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Q9ULV1

- FZD4_HUMAN

UniProt

Q9ULV1 - FZD4_HUMAN

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Protein

Frizzled-4

Gene
FZD4
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5 - Experimental evidence at protein leveli

Functioni

Receptor for Wnt proteins. Most of frizzled receptors are coupled to the beta-catenin (CTNNB1) canonical signaling pathway, which leads to the activation of disheveled proteins, inhibition of GSK-3 kinase, nuclear accumulation of beta-catenin (CTNNB1) and activation of Wnt target genes. Plays a critical role in retinal vascularization by acting as a receptor for Wnt proteins and norrin (NDP). In retina, it can be both activated by Wnt protein-binding, but also by a Wnt-independent signaling via binding of norrin (NDP), promoting in both cases beta-catenin (CTNNB1) accumulation and stimulation of LEF/TCF-mediated transcriptional programs. A second signaling pathway involving PKC and calcium fluxes has been seen for some family members, but it is not yet clear if it represents a distinct pathway or if it can be integrated in the canonical pathway, as PKC seems to be required for Wnt-mediated inactivation of GSK-3 kinase. Both pathways seem to involve interactions with G-proteins. May be involved in transduction and intercellular transmission of polarity information during tissue morphogenesis and/or in differentiated tissues.

GO - Molecular functioni

  1. cytokine binding Source: BHF-UCL
  2. G-protein coupled receptor activity Source: UniProtKB-KW
  3. PDZ domain binding Source: UniProtKB
  4. protein binding Source: UniProtKB
  5. protein heterodimerization activity Source: BHF-UCL
  6. protein homodimerization activity Source: BHF-UCL
  7. ubiquitin protein ligase binding Source: UniProtKB
  8. Wnt-activated receptor activity Source: BHF-UCL
  9. Wnt-protein binding Source: RefGenome

GO - Biological processi

  1. brain development Source: RefGenome
  2. canonical Wnt signaling pathway Source: UniProtKB
  3. cellular response to retinoic acid Source: UniProtKB
  4. cerebellum vasculature morphogenesis Source: Ensembl
  5. extracellular matrix-cell signaling Source: Ensembl
  6. locomotion involved in locomotory behavior Source: Ensembl
  7. negative regulation of cell-substrate adhesion Source: BHF-UCL
  8. neuron differentiation Source: UniProtKB
  9. positive regulation of JUN kinase activity Source: Ensembl
  10. positive regulation of sequence-specific DNA binding transcription factor activity Source: BHF-UCL
  11. positive regulation of transcription, DNA-templated Source: BHF-UCL
  12. progesterone secretion Source: RefGenome
  13. regulation of vascular endothelial growth factor receptor signaling pathway Source: RefGenome
  14. retinal blood vessel morphogenesis Source: Ensembl
  15. retina vasculature morphogenesis in camera-type eye Source: BHF-UCL
  16. sensory perception of sound Source: Ensembl
  17. substrate adhesion-dependent cell spreading Source: RefGenome
  18. vasculogenesis Source: RefGenome
  19. Wnt signaling pathway Source: BHF-UCL
  20. Wnt signaling pathway, calcium modulating pathway Source: BHF-UCL
Complete GO annotation...

Keywords - Molecular functioni

Developmental protein, G-protein coupled receptor, Receptor, Transducer

Keywords - Biological processi

Wnt signaling pathway

Enzyme and pathway databases

ReactomeiREACT_172599. WNT5A-dependent internalization of FZD4.
REACT_172761. Ca2+ pathway.
REACT_18372. Class B/2 (Secretin family receptors).
REACT_200716. regulation of FZD by ubiquitination.
SignaLinkiQ9ULV1.

Protein family/group databases

MEROPSiI93.001.

Names & Taxonomyi

Protein namesi
Recommended name:
Frizzled-4
Short name:
Fz-4
Short name:
hFz4
Alternative name(s):
FzE4
CD_antigen: CD344
Gene namesi
Name:FZD4
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 11

Organism-specific databases

HGNCiHGNC:4042. FZD4.

