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Protein

Protein Wnt-7a

Gene

WNT7A

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

Functioni

Ligand for members of the frizzled family of seven transmembrane receptors that functions in the canonical Wnt/beta-catenin signaling pathway (By similarity). Plays an important role in embryonic development, including dorsal versus ventral patterning during limb development, skeleton development and urogenital tract development (PubMed:16826533). Required for central nervous system (CNS) angiogenesis and blood-brain barrier regulation (PubMed:30026314). Required for normal, sexually dimorphic development of the Mullerian ducts, and for normal fertility in both sexes (By similarity). Required for normal neural stem cell proliferation in the hippocampus dentate gyrus (By similarity). Required for normal progress through the cell cycle in neural progenitor cells, for self-renewal of neural stem cells, and for normal neuronal differentiation and maturation (By similarity). Promotes formation of synapses via its interaction with FZD5 (By similarity).By similarity2 Publications

GO - Molecular functioni

  • cytokine activity Source: BHF-UCL
  • frizzled binding Source: GO_Central
  • receptor ligand activity Source: BHF-UCL
  • signaling receptor binding Source: BHF-UCL

GO - Biological processi

Keywordsi

Molecular functionDevelopmental protein
Biological processWnt signaling pathway

Enzyme and pathway databases

ReactomeiR-HSA-3238698 WNT ligand biogenesis and trafficking
R-HSA-373080 Class B/2 (Secretin family receptors)
SignaLinkiO00755
SIGNORiO00755

Names & Taxonomyi

Protein namesi
Recommended name:
Protein Wnt-7a
Gene namesi
Name:WNT7A
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 3

Organism-specific databases

EuPathDBiHostDB:ENSG00000154764.5
HGNCiHGNC:12786 WNT7A
MIMi601570 gene
neXtProtiNX_O00755

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Extracellular matrix, Secreted

Pathology & Biotechi

Involvement in diseasei

Limb pelvis hypoplasia aplasia syndrome (LPHAS)5 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA syndrome of severe deficiency of the extremities due to hypo- or aplasia of one or more long bones of one or more limbs. Pelvic manifestations include hip dislocation, hypoplastic iliac bone and aplastic pubic bones. Thoracic deformity, unusual facies and genitourinary anomalies can be present.
See also OMIM:276820
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_06576572E → K in LPHAS. 1 PublicationCorresponds to variant dbSNP:rs397514666EnsemblClinVar.1
Natural variantiVAR_077340102R → W in LPHAS; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs879255548EnsemblClinVar.1
Natural variantiVAR_064480222R → W in LPHAS. 1 PublicationCorresponds to variant dbSNP:rs397514643EnsemblClinVar.1
Natural variantiVAR_030674292R → C in LPHAS; results in a loss of function mutation with some residual activity. 2 PublicationsCorresponds to variant dbSNP:rs104893835EnsemblClinVar.1
Fuhrmann syndrome (FUHRS)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionDistinct limb-malformation disorder characterized also by various degrees of limb aplasia/hypoplasia and joint dysplasia.
See also OMIM:228930
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_030673109A → T in FUHRS; retains activity that is significant but not comparable to wild-type activity. 1 PublicationCorresponds to variant dbSNP:rs104893832EnsemblClinVar.1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi206S → A: Does not affect interaction with RECK. 1 Publication1
Mutagenesisi241V → A in 4A; abolished interaction with RECK; when associated with 251-A-A-252 and A-262. 1 Publication1
Mutagenesisi251 – 252FL → AA in 4A; abolished interaction with RECK; when associated with A-241 and A-262. 1 Publication2
Mutagenesisi262K → A in 4A; abolished interaction with RECK; when associated with A-241 and 251-A-A-252. 1 Publication1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNETi7476
MalaCardsiWNT7A
MIMi228930 phenotype
276820 phenotype
OpenTargetsiENSG00000154764
Orphaneti2854 Fuhrmann syndrome
2879 Phocomelia, Schinzel type
PharmGKBiPA37387

Polymorphism and mutation databases

BioMutaiWNT7A

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 31Sequence analysisAdd BLAST31
ChainiPRO_000004144232 – 349Protein Wnt-7aAdd BLAST318

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Disulfide bondi73 ↔ 84By similarity
Glycosylationi83N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi123 ↔ 131By similarity
Glycosylationi127N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi133 ↔ 152By similarity
Disulfide bondi200 ↔ 214By similarity
Disulfide bondi202 ↔ 209By similarity
Lipidationi206O-palmitoleoyl serine; by PORCN1 Publication1
Disulfide bondi294 ↔ 309By similarity
Glycosylationi295N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi324 ↔ 339By similarity
Disulfide bondi326 ↔ 336By similarity
Disulfide bondi331 ↔ 332By similarity

Post-translational modificationi

Palmitoleoylation is required for efficient binding to frizzled receptors. Depalmitoleoylation leads to Wnt signaling pathway inhibition.By similarity

Keywords - PTMi

Disulfide bond, Glycoprotein, Lipoprotein

Proteomic databases

MaxQBiO00755
PaxDbiO00755
PeptideAtlasiO00755
PRIDEiO00755
ProteomicsDBi48019
TopDownProteomicsiO00755

PTM databases

iPTMnetiO00755
PhosphoSitePlusiO00755

Expressioni

Tissue specificityi

Expression is restricted to placenta, kidney, testis, uterus, fetal lung, and fetal and adult brain.

