WN10A_HUMAN
ID WN10A_HUMAN Reviewed; 417 AA.
AC Q9GZT5; Q53S44; Q96TA7; Q9H7S8;
DT 20-JUN-2001, integrated into UniProtKB/Swiss-Prot.
DT 01-MAR-2001, sequence version 1.
DT 03-AUG-2022, entry version 173.
DE RecName: Full=Protein Wnt-10a;
DE Flags: Precursor;
GN Name=WNT10A;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [MRNA].
RA Testa T.T., Mossakowska D.E., Carter P.S., Hu E., Zhu Y., Kelsell D.P.,
RA Murdock P.R., Herrity N.C., Lewis C.J., Cross D.A., Culbert A.A.,
RA Reith A.D., Barnes M.R.;
RT "Molecular cloning and characterization of six novel human WNT genes.";
RL Submitted (AUG-2000) to the EMBL/GenBank/DDBJ databases.
RN [2]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA].
RA Rump A., Hayes C., Brown S.D.M., Rosenthal A.;
RT "Genomic sequence of the Wnt6 gene and the Wnt10a gene from human 2q35.";
RL Submitted (OCT-2000) to the EMBL/GenBank/DDBJ databases.
RN [3]
RP NUCLEOTIDE SEQUENCE [MRNA].
RX PubMed=11350055; DOI=10.1006/bbrc.2001.4855;
RA Kirikoshi H., Sekihara H., Katoh M.;
RT "WNT10A and WNT6, clustered in human chromosome 2q35 region with head-to-
RT tail manner, are strongly co-expressed in SW480 cells.";
RL Biochem. Biophys. Res. Commun. 283:798-805(2001).
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Placenta, and Thymus;
RX PubMed=14702039; DOI=10.1038/ng1285;
RA Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
RA Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
RA Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
RA Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
RA Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H.,
RA Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M.,
RA Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K.,
RA Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T.,
RA Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M.,
RA Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S.,
RA Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H.,
RA Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K.,
RA Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N.,
RA Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
RA Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
RA Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
RA Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
RA Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y.,
RA Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K.,
RA Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T.,
RA Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T.,
RA Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y.,
RA Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H.,
RA Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y.,
RA Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H.,
RA Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O.,
RA Isogai T., Sugano S.;
RT "Complete sequencing and characterization of 21,243 full-length human
RT cDNAs.";
RL Nat. Genet. 36:40-45(2004).
RN [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=15815621; DOI=10.1038/nature03466;
RA Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P.,
RA Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C.,
RA Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L.,
RA Du H., Sun H., Bradshaw-Cordum H., Ali J., Carter J., Cordes M., Harris A.,
RA Isak A., van Brunt A., Nguyen C., Du F., Courtney L., Kalicki J.,
RA Ozersky P., Abbott S., Armstrong J., Belter E.A., Caruso L., Cedroni M.,
RA Cotton M., Davidson T., Desai A., Elliott G., Erb T., Fronick C., Gaige T.,
RA Haakenson W., Haglund K., Holmes A., Harkins R., Kim K., Kruchowski S.S.,
RA Strong C.M., Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K.,
RA McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C.,
RA Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N., Swearengen-Shahid S.,
RA Snider J., Strong J.T., Thompson J., Yoakum M., Leonard S., Pearman C.,
RA Trani L., Radionenko M., Waligorski J.E., Wang C., Rock S.M.,
RA Tin-Wollam A.-M., Maupin R., Latreille P., Wendl M.C., Yang S.-P., Pohl C.,
RA Wallis J.W., Spieth J., Bieri T.A., Berkowicz N., Nelson J.O., Osborne J.,
RA Ding L., Meyer R., Sabo A., Shotland Y., Sinha P., Wohldmann P.E.,
RA Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Jones T.A., She X.,
RA Ciccarelli F.D., Izaurralde E., Taylor J., Schmutz J., Myers R.M.,
RA Cox D.R., Huang X., McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C.,
RA Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S.,
RA Miller W., Eichler E.E., Bork P., Suyama M., Torrents D., Waterston R.H.,
RA Wilson R.K.;
RT "Generation and annotation of the DNA sequences of human chromosomes 2 and
RT 4.";
RL Nature 434:724-731(2005).
