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P56705

- WNT4_HUMAN

UniProt

P56705 - WNT4_HUMAN

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Protein

Protein Wnt-4

Gene

WNT4

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli

Functioni

Ligand for members of the frizzled family of seven transmembrane receptors. Probable developmental protein. May be a signaling molecule which affects the development of discrete regions of tissues. Is likely to signal over only few cell diameters (By similarity). Overexpression may be associated with abnormal proliferation in human breast tissue.By similarity

GO - Molecular functioni

  1. frizzled binding Source: RefGenome
  2. receptor agonist activity Source: BHF-UCL
  3. transcription corepressor activity Source: UniProtKB

GO - Biological processi

  1. adrenal gland development Source: UniProtKB
  2. androgen biosynthetic process Source: UniProtKB
  3. branching involved in ureteric bud morphogenesis Source: Ensembl
  4. canonical Wnt signaling pathway Source: UniProtKB
  5. cell fate commitment Source: RefGenome
  6. cellular response to starvation Source: Ensembl
  7. cellular response to transforming growth factor beta stimulus Source: UniProtKB
  8. embryonic epithelial tube formation Source: Ensembl
  9. epithelial to mesenchymal transition Source: UniProtKB
  10. establishment of protein localization to plasma membrane Source: UniProtKB
  11. female gonad development Source: UniProtKB
  12. female sex determination Source: UniProtKB
  13. immature T cell proliferation in thymus Source: Ensembl
  14. kidney development Source: UniProtKB
  15. liver development Source: UniProtKB
  16. male gonad development Source: UniProtKB
  17. mammary gland epithelium development Source: UniProtKB
  18. mesenchymal to epithelial transition Source: Ensembl
  19. metanephric mesenchymal cell differentiation Source: UniProtKB
  20. metanephric nephron morphogenesis Source: Ensembl
  21. metanephric tubule formation Source: Ensembl
  22. negative regulation of apoptotic signaling pathway Source: Ensembl
  23. negative regulation of canonical Wnt signaling pathway Source: UniProtKB
  24. negative regulation of cell differentiation Source: Ensembl
  25. negative regulation of cell migration Source: Ensembl
  26. negative regulation of fibroblast growth factor receptor signaling pathway Source: Ensembl
  27. negative regulation of gene expression Source: UniProtKB
  28. negative regulation of male gonad development Source: UniProtKB
  29. negative regulation of steroid biosynthetic process Source: UniProtKB
  30. negative regulation of testicular blood vessel morphogenesis Source: UniProtKB
  31. negative regulation of testosterone biosynthetic process Source: UniProtKB
  32. negative regulation of transcription, DNA-templated Source: UniProtKB
  33. negative regulation of wound healing Source: Ensembl
  34. neuron differentiation Source: RefGenome
  35. non-canonical Wnt signaling pathway via MAPK cascade Source: BHF-UCL
  36. oocyte development Source: Ensembl
  37. paramesonephric duct development Source: UniProtKB
  38. positive regulation of aldosterone biosynthetic process Source: UniProtKB
  39. positive regulation of bone mineralization Source: BHF-UCL
  40. positive regulation of canonical Wnt signaling pathway Source: UniProtKB
  41. positive regulation of collagen biosynthetic process Source: BHF-UCL
  42. positive regulation of cortisol biosynthetic process Source: UniProtKB
  43. positive regulation of dermatome development Source: BHF-UCL
  44. positive regulation of focal adhesion assembly Source: Ensembl
  45. positive regulation of meiosis Source: Ensembl
  46. positive regulation of osteoblast differentiation Source: BHF-UCL
  47. positive regulation of Rho GTPase activity Source: Ensembl
  48. positive regulation of stress fiber assembly Source: Ensembl
  49. positive regulation of transcription, DNA-templated Source: UniProtKB
  50. protein palmitoylation Source: UniProtKB
  51. regulation of cell-cell adhesion Source: Ensembl
  52. renal vesicle formation Source: Ensembl
  53. renal vesicle induction Source: Ensembl
  54. smooth muscle cell differentiation Source: Ensembl
  55. somatotropin secreting cell differentiation Source: Ensembl
  56. tertiary branching involved in mammary gland duct morphogenesis Source: Ensembl
  57. thyroid-stimulating hormone-secreting cell differentiation Source: Ensembl
Complete GO annotation...

