ID   WNT7A_HUMAN             Reviewed;         349 AA.
AC   O00755; Q96H90; Q9Y560;
DT   01-NOV-1997, integrated into UniProtKB/Swiss-Prot.
DT   17-APR-2007, sequence version 2.
DT   25-JAN-2012, entry version 101.
DE   RecName: Full=Protein Wnt-7a;
DE   Flags: Precursor;
GN   Name=WNT7A;
OS   Homo sapiens (Human).
OC   Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
OC   Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
OC   Catarrhini; Hominidae; Homo.
OX   NCBI_TaxID=9606;
RN   [1]
RP   NUCLEOTIDE SEQUENCE [MRNA].
RC   TISSUE=Fetal brain;
RX   MEDLINE=97305141; PubMed=9161407; DOI=10.1016/S0378-1119(96)00808-6;
RA   Bui T.D., Lako M., Lejeune S., Curtis A.R.J., Strachan T., Lindsay S.,
RA   Harris A.L.;
RT   "Isolation of a full-length human WNT7A gene implicated in limb
RT   development and cell transformation, and mapping to chromosome 3p25.";
RL   Gene 189:25-29(1997).
RN   [2]
RP   NUCLEOTIDE SEQUENCE [MRNA].
RX   MEDLINE=97049094; PubMed=8893824;
RA   Ikegawa S., Kumano Y., Okui K., Fujiwara T., Takahashi E.,
RA   Nakamura Y.;
RT   "Isolation, characterization and chromosomal assignment of the human
RT   WNT7A gene.";
RL   Cytogenet. Cell Genet. 74:149-152(1996).
RN   [3]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA   Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L.,
RA   Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R.,
RA   Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V.,
RA   Hannenhalli S., Turner R., Yooseph S., Lu F., Nusskern D.R.,
RA   Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H.,
RA   Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G.,
RA   Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W.,
RA   Venter J.C.;
RL   Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases.
RN   [4]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC   TISSUE=Ovary;
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
RT   project: the Mammalian Gene Collection (MGC).";
RL   Genome Res. 14:2121-2127(2004).
RN   [5]
RP   NUCLEOTIDE SEQUENCE [MRNA] OF 204-327.
RC   TISSUE=Mammary gland;
RX   MEDLINE=94221588; PubMed=8168088;
RA   Huguet E.L., McMahon J.A., McMahon A.P., Bicknell R., Harris A.L.;
RT   "Differential expression of human Wnt genes 2, 3, 4, and 7B in human
RT   breast cell lines and normal and disease states of human breast
RT   tissue.";
RL   Cancer Res. 54:2615-2621(1994).
RN   [6]
RP   VARIANT FUHRS THR-109, VARIANT LPHAS CYS-292, CHARACTERIZATION OF
RP   VARIANT FUHRS THR-109, AND CHARACTERIZATION OF VARIANT LPHAS CYS-292.
RX   PubMed=16826533; DOI=10.1086/506332;
RA   Woods C.G., Stricker S., Seemann P., Stern R., Cox J., Sherridan E.,
RA   Roberts E., Springell K., Scott S., Karbani G., Sharif S.M.,
RA   Toomes C., Bond J., Kumar D., Al-Gazali L., Mundlos S.;
RT   "Mutations in WNT7A cause a range of limb malformations, including
RT   Fuhrmann syndrome and Al-Awadi/Raas-Rothschild/Schinzel phocomelia
RT   syndrome.";
RL   Am. J. Hum. Genet. 79:402-408(2006).
RN   [7]
RP   VARIANT LPHAS CYS-292.
RX   PubMed=17431918; DOI=10.1002/ajmg.a.31712;
RA   Lonardo F., Sabba G., Luquetti D.V., Monica M.D., Scarano G.;
RT   "Al-Awadi/Raas-Rothschild syndrome: two new cases and review.";
RL   Am. J. Med. Genet. A 143:3169-3174(2007).
RN   [8]
RP   VARIANT LPHAS TRP-222.