RN [6]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA Mural R.J., Istrail S., Sutton G., Florea L., Halpern A.L., Mobarry C.M.,
RA Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J.,
RA Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S.,
RA Turner R., Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H.,
RA Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K.,
RA Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D.,
RA Hunkapiller M.W., Myers E.W., Venter J.C.;
RL Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases.
RN [7]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Brain;
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [8]
RP INVOLVEMENT IN OODD, AND FUNCTION.
RX PubMed=17847007; DOI=10.1086/520064;
RA Adaimy L., Chouery E., Megarbane H., Mroueh S., Delague V., Nicolas E.,
RA Belguith H., de Mazancourt P., Megarbane A.;
RT "Mutation in WNT10A is associated with an autosomal recessive ectodermal
RT dysplasia: the odonto-onycho-dermal dysplasia.";
RL Am. J. Hum. Genet. 81:821-828(2007).
RN [9]
RP INTERACTION WITH AFM, AND SUBCELLULAR LOCATION.
RX PubMed=26902720; DOI=10.7554/elife.11621;
RA Mihara E., Hirai H., Yamamoto H., Tamura-Kawakami K., Matano M.,
RA Kikuchi A., Sato T., Takagi J.;
RT "Active and water-soluble form of lipidated Wnt protein is maintained by a
RT serum glycoprotein afamin/alpha-albumin.";
RL Elife 5:0-0(2016).
RN [10]
RP INVOLVEMENT IN STHAG4, AND VARIANT STHAG4 SER-213.
RX PubMed=27657131; DOI=10.3390/genes7090065;
RA Zeng B., Xiao X., Li S., Lu H., Lu J., Zhu L., Yu D., Zhao W.;
RT "Eight mutations of three genes (EDA, EDAR, and WNT10A) identified in seven
RT hypohidrotic ectodermal dysplasia patients.";
RL Genes (Basel) 7:0-0(2016).
RN [11]
RP VARIANTS OODD GLN-128 AND ILE-228, AND INVOLVEMENT IN SSPS.
RX PubMed=19559398; DOI=10.1016/j.ajhg.2009.06.001;
RA Bohring A., Stamm T., Spaich C., Haase C., Spree K., Hehr U., Hoffmann M.,
RA Ledig S., Sel S., Wieacker P., Ropke A.;
RT "WNT10A mutations are a frequent cause of a broad spectrum of ectodermal
RT dysplasias with sex-biased manifestation pattern in heterozygotes.";
RL Am. J. Hum. Genet. 85:97-105(2009).
RN [12]
RP INVOLVEMENT IN STHAG4, VARIANTS STHAG4 TYR-143; MET-145 AND ILE-228, AND
RP VARIANT CYS-360.
RX PubMed=20979233; DOI=10.1002/humu.21384;
RA Cluzeau C., Hadj-Rabia S., Jambou M., Mansour S., Guigue P., Masmoudi S.,
RA Bal E., Chassaing N., Vincent M.C., Viot G., Clauss F., Maniere M.C.,
RA Toupenay S., Le Merrer M., Lyonnet S., Cormier-Daire V., Amiel J.,
RA Faivre L., de Prost Y., Munnich A., Bonnefont J.P., Bodemer C., Smahi A.;
RT "Only four genes (EDA1, EDAR, EDARADD, and WNT10A) account for 90% of
RT hypohidrotic/anhidrotic ectodermal dysplasia cases.";
RL Hum. Mutat. 32:70-72(2011).
RN [13]
RP VARIANT OODD VAL-131.
RX PubMed=19471313; DOI=10.1038/ejhg.2009.81;
RA Nawaz S., Klar J., Wajid M., Aslam M., Tariq M., Schuster J., Baig S.M.,
RA Dahl N.;
RT "WNT10A missense mutation associated with a complete odonto-onycho-dermal
RT dysplasia syndrome.";
RL Eur. J. Hum. Genet. 17:1600-1605(2009).
RN [14]
RP VARIANTS STHAG4 ASN-217 AND ILE-228.
RX PubMed=21484994; DOI=10.1002/ajmg.a.33840;
RA Kantaputra P., Sripathomsawat W.;
RT "WNT10A and isolated hypodontia.";
RL Am. J. Med. Genet. A 155:1119-1122(2011).