Subcellular locationi

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini37 – 222186Extracellular Reviewed predictionAdd
BLAST
Transmembranei223 – 24321Helical; Name=1; Reviewed predictionAdd
BLAST
Topological domaini244 – 25411Cytoplasmic Reviewed predictionAdd
BLAST
Transmembranei255 – 27521Helical; Name=2; Reviewed predictionAdd
BLAST
Topological domaini276 – 30227Extracellular Reviewed predictionAdd
BLAST
Transmembranei303 – 32321Helical; Name=3; Reviewed predictionAdd
BLAST
Topological domaini324 – 34421Cytoplasmic Reviewed predictionAdd
BLAST
Transmembranei345 – 36521Helical; Name=4; Reviewed predictionAdd
BLAST
Topological domaini366 – 38924Extracellular Reviewed predictionAdd
BLAST
Transmembranei390 – 41021Helical; Name=5; Reviewed predictionAdd
BLAST
Topological domaini411 – 43626Cytoplasmic Reviewed predictionAdd
BLAST
Transmembranei437 – 45721Helical; Name=6; Reviewed predictionAdd
BLAST
Topological domaini458 – 47720Extracellular Reviewed predictionAdd
BLAST
Transmembranei478 – 49821Helical; Name=7; Reviewed predictionAdd
BLAST
Topological domaini499 – 53739Cytoplasmic Reviewed predictionAdd
BLAST

GO - Cellular componenti

  1. cell-cell junction Source: Ensembl
  2. cell projection Source: RefGenome
  3. cell surface Source: BHF-UCL
  4. clathrin-coated endocytic vesicle membrane Source: Reactome
  5. cytoplasm Source: RefGenome
  6. extracellular vesicular exosome Source: UniProt
  7. integral component of plasma membrane Source: BHF-UCL
  8. plasma membrane Source: BHF-UCL
Complete GO annotation...

Keywords - Cellular componenti

Cell membrane, Membrane

Pathology & Biotechi

Involvement in diseasei

Vitreoretinopathy, exudative 1 (EVR1) [MIM:133780]: A disorder of the retinal vasculature characterized by an abrupt cessation of growth of peripheral capillaries, leading to an avascular peripheral retina. This may lead to compensatory retinal neovascularization, which is thought to be induced by hypoxia from the initial avascular insult. New vessels are prone to leakage and rupture causing exudates and bleeding, followed by scarring, retinal detachment and blindness. Clinical features can be highly variable, even within the same family. Patients with mild forms of the disease are asymptomatic, and their only disease related abnormality is an arc of avascular retina in the extreme temporal periphery. In many ways the disease resembles retinopathy of prematurity but there is no evidence of prematurity or small birth weight in the patient history.
Note: The disease is caused by mutations affecting the gene represented in this entry.13 Publications
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti33 – 331P → S in EVR1. 3 Publications
Corresponds to variant rs61735304 [ dbSNP | Ensembl ].
VAR_063920
Natural varianti36 – 361G → D in EVR1. 1 Publication
VAR_063921
Natural varianti40 – 401E → Q in EVR1. 1 Publication
VAR_063922
Natural varianti69 – 691H → Y in EVR1; minor reduction of its wild-type activity. 4 Publications
Corresponds to variant rs80358282 [ dbSNP | Ensembl ].
VAR_063923
Natural varianti105 – 1051M → T in EVR1. 1 Publication
VAR_063924
Natural varianti105 – 1051M → V in EVR1; loss of function. 4 Publications
VAR_038947
Natural varianti114 – 1141I → T in EVR1. 1 Publication
VAR_063925
Natural varianti157 – 1571M → V in EVR1; loss of function. 2 Publications
VAR_038948
Natural varianti181 – 1811C → R in EVR1. 1 Publication
VAR_063927
Natural varianti204 – 2041C → R in EVR1. 1 Publication
VAR_063929
Natural varianti204 – 2041C → Y in EVR1. 1 Publication
VAR_063930
Natural varianti223 – 2231M → K in EVR1. 1 Publication
VAR_063931
Natural varianti256 – 2561I → V in EVR1. 1 Publication
VAR_063932
Natural varianti335 – 3351W → C in EVR1. 1 Publication
VAR_063933
Natural varianti342 – 3421M → V in EVR1. 2 Publications
VAR_063934
Natural varianti417 – 4171R → Q in EVR1; 48% loss of its wild-type activity; associated in a EVR4 patient with mutation CYS-444 in LPR5. 3 Publications
VAR_063936
Natural varianti445 – 4451T → P in EVR1. 1 Publication
VAR_063937
Natural varianti488 – 4881G → D in EVR1. 2 Publications
VAR_063938
Natural varianti493 – 4942Missing in EVR1; loss of function.
VAR_017777
Natural varianti497 – 4971S → F in EVR1. 1 Publication
VAR_063939
Natural varianti525 – 5251G → R in EVR1. 1 Publication
VAR_063940

