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UniProtKB - P04628 (WNT1_HUMAN)

Entry version 191 (07 Apr 2021)
Sequence version 1 (13 Aug 1987)
Previous versions | rss
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Protein

Proto-oncogene Wnt-1

Gene

WNT1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the 'protein existence' evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

Ligand for members of the frizzled family of seven transmembrane receptors (Probable). Acts in the canonical Wnt signaling pathway by promoting beta-catenin-dependent transcriptional activation (PubMed:23499309, PubMed:26902720, PubMed:28528193, PubMed:23656646). In some developmental processes, is also a ligand for the coreceptor RYK, thus triggering Wnt signaling (By similarity). Plays an essential role in the development of the embryonic brain and central nervous system (CNS) (By similarity). Has a role in osteoblast function, bone development and bone homeostasis (PubMed:23499309, PubMed:23656646).By similarityCurated4 Publications

Caution

A palmitoylation site was proposed at Cys-93, but it was later shown that this cysteine is engaged in a disulfide bond.1 Publication

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

  • cytokine activity Source: BHF-UCL
  • frizzled binding Source: GO_Central
  • morphogen activity Source: ParkinsonsUK-UCL
  • protein domain specific binding Source: Ensembl
  • receptor ligand activity Source: WormBase
Complete GO annotation on QuickGO ...

GO - Biological processi

Complete GO annotation on QuickGO ...

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionDevelopmental protein
Biological processWnt signaling pathway

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

More...PathwayCommonsi		P04628

Reactome - a knowledgebase of biological pathways and processes

More...Reactomei		R-HSA-201681, TCF dependent signaling in response to WNT
R-HSA-3238698, WNT ligand biogenesis and trafficking
R-HSA-373080, Class B/2 (Secretin family receptors)
R-HSA-381340, Transcriptional regulation of white adipocyte differentiation
R-HSA-4086400, PCP/CE pathway
R-HSA-4641262, Disassembly of the destruction complex and recruitment of AXIN to the membrane

SignaLink: a signaling pathway resource with multi-layered regulatory networks

More...SignaLinki		P04628

SIGNOR Signaling Network Open Resource

More...SIGNORi		P04628

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Proto-oncogene Wnt-1
Alternative name(s):
Proto-oncogene Int-1 homolog
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: 'Name', 'Synonyms', 'Ordered locus names' and 'ORF names'.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:WNT1
Synonyms:INT1
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the 'taxonomic identifier' or 'taxid'.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes%5Fmanual">proteome</a> can consist of several components.<br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 12

Organism-specific databases

Human Gene Nomenclature Database

More...HGNCi		HGNC:12774, WNT1

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		164820, gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_P04628

Eukaryotic Pathogen, Vector and Host Database Resources

More...VEuPathDBi		HostDB:ENSG00000125084.11

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Keywords - Cellular componenti

Extracellular matrix, Secreted

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the 'Pathology and Biotech' section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Osteoporosis (OSTEOP)2 Publications
Disease susceptibility is associated with variants affecting the gene represented in this entry.
Disease descriptionA 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.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_069629218C → G in OSTEOP; reduced capacity to activate canonical Wnt signaling. 1 PublicationCorresponds to variant dbSNP:rs397514702EnsemblClinVar.1
Natural variantiVAR_069630235R → W in OSTEOP; associated with susceptibility to early-onset osteoporosis; completely fails to activate the Wnt-regulated beta-catenin signaling cascade. 1 PublicationCorresponds to variant dbSNP:rs387907359EnsemblClinVar.1
Osteogenesis imperfecta 15 (OI15)5 Publications
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionAn 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.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_079407123E → D in OI15; reduced capacity to activate canonical Wnt signaling. 1 Publication1
Natural variantiVAR_069627143C → F in OI15. 1 Publication1
Natural variantiVAR_079408153C → G in OI15; reduced capacity to activate canonical Wnt signaling. 1 Publication1
Natural variantiVAR_069628177G → C in OI15; completely fails to activate the Wnt-regulated beta-catenin signaling cascade. 1 Publication1
Natural variantiVAR_069631298F → C in OI15. 2 Publications1
Natural variantiVAR_069632355V → F in OI15. 1 PublicationCorresponds to variant dbSNP:rs387907358EnsemblClinVar.1

Keywords - Diseasei

Disease variant, Osteogenesis imperfecta, Proto-oncogene

Organism-specific databases

DisGeNET

More...DisGeNETi		7471

MalaCards human disease database

More...MalaCardsi		WNT1
MIMi166710, phenotype
615220, phenotype
615221, phenotype

Open Targets

More...OpenTargetsi		ENSG00000125084

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...Orphaneti		85193, Idiopathic juvenile osteoporosis
216812, Osteogenesis imperfecta type 3
216820, Osteogenesis imperfecta type 4