RN [15]
RP VARIANTS SSPS THR-131 AND CYS-266.
RX PubMed=21143469; DOI=10.1111/j.1399-0004.2010.01513.x;
RA Castori M., Castiglia D., Brancati F., Foglio M., Heath S., Floriddia G.,
RA Madonna S., Fischer J., Zambruno G.;
RT "Two families confirm Schoepf-Schulz-Passarge syndrome as a discrete entity
RT within the WNT10A phenotypic spectrum.";
RL Clin. Genet. 79:92-95(2011).
RN [16]
RP VARIANTS STHAG4 LYS-95; GLN-128; MET-145; TRP-163; CYS-277 AND LYS-306.
RX PubMed=22581971; DOI=10.1136/jmedgenet-2012-100750;
RA van den Boogaard M.J., Creton M., Bronkhorst Y., van der Hout A.,
RA Hennekam E., Lindhout D., Cune M., Ploos van Amstel H.K.;
RT "Mutations in WNT10A are present in more than half of isolated hypodontia
RT cases.";
RL J. Med. Genet. 49:327-331(2012).
RN [17]
RP VARIANTS STHAG4 SER-126; SER-213; SER-266; ILE-357 AND CYS-379, AND
RP FUNCTION.
RX PubMed=23401279; DOI=10.1002/ajmg.a.35747;
RA Plaisancie J., Bailleul-Forestier I., Gaston V., Vaysse F., Lacombe D.,
RA Holder-Espinasse M., Abramowicz M., Coubes C., Plessis G., Faivre L.,
RA Demeer B., Vincent-Delorme C., Dollfus H., Sigaudy S., Guillen-Navarro E.,
RA Verloes A., Jonveaux P., Martin-Coignard D., Colin E., Bieth E., Calvas P.,
RA Chassaing N.;
RT "Mutations in WNT10A are frequently involved in oligodontia associated with
RT minor signs of ectodermal dysplasia.";
RL Am. J. Med. Genet. A 161A:671-678(2013).
RN [18]
RP VARIANTS STHAG4 TRP-70; 107-CYS--LYS-417 DEL; CYS-113; SER-213; CYS-223 AND
RP ILE-228.
RX PubMed=24449199; DOI=10.1002/ajmg.a.36243;
RA Arzoo P.S., Klar J., Bergendal B., Norderyd J., Dahl N.;
RT "WNT10A mutations account for 1/4 of population-based isolated oligodontia
RT and show phenotypic correlations.";
RL Am. J. Med. Genet. A 164A:353-359(2014).
RN [19]
RP VARIANTS STHAG4 CYS-171 AND SER-213.
RX PubMed=24311251; DOI=10.1002/ajmg.a.36280;
RA Kantaputra P., Kaewgahya M., Kantaputra W.;
RT "WNT10A mutations also associated with agenesis of the maxillary permanent
RT canines, a separate entity.";
RL Am. J. Med. Genet. A 164A:360-363(2014).
RN [20]
RP VARIANTS OODD SER-213 AND CYS-356.
RX PubMed=24458874; DOI=10.1002/ajmg.a.36388;
RA Kantaputra P., Kaewgahya M., Jotikasthira D., Kantaputra W.;
RT "Tricho-odonto-onycho-dermal dysplasia and WNT10A mutations.";
RL Am. J. Med. Genet. A 164A:1041-1048(2014).
RN [21]
RP VARIANTS STHAG4 SER-213 AND ILE-357, AND FUNCTION.
RX PubMed=29178643; DOI=10.1002/mgg3.332;
RA Yuan Q., Zhao M., Tandon B., Maili L., Liu X., Zhang A., Baugh E.H.,
RA Tran T., Silva R.M., Hecht J.T., Swindell E.C., Wagner D.S., Letra A.;
RT "Role of WNT10A in failure of tooth development in humans and zebrafish.";
RL Mol. Genet. Genomic Med. 5:730-741(2017).
RN [22]
RP INVOLVEMENT IN OODD, AND FUNCTION.
