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

Gene ID: 7471, updated on 4-Jan-2025

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
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Genomic context

See WNT1 in Genome Data Viewer
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_000012.12Genomic Context describing neighboring genes Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:49360112-49360664 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:49361393-49362276 Neighboring gene Wnt family member 10B Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4416 Neighboring gene Sharpr-MPRA regulatory region 4091 Neighboring gene RNA, U6 small nuclear 940, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4417 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:49373043-49373642 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:49373643-49374244 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6298 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:49374845-49375445 Neighboring gene uncharacterized LOC105369757 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:49378822-49379344 Neighboring gene uncharacterized LOC105369756 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6300 Neighboring gene Sharpr-MPRA regulatory region 4123 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4419 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4420 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6301 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4421 Neighboring gene Sharpr-MPRA regulatory region 2140 Neighboring gene dendrin Neighboring gene DDN and PRKAG1 antisense RNA 1

Genomic regions, transcripts, and products

Expression

  • Project title: Tissue-specific circular RNA induction during human fetal development
  • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
  • BioProject: PRJNA270632
  • Publication: PMID 26076956
  • Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

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

HIV-1 interactions

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

Go to the HIV-1, Human Interaction Database

Pathways from PubChem

Interactions

General gene information

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables cytokine activity  
enables cytokine activity  
enables frizzled binding  
enables frizzled binding PubMed 
enables frizzled binding PubMed 
enables morphogen activity PubMed 
enables protein domain specific binding  
enables receptor ligand activity PubMed 
enables receptor ligand activity PubMed 
enables receptor ligand activity PubMed 
Items 1 - 25 of 58
Process Evidence Code Pubs
involved_in Spemann organizer formation  
involved_in T cell differentiation in thymus  
involved_in Wnt signaling pathway PubMed 
involved_in animal organ regeneration  
involved_in astrocyte-dopaminergic neuron signaling  
involved_in bone development PubMed 
involved_in branching involved in ureteric bud morphogenesis  
involved_in canonical Wnt signaling pathway  
involved_in canonical Wnt signaling pathway PubMed 
involved_in canonical Wnt signaling pathway PubMed 
involved_in canonical Wnt signaling pathway PubMed 
involved_in canonical Wnt signaling pathway PubMed 
involved_in cell fate commitment  
involved_in cell proliferation in midbrain  
involved_in cell-cell signaling  
involved_in cellular response to peptide hormone stimulus  
involved_in central nervous system morphogenesis  
involved_in cerebellum formation  
involved_in diencephalon development  
involved_in embryonic axis specification  
involved_in embryonic brain development  
involved_in fat cell differentiation  
involved_in forebrain anterior/posterior pattern specification  
involved_in hematopoietic stem cell proliferation  
involved_in hepatocyte differentiation  
involved_in inner ear morphogenesis  
involved_in midbrain development  
involved_in midbrain dopaminergic neuron differentiation PubMed 
involved_in midbrain dopaminergic neuron differentiation PubMed 
involved_in midbrain-hindbrain boundary maturation during brain development  
involved_in myoblast fusion  
involved_in negative regulation of BMP signaling pathway PubMed 
involved_in negative regulation of apoptotic process PubMed 
involved_in negative regulation of cell-cell adhesion PubMed 
involved_in negative regulation of cell-substrate adhesion PubMed 
involved_in negative regulation of cellular senescence PubMed 
involved_in negative regulation of fat cell differentiation  
involved_in negative regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway  
involved_in negative regulation of transforming growth factor beta receptor signaling pathway  
involved_in negative regulation of ubiquitin-dependent protein catabolic process  
involved_in neuron differentiation  
involved_in neuron fate determination  
involved_in positive regulation of DNA-binding transcription factor activity  
involved_in positive regulation of DNA-templated transcription PubMed 
involved_in positive regulation of DNA-templated transcription PubMed 
involved_in positive regulation of DNA-templated transcription  
involved_in positive regulation of Notch signaling pathway PubMed 
involved_in positive regulation of cell population proliferation PubMed 
involved_in positive regulation of cell population proliferation PubMed 
involved_in positive regulation of dermatome development PubMed 
involved_in positive regulation of fibroblast proliferation PubMed 
involved_in positive regulation of hematopoietic stem cell proliferation  
involved_in positive regulation of insulin-like growth factor receptor signaling pathway PubMed 
involved_in positive regulation of lamellipodium assembly PubMed 
involved_in positive regulation of transcription by RNA polymerase II  
involved_in response to wounding PubMed 
involved_in signal transduction in response to DNA damage PubMed 
involved_in spinal cord association neuron differentiation  
Items 1 - 25 of 58
Component Evidence Code Pubs
located_in Golgi lumen  
located_in cell surface  
located_in cytoplasm PubMed 
located_in endocytic vesicle membrane  
located_in endoplasmic reticulum lumen  
located_in extracellular exosome  
located_in extracellular region  
is_active_in extracellular space  
located_in plasma membrane  

General protein information

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.

Genomic

  1. NG_033141.1 RefSeqGene

    Range
    4870..9168
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_005430.4NP_005421.1  proto-oncogene Wnt-1 precursor

    See identical proteins and their annotated locations for NP_005421.1

    Status: REVIEWED

    Source sequence(s)
    AC073610, BC074798
    Consensus CDS
    CCDS8776.1
    UniProtKB/Swiss-Prot
    P04628, Q5U0N2
    Related
    ENSP00000293549.3, ENST00000293549.4
    Conserved Domains (1) summary
    cd19333
    Location:64370
    Wnt_Wnt1; Wnt domain found in proto-oncogene Wnt-1 and similar proteins

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000012.12 Reference GRCh38.p14 Primary Assembly

    Range
    48978322..48982620
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060936.1 Alternate T2T-CHM13v2.0

    Range
    48940505..48944803
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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