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Q9GZT5 (WN10A_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 117. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Protein Wnt-10a
Gene names
Name:WNT10A
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length417 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is further processed into a mature form.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

Ligand for members of the frizzled family of seven transmembrane receptors. Probable developmental protein. May be a signaling molecule important in CNS development. Is likely to signal over only few cell diameters.

Subcellular location

Secretedextracellular spaceextracellular matrix.

Involvement in disease

Defects in WNT10A may be a cause of hypohidrotic/anhidrotic ectodermal dysplasia, a disorder characterized by sparse hair (atrichosis or hypotrichosis), abnormal or missing teeth and the inability to sweat due to the absence of sweat glands. Most patients carrying WNT10A mutations present with sweating anomalies. However, comparison with cases harboring mutations in the ectodysplasin pathway identifies some phenotypic differences. Dermatological features (anomalies of hair and sweat glands) are less severe in patients carrying WNT10A mutations and facial dysmorphism can be absent. The dental phenotype consists in microdontia, whereas teeth agenesis is more frequent in patients carrying mutations in the ectodysplasin pathway.

Odonto-onycho-dermal dysplasia (OODD) [MIM:257980]: A 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.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.8 Ref.9

Schopf-Schulz-Passarge syndrome (SSPS) [MIM:224750]: A 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.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.9

Tooth agenesis selective 4 (STHAG4) [MIM:150400]: A 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.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.11 Ref.12

Sequence similarities

Belongs to the Wnt family.

Ontologies

Keywords
   Biological processWnt signaling pathway
   Cellular componentExtracellular matrix
Secreted
   Coding sequence diversityPolymorphism
   DiseaseDisease mutation
Ectodermal dysplasia
Hypotrichosis
Palmoplantar keratoderma
   DomainSignal
   Molecular functionDevelopmental protein
   PTMGlycoprotein
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processWnt signaling pathway

Inferred from Biological aspect of Ancestor. Source: RefGenome

cell fate commitment

Inferred from Biological aspect of Ancestor. Source: RefGenome

cellular response to transforming growth factor beta stimulus

Inferred from expression pattern PubMed 15040835. Source: UniProtKB

epidermis morphogenesis

Inferred from mutant phenotype PubMed 20163410. Source: BHF-UCL

hair follicle development

Inferred from mutant phenotype Ref.8Ref.9. Source: BHF-UCL

hair follicle morphogenesis

Inferred from mutant phenotype PubMed 20163410. Source: BHF-UCL

neural crest cell differentiation

Inferred from electronic annotation. Source: Ensembl

neuron differentiation

Inferred from Biological aspect of Ancestor. Source: RefGenome

odontogenesis

Inferred from mutant phenotype Ref.8Ref.9. Source: BHF-UCL

positive regulation of gene expression

Inferred from electronic annotation. Source: Ensembl

regulation of odontogenesis of dentin-containing tooth

Inferred from electronic annotation. Source: Ensembl

sebaceous gland development

Inferred from mutant phenotype Ref.9. Source: BHF-UCL

skin development

Inferred from mutant phenotype Ref.8Ref.9. Source: BHF-UCL

tongue development

Inferred from mutant phenotype Ref.8Ref.9. Source: BHF-UCL

   Cellular_componentextracellular region

Traceable author statement. Source: Reactome

extracellular space

Inferred from Biological aspect of Ancestor. Source: RefGenome

proteinaceous extracellular matrix

Inferred from electronic annotation. Source: UniProtKB-SubCell

   Molecular_functionfrizzled binding

Inferred from Biological aspect of Ancestor. Source: RefGenome

Complete GO annotation...

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Signal peptide1 – 3535 Potential
Chain36 – 417382Protein Wnt-10a
PRO_0000041460

Amino acid modifications

Glycosylation1061N-linked (GlcNAc...) Potential
Glycosylation3631N-linked (GlcNAc...) Potential

Natural variations

Natural variant951E → K in STHAG4. Ref.12
Corresponds to variant rs318240759 [ dbSNP | Ensembl ].
VAR_069171
Natural variant1281R → Q in OODD and STHAG4. Ref.9 Ref.12
Corresponds to variant rs121908121 [ dbSNP | Ensembl ].
VAR_062510
Natural variant1431H → Y Probable disease-associated mutation found in a patient with hypohidrotic/anhidrotic ectodermal dysplasia. Ref.10
VAR_064837
Natural variant1451V → M Probable disease-associated mutation found in a patient with hypohidrotic/anhidrotic ectodermal dysplasia. Ref.10 Ref.12
VAR_064838
Natural variant1631R → W Found in a patient with hypohidrotic/anhidrotic ectodermal dysplasia. Ref.12
VAR_069172
Natural variant2171D → N in STHAG4. Ref.11
Corresponds to variant rs146902156 [ dbSNP | Ensembl ].
VAR_069173
Natural variant2281F → I in OODD and STHAG4; also found in a patient with hypohidrotic/anhidrotic ectodermal dysplasia. Ref.9 Ref.10 Ref.11
Corresponds to variant rs121908120 [ dbSNP | Ensembl ].
VAR_062511
Natural variant2771W → C Found in a patient with hypohidrotic/anhidrotic ectodermal dysplasia. Ref.12
VAR_069174
Natural variant3021P → T.
Corresponds to variant rs1057306 [ dbSNP | Ensembl ].
VAR_013239
Natural variant3061N → K Found in a patient with hypohidrotic/anhidrotic ectodermal dysplasia. Ref.12
VAR_069175
Natural variant3601R → C Probable disease-associated mutation found in a patient with an unclassified form of ectodermal dysplasia. Ref.10
VAR_064839

Experimental info

Sequence conflict521E → G in BAB55602. Ref.3
Sequence conflict521E → G in BAB14898. Ref.4

Sequences

Sequence LengthMass (Da)Tools
Q9GZT5 [UniParc].