RX PubMed=28589954; DOI=10.1038/ncomms15397;
RA Xu M., Horrell J., Snitow M., Cui J., Gochnauer H., Syrett C.M.,
RA Kallish S., Seykora J.T., Liu F., Gaillard D., Katz J.P., Kaestner K.H.,
RA Levin B., Mansfield C., Douglas J.E., Cowart B.J., Tordoff M., Liu F.,
RA Zhu X., Barlow L.A., Rubin A.I., McGrath J.A., Morrisey E.E., Chu E.Y.,
RA Millar S.E.;
RT "WNT10A mutation causes ectodermal dysplasia by impairing progenitor cell
RT proliferation and KLF4-mediated differentiation.";
RL Nat. Commun. 8:15397-15397(2017).
CC -!- FUNCTION: Ligand for members of the frizzled family of seven
CC transmembrane receptors (Probable). Functions in the canonical
CC Wnt/beta-catenin signaling pathway (By similarity). Plays a role in
CC normal ectoderm development (PubMed:17847007, PubMed:28589954).
CC Required for normal tooth development (PubMed:17847007,
CC PubMed:29178643, PubMed:28589954). Required for normal postnatal
CC development and maintenance of tongue papillae and sweat ducts
CC (PubMed:28589954). Required for normal proliferation of basal cells in
CC tongue filiform papillae, plantar epithelium and sweat ducts. Required
CC for normal expression of keratins in tongue papillae (By similarity).
CC Required for normal expression of KRT9 in foot plant epithelium
CC (PubMed:28589954). Required for normal hair follicle function
CC (PubMed:28589954). {ECO:0000250|UniProtKB:P70701,
CC ECO:0000269|PubMed:17847007, ECO:0000269|PubMed:28589954,
CC ECO:0000269|PubMed:29178643, ECO:0000305}.
CC -!- SUBUNIT: Forms a soluble 1:1 complex with AFM; this prevents
CC oligomerization and is required for prolonged biological activity
CC (PubMed:26902720). The complex with AFM may represent the physiological
CC form in body fluids (PubMed:26902720).
CC -!- SUBCELLULAR LOCATION: Secreted, extracellular space, extracellular
CC matrix {ECO:0000305}. Secreted {ECO:0000269|PubMed:26902720}.
CC -!- PTM: Palmitoleoylation is required for efficient binding to frizzled
CC receptors. Depalmitoleoylation leads to Wnt signaling pathway
CC inhibition. {ECO:0000250|UniProtKB:P27467,
CC ECO:0000250|UniProtKB:P56704}.
CC -!- DISEASE: Odonto-onycho-dermal dysplasia (OODD) [MIM:257980]: A rare
CC autosomal recessive ectodermal dysplasia characterized by dry hair,
CC severe hypodontia, smooth tongue with marked reduction of fungiform and
CC filiform papillae, onychodysplasia, keratoderma and hyperhidrosis of
CC palms and soles, and hyperkeratosis of the skin.
CC {ECO:0000269|PubMed:17847007, ECO:0000269|PubMed:19471313,
CC ECO:0000269|PubMed:19559398, ECO:0000269|PubMed:24458874,
CC ECO:0000269|PubMed:28589954}. Note=The disease is caused by variants
CC affecting the gene represented in this entry.
CC -!- DISEASE: Schopf-Schulz-Passarge syndrome (SSPS) [MIM:224750]: A rare
CC ectodermal dysplasia, characterized chiefly by cysts of the eyelid
CC margins, palmoplantar keratoderma, hypodontia, hypotrichosis and nail
CC dystrophy. Multiple eyelid apocrine hidrocystomas are the hallmark of
CC this condition, although they usually appear in adulthood. The
CC concomitant presence of eccrine syringofibroadenoma in most patients
CC and of other adnexal skin tumors in some affected subjects indicates
CC that Schopf-Schulz-Passarge syndrome is a genodermatosis with skin
CC appendage neoplasms. {ECO:0000269|PubMed:19559398,
CC ECO:0000269|PubMed:21143469}. Note=The disease is caused by variants
CC affecting the gene represented in this entry.