Gene expression databases

BgeeiENSG00000154764 Expressed in 49 organ(s), highest expression level in epithelium of bronchus
CleanExiHS_WNT7A
GenevisibleiO00755 HS

Organism-specific databases

HPAiCAB025894
HPA015719

Interactioni

Subunit structurei

Forms a soluble 1:1 complex with AFM; this prevents oligomerization and is required for prolonged biological activity (PubMed:26902720). The complex with AFM may represent the physiological form in body fluids (PubMed:26902720). Interacts with FZD5 (By similarity). Interacts with PORCN (By similarity). Interacts (via intrinsically disordered linker region) with RECK; interaction with RECK confers ligand selectivity for Wnt7 in brain endothelial cells and allows these cells to selectively respond to Wnt7 (PubMed:30026314).By similarity2 Publications

Binary interactionsi

WithEntry#Exp.IntActNotes
WIF1Q9Y5W53EBI-727198,EBI-3922719

GO - Molecular functioni

Protein-protein interaction databases

BioGridi113313, 31 interactors
DIPiDIP-61511N
IntActiO00755, 3 interactors
MINTiO00755
STRINGi9606.ENSP00000285018

Structurei

3D structure databases

ProteinModelPortaliO00755
SMRiO00755
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni238 – 266Intrinsically disordered linker1 PublicationAdd BLAST29

Domaini

The intrinsically disordered linker region is required for recognition by RECK in brain endothelial cells.1 Publication

Sequence similaritiesi

Belongs to the Wnt family.Curated

Keywords - Domaini

Signal

Phylogenomic databases

eggNOGiKOG3913 Eukaryota
ENOG410XQZ1 LUCA
GeneTreeiENSGT00760000118943
HOGENOMiHOG000039528
HOVERGENiHBG001595
InParanoidiO00755
KOiK00572
OMAiKNMRLEC
OrthoDBiEOG091G0OFF
PhylomeDBiO00755
TreeFamiTF105310

Family and domain databases

InterProiView protein in InterPro
IPR005817 Wnt
IPR013300 Wnt7
IPR018161 Wnt_CS
PANTHERiPTHR12027 PTHR12027, 1 hit
PfamiView protein in Pfam
PF00110 wnt, 1 hit
PRINTSiPR01891 WNT7PROTEIN
PR01349 WNTPROTEIN
SMARTiView protein in SMART
SM00097 WNT1, 1 hit
PROSITEiView protein in PROSITE
PS00246 WNT1, 1 hit

Sequencei

Sequence statusi: Complete.

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

O00755-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MNRKARRCLG HLFLSLGMVY LRIGGFSSVV ALGASIICNK IPGLAPRQRA
60 70 80 90 100
ICQSRPDAII VIGEGSQMGL DECQFQFRNG RWNCSALGER TVFGKELKVG
110 120 130 140 150
SREAAFTYAI IAAGVAHAIT AACTQGNLSD CGCDKEKQGQ YHRDEGWKWG
160 170 180 190 200
GCSADIRYGI GFAKVFVDAR EIKQNARTLM NLHNNEAGRK ILEENMKLEC
210 220 230 240 250
KCHGVSGSCT TKTCWTTLPQ FRELGYVLKD KYNEAVHVEP VRASRNKRPT
260 270 280 290 300
FLKIKKPLSY RKPMDTDLVY IEKSPNYCEE DPVTGSVGTQ GRACNKTAPQ
310 320 330 340
ASGCDLMCCG RGYNTHQYAR VWQCNCKFHW CCYVKCNTCS ERTEMYTCK
Length:349
Mass (Da):39,005
Last modified:April 17, 2007 - v2
Checksum:i259EF506CFCD7AB0
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti6R → L in AAC51319 (PubMed:9161407).Curated1
Sequence conflicti14L → F in BAA82509 (PubMed:8893824).Curated1
Sequence conflicti20Y → C in AAC51319 (PubMed:9161407).Curated1
Sequence conflicti35S → T in AAC51319 (PubMed:9161407).Curated1
Sequence conflicti103 – 104EA → DG in AAC51319 (PubMed:9161407).Curated2
Sequence conflicti125Q → H in AAC51319 (PubMed:9161407).Curated1
Sequence conflicti280E → G no nucleotide entry (PubMed:8168088).Curated1
Sequence conflicti329H → Q in BAA82509 (PubMed:8893824).Curated1
Sequence conflicti338T → K in BAA82509 (PubMed:8893824).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_06576572E → K in LPHAS. 1 PublicationCorresponds to variant dbSNP:rs397514666EnsemblClinVar.1
Natural variantiVAR_077340102R → W in LPHAS; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs879255548EnsemblClinVar.1
Natural variantiVAR_030673109A → T in FUHRS; retains activity that is significant but not comparable to wild-type activity. 1 PublicationCorresponds to variant dbSNP:rs104893832EnsemblClinVar.1
Natural variantiVAR_064480222R → W in LPHAS. 1 PublicationCorresponds to variant dbSNP:rs397514643EnsemblClinVar.1
Natural variantiVAR_030674292R → C in LPHAS; results in a loss of function mutation with some residual activity. 2 PublicationsCorresponds to variant dbSNP:rs104893835EnsemblClinVar.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
U53476 mRNA Translation: AAC51319.1
D83175 mRNA Translation: BAA82509.1
CH471055 Genomic DNA Translation: EAW64173.1
BC008811 mRNA Translation: AAH08811.1
CCDSiCCDS2616.1
RefSeqiNP_004616.2, NM_004625.3
UniGeneiHs.72290