Keywords - Molecular functioni

Developmental protein

Keywords - Biological processi

Wnt signaling pathway

Enzyme and pathway databases

ReactomeiREACT_163710. WNT ligand biogenesis and trafficking.
REACT_172581. PCP/CE pathway.
REACT_18372. Class B/2 (Secretin family receptors).
REACT_200643. negative regulation of TCF-dependent signaling by WNT ligand antagonists.
SignaLinkiP56705.

Names & Taxonomyi

Protein namesi
Recommended name:
Protein Wnt-4
Gene namesi
Name:WNT4
ORF Names:UNQ426/PRO864
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 1

Organism-specific databases

HGNCiHGNC:12783. WNT4.

Subcellular locationi

GO - Cellular componenti

  1. cell surface Source: UniProtKB
  2. cytoplasm Source: UniProtKB
  3. endoplasmic reticulum lumen Source: Reactome
  4. extracellular region Source: Reactome
  5. extracellular space Source: UniProtKB
  6. Golgi lumen Source: Reactome
  7. plasma membrane Source: Reactome
  8. proteinaceous extracellular matrix Source: UniProtKB-KW
Complete GO annotation...

Keywords - Cellular componenti

Extracellular matrix, Secreted

Pathology & Biotechi

Involvement in diseasei

46,XX sex reversal with dysgenesis of kidneys, adrenals, and lungs (SERKAL) [MIM:611812]: A disease characterized by the association of female-to-male sex reversal with dysgenesis of kidneys, adrenals, and lungs.1 Publication
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti114 – 1141A → V in SERKAL; reduced transcript levels. 1 Publication
VAR_043499
Mullerian aplasia and hyperandrogenism (MULLAPL) [MIM:158330]: A disorder of sex development. Affected females manifest dysgenesis of Mullerian duct derivatives absent or rudimentary uterus and vagina, functional ovaries, primary amenorrhea, hyperandrogenism and hirsutism.3 Publications
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti12 – 121L → P in MULLAPL; unable to suppress steroidogenesis in an ovarian adenocarcinoma cell line resulting in increased androgen production. 1 Publication
VAR_043497
Natural varianti83 – 831R → C in MULLAPL; with androgen excess, normal kidney size and location; unable to suppress expression of steroidogenic enzymes in ovarian; impairs protein secretion. 1 Publication
VAR_043498
Natural varianti216 – 2161E → G in MULLAPL; unable to suppress expression of steroidogenic enzymes in ovarian and adrenal cell lines. 1 Publication
VAR_034703

Keywords - Diseasei

Disease mutation

Organism-specific databases

MIMi158330. phenotype.
611812. phenotype.
Orphaneti247768. Atypical Mayer-Rokitansky-Kuster-Hauser syndrome.
139466. SERKAL syndrome.
PharmGKBiPA37384.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Signal peptidei1 – 2222Sequence AnalysisAdd
BLAST
Chaini23 – 351329Protein Wnt-4PRO_0000041421Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Disulfide bondi78 ↔ 89By similarity
Glycosylationi88 – 881N-linked (GlcNAc...)Sequence Analysis
Disulfide bondi128 ↔ 136By similarity
Disulfide bondi138 ↔ 155By similarity
Disulfide bondi206 ↔ 220By similarity
Disulfide bondi208 ↔ 215By similarity
Lipidationi212 – 2121O-palmitoyl serine; by PORCNBy similarity
Disulfide bondi296 ↔ 311By similarity
Glycosylationi297 – 2971N-linked (GlcNAc...)Sequence Analysis
Disulfide bondi326 ↔ 341By similarity
Disulfide bondi328 ↔ 338By similarity
Disulfide bondi333 ↔ 334By similarity

Post-translational modificationi

Palmitoylation at Ser-212 is required for efficient binding to frizzled receptors. Palmitoylation is necessary for proper trafficking to cell surface (By similarity).By similarity

Keywords - PTMi

Disulfide bond, Glycoprotein, Lipoprotein, Palmitate

Proteomic databases

PaxDbiP56705.
PRIDEiP56705.