CC -!- DISEASE: Tooth agenesis, selective, 4 (STHAG4) [MIM:150400]: A form of
CC selective tooth agenesis, a common anomaly characterized by the
CC congenital absence of one or more teeth. Selective tooth agenesis
CC without associated systemic disorders has sometimes been divided into 2
CC types: oligodontia, defined as agenesis of 6 or more permanent teeth,
CC and hypodontia, defined as agenesis of less than 6 teeth. The number in
CC both cases does not include absence of third molars (wisdom teeth). In
CC STHAG4, the upper lateral incisors are absent or peg-shaped. Some
CC STHAG4 patients manifest mild features of ectodermal dysplasia,
CC including sparse hair, sparse eyebrows, short eyelashes, abnormalities
CC of the nails, sweating anomalies and dry skin. STHAG4 inheritance is
CC autosomal dominant or autosomal recessive.
CC {ECO:0000269|PubMed:20979233, ECO:0000269|PubMed:21484994,
CC ECO:0000269|PubMed:22581971, ECO:0000269|PubMed:23401279,
CC ECO:0000269|PubMed:24311251, ECO:0000269|PubMed:24449199,
CC ECO:0000269|PubMed:27657131, ECO:0000269|PubMed:29178643}. Note=The
CC disease is caused by variants affecting the gene represented in this
CC entry.
CC -!- SIMILARITY: Belongs to the Wnt family. {ECO:0000305}.
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DR EMBL; AY009400; AAG38660.1; -; mRNA.
DR EMBL; AF315943; AAG45153.1; -; Genomic_DNA.
DR EMBL; AB059569; BAB55602.1; -; mRNA.
DR EMBL; AK024363; BAB14898.1; -; mRNA.
DR EMBL; AK315081; BAG37548.1; -; mRNA.
DR EMBL; AC073128; AAY24175.1; -; Genomic_DNA.
DR EMBL; CH471063; EAW70659.1; -; Genomic_DNA.
DR EMBL; BC052234; AAH52234.1; -; mRNA.
DR CCDS; CCDS2426.1; -.
DR PIR; JC7693; JC7693.
DR RefSeq; NP_079492.2; NM_025216.2.
DR AlphaFoldDB; Q9GZT5; -.
DR SMR; Q9GZT5; -.
DR BioGRID; 123238; 42.
DR IntAct; Q9GZT5; 2.
DR STRING; 9606.ENSP00000258411; -.
DR GlyGen; Q9GZT5; 3 sites, 1 O-linked glycan (1 site).
DR PhosphoSitePlus; Q9GZT5; -.
DR BioMuta; WNT10A; -.
DR DMDM; 14424011; -.
DR MassIVE; Q9GZT5; -.
DR PaxDb; Q9GZT5; -.
DR PeptideAtlas; Q9GZT5; -.
DR PRIDE; Q9GZT5; -.
DR ProteomicsDB; 80132; -.
DR Antibodypedia; 2463; 209 antibodies from 35 providers.
DR DNASU; 80326; -.
DR Ensembl; ENST00000258411.8; ENSP00000258411.3; ENSG00000135925.9.
DR GeneID; 80326; -.
DR KEGG; hsa:80326; -.
DR MANE-Select; ENST00000258411.8; ENSP00000258411.3; NM_025216.3; NP_079492.2.
DR UCSC; uc002vjd.2; human.
DR CTD; 80326; -.
DR DisGeNET; 80326; -.
DR GeneCards; WNT10A; -.
DR GeneReviews; WNT10A; -.
DR HGNC; HGNC:13829; WNT10A.
DR HPA; ENSG00000135925; Tissue enhanced (esophagus, skin).
DR MalaCards; WNT10A; -.
DR MIM; 150400; phenotype.
DR MIM; 224750; phenotype.
DR MIM; 257980; phenotype.
DR MIM; 606268; gene.
DR neXtProt; NX_Q9GZT5; -.
DR OpenTargets; ENSG00000135925; -.
DR Orphanet; 248; Autosomal recessive hypohidrotic ectodermal dysplasia.
DR Orphanet; 2227; NON RARE IN EUROPE: Hypodontia.
DR Orphanet; 2721; Odonto-onycho-dermal dysplasia.
DR Orphanet; 99798; Oligodontia.
DR Orphanet; 50944; Schoepf-Schulz-Passarge syndrome.
DR PharmGKB; PA37817; -.
DR VEuPathDB; HostDB:ENSG00000135925; -.
DR eggNOG; KOG3913; Eukaryota.
DR GeneTree; ENSGT00940000160299; -.
