IEA Inferred from Electronic Annotation more info
involved_in canonical Wnt signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
involved_in canonical Wnt signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in canonical Wnt signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in canonical Wnt signaling pathway	NAS Non-traceable Author Statement more info	PubMed
involved_in canonical Wnt signaling pathway	TAS Traceable Author Statement more info	PubMed
involved_in cell fate commitment	IBA Inferred from Biological aspect of Ancestor more info
involved_in cell proliferation in midbrain	IEA Inferred from Electronic Annotation more info
involved_in cell-cell signaling	ISS Inferred from Sequence or Structural Similarity more info
involved_in cellular response to peptide hormone stimulus	IEA Inferred from Electronic Annotation more info
involved_in central nervous system morphogenesis	ISS Inferred from Sequence or Structural Similarity more info
involved_in cerebellum formation	ISS Inferred from Sequence or Structural Similarity more info
involved_in diencephalon development	IEA Inferred from Electronic Annotation more info
involved_in embryonic axis specification	ISS Inferred from Sequence or Structural Similarity more info
involved_in embryonic brain development	IEA Inferred from Electronic Annotation more info
involved_in fat cell differentiation	IEA Inferred from Electronic Annotation more info
involved_in forebrain anterior/posterior pattern specification	IEA Inferred from Electronic Annotation more info
involved_in hematopoietic stem cell proliferation	IEA Inferred from Electronic Annotation more info
involved_in hepatocyte differentiation	IEA Inferred from Electronic Annotation more info
involved_in inner ear morphogenesis	IEA Inferred from Electronic Annotation more info
involved_in midbrain development	ISS Inferred from Sequence or Structural Similarity more info
involved_in midbrain dopaminergic neuron differentiation	NAS Non-traceable Author Statement more info	PubMed
involved_in midbrain dopaminergic neuron differentiation	TAS Traceable Author Statement more info	PubMed
involved_in midbrain-hindbrain boundary maturation during brain development	IEA Inferred from Electronic Annotation more info
involved_in myoblast fusion	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of BMP signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of apoptotic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of cell-cell adhesion	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of cell-substrate adhesion	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of cellular senescence	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of fat cell differentiation	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of transforming growth factor beta receptor signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of ubiquitin-dependent protein catabolic process	IEA Inferred from Electronic Annotation more info
involved_in neuron differentiation	IBA Inferred from Biological aspect of Ancestor more info
involved_in neuron fate determination	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of DNA-binding transcription factor activity	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of DNA-templated transcription	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of DNA-templated transcription	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of DNA-templated transcription	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of Notch signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of cell population proliferation	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of cell population proliferation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of dermatome development	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of fibroblast proliferation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of hematopoietic stem cell proliferation	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of insulin-like growth factor receptor signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of lamellipodium assembly	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of transcription by RNA polymerase II	IEA Inferred from Electronic Annotation more info
involved_in response to wounding	IEP Inferred from Expression Pattern more info	PubMed
involved_in signal transduction in response to DNA damage	IDA Inferred from Direct Assay more info	PubMed
involved_in spinal cord association neuron differentiation	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in Golgi lumen	TAS Traceable Author Statement more info
located_in cell surface	IEA Inferred from Electronic Annotation more info
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in endocytic vesicle membrane	TAS Traceable Author Statement more info
located_in endoplasmic reticulum lumen	TAS Traceable Author Statement more info
located_in extracellular exosome	TAS Traceable Author Statement more info
located_in extracellular region	TAS Traceable Author Statement more info
is_active_in extracellular space	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	TAS Traceable Author Statement more info

General protein information

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Preferred Names: proto-oncogene Wnt-1

Names: proto-oncogene Int-1 homolog; wingless-type MMTV integration site family member 1; wingless-type MMTV integration site family, member 1 (oncogene INT1)

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.