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA37376

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		P04628, Tbio

Genetic variation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		WNT1

Domain mapping of disease mutations (DMDM)

More...DMDMi		139743

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section denotes the presence of an N-terminal signal peptide.<p><a href='/help/signal' target='_top'>More...</a></p>Signal peptidei1 – 27Sequence analysisAdd BLAST27
<p>This subsection of the 'PTM / Processing' section describes the extent of a polypeptide chain in the mature protein following processing or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_000004140528 – 370Proto-oncogene Wnt-1Add BLAST343

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">PTM / Processing</a> section specifies the position and type of each covalently attached glycan group (mono-, di-, or polysaccharide).<p><a href='/help/carbohyd' target='_top'>More...</a></p>Glycosylationi29N-linked (GlcNAc...) asparagineSequence analysis1
<p>This subsection of the PTM / Processing":/help/ptm_processing_section section describes the positions of cysteine residues participating in disulfide bonds.<p><a href='/help/disulfid' target='_top'>More...</a></p>Disulfide bondi93 ↔ 104By similarity
Disulfide bondi143 ↔ 151By similarity
Disulfide bondi153 ↔ 170By similarity
Disulfide bondi218 ↔ 232By similarity
Disulfide bondi220 ↔ 227By similarity
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">PTM / Processing</a> section specifies the position(s) and the type of covalently attached lipid group(s).<p><a href='/help/lipid' target='_top'>More...</a></p>Lipidationi224O-palmitoleoyl serine; by PORCNBy similarity1
Disulfide bondi299 ↔ 330By similarity
Disulfide bondi315 ↔ 325By similarity
Glycosylationi316N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi329 ↔ 369By similarity
Disulfide bondi345 ↔ 360By similarity
Glycosylationi346N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi347 ↔ 357By similarity
Disulfide bondi352 ↔ 353By similarity
Glycosylationi359N-linked (GlcNAc...) asparagineSequence analysis1

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">PTM/processing</a> section describes post-translational modifications (PTMs). This subsection <strong>complements</strong> the information provided at the sequence level or describes modifications for which <strong>position-specific data is not yet available</strong>.<p><a href='/help/post-translational_modification' target='_top'>More...</a></p>Post-translational modificationi

Palmitoleoylation is required for efficient binding to frizzled receptors. Palmitoleoylation is necessary for proper trafficking to cell surface (Probable). Depalmitoleoylated by NOTUM, leading to inhibit Wnt signaling pathway (By similarity).By similarity1 Publication

Keywords - PTMi

Disulfide bond, Glycoprotein, Lipoprotein

Proteomic databases

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		P04628

PaxDb, a database of protein abundance averages across all three domains of life

More...PaxDbi		P04628

PeptideAtlas

More...PeptideAtlasi		P04628

PRoteomics IDEntifications database

More...PRIDEi		P04628

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		51722

PTM databases

GlyGen: Computational and Informatics Resources for Glycoscience

More...GlyGeni		P04628, 4 sites

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		P04628

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...PhosphoSitePlusi		P04628

SwissPalm database of S-palmitoylation events

More...SwissPalmi		P04628

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000125084, Expressed in frontal cortex and 60 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		P04628, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		P04628, HS

Organism-specific databases

Human Protein Atlas

More...HPAi		ENSG00000125084, Tissue enhanced (blood, brain, placenta)

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction%5Fsection">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function%5Fsection">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Forms a soluble 1:1 complex with AFM; this prevents oligomerization and is required for prolonged biological activity (PubMed:26902720). The complex with AFM may represent the physiological form in body fluids (PubMed:26902720).

Interacts with PORCN.

Interacts with RSPO1, RSPO2 and RSPO3 (By similarity).

Interacts with WLS (By similarity).

By similarity1 Publication

GO - Molecular functioni

Complete GO annotation on QuickGO ...

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...BioGRIDi		113308, 9 interactors

Protein interaction database and analysis system

More...IntActi		P04628, 3 interactors

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000293549

Chemistry databases

BindingDB database of measured binding affinities

More...BindingDBi		P04628

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		P04628, protein

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

SWISS-MODEL Repository - a database of annotated 3D protein structure models

More...SMRi		P04628

Database of comparative protein structure models

More...ModBasei		Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

<p>This subsection of the 'Family and domains' section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the Wnt family.Curated

Keywords - Domaini

Signal

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG3913, Eukaryota

Ensembl GeneTree

More...GeneTreei		ENSGT00940000160329

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		P04628

Identification of Orthologs from Complete Genome Data

More...OMAi		MGHWALL

Database of Orthologous Groups

More...OrthoDBi		624528at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		P04628

TreeFam database of animal gene trees

More...TreeFami		TF105310

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

More...Gene3Di		3.30.2460.20, 1 hit

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR005817, Wnt
IPR009139, Wnt1
IPR043158, Wnt_C
IPR018161, Wnt_CS