PTM databases

PhosphoSiteiP56705.

Expressioni

Gene expression databases

BgeeiP56705.
CleanExiHS_WNT4.
ExpressionAtlasiP56705. baseline and differential.
GenevestigatoriP56705.

Organism-specific databases

HPAiHPA011397.

Interactioni

Subunit structurei

Interacts with PORCN.By similarity

Protein-protein interaction databases

BioGridi119939. 25 interactions.
IntActiP56705. 1 interaction.
STRINGi9606.ENSP00000290167.

Structurei

3D structure databases

ProteinModelPortaliP56705.
SMRiP56705. Positions 63-280.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the Wnt family.Curated

Keywords - Domaini

Signal

Phylogenomic databases

eggNOGiNOG284879.
GeneTreeiENSGT00760000118943.
HOGENOMiHOG000039529.
HOVERGENiHBG001595.
InParanoidiP56705.
KOiK00408.
OMAiQVQICKR.
PhylomeDBiP56705.
TreeFamiTF105310.

Family and domain databases

InterProiIPR005817. Wnt.
IPR009142. Wnt4.
IPR018161. Wnt_CS.
[Graphical view]
PANTHERiPTHR12027. PTHR12027. 1 hit.
PfamiPF00110. wnt. 1 hit.
[Graphical view]
PRINTSiPR01844. WNT4PROTEIN.
PR01349. WNTPROTEIN.
SMARTiSM00097. WNT1. 1 hit.
[Graphical view]
PROSITEiPS00246. WNT1. 1 hit.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 2 isoformsi produced by alternative splicing. Align

Isoform 1 (identifier: P56705-1) [UniParc]FASTAAdd to Basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MSPRSCLRSL RLLVFAVFSA AASNWLYLAK LSSVGSISEE ETCEKLKGLI
60 70 80 90 100
QRQVQMCKRN LEVMDSVRRG AQLAIEECQY QFRNRRWNCS TLDSLPVFGK
110 120 130 140 150
VVTQGTREAA FVYAISSAGV AFAVTRACSS GELEKCGCDR TVHGVSPQGF
160 170 180 190 200
QWSGCSDNIA YGVAFSQSFV DVRERSKGAS SSRALMNLHN NEAGRKAILT
210 220 230 240 250
HMRVECKCHG VSGSCEVKTC WRAVPPFRQV GHALKEKFDG ATEVEPRRVG
260 270 280 290 300
SSRALVPRNA QFKPHTDEDL VYLEPSPDFC EQDMRSGVLG TRGRTCNKTS
310 320 330 340 350
KAIDGCELLC CGRGFHTAQV ELAERCSCKF HWCCFVKCRQ CQRLVELHTC

R
Length:351
Mass (Da):39,052
Last modified:May 10, 2002 - v4
Checksum:i465D08755C992DA8
GO
Isoform 2 (identifier: P56705-2) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-55: Missing.

Note: No experimental confirmation available.

Show »
Length:296
Mass (Da):32,954
Checksum:i546801ED1CF863F1
GO

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti106 – 1061T → I in AAG38658. 1 PublicationCurated
Sequence conflicti111 – 1111F → L in AAG38658. 1 PublicationCurated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti12 – 121L → P in MULLAPL; unable to suppress steroidogenesis in an ovarian adenocarcinoma cell line resulting in increased androgen production. 1 Publication
VAR_043497
Natural varianti83 – 831R → C in MULLAPL; with androgen excess, normal kidney size and location; unable to suppress expression of steroidogenic enzymes in ovarian; impairs protein secretion. 1 Publication
VAR_043498
Natural varianti114 – 1141A → V in SERKAL; reduced transcript levels. 1 Publication
VAR_043499
Natural varianti216 – 2161E → G in MULLAPL; unable to suppress expression of steroidogenic enzymes in ovarian and adrenal cell lines. 1 Publication
VAR_034703
Natural varianti277 – 2771P → L.
Corresponds to variant rs34228276 [ dbSNP | Ensembl ].
VAR_052955