RX   PubMed=20949531; DOI=10.1002/ajmg.a.33673;
RA   Kantaputra P.N., Mundlos S., Sripathomsawat W.;
RT   "A novel homozygous Arg222Trp missense mutation in WNT7A in two
RT   sisters with severe Al-Awadi/Raas-Rothschild/Schinzel phocomelia
RT   syndrome.";
RL   Am. J. Med. Genet. A 152:2832-2837(2010).
RN   [9]
RP   VARIANT LPHAS LYS-72.
RX   PubMed=21271649; DOI=10.1002/ajmg.a.33793;
RA   Garavelli L., Wischmeijer A., Rosato S., Gelmini C., Reverberi S.,
RA   Sassi S., Ferrari A., Mari F., Zabel B., Lausch E., Unger S.,
RA   Superti-Furga A.;
RT   "Al-Awadi-Raas-Rothschild (limb/pelvis/uterus-hypoplasia/aplasia)
RT   syndrome and WNT7A mutations: genetic homogeneity and nosological
RT   delineation.";
RL   Am. J. Med. Genet. A 155:332-336(2011).
CC   -!- FUNCTION: Ligand for members of the frizzled family of seven
CC       transmembrane receptors. Probable developmental protein. Signaling
CC       by Wnt-7a allows sexually dimorphic development of the mullerian
CC       ducts (By similarity).
CC   -!- SUBUNIT: Interacts with PORCN (By similarity).
CC   -!- SUBCELLULAR LOCATION: Secreted, extracellular space, extracellular
CC       matrix.
CC   -!- TISSUE SPECIFICITY: Expression is restricted to placenta, kidney,
CC       testis, uterus, fetal lung, and fetal and adult brain.
CC   -!- DISEASE: Defects in WNT7A are the cause of limb pelvis hypoplasia
CC       aplasia syndrome (LPHAS) [MIM:276820]. A syndrome of severe
CC       deficiency of the extremities due to hypo- or aplasia of one or
CC       more long bones of one or more limbs. Pelvic manifestations
CC       include hip dislocation, hypoplastic iliac bone and aplastic pubic
CC       bones. Thoracic deformity, unusual facies and genitourinary
CC       anomalies can be present.
CC   -!- DISEASE: Defects in WNT7A are a cause of Fuhrmann syndrome (FUHRS)
CC       [MIM:228930]; also known as fibular aplasia or hypoplasia femoral
CC       bowing and poly- syn- and oligodactyly. Fuhrmann syndrome is a
CC       distinct limb-malformation disorder characterized also by various
CC       degrees of limb aplasia/hypoplasia and joint dysplasia.
CC   -!- SIMILARITY: Belongs to the Wnt family.
CC   -!- WEB RESOURCE: Name=GeneReviews;
CC       URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/WNT7A";
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DR   EMBL; U53476; AAC51319.1; -; mRNA.
DR   EMBL; D83175; BAA82509.1; -; mRNA.
DR   EMBL; CH471055; EAW64173.1; -; Genomic_DNA.
DR   EMBL; BC008811; AAH08811.1; -; mRNA.
DR   IPI; IPI00012990; -.
DR   RefSeq; NP_004616.2; NM_004625.3.
DR   UniGene; Hs.72290; -.
DR   ProteinModelPortal; O00755; -.
DR   IntAct; O00755; 1.
DR   MINT; MINT-1379349; -.
DR   STRING; O00755; -.
DR   PhosphoSite; O00755; -.
DR   PRIDE; O00755; -.
DR   Ensembl; ENST00000285018; ENSP00000285018; ENSG00000154764.
DR   GeneID; 7476; -.
DR   KEGG; hsa:7476; -.
DR   UCSC; uc003bye.1; human.
DR   CTD; 7476; -.
DR   GeneCards; GC03M013835; -.
DR   H-InvDB; HIX0003077; -.
DR   HGNC; HGNC:12786; WNT7A.