The PANTHER Classification System

More...PANTHERi		PTHR12027, PTHR12027, 1 hit

Pfam protein domain database

More...Pfami		View protein in Pfam
PF00110, wnt, 1 hit

Protein Motif fingerprint database; a protein domain database

More...PRINTSi		PR01841, WNT1PROTEIN
PR01349, WNTPROTEIN

Simple Modular Architecture Research Tool; a protein domain database

More...SMARTi		View protein in SMART
SM00097, WNT1, 1 hit

PROSITE; a protein domain and family database

More...PROSITEi		View protein in PROSITE
PS00246, WNT1, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence%5Flength">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequence (1+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is in its mature form or if it represents the precursor.<p><a href='/help/sequence_processing' target='_top'>More...</a></p>Sequence processingi: The displayed sequence is further processed into a mature form.

This entry has 1 described isoform and 1 potential isoform that is computationally mapped.Show allAlign All

P04628-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MGLWALLPGW VSATLLLALA ALPAALAANS SGRWWGIVNV ASSTNLLTDS 
        60         70         80         90        100
KSLQLVLEPS LQLLSRKQRR LIRQNPGILH SVSGGLQSAV RECKWQFRNR 
       110        120        130        140        150
RWNCPTAPGP HLFGKIVNRG CRETAFIFAI TSAGVTHSVA RSCSEGSIES 
       160        170        180        190        200
CTCDYRRRGP GGPDWHWGGC SDNIDFGRLF GREFVDSGEK GRDLRFLMNL 
       210        220        230        240        250
HNNEAGRTTV FSEMRQECKC HGMSGSCTVR TCWMRLPTLR AVGDVLRDRF 
       260        270        280        290        300
DGASRVLYGN RGSNRASRAE LLRLEPEDPA HKPPSPHDLV YFEKSPNFCT 
       310        320        330        340        350
YSGRLGTAGT AGRACNSSSP ALDGCELLCC GRGHRTRTQR VTERCNCTFH 
       360        370
WCCHVSCRNC THTRVLHECL
Length:370
Mass (Da):40,982
Last modified:August 13, 1987 - v1
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:iF7E8111DA12E173F
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A0A087WXR9A0A087WXR9_HUMAN
Protein Wnt
WNT1
359Annotation score:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

<p>This subsection of the 'Sequence' section provides information on polymorphic variants. If the variant is associated with a disease state, the description of the latter can be found in the <a href="http://www.uniprot.org/manual/involvement%5Fin%5Fdisease">'Involvement in disease'</a> subsection.<p><a href='/help/polymorphism' target='_top'>More...</a></p>Polymorphismi

Genetic variations in WNT1 define the bone mineral density quantitative trait locus 16 (BMND16) [MIMi: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.1 Publication

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_079407123E → D in OI15; reduced capacity to activate canonical Wnt signaling. 1 Publication1
Natural variantiVAR_069627143C → F in OI15. 1 Publication1
Natural variantiVAR_079408153C → G in OI15; reduced capacity to activate canonical Wnt signaling. 1 Publication1
Natural variantiVAR_069628177G → C in OI15; completely fails to activate the Wnt-regulated beta-catenin signaling cascade. 1 Publication1
Natural variantiVAR_069629218C → G in OSTEOP; reduced capacity to activate canonical Wnt signaling. 1 PublicationCorresponds to variant dbSNP:rs397514702EnsemblClinVar.1
Natural variantiVAR_069630235R → W in OSTEOP; associated with susceptibility to early-onset osteoporosis; completely fails to activate the Wnt-regulated beta-catenin signaling cascade. 1 PublicationCorresponds to variant dbSNP:rs387907359EnsemblClinVar.1
Natural variantiVAR_069631298F → C in OI15. 2 Publications1
Natural variantiVAR_069632355V → F in OI15. 1 PublicationCorresponds to variant dbSNP:rs387907358EnsemblClinVar.1

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...EMBLi

GenBank nucleotide sequence database

More...GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...DDBJi
Links Updated
X03072 Genomic DNA Translation: CAA26874.1
BT019429 mRNA Translation: AAV38236.1
CH471111 Genomic DNA Translation: EAW58030.1
BC074798 mRNA Translation: AAH74798.1
BC074799 mRNA Translation: AAH74799.1

The Consensus CDS (CCDS) project

More...CCDSi		CCDS8776.1

Protein sequence database of the Protein Information Resource

More...PIRi		A24674, TVHUT1

NCBI Reference Sequences

More...RefSeqi		NP_005421.1, NM_005430.3

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000293549; ENSP00000293549; ENSG00000125084

Database of genes from NCBI RefSeq genomes

More...GeneIDi		7471

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:7471

UCSC genome browser

More...UCSCi		uc001rsu.4, human

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
X03072 Genomic DNA Translation: CAA26874.1
BT019429 mRNA Translation: AAV38236.1
CH471111 Genomic DNA Translation: EAW58030.1
BC074798 mRNA Translation: AAH74798.1
BC074799 mRNA Translation: AAH74799.1
CCDSiCCDS8776.1
PIRiA24674, TVHUT1
RefSeqiNP_005421.1, NM_005430.3

3D structure databases

SMRiP04628
ModBaseiSearch...