DR HOGENOM; CLU_033039_1_3_1; -.
DR InParanoid; Q9GZT5; -.
DR OMA; MKIYANQ; -.
DR OrthoDB; 1241694at2759; -.
DR PhylomeDB; Q9GZT5; -.
DR TreeFam; TF105310; -.
DR PathwayCommons; Q9GZT5; -.
DR Reactome; R-HSA-3238698; WNT ligand biogenesis and trafficking.
DR Reactome; R-HSA-373080; Class B/2 (Secretin family receptors).
DR SignaLink; Q9GZT5; -.
DR SIGNOR; Q9GZT5; -.
DR BioGRID-ORCS; 80326; 8 hits in 1073 CRISPR screens.
DR ChiTaRS; WNT10A; human.
DR GeneWiki; WNT10A; -.
DR GenomeRNAi; 80326; -.
DR Pharos; Q9GZT5; Tbio.
DR PRO; PR:Q9GZT5; -.
DR Proteomes; UP000005640; Chromosome 2.
DR RNAct; Q9GZT5; protein.
DR Bgee; ENSG00000135925; Expressed in lower esophagus mucosa and 96 other tissues.
DR ExpressionAtlas; Q9GZT5; baseline and differential.
DR Genevisible; Q9GZT5; HS.
DR GO; GO:0005576; C:extracellular region; TAS:Reactome.
DR GO; GO:0005615; C:extracellular space; IBA:GO_Central.
DR GO; GO:0005125; F:cytokine activity; IBA:GO_Central.
DR GO; GO:0005109; F:frizzled binding; IBA:GO_Central.
DR GO; GO:0048018; F:receptor ligand activity; IDA:WormBase.
DR GO; GO:0060070; P:canonical Wnt signaling pathway; IDA:WormBase.
DR GO; GO:0045165; P:cell fate commitment; IBA:GO_Central.
DR GO; GO:0071560; P:cellular response to transforming growth factor beta stimulus; IEP:UniProtKB.
DR GO; GO:0048730; P:epidermis morphogenesis; IMP:BHF-UCL.
DR GO; GO:0001942; P:hair follicle development; IMP:BHF-UCL.
DR GO; GO:0031069; P:hair follicle morphogenesis; IMP:BHF-UCL.
DR GO; GO:0014033; P:neural crest cell differentiation; IEA:Ensembl.
DR GO; GO:0030182; P:neuron differentiation; IBA:GO_Central.
DR GO; GO:0042476; P:odontogenesis; IMP:BHF-UCL.
DR GO; GO:0010628; P:positive regulation of gene expression; IEA:Ensembl.
DR GO; GO:0042487; P:regulation of odontogenesis of dentin-containing tooth; IEA:Ensembl.
DR GO; GO:0048733; P:sebaceous gland development; IMP:BHF-UCL.
DR GO; GO:0043588; P:skin development; IMP:BHF-UCL.
DR GO; GO:0043586; P:tongue development; IMP:BHF-UCL.
DR Gene3D; 3.30.2460.20; -; 1.
DR InterPro; IPR005817; Wnt.
DR InterPro; IPR013302; Wnt10.
DR InterPro; IPR043158; Wnt_C.
DR InterPro; IPR018161; Wnt_CS.
DR PANTHER; PTHR12027; PTHR12027; 1.
DR Pfam; PF00110; wnt; 1.
DR PRINTS; PR01893; WNT10PROTEIN.
DR PRINTS; PR01349; WNTPROTEIN.
DR SMART; SM00097; WNT1; 1.
DR PROSITE; PS00246; WNT1; 1.
PE 1: Evidence at protein level;
KW Developmental protein; Disease variant; Disulfide bond;
KW Ectodermal dysplasia; Extracellular matrix; Glycoprotein; Hypotrichosis;
KW Lipoprotein; Palmoplantar keratoderma; Phosphoprotein; Reference proteome;
KW Secreted; Signal; Wnt signaling pathway.