Keywords - Diseasei

Disease mutation

Organism-specific databases

MIMi133780. phenotype.
Orphaneti891. Familial exudative vitreoretinopathy.
91495. Persistent hyperplastic primary vitreous.
90050. Retinopathy of prematurity.
PharmGKBiPA28459.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Signal peptidei1 – 3636 Reviewed predictionAdd
BLAST
Chaini37 – 537501Frizzled-4PRO_0000012985Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Disulfide bondi45 ↔ 106 By similarity
Disulfide bondi53 ↔ 99 By similarity
Glycosylationi59 – 591N-linked (GlcNAc...) Reviewed prediction
Disulfide bondi90 ↔ 128 By similarity
Disulfide bondi117 ↔ 158 By similarity
Disulfide bondi121 ↔ 145 By similarity
Glycosylationi144 – 1441N-linked (GlcNAc...) Reviewed prediction

Post-translational modificationi

Ubiquitinated by ZNRF3, leading to its degradation by the proteasome.1 Publication

Keywords - PTMi

Disulfide bond, Glycoprotein, Ubl conjugation

Proteomic databases

MaxQBiQ9ULV1.
PaxDbiQ9ULV1.
PRIDEiQ9ULV1.

PTM databases

PhosphoSiteiQ9ULV1.

Expressioni

Tissue specificityi

Almost ubiquitous. Largely expressed in adult heart, skeletal muscle, ovary, and fetal kidney. Moderate amounts in adult liver, kidney, pancreas, spleen, and fetal lung, and small amounts in placenta, adult lung, prostate, testis, colon, fetal brain and liver.

Gene expression databases

ArrayExpressiQ9ULV1.
BgeeiQ9ULV1.
CleanExiHS_FZD4.
GenevestigatoriQ9ULV1.

Organism-specific databases

HPAiHPA042328.

Interactioni

Subunit structurei

Interacts with MAGI3 and norrin (NDP). Component of a complex, at least composed of TSPAN12, FZD4 and norrin (NDP) By similarity.

Binary interactionsi

WithEntry#Exp.IntActNotes
I79_000956G3GTH22EBI-2466380,EBI-3504975From a different organism.
NDPQ006044EBI-2466380,EBI-2466352

Protein-protein interaction databases

BioGridi113918. 6 interactions.
IntActiQ9ULV1. 7 interactions.
MINTiMINT-2822299.
STRINGi9606.ENSP00000311581.

Structurei

3D structure databases

ProteinModelPortaliQ9ULV1.
SMRiQ9ULV1. Positions 45-149, 193-511.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini40 – 161122FZAdd
BLAST

Motif

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Motifi499 – 5046Lys-Thr-X-X-X-Trp motif, mediates interaction with the PDZ domain of Dvl family members By similarity
Motifi535 – 5373PDZ-binding

Domaini

Lys-Thr-X-X-X-Trp motif interacts with the PDZ doman of Dvl (Disheveled) family members and is involved in the activation of the Wnt/beta-catenin signaling pathway By similarity.
The FZ domain is involved in binding with Wnt ligands By similarity.