DR   HPA; CAB025894; -.
DR   HPA; HPA015719; -.
DR   MIM; 228930; phenotype.
DR   MIM; 276820; phenotype.
DR   MIM; 601570; gene.
DR   neXtProt; NX_O00755; -.
DR   Orphanet; 2854; Fuhrmann syndrome.
DR   Orphanet; 2879; Phocomelia, Schinzel type.
DR   PharmGKB; PA37387; -.
DR   eggNOG; prNOG10631; -.
DR   GeneTree; ENSGT00600000084153; -.
DR   HOGENOM; HBG446188; -.
DR   HOVERGEN; HBG001595; -.
DR   InParanoid; O00755; -.
DR   OMA; KTRRWIF; -.
DR   OrthoDB; EOG4GXFMZ; -.
DR   PhylomeDB; O00755; -.
DR   Reactome; REACT_111102; Signal Transduction.
DR   NextBio; 29284; -.
DR   ArrayExpress; O00755; -.
DR   Bgee; O00755; -.
DR   CleanEx; HS_WNT7A; -.
DR   Genevestigator; O00755; -.
DR   GermOnline; ENSG00000154764; Homo sapiens.
DR   GO; GO:0005615; C:extracellular space; IBA:RefGenome.
DR   GO; GO:0005886; C:plasma membrane; IBA:RefGenome.
DR   GO; GO:0005578; C:proteinaceous extracellular matrix; IEA:UniProtKB-SubCell.
DR   GO; GO:0005125; F:cytokine activity; IDA:BHF-UCL.
DR   GO; GO:0005109; F:frizzled binding; IBA:RefGenome.
DR   GO; GO:0048018; F:receptor agonist activity; IDA:BHF-UCL.
DR   GO; GO:0007257; P:activation of JUN kinase activity; IBA:RefGenome.
DR   GO; GO:0009952; P:anterior/posterior pattern specification; IBA:RefGenome.
DR   GO; GO:0060070; P:canonical Wnt receptor signaling pathway; IDA:BHF-UCL.
DR   GO; GO:0021846; P:cell proliferation in forebrain; IDA:BHF-UCL.
DR   GO; GO:0071560; P:cellular response to transforming growth factor beta stimulus; IEP:UniProtKB.
DR   GO; GO:0022009; P:central nervous system vasculogenesis; IBA:RefGenome.
DR   GO; GO:0021707; P:cerebellar granule cell differentiation; IBA:RefGenome.
DR   GO; GO:0009953; P:dorsal/ventral pattern formation; IBA:RefGenome.
DR   GO; GO:0000578; P:embryonic axis specification; IMP:BHF-UCL.
DR   GO; GO:0042733; P:embryonic digit morphogenesis; IMP:BHF-UCL.
DR   GO; GO:0035115; P:embryonic forelimb morphogenesis; IMP:BHF-UCL.
DR   GO; GO:0035116; P:embryonic hindlimb morphogenesis; IMP:BHF-UCL.
DR   GO; GO:0070307; P:lens fiber cell development; ISS:BHF-UCL.
DR   GO; GO:0050768; P:negative regulation of neurogenesis; IDA:BHF-UCL.
DR   GO; GO:0060021; P:palate development; IMP:BHF-UCL.
DR   GO; GO:0090263; P:positive regulation of canonical Wnt receptor signaling pathway; IBA:RefGenome.
DR   GO; GO:0060054; P:positive regulation of epithelial cell proliferation involved in wound healing; IDA:BHF-UCL.
DR   GO; GO:0046330; P:positive regulation of JNK cascade; IBA:RefGenome.
DR   GO; GO:0051965; P:positive regulation of synapse assembly; IDA:BHF-UCL.
DR   GO; GO:0045944; P:positive regulation of transcription from RNA polymerase II promoter; IDA:BHF-UCL.
DR   GO; GO:0031133; P:regulation of axon diameter; IBA:RefGenome.
DR   GO; GO:0014719; P:satellite cell activation; IBA:RefGenome.
