Q9GZT5 (WN10A_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Protein Wnt-10a

Gene names

Name:

WNT10A

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	417 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is further processed into a mature form.
Protein existence	Evidence 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	Secreted › extracellular space › extracellular 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 process	Wnt signaling pathway
Cellular component	Extracellular matrix Secreted
Coding sequence diversity	Polymorphism
Disease	Disease mutation Ectodermal dysplasia Hypotrichosis Palmoplantar keratoderma
Domain	Signal
Molecular function	Developmental protein
PTM	Glycoprotein
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	anterior/posterior pattern specification Inferred from Biological aspect of Ancestor. Source: RefGenome axis specification Inferred from Biological aspect of Ancestor. Source: RefGenome canonical Wnt receptor signaling pathway Inferred from Biological aspect of Ancestor. Source: RefGenome cellular response to transforming growth factor beta stimulus Inferred from expression pattern PubMed 15040835. Source: UniProtKB female gonad development Inferred from Biological aspect of Ancestor. Source: RefGenome hair follicle morphogenesis Inferred from mutant phenotype PubMed 20163410. Source: BHF-UCL neural crest cell differentiation Inferred from electronic annotation. Source: Compara odontogenesis Inferred from mutant phenotype Ref.8Ref.9. Source: BHF-UCL positive regulation of gene expression Inferred from electronic annotation. Source: Compara regulation of odontogenesis of dentin-containing tooth Inferred from Biological aspect of Ancestor. Source: RefGenome 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_component	extracellular space Inferred from Biological aspect of Ancestor. Source: RefGenome plasma membrane Inferred from Biological aspect of Ancestor. Source: RefGenome proteinaceous extracellular matrix Inferred from electronic annotation. Source: UniProtKB-SubCell
Molecular_function	G-protein coupled receptor binding Inferred from Biological aspect of Ancestor. Source: RefGenome
Complete GO annotation...

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Signal peptide	1 – 35	35	Potential
	Chain	36 – 417	382	Protein Wnt-10a		PRO_0000041460
Amino acid modifications
	Glycosylation	106	1	N-linked (GlcNAc...) Potential
	Glycosylation	363	1	N-linked (GlcNAc...) Potential
Natural variations
	Natural variant	95	1	E → K in STHAG4. Ref.12		VAR_069171
	Natural variant	128	1	R → Q in OODD and STHAG4. Ref.9 Ref.12		VAR_062510
	Natural variant	143	1	H → Y Probable disease-associated mutation found in a patient with hypohidrotic/anhidrotic ectodermal dysplasia. Ref.10		VAR_064837
	Natural variant	145	1	V → M Probable disease-associated mutation found in a patient with hypohidrotic/anhidrotic ectodermal dysplasia. Ref.10 Ref.12		VAR_064838
	Natural variant	163	1	R → W Found in a patient with hypohidrotic/anhidrotic ectodermal dysplasia. Ref.12		VAR_069172
	Natural variant	217	1	D → N in STHAG4. Ref.11		VAR_069173
	Natural variant	228	1	F → I in OODD and STHAG4; also found in a patient with hypohidrotic/anhidrotic ectodermal dysplasia. Ref.9 Ref.10 Ref.11		VAR_062511
	Natural variant	277	1	W → C Found in a patient with hypohidrotic/anhidrotic ectodermal dysplasia. Ref.12		VAR_069174
	Natural variant	302	1	P → T. Corresponds to variant rs1057306 [ dbSNP | Ensembl ].		VAR_013239
	Natural variant	306	1	N → K Found in a patient with hypohidrotic/anhidrotic ectodermal dysplasia. Ref.12		VAR_069175
	Natural variant	360	1	R → C Probable disease-associated mutation found in a patient with an unclassified form of ectodermal dysplasia. Ref.10		VAR_064839
Experimental info
	Sequence conflict	52	1	E → G in BAB55602. Ref.3
	Sequence conflict	52	1	E → G in BAB14898. Ref.4

Sequences

	Sequence		Length	Mass (Da)
	Q9GZT5 [UniParc]. Last modified March 1, 2001. Version 1. Checksum: 868DF5146A895319	FASTA	417	46,444
	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

References

	« Hide 'large scale' referencesShow '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. , 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. , 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. , 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. , 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.
IPI	IPI00026370.
PIR	JC7693.
RefSeq	NP_079492.2. NM_025216.2.
UniGene	Hs.121540.
3D structure databases
ProteinModelPortal	Q9GZT5.
ModBase	Search...
Protein-protein interaction databases
IntAct	Q9GZT5. 1 interaction.
STRING	9606.ENSP00000258411.
PTM databases
PhosphoSite	Q9GZT5.
Polymorphism databases
DMDM	14424011.
Proteomic databases
PaxDb	Q9GZT5.
PRIDE	Q9GZT5.
Protocols and materials databases
DNASU	80326.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000258411; ENSP00000258411; ENSG00000135925.
GeneID	80326.
KEGG	hsa:80326.
UCSC	uc002vjd.1. human.
Organism-specific databases
CTD	80326.
GeneCards	GC02P219745.
HGNC	HGNC:13829. WNT10A.
HPA	HPA013898.
MIM	150400. phenotype. 224750. phenotype. 257980. phenotype. 606268. gene.
neXtProt	NX_Q9GZT5.
Orphanet	2227. Hypodontia. 2721. Odonto-onycho-dermal dysplasia. 50944. Schopf-Schulz-Passarge syndrome.
PharmGKB	PA37817.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG240772.
HOGENOM	HOG000039528.
HOVERGEN	HBG001595.
InParanoid	Q9GZT5.
KO	K01357.
OMA	VPRSAPN.
OrthoDB	EOG4B8JD8.
PhylomeDB	Q9GZT5.
Enzyme and pathway databases
Reactome	REACT_111102. Signal Transduction.
Gene expression databases
ArrayExpress	Q9GZT5.
Bgee	Q9GZT5.
CleanEx	HS_WNT10A.
Genevestigator	Q9GZT5.
GermOnline	ENSG00000135925. Homo sapiens.
Family and domain databases
InterPro	IPR005817. Wnt. IPR013302. Wnt10. IPR018161. Wnt_CS. [Graphical view]
PANTHER	PTHR12027. PTHR12027. 1 hit. PTHR12027:SF11. PTHR12027:SF11. 1 hit.
Pfam	PF00110. wnt. 1 hit. [Graphical view]
PRINTS	PR01893. WNT10PROTEIN. PR01349. WNTPROTEIN.
SMART	SM00097. WNT1. 1 hit. [Graphical view]
PROSITE	PS00246. WNT1. 1 hit. [Graphical view]
ProtoNet	Search...
Other
GenomeRNAi	80326.
NextBio	70863.
SOURCE	Search...

Entry information

Entry name

WN10A_HUMAN

Accession

Primary (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:	May 1, 2013
This is version 106 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any 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.