Sequence similaritiesi

Keywords - Domaini

Signal, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiNOG284049.
HOGENOMiHOG000233236.
HOVERGENiHBG006977.
InParanoidiQ9ULV1.
KOiK02354.
OMAiSMCLSVK.
OrthoDBiEOG7M3J01.
PhylomeDBiQ9ULV1.
TreeFamiTF317907.

Family and domain databases

Gene3Di1.10.2000.10. 1 hit.
InterProiIPR000539. Frizzled.
IPR015526. Frizzled/SFRP.
IPR020067. Frizzled_dom.
IPR026551. FZD4.
IPR017981. GPCR_2-like.
[Graphical view]
PANTHERiPTHR11309. PTHR11309. 1 hit.
PTHR11309:SF23. PTHR11309:SF23. 1 hit.
PfamiPF01534. Frizzled. 1 hit.
PF01392. Fz. 1 hit.
[Graphical view]
PRINTSiPR00489. FRIZZLED.
SMARTiSM00063. FRI. 1 hit.
[Graphical view]
SUPFAMiSSF63501. SSF63501. 1 hit.
PROSITEiPS50038. FZ. 1 hit.
PS50261. G_PROTEIN_RECEP_F2_4. 1 hit.
[Graphical view]

Sequencei

Sequence statusi: Complete.

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

Q9ULV1-1 [UniParc]FASTAAdd to Basket

« Hide

MAWRGAGPSV PGAPGGVGLS LGLLLQLLLL LGPARGFGDE EERRCDPIRI    50
SMCQNLGYNV TKMPNLVGHE LQTDAELQLT TFTPLIQYGC SSQLQFFLCS 100
VYVPMCTEKI NIPIGPCGGM CLSVKRRCEP VLKEFGFAWP ESLNCSKFPP 150
QNDHNHMCME GPGDEEVPLP HKTPIQPGEE CHSVGTNSDQ YIWVKRSLNC 200
VLKCGYDAGL YSRSAKEFTD IWMAVWASLC FISTAFTVLT FLIDSSRFSY 250
PERPIIFLSM CYNIYSIAYI VRLTVGRERI SCDFEEAAEP VLIQEGLKNT 300
GCAIIFLLMY FFGMASSIWW VILTLTWFLA AGLKWGHEAI EMHSSYFHIA 350
AWAIPAVKTI VILIMRLVDA DELTGLCYVG NQNLDALTGF VVAPLFTYLV 400
IGTLFIAAGL VALFKIRSNL QKDGTKTDKL ERLMVKIGVF SVLYTVPATC 450
VIACYFYEIS NWALFRYSAD DSNMAVEMLK IFMSLLVGIT SGMWIWSAKT 500
LHTWQKCSNR LVNSGKVKRE KRGNGWVKPG KGSETVV 537
Length:537
Mass (Da):59,881
Last modified:March 29, 2005 - v2
Checksum:iE0A83ECEC560A381
GO