DR   GO; GO:0014834; P:satellite cell maintenance involved in skeletal muscle regeneration; IBA:RefGenome.
DR   GO; GO:0007548; P:sex differentiation; TAS:ProtInc.
DR   GO; GO:0035659; P:Wnt receptor signaling pathway involved in wound healing, spreading of epidermal cells; IDA:BHF-UCL.
DR   InterPro; IPR005817; Wnt.
DR   InterPro; IPR013300; Wnt7.
DR   InterPro; IPR018161; Wnt_grthfactor_CS.
DR   KO; K00572; -.
DR   PANTHER; PTHR12027; Wnt; 1.
DR   Pfam; PF00110; wnt; 1.
DR   PRINTS; PR01891; WNT7PROTEIN.
DR   PRINTS; PR01349; WNTPROTEIN.
DR   SMART; SM00097; WNT1; 1.
DR   PROSITE; PS00246; WNT1; 1.
PE   1: Evidence at protein level;
KW   Complete proteome; Developmental protein; Disease mutation;
KW   Extracellular matrix; Glycoprotein; Reference proteome; Secreted;
KW   Signal; Wnt signaling pathway.
FT   SIGNAL        1     31       Potential.
FT   CHAIN        32    349       Protein Wnt-7a.
FT                                /FTId=PRO_0000041442.
FT   CARBOHYD     83     83       N-linked (GlcNAc...) (Potential).
FT   CARBOHYD    127    127       N-linked (GlcNAc...) (Potential).
FT   CARBOHYD    295    295       N-linked (GlcNAc...) (Potential).
FT   VARIANT      72     72       E -> K (in LPHAS).
FT                                /FTId=VAR_065765.
FT   VARIANT     109    109       A -> T (in FUHRS; retains activity that
FT                                is significant but not comparable to
FT                                wild-type activity).
FT                                /FTId=VAR_030673.
FT   VARIANT     222    222       R -> W (in LPHAS).
FT                                /FTId=VAR_064480.
FT   VARIANT     292    292       R -> C (in LPHAS; results in a loss of
FT                                function mutation with some residual
FT                                activity).
FT                                /FTId=VAR_030674.
FT   CONFLICT      6      6       R -> L (in Ref. 1; AAC51319).
FT   CONFLICT     14     14       L -> F (in Ref. 2; BAA82509).
FT   CONFLICT     20     20       Y -> C (in Ref. 1; AAC51319).
FT   CONFLICT     35     35       S -> T (in Ref. 1; AAC51319).
FT   CONFLICT    103    104       EA -> DG (in Ref. 1; AAC51319).
FT   CONFLICT    125    125       Q -> H (in Ref. 1; AAC51319).
FT   CONFLICT    280    280       E -> G (in Ref. 5).
FT   CONFLICT    329    329       H -> Q (in Ref. 2; BAA82509).
FT   CONFLICT    338    338       T -> K (in Ref. 2; BAA82509).
SQ   SEQUENCE   349 AA;  39005 MW;  259EF506CFCD7AB0 CRC64;
     MNRKARRCLG HLFLSLGMVY LRIGGFSSVV ALGASIICNK IPGLAPRQRA ICQSRPDAII
     VIGEGSQMGL DECQFQFRNG RWNCSALGER TVFGKELKVG SREAAFTYAI IAAGVAHAIT
     AACTQGNLSD CGCDKEKQGQ YHRDEGWKWG GCSADIRYGI GFAKVFVDAR EIKQNARTLM
     NLHNNEAGRK ILEENMKLEC KCHGVSGSCT TKTCWTTLPQ FRELGYVLKD KYNEAVHVEP
     VRASRNKRPT FLKIKKPLSY RKPMDTDLVY IEKSPNYCEE DPVTGSVGTQ GRACNKTAPQ
     ASGCDLMCCG RGYNTHQYAR VWQCNCKFHW CCYVKCNTCS ERTEMYTCK
//