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 5555Missing in isoform 2. 1 PublicationVSP_054017Add
BLAST

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY009398 mRNA. Translation: AAG38658.1.
AF316543 mRNA. Translation: AAK51699.1.
AY358947 mRNA. Translation: AAQ89306.1.
AK296058 mRNA. Translation: BAG58821.1.
BT020125 mRNA. Translation: AAV38928.1.
AL445253, AL031281 Genomic DNA. Translation: CAI22251.1.
AL031281, AL445253 Genomic DNA. Translation: CAI19848.1.
BC057781 mRNA. Translation: AAH57781.1.
AF335591 Genomic DNA. Translation: AAK25765.1.
AH010731 Genomic DNA. Translation: AAK50427.1.
CCDSiCCDS223.1. [P56705-1]
RefSeqiNP_110388.2. NM_030761.4. [P56705-1]
XP_005245954.1. XM_005245897.2. [P56705-2]
UniGeneiHs.25766.

Genome annotation databases

EnsembliENST00000290167; ENSP00000290167; ENSG00000162552. [P56705-1]
GeneIDi54361.
KEGGihsa:54361.
UCSCiuc001bfs.4. human. [P56705-1]

Polymorphism databases

DMDMi20532425.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY009398 mRNA. Translation: AAG38658.1 .
AF316543 mRNA. Translation: AAK51699.1 .
AY358947 mRNA. Translation: AAQ89306.1 .
AK296058 mRNA. Translation: BAG58821.1 .
BT020125 mRNA. Translation: AAV38928.1 .
AL445253 , AL031281 Genomic DNA. Translation: CAI22251.1 .
AL031281 , AL445253 Genomic DNA. Translation: CAI19848.1 .
BC057781 mRNA. Translation: AAH57781.1 .
AF335591 Genomic DNA. Translation: AAK25765.1 .
AH010731 Genomic DNA. Translation: AAK50427.1 .
CCDSi CCDS223.1. [P56705-1 ]
RefSeqi NP_110388.2. NM_030761.4. [P56705-1 ]
XP_005245954.1. XM_005245897.2. [P56705-2 ]
UniGenei Hs.25766.

3D structure databases

ProteinModelPortali P56705.
SMRi P56705. Positions 63-280.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 119939. 25 interactions.
IntActi P56705. 1 interaction.
STRINGi 9606.ENSP00000290167.

PTM databases

PhosphoSitei P56705.

Polymorphism databases

DMDMi 20532425.

Proteomic databases

PaxDbi P56705.
PRIDEi P56705.

Protocols and materials databases

DNASUi 54361.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000290167 ; ENSP00000290167 ; ENSG00000162552 . [P56705-1 ]
GeneIDi 54361.
KEGGi hsa:54361.
UCSCi uc001bfs.4. human. [P56705-1 ]

Organism-specific databases

CTDi 54361.
GeneCardsi GC01M022443.
GeneReviewsi WNT4.
HGNCi HGNC:12783. WNT4.
HPAi HPA011397.
MIMi 158330. phenotype.
603490. gene.
611812. phenotype.
neXtProti NX_P56705.
Orphaneti 247768. Atypical Mayer-Rokitansky-Kuster-Hauser syndrome.
139466. SERKAL syndrome.
PharmGKBi PA37384.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG284879.
GeneTreei ENSGT00760000118943.
HOGENOMi HOG000039529.
HOVERGENi HBG001595.
InParanoidi P56705.
KOi K00408.
OMAi QVQICKR.
PhylomeDBi P56705.
TreeFami TF105310.