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti33 – 331P → S in EVR1. 3 Publications
Corresponds to variant rs61735304 [ dbSNP | Ensembl ].
VAR_063920
Natural varianti36 – 361G → D in EVR1. 1 Publication
VAR_063921
Natural varianti40 – 401E → Q in EVR1. 1 Publication
VAR_063922
Natural varianti69 – 691H → Y in EVR1; minor reduction of its wild-type activity. 4 Publications
Corresponds to variant rs80358282 [ dbSNP | Ensembl ].
VAR_063923
Natural varianti105 – 1051M → T in EVR1. 1 Publication
VAR_063924
Natural varianti105 – 1051M → V in EVR1; loss of function. 4 Publications
VAR_038947
Natural varianti114 – 1141I → T in EVR1. 1 Publication
VAR_063925
Natural varianti157 – 1571M → V in EVR1; loss of function. 2 Publications
VAR_038948
Natural varianti168 – 1681P → S.3 Publications
Corresponds to variant rs61735303 [ dbSNP | Ensembl ].
VAR_063926
Natural varianti181 – 1811C → R in EVR1. 1 Publication
VAR_063927
Natural varianti203 – 2031K → N in retinopathy of prematurity. 1 Publication
VAR_063928
Natural varianti204 – 2041C → R in EVR1. 1 Publication
VAR_063929
Natural varianti204 – 2041C → Y in EVR1. 1 Publication
VAR_063930
Natural varianti223 – 2231M → K in EVR1. 1 Publication
VAR_063931
Natural varianti256 – 2561I → V in EVR1. 1 Publication
VAR_063932
Natural varianti335 – 3351W → C in EVR1. 1 Publication
VAR_063933
Natural varianti342 – 3421M → V in EVR1. 2 Publications
VAR_063934
Natural varianti370 – 3701A → G in retinopathy of prematurity. 1 Publication
VAR_063935
Natural varianti417 – 4171R → Q in EVR1; 48% loss of its wild-type activity; associated in a EVR4 patient with mutation CYS-444 in LPR5. 3 Publications
VAR_063936
Natural varianti436 – 4361K → T in a colorectal cancer sample; somatic mutation. 1 Publication
VAR_036413
Natural varianti445 – 4451T → P in EVR1. 1 Publication
VAR_063937
Natural varianti488 – 4881G → D in EVR1. 2 Publications
VAR_063938
Natural varianti493 – 4942Missing in EVR1; loss of function.
VAR_017777
Natural varianti497 – 4971S → F in EVR1. 1 Publication
VAR_063939
Natural varianti525 – 5251G → R in EVR1. 1 Publication
VAR_063940

Sequence conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti481 – 4811I → T in BAA86286. 1 Publication
Sequence conflicti500 – 5001T → S in BAA86286. 1 Publication

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AB032417 mRNA. Translation: BAA86286.1.
AY462097 mRNA. Translation: AAR23924.1.
AK292768 mRNA. Translation: BAF85457.1.
AP001528 Genomic DNA. No translation available.
BC114527 mRNA. Translation: AAI14528.1.
BC114622 mRNA. Translation: AAI14623.1.
CCDSiCCDS8279.1.
PIRiJC7127.
RefSeqiNP_036325.2. NM_012193.3.
UniGeneiHs.591968.

Genome annotation databases

EnsembliENST00000531380; ENSP00000434034; ENSG00000174804.
GeneIDi8322.
KEGGihsa:8322.
UCSCiuc001pce.3. human.

Polymorphism databases

DMDMi62298045.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AB032417 mRNA. Translation: BAA86286.1 .
AY462097 mRNA. Translation: AAR23924.1 .
AK292768 mRNA. Translation: BAF85457.1 .
AP001528 Genomic DNA. No translation available.
BC114527 mRNA. Translation: AAI14528.1 .
BC114622 mRNA. Translation: AAI14623.1 .
CCDSi CCDS8279.1.
PIRi JC7127.
RefSeqi NP_036325.2. NM_012193.3.
UniGenei Hs.591968.

3D structure databases

ProteinModelPortali Q9ULV1.
SMRi Q9ULV1. Positions 45-149, 193-511.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 113918. 6 interactions.
IntActi Q9ULV1. 7 interactions.
MINTi MINT-2822299.
STRINGi 9606.ENSP00000311581.

Protein family/group databases

MEROPSi I93.001.
GPCRDBi Search...

PTM databases

PhosphoSitei Q9ULV1.

Polymorphism databases

DMDMi 62298045.

Proteomic databases

MaxQBi Q9ULV1.
PaxDbi Q9ULV1.
PRIDEi Q9ULV1.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000531380 ; ENSP00000434034 ; ENSG00000174804 .
GeneIDi 8322.
KEGGi hsa:8322.
UCSCi uc001pce.3. human.

