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Protein

Protein Wnt-10a

Gene

WNT10A

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

Ligand for members of the frizzled family of seven transmembrane receptors (Probable). Functions in the canonical Wnt/beta-catenin signaling pathway (By similarity). Plays a role in normal ectoderm development (PubMed:17847007, PubMed:28589954). Required for normal tooth development (PubMed:17847007, PubMed:29178643, PubMed:28589954). Required for normal postnatal development and maintenance of tongue papillae and sweat ducts (PubMed:28589954). Required for normal proliferation of basal cells in tongue filiform papillae, plantar epithelium and sweat ducts. Required for normal expression of keratins in tongue papillae (By similarity). Required for normal expression of KRT9 in foot plant epithelium (PubMed:28589954). Required for normal hair follicle function (PubMed:28589954).By similarityCurated3 Publications

GO - Molecular functioni

  • frizzled binding Source: GO_Central
  • receptor ligand activity Source: WormBase

GO - Biological processi

Keywordsi

Molecular functionDevelopmental protein
Biological processWnt signaling pathway

Enzyme and pathway databases

ReactomeiR-HSA-3238698 WNT ligand biogenesis and trafficking
R-HSA-373080 Class B/2 (Secretin family receptors)
SIGNORiQ9GZT5

Names & Taxonomyi

Protein namesi
Recommended name:
Protein Wnt-10a
Gene namesi
Name:WNT10A
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 2

Organism-specific databases

EuPathDBiHostDB:ENSG00000135925.8
HGNCiHGNC:13829 WNT10A
MIMi606268 gene
neXtProtiNX_Q9GZT5

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Extracellular matrix, Secreted

Pathology & Biotechi

Involvement in diseasei

Odonto-onycho-dermal dysplasia (OODD)5 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA rare autosomal recessive ectodermal dysplasia characterized by dry hair, severe hypodontia, smooth tongue with marked reduction of fungiform and filiform papillae, onychodysplasia, keratoderma and hyperhidrosis of palms and soles, and hyperkeratosis of the skin.
See also OMIM:257980
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_077448131A → V in OODD. 1 Publication1
Natural variantiVAR_077453356G → C in OODD; unknown pathological significance. 1 Publication1
Schopf-Schulz-Passarge syndrome (SSPS)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA rare ectodermal dysplasia, characterized chiefly by cysts of the eyelid margins, palmoplantar keratoderma, hypodontia, hypotrichosis and nail dystrophy. Multiple eyelid apocrine hidrocystomas are the hallmark of this condition, although they usually appear in adulthood. The concomitant presence of eccrine syringofibroadenoma in most patients and of other adnexal skin tumors in some affected subjects indicates that Schopf-Schulz-Passarge syndrome is a genodermatosis with skin appendage neoplasms.
See also OMIM:224750
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_077447131A → T in SSPS. 1 PublicationCorresponds to variant dbSNP:rs372993798EnsemblClinVar.1
Natural variantiVAR_077451266G → C in SSPS. 1 Publication1
Tooth agenesis, selective, 4 (STHAG4)8 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of selective tooth agenesis, a common anomaly characterized by the congenital absence of one or more teeth. Selective tooth agenesis without associated systemic disorders has sometimes been divided into 2 types: oligodontia, defined as agenesis of 6 or more permanent teeth, and hypodontia, defined as agenesis of less than 6 teeth. The number in both cases does not include absence of third molars (wisdom teeth). In STHAG4, the upper lateral incisors are absent or peg-shaped. Some STHAG4 patients manifest mild features of ectodermal dysplasia, including sparse hair, sparse eyebrows, short eyelashes, abnormalities of the nails, sweating anomalies and dry skin. STHAG4 inheritance is autosomal dominant or autosomal recessive.
See also OMIM:150400
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07941870R → W in STHAG4; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs146460077EnsemblClinVar.1
Natural variantiVAR_06917195E → K in STHAG4. 1 PublicationCorresponds to variant dbSNP:rs318240759EnsemblClinVar.1
Natural variantiVAR_079419107 – 417Missing in STHAG4. 1 PublicationAdd BLAST311
Natural variantiVAR_079420113R → C in STHAG4; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs141074983EnsemblClinVar.1
Natural variantiVAR_077446126G → S in STHAG4; unknown pathological significance. 1 Publication1
Natural variantiVAR_064837143H → Y in STHAG4; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs202024965Ensembl.1
Natural variantiVAR_064838145V → M in STHAG4; unknown pathological significance. 2 PublicationsCorresponds to variant dbSNP:rs543063101EnsemblClinVar.1
Natural variantiVAR_069172163R → W in STHAG4; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs368280129EnsemblClinVar.1
Natural variantiVAR_077449171R → C in STHAG4; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs116998555EnsemblClinVar.1
Natural variantiVAR_069173217D → N in STHAG4; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs146902156EnsemblClinVar.1
Natural variantiVAR_079421223R → C in STHAG4; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs149245953EnsemblClinVar.1
Natural variantiVAR_077452266G → S in STHAG4; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs778752861Ensembl.1
Natural variantiVAR_069174277W → C in STHAG4. 1 Publication1
Natural variantiVAR_069175306N → K in STHAG4; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs745513263EnsemblClinVar.1
Natural variantiVAR_077454357T → I in STHAG4; unknown pathological significance. 2 PublicationsCorresponds to variant dbSNP:rs750190755Ensembl.1
Natural variantiVAR_077455379R → C in STHAG4; unknown pathological significance. 1 Publication1