Last modified March 1, 2001. Version 1.
Checksum: 868DF5146A895319

FASTA41746,444
        10         20         30         40         50         60 
MGSAHPRPWL RLRPQPQPRP ALWVLLFFLL LLAAAMPRSA PNDILDLRLP PEPVLNANTV 

        70         80         90        100        110        120 
CLTLPGLSRR QMEVCVRHPD VAASAIQGIQ IAIHECQHQF RDQRWNCSSL ETRNKIPYES 

       130        140        150        160        170        180 
PIFSRGFRES AFAYAIAAAG VVHAVSNACA LGKLKACGCD ASRRGDEEAF RRKLHRLQLD 

       190        200        210        220        230        240 
ALQRGKGLSH GVPEHPALPT ASPGLQDSWE WGGCSPDMGF GERFSKDFLD SREPHRDIHA 

       250        260        270        280        290        300 
RMRLHNNRVG RQAVMENMRR KCKCHGTSGS CQLKTCWQVT PEFRTVGALL RSRFHRATLI 

       310        320        330        340        350        360 
RPHNRNGGQL EPGPAGAPSP APGAPGPRRR ASPADLVYFE KSPDFCEREP RLDSAGTVGR 

       370        380        390        400        410 
LCNKSSAGSD GCGSMCCGRG HNILRQTRSE RCHCRFHWCC FVVCEECRIT EWVSVCK 

« Hide

References

« Hide 'large scale' references
[1]"Molecular cloning and characterization of six novel human WNT genes."
Testa T.T., Mossakowska D.E., Carter P.S., Hu E., Zhu Y., Kelsell D.P., Murdock P.R., Herrity N.C., Lewis C.J., Cross D.A., Culbert A.A., Reith A.D., Barnes M.R.
Submitted (AUG-2000) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [MRNA].
[2]"Genomic sequence of the Wnt6 gene and the Wnt10a gene from human 2q35."
Rump A., Hayes C., Brown S.D.M., Rosenthal A.
Submitted (OCT-2000) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
[3]"WNT10A and WNT6, clustered in human chromosome 2q35 region with head-to-tail manner, are strongly co-expressed in SW480 cells."
Kirikoshi H., Sekihara H., Katoh M.
Biochem. Biophys. Res. Commun. 283:798-805(2001) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA].
[4]"Complete sequencing and characterization of 21,243 full-length human cDNAs."
Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. expand/collapse author list , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
Tissue: Placenta and Thymus.
[5]"Generation and annotation of the DNA sequences of human chromosomes 2 and 4."
Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P., Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C., Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L., Du H. expand/collapse author list , Sun H., Bradshaw-Cordum H., Ali J., Carter J., Cordes M., Harris A., Isak A., van Brunt A., Nguyen C., Du F., Courtney L., Kalicki J., Ozersky P., Abbott S., Armstrong J., Belter E.A., Caruso L., Cedroni M., Cotton M., Davidson T., Desai A., Elliott G., Erb T., Fronick C., Gaige T., Haakenson W., Haglund K., Holmes A., Harkins R., Kim K., Kruchowski S.S., Strong C.M., Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K., McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N., Swearengen-Shahid S., Snider J., Strong J.T., Thompson J., Yoakum M., Leonard S., Pearman C., Trani L., Radionenko M., Waligorski J.E., Wang C., Rock S.M., Tin-Wollam A.-M., Maupin R., Latreille P., Wendl M.C., Yang S.-P., Pohl C., Wallis J.W., Spieth J., Bieri T.A., Berkowicz N., Nelson J.O., Osborne J., Ding L., Meyer R., Sabo A., Shotland Y., Sinha P., Wohldmann P.E., Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Jones T.A., She X., Ciccarelli F.D., Izaurralde E., Taylor J., Schmutz J., Myers R.M., Cox D.R., Huang X., McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C., Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S., Miller W., Eichler E.E., Bork P., Suyama M., Torrents D., Waterston R.H., Wilson R.K.
Nature 434:724-731(2005) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[6]Mural R.J., Istrail S., Sutton G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. expand/collapse author list , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C.
Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[7]"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
The MGC Project Team
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
Tissue: Brain.
[8]"Mutation in WNT10A is associated with an autosomal recessive ectodermal dysplasia: the odonto-onycho-dermal dysplasia."
Adaimy L., Chouery E., Megarbane H., Mroueh S., Delague V., Nicolas E., Belguith H., de Mazancourt P., Megarbane A.
Am. J. Hum. Genet. 81:821-828(2007) [PubMed] [Europe PMC] [Abstract]
Cited for: INVOLVEMENT IN OODD.
[9]"WNT10A mutations are a frequent cause of a broad spectrum of ectodermal dysplasias with sex-biased manifestation pattern in heterozygotes."
Bohring A., Stamm T., Spaich C., Haase C., Spree K., Hehr U., Hoffmann M., Ledig S., Sel S., Wieacker P., Ropke A.
Am. J. Hum. Genet. 85:97-105(2009) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS OODD GLN-128 AND ILE-228, INVOLVEMENT IN SSPS.
[10]"Only four genes (EDA1, EDAR, EDARADD, and WNT10A) account for 90% of hypohidrotic/anhidrotic ectodermal dysplasia cases."
Cluzeau C., Hadj-Rabia S., Jambou M., Mansour S., Guigue P., Masmoudi S., Bal E., Chassaing N., Vincent M.C., Viot G., Clauss F., Maniere M.C., Toupenay S., Le Merrer M., Lyonnet S., Cormier-Daire V., Amiel J., Faivre L. expand/collapse author list , de Prost Y., Munnich A., Bonnefont J.P., Bodemer C., Smahi A.
Hum. Mutat. 32:70-72(2011) [PubMed] [Europe PMC] [Abstract]
Cited for: INVOLVEMENT IN HYPOHIDROTIC/ANHIDROTIC ECTODERMAL DYSPLASIA, VARIANTS TYR-143; MET-145; ILE-228 AND CYS-360.
[11]"WNT10A and isolated hypodontia."
Kantaputra P., Sripathomsawat W.
Am. J. Med. Genet. A 155:1119-1122(2011) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS STHAG4 ASN-217 AND ILE-228.
[12]"Mutations in WNT10A are present in more than half of isolated hypodontia cases."
van den Boogaard M.J., Creton M., Bronkhorst Y., van der Hout A., Hennekam E., Lindhout D., Cune M., Ploos van Amstel H.K.
J. Med. Genet. 49:327-331(2012) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS STHAG4 LYS-95 AND GLN-128, VARIANTS MET-145; TRP-163; CYS-277 AND LYS-306.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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.
CCDSCCDS2426.1.
PIRJC7693.
RefSeqNP_079492.2. NM_025216.2.
UniGeneHs.121540.