Protein-protein interaction databases

BioGRIDi113308, 9 interactors
IntActiP04628, 3 interactors
STRINGi9606.ENSP00000293549

Chemistry databases

BindingDBiP04628

PTM databases

GlyGeniP04628, 4 sites
iPTMnetiP04628
PhosphoSitePlusiP04628
SwissPalmiP04628

Genetic variation databases

BioMutaiWNT1
DMDMi139743

Proteomic databases

jPOSTiP04628
PaxDbiP04628
PeptideAtlasiP04628
PRIDEiP04628
ProteomicsDBi51722

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...Antibodypediai		13738, 552 antibodies

The DNASU plasmid repository

More...DNASUi		7471

Genome annotation databases

EnsembliENST00000293549; ENSP00000293549; ENSG00000125084
GeneIDi7471
KEGGihsa:7471
UCSCiuc001rsu.4, human

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		7471
DisGeNETi7471

GeneCards: human genes, protein and diseases

More...GeneCardsi		WNT1
HGNCiHGNC:12774, WNT1
HPAiENSG00000125084, Tissue enhanced (blood, brain, placenta)
MalaCardsiWNT1
MIMi164820, gene
166710, phenotype
615220, phenotype
615221, phenotype
neXtProtiNX_P04628
OpenTargetsiENSG00000125084
Orphaneti85193, Idiopathic juvenile osteoporosis
216812, Osteogenesis imperfecta type 3
216820, Osteogenesis imperfecta type 4
PharmGKBiPA37376
VEuPathDBiHostDB:ENSG00000125084.11

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG3913, Eukaryota
GeneTreeiENSGT00940000160329
InParanoidiP04628
OMAiMGHWALL
OrthoDBi624528at2759
PhylomeDBiP04628
TreeFamiTF105310

Enzyme and pathway databases

PathwayCommonsiP04628
ReactomeiR-HSA-201681, TCF dependent signaling in response to WNT
R-HSA-3238698, WNT ligand biogenesis and trafficking
R-HSA-373080, Class B/2 (Secretin family receptors)
R-HSA-381340, Transcriptional regulation of white adipocyte differentiation
R-HSA-4086400, PCP/CE pathway
R-HSA-4641262, Disassembly of the destruction complex and recruitment of AXIN to the membrane
SignaLinkiP04628
SIGNORiP04628

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...BioGRID-ORCSi		7471, 9 hits in 986 CRISPR screens

The Gene Wiki collection of pages on human genes and proteins

More...GeneWikii		WNT1

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...GenomeRNAii		7471
PharosiP04628, Tbio

Protein Ontology

More...PROi		PR:P04628
RNActiP04628, protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000125084, Expressed in frontal cortex and 60 other tissues
ExpressionAtlasiP04628, baseline and differential
GenevisibleiP04628, HS

Family and domain databases

Gene3Di3.30.2460.20, 1 hit
InterProiView protein in InterPro
IPR005817, Wnt
IPR009139, Wnt1
IPR043158, Wnt_C
IPR018161, Wnt_CS
PANTHERiPTHR12027, PTHR12027, 1 hit
PfamiView protein in Pfam
PF00110, wnt, 1 hit
PRINTSiPR01841, WNT1PROTEIN
PR01349, WNTPROTEIN
SMARTiView protein in SMART
SM00097, WNT1, 1 hit
PROSITEiView protein in PROSITE
PS00246, WNT1, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...ProtoNeti		Search...

MobiDB: a database of protein disorder and mobility annotations

More...MobiDBi		Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the 'Entry information' section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiWNT1_HUMAN
<p>This subsection of the 'Entry information' section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called 'Primary (citable) accession number'.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: P04628
Secondary accession number(s): Q5U0N2
<p>This subsection of the 'Entry information' section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification ('Last modified'). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: August 13, 1987
Last sequence update: August 13, 1987
Last modified: April 7, 2021
This is version 191 of the entry and version 1 of the sequence. See complete history.
<p>This subsection of the 'Entry information' section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

<p>This section contains any relevant information that doesn't fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Reference proteome

Documents

  1. Human chromosome 12
    Human chromosome 12: entries, gene names and cross-references to MIM
  2. Human entries with genetic variants
    List of human entries with genetic variants
  3. Human variants curated from literature reports
    Index of human variants curated from literature reports
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families
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