Genome annotation databases

EnsembliENST00000285018; ENSP00000285018; ENSG00000154764
GeneIDi7476
KEGGihsa:7476
UCSCiuc003bye.2 human

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
U53476 mRNA Translation: AAC51319.1
D83175 mRNA Translation: BAA82509.1
CH471055 Genomic DNA Translation: EAW64173.1
BC008811 mRNA Translation: AAH08811.1
CCDSiCCDS2616.1
RefSeqiNP_004616.2, NM_004625.3
UniGeneiHs.72290

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
4UZQX-ray1.50B202-209[»]
ProteinModelPortaliO00755
SMRiO00755
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi113313, 31 interactors
DIPiDIP-61511N
IntActiO00755, 3 interactors
MINTiO00755
STRINGi9606.ENSP00000285018

PTM databases

iPTMnetiO00755
PhosphoSitePlusiO00755

Polymorphism and mutation databases

BioMutaiWNT7A

Proteomic databases

MaxQBiO00755
PaxDbiO00755
PeptideAtlasiO00755
PRIDEiO00755
ProteomicsDBi48019
TopDownProteomicsiO00755

Protocols and materials databases

DNASUi7476
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000285018; ENSP00000285018; ENSG00000154764
GeneIDi7476
KEGGihsa:7476
UCSCiuc003bye.2 human

Organism-specific databases

CTDi7476
DisGeNETi7476
EuPathDBiHostDB:ENSG00000154764.5
GeneCardsiWNT7A
HGNCiHGNC:12786 WNT7A
HPAiCAB025894
HPA015719
MalaCardsiWNT7A
MIMi228930 phenotype
276820 phenotype
601570 gene
neXtProtiNX_O00755
OpenTargetsiENSG00000154764
Orphaneti2854 Fuhrmann syndrome
2879 Phocomelia, Schinzel type
PharmGKBiPA37387
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG3913 Eukaryota
ENOG410XQZ1 LUCA
GeneTreeiENSGT00760000118943
HOGENOMiHOG000039528
HOVERGENiHBG001595
InParanoidiO00755
KOiK00572
OMAiKNMRLEC
OrthoDBiEOG091G0OFF
PhylomeDBiO00755
TreeFamiTF105310

Enzyme and pathway databases

ReactomeiR-HSA-3238698 WNT ligand biogenesis and trafficking
R-HSA-373080 Class B/2 (Secretin family receptors)
SignaLinkiO00755
SIGNORiO00755

Miscellaneous databases

ChiTaRSiWNT7A human
GeneWikiiWNT7A
GenomeRNAii7476
PROiPR:O00755
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000154764 Expressed in 49 organ(s), highest expression level in epithelium of bronchus
CleanExiHS_WNT7A
GenevisibleiO00755 HS

Family and domain databases

InterProiView protein in InterPro
IPR005817 Wnt
IPR013300 Wnt7
IPR018161 Wnt_CS
PANTHERiPTHR12027 PTHR12027, 1 hit
PfamiView protein in Pfam
PF00110 wnt, 1 hit
PRINTSiPR01891 WNT7PROTEIN
PR01349 WNTPROTEIN
SMARTiView protein in SMART
SM00097 WNT1, 1 hit
PROSITEiView protein in PROSITE
PS00246 WNT1, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiWNT7A_HUMAN
AccessioniPrimary (citable) accession number: O00755
Secondary accession number(s): Q96H90, Q9Y560
Entry historyiIntegrated into UniProtKB/Swiss-Prot: November 1, 1997
Last sequence update: April 17, 2007
Last modified: November 7, 2018
This is version 167 of the entry and version 2 of the sequence. See 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

3D-structure, Complete proteome, Reference proteome

Documents

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