FT SIGNAL 1..35
FT /evidence="ECO:0000255"
FT CHAIN 36..417
FT /note="Protein Wnt-10a"
FT /id="PRO_0000041460"
FT REGION 300..331
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT MOD_RES 59
FT /note="Phosphothreonine"
FT /evidence="ECO:0000250|UniProtKB:O00744"
FT LIPID 268
FT /note="O-palmitoleoyl serine; by PORCN"
FT /evidence="ECO:0000250|UniProtKB:P56704"
FT CARBOHYD 106
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 363
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT DISULFID 96..107
FT /evidence="ECO:0000250|UniProtKB:P28026"
FT DISULFID 149..157
FT /evidence="ECO:0000250|UniProtKB:P28026"
FT DISULFID 159..214
FT /evidence="ECO:0000250|UniProtKB:P28026"
FT DISULFID 262..276
FT /evidence="ECO:0000250|UniProtKB:P28026"
FT DISULFID 264..271
FT /evidence="ECO:0000250|UniProtKB:P28026"
FT DISULFID 346..377
FT /evidence="ECO:0000250|UniProtKB:P28026"
FT DISULFID 362..372
FT /evidence="ECO:0000250|UniProtKB:P28026"
FT DISULFID 376..416
FT /evidence="ECO:0000250|UniProtKB:P28026"
FT DISULFID 392..407
FT /evidence="ECO:0000250|UniProtKB:P28026"
FT DISULFID 394..404
FT /evidence="ECO:0000250|UniProtKB:P28026"
FT DISULFID 399..400
FT /evidence="ECO:0000250|UniProtKB:P28026"
FT VARIANT 70
FT /note="R -> W (in STHAG4; unknown pathological
FT significance; dbSNP:rs146460077)"
FT /evidence="ECO:0000269|PubMed:24449199"
FT /id="VAR_079418"
FT VARIANT 95
FT /note="E -> K (in STHAG4; dbSNP:rs318240759)"
FT /evidence="ECO:0000269|PubMed:22581971"
FT /id="VAR_069171"
FT VARIANT 107..417
FT /note="Missing (in STHAG4)"
FT /evidence="ECO:0000269|PubMed:24449199"
FT /id="VAR_079419"
FT VARIANT 113
FT /note="R -> C (in STHAG4; unknown pathological
FT significance; dbSNP:rs141074983)"
FT /evidence="ECO:0000269|PubMed:24449199"
FT /id="VAR_079420"
FT VARIANT 126
FT /note="G -> S (in STHAG4; unknown pathological
FT significance; dbSNP:rs1245189224)"
FT /evidence="ECO:0000269|PubMed:23401279"
FT /id="VAR_077446"
FT VARIANT 128
FT /note="R -> Q (in OODD and STHAG4; dbSNP:rs121908121)"
FT /evidence="ECO:0000269|PubMed:19559398,
FT ECO:0000269|PubMed:22581971"
FT /id="VAR_062510"
FT VARIANT 131
FT /note="A -> T (in SSPS; dbSNP:rs372993798)"
FT /evidence="ECO:0000269|PubMed:21143469"
FT /id="VAR_077447"
FT VARIANT 131
FT /note="A -> V (in OODD)"
FT /evidence="ECO:0000269|PubMed:19471313"
FT /id="VAR_077448"
FT VARIANT 143
FT /note="H -> Y (in STHAG4; unknown pathological
FT significance; dbSNP:rs202024965)"
FT /evidence="ECO:0000269|PubMed:20979233"
FT /id="VAR_064837"
FT VARIANT 145
FT /note="V -> M (in STHAG4; unknown pathological
FT significance; dbSNP:rs543063101)"
FT /evidence="ECO:0000269|PubMed:20979233,
FT ECO:0000269|PubMed:22581971"
FT /id="VAR_064838"
FT VARIANT 163
FT /note="R -> W (in STHAG4; unknown pathological
FT significance; dbSNP:rs368280129)"
FT /evidence="ECO:0000269|PubMed:22581971"
FT /id="VAR_069172"
FT VARIANT 171
FT /note="R -> C (in STHAG4; unknown pathological
FT significance; dbSNP:rs116998555)"