3D structure databases

ProteinModelPortalQ9GZT5.
SMRQ9GZT5. Positions 82-408.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

IntActQ9GZT5. 1 interaction.
STRING9606.ENSP00000258411.

PTM databases

PhosphoSiteQ9GZT5.

Polymorphism databases

DMDM14424011.

Proteomic databases

PaxDbQ9GZT5.
PRIDEQ9GZT5.

Protocols and materials databases

DNASU80326.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000258411; ENSP00000258411; ENSG00000135925.
GeneID80326.
KEGGhsa:80326.
UCSCuc002vjd.1. human.

Organism-specific databases

CTD80326.
GeneCardsGC02P219745.
HGNCHGNC:13829. WNT10A.
HPAHPA013898.
MIM150400. phenotype.
224750. phenotype.
257980. phenotype.
606268. gene.
neXtProtNX_Q9GZT5.
Orphanet248. Autosomal recessive hypohidrotic ectodermal dysplasia.
2227. Hypodontia.
2721. Odonto-onycho-dermal dysplasia.
99798. Oligodontia.
50944. Schopf-Schulz-Passarge syndrome.
PharmGKBPA37817.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG240772.
HOGENOMHOG000039528.
HOVERGENHBG001595.
InParanoidQ9GZT5.
KOK01357.
OMAVPRSAPN.
OrthoDBEOG7C8GJ8.
PhylomeDBQ9GZT5.
TreeFamTF105310.

Enzyme and pathway databases

ReactomeREACT_111102. Signal Transduction.

Gene expression databases

ArrayExpressQ9GZT5.
BgeeQ9GZT5.
CleanExHS_WNT10A.
GenevestigatorQ9GZT5.

Family and domain databases

InterProIPR005817. Wnt.
IPR013302. Wnt10.
IPR018161. Wnt_CS.
[Graphical view]
PANTHERPTHR12027. PTHR12027. 1 hit.
PfamPF00110. wnt. 1 hit.
[Graphical view]
PRINTSPR01893. WNT10PROTEIN.
PR01349. WNTPROTEIN.
SMARTSM00097. WNT1. 1 hit.
[Graphical view]
PROSITEPS00246. WNT1. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GeneWikiWNT10A.
GenomeRNAi80326.
NextBio70863.
PROQ9GZT5.
SOURCESearch...

Entry information

Entry nameWN10A_HUMAN
AccessionPrimary (citable) accession number: Q9GZT5
Secondary accession number(s): Q53S44, Q96TA7, Q9H7S8
Entry history
Integrated into UniProtKB/Swiss-Prot: June 20, 2001
Last sequence update: March 1, 2001
Last modified: July 9, 2014
This is version 117 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 2

Human chromosome 2: entries, gene names and cross-references to MIM