Organism-specific databases

CTDi 8322.
GeneCardsi GC11M086656.
GeneReviewsi FZD4.
HGNCi HGNC:4042. FZD4.
HPAi HPA042328.
MIMi 133780. phenotype.
604579. gene.
neXtProti NX_Q9ULV1.
Orphaneti 891. Familial exudative vitreoretinopathy.
91495. Persistent hyperplastic primary vitreous.
90050. Retinopathy of prematurity.
PharmGKBi PA28459.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG284049.
HOGENOMi HOG000233236.
HOVERGENi HBG006977.
InParanoidi Q9ULV1.
KOi K02354.
OMAi SMCLSVK.
OrthoDBi EOG7M3J01.
PhylomeDBi Q9ULV1.
TreeFami TF317907.

Enzyme and pathway databases

Reactomei REACT_172599. WNT5A-dependent internalization of FZD4.
REACT_172761. Ca2+ pathway.
REACT_18372. Class B/2 (Secretin family receptors).
REACT_200716. regulation of FZD by ubiquitination.
SignaLinki Q9ULV1.

Miscellaneous databases

GeneWikii FZD4.
GenomeRNAii 8322.
NextBioi 31163.
PROi Q9ULV1.
SOURCEi Search...

Gene expression databases

ArrayExpressi Q9ULV1.
Bgeei Q9ULV1.
CleanExi HS_FZD4.
Genevestigatori Q9ULV1.