Keywords - Diseasei

Disease mutation, Ectodermal dysplasia, Hypotrichosis, Palmoplantar keratoderma

Organism-specific databases

DisGeNETi80326
MalaCardsiWNT10A
MIMi150400 phenotype
224750 phenotype
257980 phenotype
OpenTargetsiENSG00000135925
Orphaneti248 Autosomal recessive hypohidrotic ectodermal dysplasia
2227 Hypodontia
2721 Odonto-onycho-dermal dysplasia
99798 Oligodontia
50944 Schopf-Schulz-Passarge syndrome
PharmGKBiPA37817

Polymorphism and mutation databases

BioMutaiWNT10A
DMDMi14424011

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 35Sequence analysisAdd BLAST35
ChainiPRO_000004146036 – 417Protein Wnt-10aAdd BLAST382

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei59PhosphothreonineBy similarity1
Disulfide bondi96 ↔ 107By similarity
Glycosylationi106N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi149 ↔ 157By similarity
Disulfide bondi159 ↔ 214By similarity
Disulfide bondi262 ↔ 276By similarity
Disulfide bondi264 ↔ 271By similarity
Lipidationi268O-palmitoleoyl serine; by PORCNBy similarity1
Disulfide bondi362 ↔ 377By similarity
Glycosylationi363N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi392 ↔ 407By similarity
Disulfide bondi394 ↔ 404By similarity
Disulfide bondi399 ↔ 400By similarity

Post-translational modificationi

Palmitoleoylation is required for efficient binding to frizzled receptors. Depalmitoleoylation leads to Wnt signaling pathway inhibition.By similarity

Keywords - PTMi

Disulfide bond, Glycoprotein, Lipoprotein, Phosphoprotein

Proteomic databases

PaxDbiQ9GZT5
PeptideAtlasiQ9GZT5
PRIDEiQ9GZT5
ProteomicsDBi80132

PTM databases

PhosphoSitePlusiQ9GZT5

Expressioni

Gene expression databases

BgeeiENSG00000135925 Expressed in 78 organ(s), highest expression level in ectocervix
CleanExiHS_WNT10A
ExpressionAtlasiQ9GZT5 baseline and differential
GenevisibleiQ9GZT5 HS

Organism-specific databases

HPAiHPA013898

Interactioni

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).

GO - Molecular functioni

Protein-protein interaction databases

BioGridi123238, 1 interactor
IntActiQ9GZT5, 1 interactor
STRINGi9606.ENSP00000258411

Structurei

3D structure databases

ProteinModelPortaliQ9GZT5
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the Wnt family.Curated

Keywords - Domaini

Signal

Phylogenomic databases

eggNOGiKOG3913 Eukaryota
ENOG410XQZ1 LUCA
GeneTreeiENSGT00690000101857
HOGENOMiHOG000039528
HOVERGENiHBG001595
InParanoidiQ9GZT5
KOiK01357
OMAiCSHNMDF
OrthoDBiEOG091G0OFF
PhylomeDBiQ9GZT5
TreeFamiTF105310

Family and domain databases

InterProiView protein in InterPro
IPR005817 Wnt
IPR013302 Wnt10
IPR018161 Wnt_CS
PANTHERiPTHR12027 PTHR12027, 1 hit
PfamiView protein in Pfam
PF00110 wnt, 1 hit
PRINTSiPR01893 WNT10PROTEIN
PR01349 WNTPROTEIN
SMARTiView protein in SMART
SM00097 WNT1, 1 hit
PROSITEiView protein in PROSITE
PS00246 WNT1, 1 hit

Sequence (1+)i

Sequence statusi: Complete.

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.iShow all

Q9GZT5-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MGSAHPRPWL RLRPQPQPRP ALWVLLFFLL LLAAAMPRSA PNDILDLRLP
60 70 80 90 100
PEPVLNANTV CLTLPGLSRR QMEVCVRHPD VAASAIQGIQ IAIHECQHQF
110 120 130 140 150
RDQRWNCSSL ETRNKIPYES PIFSRGFRES AFAYAIAAAG VVHAVSNACA
160 170 180 190 200
LGKLKACGCD ASRRGDEEAF RRKLHRLQLD ALQRGKGLSH GVPEHPALPT
210 220 230 240 250
ASPGLQDSWE WGGCSPDMGF GERFSKDFLD SREPHRDIHA RMRLHNNRVG
260 270 280 290 300
RQAVMENMRR KCKCHGTSGS CQLKTCWQVT PEFRTVGALL RSRFHRATLI
310 320 330 340 350
RPHNRNGGQL EPGPAGAPSP APGAPGPRRR ASPADLVYFE KSPDFCEREP
360 370 380 390 400
RLDSAGTVGR LCNKSSAGSD GCGSMCCGRG HNILRQTRSE RCHCRFHWCC
410
FVVCEECRIT EWVSVCK
Length:417
Mass (Da):46,444
Last modified:March 1, 2001 - v1
Checksum:i868DF5146A895319
GO