FT /evidence="ECO:0000269|PubMed:24311251"
FT /id="VAR_077449"
FT VARIANT 213
FT /note="G -> S (in STHAG4 and OODD; unknown pathological
FT significance; dbSNP:rs147680216)"
FT /evidence="ECO:0000269|PubMed:23401279,
FT ECO:0000269|PubMed:24311251, ECO:0000269|PubMed:24449199,
FT ECO:0000269|PubMed:24458874, ECO:0000269|PubMed:27657131,
FT ECO:0000269|PubMed:29178643"
FT /id="VAR_077450"
FT VARIANT 217
FT /note="D -> N (in STHAG4; unknown pathological
FT significance; dbSNP:rs146902156)"
FT /evidence="ECO:0000269|PubMed:21484994"
FT /id="VAR_069173"
FT VARIANT 223
FT /note="R -> C (in STHAG4; unknown pathological
FT significance; dbSNP:rs149245953)"
FT /evidence="ECO:0000269|PubMed:24449199"
FT /id="VAR_079421"
FT VARIANT 228
FT /note="F -> I (in OODD and STHAG4; also found in patients
FT with an unclassified form of ectodermal dysplasia;
FT dbSNP:rs121908120)"
FT /evidence="ECO:0000269|PubMed:19559398,
FT ECO:0000269|PubMed:20979233, ECO:0000269|PubMed:21484994,
FT ECO:0000269|PubMed:24449199"
FT /id="VAR_062511"
FT VARIANT 266
FT /note="G -> C (in SSPS)"
FT /evidence="ECO:0000269|PubMed:21143469"
FT /id="VAR_077451"
FT VARIANT 266
FT /note="G -> S (in STHAG4; unknown pathological
FT significance; dbSNP:rs778752861)"
FT /evidence="ECO:0000269|PubMed:23401279"
FT /id="VAR_077452"
FT VARIANT 277
FT /note="W -> C (in STHAG4; dbSNP:rs1234227647)"
FT /evidence="ECO:0000269|PubMed:22581971"
FT /id="VAR_069174"
FT VARIANT 302
FT /note="P -> T (in dbSNP:rs1057306)"
FT /id="VAR_013239"
FT VARIANT 306
FT /note="N -> K (in STHAG4; unknown pathological
FT significance; dbSNP:rs745513263)"
FT /evidence="ECO:0000269|PubMed:22581971"
FT /id="VAR_069175"
FT VARIANT 356
FT /note="G -> C (in OODD; unknown pathological significance)"
FT /evidence="ECO:0000269|PubMed:24458874"
FT /id="VAR_077453"
FT VARIANT 357
FT /note="T -> I (in STHAG4; unknown pathological
FT significance; dbSNP:rs750190755)"
FT /evidence="ECO:0000269|PubMed:23401279,
FT ECO:0000269|PubMed:29178643"
FT /id="VAR_077454"
FT VARIANT 360
FT /note="R -> C (probable disease-associated variant found in
FT patients with an unclassified form of ectodermal
FT dysplasia)"
FT /evidence="ECO:0000269|PubMed:20979233"
FT /id="VAR_064839"
FT VARIANT 379
FT /note="R -> C (in STHAG4; unknown pathological
FT significance; dbSNP:rs1347556761)"
FT /evidence="ECO:0000269|PubMed:23401279"
FT /id="VAR_077455"
FT CONFLICT 52
FT /note="E -> G (in Ref. 3; BAB55602 and 4; BAB14898)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 417 AA; 46444 MW; 868DF5146A895319 CRC64;
MGSAHPRPWL RLRPQPQPRP ALWVLLFFLL LLAAAMPRSA PNDILDLRLP PEPVLNANTV
CLTLPGLSRR QMEVCVRHPD VAASAIQGIQ IAIHECQHQF RDQRWNCSSL ETRNKIPYES
PIFSRGFRES AFAYAIAAAG VVHAVSNACA LGKLKACGCD ASRRGDEEAF RRKLHRLQLD
ALQRGKGLSH GVPEHPALPT ASPGLQDSWE WGGCSPDMGF GERFSKDFLD SREPHRDIHA
RMRLHNNRVG RQAVMENMRR KCKCHGTSGS CQLKTCWQVT PEFRTVGALL RSRFHRATLI
RPHNRNGGQL EPGPAGAPSP APGAPGPRRR ASPADLVYFE KSPDFCEREP RLDSAGTVGR
LCNKSSAGSD GCGSMCCGRG HNILRQTRSE RCHCRFHWCC FVVCEECRIT EWVSVCK