Enzyme and pathway databases

Reactomei REACT_163710. WNT ligand biogenesis and trafficking.
REACT_172581. PCP/CE pathway.
REACT_18372. Class B/2 (Secretin family receptors).
REACT_200643. negative regulation of TCF-dependent signaling by WNT ligand antagonists.
SignaLinki P56705.

Miscellaneous databases

GeneWikii WNT4.
GenomeRNAii 54361.
NextBioi 35472522.
PROi P56705.
SOURCEi Search...

Gene expression databases

Bgeei P56705.
CleanExi HS_WNT4.
ExpressionAtlasi P56705. baseline and differential.
Genevestigatori P56705.

Family and domain databases

InterProi IPR005817. Wnt.
IPR009142. Wnt4.
IPR018161. Wnt_CS.
[Graphical view ]
PANTHERi PTHR12027. PTHR12027. 1 hit.
Pfami PF00110. wnt. 1 hit.
[Graphical view ]
PRINTSi PR01844. WNT4PROTEIN.
PR01349. WNTPROTEIN.
SMARTi SM00097. WNT1. 1 hit.
[Graphical view ]
PROSITEi PS00246. WNT1. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  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] (ISOFORM 1).
  2. "Up-regulation of wnt-4 signaling and dosage-sensitive sex reversal in humans."
    Jordan B.K., Mohammed M., Ching S.T., Delot E., Chen X.N., Dewing P., Swain A., Rao P.N., Elejalde B.R., Vilain E.
    Am. J. Hum. Genet. 68:1102-1109(2001) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
  3. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
  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] (ISOFORM 2).
    Tissue: Subthalamic nucleus.
  5. "Cloning of human full-length CDSs in BD Creator(TM) system donor vector."
    Kalnine N., Chen X., Rolfs A., Halleck A., Hines L., Eisenstein S., Koundinya M., Raphael J., Moreira D., Kelley T., LaBaer J., Lin Y., Phelan M., Farmer A.
    Submitted (OCT-2004) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
  6. "The DNA sequence and biological annotation of human chromosome 1."
    Gregory S.G., Barlow K.F., McLay K.E., Kaul R., Swarbreck D., Dunham A., Scott C.E., Howe K.L., Woodfine K., Spencer C.C.A., Jones M.C., Gillson C., Searle S., Zhou Y., Kokocinski F., McDonald L., Evans R., Phillips K.
    , Atkinson A., Cooper R., Jones C., Hall R.E., Andrews T.D., Lloyd C., Ainscough R., Almeida J.P., Ambrose K.D., Anderson F., Andrew R.W., Ashwell R.I.S., Aubin K., Babbage A.K., Bagguley C.L., Bailey J., Beasley H., Bethel G., Bird C.P., Bray-Allen S., Brown J.Y., Brown A.J., Buckley D., Burton J., Bye J., Carder C., Chapman J.C., Clark S.Y., Clarke G., Clee C., Cobley V., Collier R.E., Corby N., Coville G.J., Davies J., Deadman R., Dunn M., Earthrowl M., Ellington A.G., Errington H., Frankish A., Frankland J., French L., Garner P., Garnett J., Gay L., Ghori M.R.J., Gibson R., Gilby L.M., Gillett W., Glithero R.J., Grafham D.V., Griffiths C., Griffiths-Jones S., Grocock R., Hammond S., Harrison E.S.I., Hart E., Haugen E., Heath P.D., Holmes S., Holt K., Howden P.J., Hunt A.R., Hunt S.E., Hunter G., Isherwood J., James R., Johnson C., Johnson D., Joy A., Kay M., Kershaw J.K., Kibukawa M., Kimberley A.M., King A., Knights A.J., Lad H., Laird G., Lawlor S., Leongamornlert D.A., Lloyd D.M., Loveland J., Lovell J., Lush M.J., Lyne R., Martin S., Mashreghi-Mohammadi M., Matthews L., Matthews N.S.W., McLaren S., Milne S., Mistry S., Moore M.J.F., Nickerson T., O'Dell C.N., Oliver K., Palmeiri A., Palmer S.A., Parker A., Patel D., Pearce A.V., Peck A.I., Pelan S., Phelps K., Phillimore B.J., Plumb R., Rajan J., Raymond C., Rouse G., Saenphimmachak C., Sehra H.K., Sheridan E., Shownkeen R., Sims S., Skuce C.D., Smith M., Steward C., Subramanian S., Sycamore N., Tracey A., Tromans A., Van Helmond Z., Wall M., Wallis J.M., White S., Whitehead S.L., Wilkinson J.E., Willey D.L., Williams H., Wilming L., Wray P.W., Wu Z., Coulson A., Vaudin M., Sulston J.E., Durbin R.M., Hubbard T., Wooster R., Dunham I., Carter N.P., McVean G., Ross M.T., Harrow J., Olson M.V., Beck S., Rogers J., Bentley D.R.