Computationally mapped potential isoform sequencesi

There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
H7BZB8H7BZB8_HUMAN
Protein Wnt
WNT10A
212Annotation score:

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti52E → G in BAB55602 (PubMed:11350055).Curated1
Sequence conflicti52E → G in BAB14898 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07941870R → W in STHAG4; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs146460077EnsemblClinVar.1
Natural variantiVAR_06917195E → K in STHAG4. 1 PublicationCorresponds to variant dbSNP:rs318240759EnsemblClinVar.1
Natural variantiVAR_079419107 – 417Missing in STHAG4. 1 PublicationAdd BLAST311
Natural variantiVAR_079420113R → C in STHAG4; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs141074983EnsemblClinVar.1
Natural variantiVAR_077446126G → S in STHAG4; unknown pathological significance. 1 Publication1
Natural variantiVAR_062510128R → Q in OODD and STHAG4. 2 PublicationsCorresponds to variant dbSNP:rs121908121EnsemblClinVar.1
Natural variantiVAR_077447131A → T in SSPS. 1 PublicationCorresponds to variant dbSNP:rs372993798EnsemblClinVar.1
Natural variantiVAR_077448131A → V in OODD. 1 Publication1
Natural variantiVAR_064837143H → Y in STHAG4; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs202024965Ensembl.1
Natural variantiVAR_064838145V → M in STHAG4; unknown pathological significance. 2 PublicationsCorresponds to variant dbSNP:rs543063101EnsemblClinVar.1
Natural variantiVAR_069172163R → W in STHAG4; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs368280129EnsemblClinVar.1
Natural variantiVAR_077449171R → C in STHAG4; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs116998555EnsemblClinVar.1
Natural variantiVAR_077450213G → S in STHAG4 and OODD; unknown pathological significance. 6 PublicationsCorresponds to variant dbSNP:rs147680216EnsemblClinVar.1
Natural variantiVAR_069173217D → N in STHAG4; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs146902156EnsemblClinVar.1
Natural variantiVAR_079421223R → C in STHAG4; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs149245953EnsemblClinVar.1
Natural variantiVAR_062511228F → I in OODD and STHAG4; also found in patients with an unclassified form of ectodermal dysplasia. 4 PublicationsCorresponds to variant dbSNP:rs121908120EnsemblClinVar.1
Natural variantiVAR_077451266G → C in SSPS. 1 Publication1
Natural variantiVAR_077452266G → S in STHAG4; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs778752861Ensembl.1
Natural variantiVAR_069174277W → C in STHAG4. 1 Publication1
Natural variantiVAR_013239302P → T. Corresponds to variant dbSNP:rs1057306Ensembl.1
Natural variantiVAR_069175306N → K in STHAG4; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs745513263EnsemblClinVar.1
Natural variantiVAR_077453356G → C in OODD; unknown pathological significance. 1 Publication1
Natural variantiVAR_077454357T → I in STHAG4; unknown pathological significance. 2 PublicationsCorresponds to variant dbSNP:rs750190755Ensembl.1
Natural variantiVAR_064839360R → C Probable disease-associated mutation found in patients with an unclassified form of ectodermal dysplasia. 1 Publication1
Natural variantiVAR_077455379R → C in STHAG4; unknown pathological significance. 1 Publication1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY009400 mRNA Translation: AAG38660.1
AF315943 Genomic DNA Translation: AAG45153.1
AB059569 mRNA Translation: BAB55602.1
AK024363 mRNA Translation: BAB14898.1
AK315081 mRNA Translation: BAG37548.1
AC073128 Genomic DNA Translation: AAY24175.1
CH471063 Genomic DNA Translation: EAW70659.1
BC052234 mRNA Translation: AAH52234.1
CCDSiCCDS2426.1
PIRiJC7693
RefSeqiNP_079492.2, NM_025216.2
UniGeneiHs.121540

Genome annotation databases

EnsembliENST00000258411; ENSP00000258411; ENSG00000135925
GeneIDi80326
KEGGihsa:80326
UCSCiuc002vjd.2 human

Keywords - Coding sequence diversityi

Polymorphism

Similar proteinsi

Entry informationi

Entry nameiWN10A_HUMAN
AccessioniPrimary (citable) accession number: Q9GZT5
Secondary accession number(s): Q53S44, Q96TA7, Q9H7S8
Entry historyiIntegrated into UniProtKB/Swiss-Prot: June 20, 2001
Last sequence update: March 1, 2001
Last modified: September 12, 2018
This is version 152 of the entry and version 1 of the sequence. See complete history.
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.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome
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Main funding by: National Institutes of Health

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