    Nature 441:315-321(2006) [PubMed] [Europe PMC] [Abstract]
    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] (ISOFORM 1).
    Tissue: Placenta.
  8. "Differential expression of human Wnt genes 2, 3, 4, and 7B in human breast cell lines and normal and disease states of human breast tissue."
    Huguet E.L., McMahon J.A., McMahon A.P., Bicknell R., Harris A.L.
    Cancer Res. 54:2615-2621(1994) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 210-329 (ISOFORM 1/2).
    Tissue: Mammary gland.
  9. Peltoketo H., Heikkila M., Vainio S.
    Submitted (JAN-2001) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 1-26.
  10. "Expression of Wnt-4 can be regulated by the Wilms' tumor suppressor gene, WT1."
    Sim U.E., Smith A., Szilagi E., Ioannou P., Lindsay M.H., Little M.H.
    Submitted (APR-2001) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 1-26.
  11. "A WNT4 mutation associated with Muellerian-duct regression and virilization in a 46,XX woman."
    Biason-Lauber A., Konrad D., Navratil F., Schoenle E.J.
    N. Engl. J. Med. 351:792-798(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT MULLAPL GLY-216, CHARACTERIZATION OF VARIANT MULLAPL GLY-216.
  12. "WNT4 deficiency-a clinical phenotype distinct from the classic Mayer-Rokitansky-Kuster-Hauser syndrome: a case report."
    Biason-Lauber A., De Filippo G., Konrad D., Scarano G., Nazzaro A., Schoenle E.J.
    Hum. Reprod. 22:224-229(2007) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT MULLAPL CYS-83, CHARACTERIZATION OF VARIANT MULLAPL CYS-83.
  13. "SERKAL syndrome: an autosomal-recessive disorder caused by a loss-of-function mutation in WNT4."
    Mandel H., Shemer R., Borochowitz Z.U., Okopnik M., Knopf C., Indelman M., Drugan A., Tiosano D., Gershoni-Baruch R., Choder M., Sprecher E.
    Am. J. Hum. Genet. 82:39-47(2008) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT SERKAL VAL-114, CHARACTERIZATION OF VARIANT SERKAL VAL-114.
  14. "Identification and functional analysis of a new WNT4 gene mutation among 28 adolescent girls with primary amenorrhea and Muellerian duct abnormalities: a French collaborative study."
    Philibert P., Biason-Lauber A., Rouzier R., Pienkowski C., Paris F., Konrad D., Schoenle E., Sultan C.
    J. Clin. Endocrinol. Metab. 93:895-900(2008) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT MULLAPL PRO-12, CHARACTERIZATION OF VARIANT MULLAPL PRO-12.

Entry informationi

Entry nameiWNT4_HUMAN
AccessioniPrimary (citable) accession number: P56705
Secondary accession number(s): B4DJF9
, Q5TZQ0, Q96T81, Q9BXF5, Q9H1J8, Q9UJM2
Entry historyi
Integrated into UniProtKB/Swiss-Prot: July 15, 1999
Last sequence update: May 10, 2002
Last modified: October 29, 2014
This is version 139 of the entry and version 4 of the sequence. [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

Documents

  1. Human chromosome 1
    Human chromosome 1: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3