Family and domain databases

Gene3Di 1.10.2000.10. 1 hit.
InterProi IPR000539. Frizzled.
IPR015526. Frizzled/SFRP.
IPR020067. Frizzled_dom.
IPR026551. FZD4.
IPR017981. GPCR_2-like.
[Graphical view ]
PANTHERi PTHR11309. PTHR11309. 1 hit.
PTHR11309:SF23. PTHR11309:SF23. 1 hit.
Pfami PF01534. Frizzled. 1 hit.
PF01392. Fz. 1 hit.
[Graphical view ]
PRINTSi PR00489. FRIZZLED.
SMARTi SM00063. FRI. 1 hit.
[Graphical view ]
SUPFAMi SSF63501. SSF63501. 1 hit.
PROSITEi PS50038. FZ. 1 hit.
PS50261. G_PROTEIN_RECEP_F2_4. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "Molecular cloning and characterization of human frizzled-4 on chromosome 11q14-q21."
    Kirikoshi H., Sagara N., Koike J., Tanaka K., Sekihara H., Hirai M., Katoh M.
    Biochem. Biophys. Res. Commun. 264:955-961(1999) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA].
    Tissue: Fetal lung.
  2. "cDNA clones of human proteins involved in signal transduction sequenced by the Guthrie cDNA resource center (www.cdna.org)."
    Kopatz S.A., Aronstam R.S., Sharma S.V.
    Submitted (NOV-2003) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    Tissue: Heart.
  3. "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: Trachea.
  4. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  5. "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].
  6. "A novel frizzled gene identified in human esophageal carcinoma mediates APC/beta-catenin signals."
    Tanaka S., Akiyoshi T., Mori M., Wands J.R., Sugimachi K.
    Proc. Natl. Acad. Sci. U.S.A. 95:10164-10169(1998) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 257-318.
    Tissue: Esophageal carcinoma.
  7. Cited for: UBIQUITINATION BY ZNRF3.
  8. Cited for: VARIANT EVR1 493-MET-TRP-494 DEL, CHARACTERIZATION OF VARIANT EVR1 493-MET-TRP-494 DEL.
  9. "Frizzled 4 gene (FZD4) mutations in patients with familial exudative vitreoretinopathy with variable expressivity."
    Kondo H., Hayashi H., Oshima K., Tahira T., Hayashi K.
    Br. J. Ophthalmol. 87:1291-1295(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS EVR1 TYR-69; VAL-105; GLN-417 AND ASP-488.
  10. "Novel mutation in FZD4 gene in a Japanese pedigree with familial exudative vitreoretinopathy."
    Yoshida S., Arita R., Yoshida A., Tada H., Emori A., Noda Y., Nakao S., Fujisawa K., Ishibashi T.
    Am. J. Ophthalmol. 138:670-671(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT EVR1 VAL-342.
  11. "Vascular development in the retina and inner ear: control by Norrin and Frizzled-4, a high-affinity ligand-receptor pair."
    Xu Q., Wang Y., Dabdoub A., Smallwood P.M., Williams J., Woods C., Kelley M.W., Jiang L., Tasman W., Zhang K., Nathans J.
    Cell 116:883-895(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS EVR1 VAL-105 AND VAL-157, CHARACTERIZATION OF VARIANTS EVR1 VAL-105; VAL-157 AND 493-MET-TRP-494 DEL.
  12. Cited for: VARIANTS EVR1 ASP-36; THR-105; VAL-157 AND PHE-497, VARIANT SER-168.
  13. "Autosomal dominant familial exudative vitreoretinopathy in two Japanese families with FZD4 mutations (H69Y and C181R)."
    Omoto S., Hayashi T., Kitahara K., Takeuchi T., Ueoka Y.
    Ophthalmic Genet. 25:81-90(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS EVR1 TYR-69 AND ARG-181.
  14. "Genetic variants of frizzled-4 gene in familial exudative vitreoretinopathy and advanced retinopathy of prematurity."
    MacDonald M.L., Goldberg Y.P., Macfarlane J., Samuels M.E., Trese M.T., Shastry B.S.
    Clin. Genet. 67:363-366(2005) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS EVR1 SER-33 AND VAL-256, VARIANT SER-168.
  15. "Complexity of the genotype-phenotype correlation in familial exudative vitreoretinopathy with mutations in the LRP5 and/or FZD4 genes."
    Qin M., Hayashi H., Oshima K., Tahira T., Hayashi K., Kondo H.
    Hum. Mutat. 26:104-112(2005) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS EVR1 TYR-69; VAL-105; CYS-335; VAL-342; GLN-417 AND ASP-488.
  16. "Identification of novel FZD4 mutations in Indian patients with familial exudative vitreoretinopathy."
    Nallathambi J., Shukla D., Rajendran A., Namperumalsamy P., Muthulakshmi R., Sundaresan P.
    Mol. Vis. 12:1086-1092(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS EVR1 SER-33 AND ARG-204.
  17. Cited for: VARIANT [LARGE SCALE ANALYSIS] THR-436.
  18. "Moderate reduction of Norrin signaling activity associated with the causative missense mutations identified in patients with familial exudative vitreoretinopathy."
    Qin M., Kondo H., Tahira T., Hayashi K.
    Hum. Genet. 122:615-623(2008) [PubMed] [Europe PMC] [Abstract]
    Cited for: CHARACTERIZATION OF VARIANTS EVR1 VAL-105 AND GLN-417, CHARACTERIZATION OF VARIANT TYR-69.
  19. Cited for: VARIANTS EVR1 SER-33; LYS-223 AND PRO-445, VARIANT SER-168.
  20. "Phenotypic overlap of familial exudative vitreoretinopathy (FEVR) with persistent fetal vasculature (PFV) caused by FZD4 mutations in two distinct pedigrees."
    Robitaille J.M., Wallace K., Zheng B., Beis M.J., Samuels M., Hoskin-Mott A., Guernsey D.L.
    Ophthalmic Genet. 30:23-30(2009) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS EVR1 THR-114 AND 493-MET-TRP-494 DEL.
  21. "Overview of the mutation spectrum in familial exudative vitreoretinopathy and Norrie disease with identification of 21 novel variants in FZD4, LRP5, and NDP."
    Nikopoulos K., Venselaar H., Collin R.W.J., Riveiro-Alvarez R., Boonstra F.N., Hooymans J.M., Mukhopadhyay A., Shears D., van Bers M., de Wijs I.J., van Essen A.J., Sijmons R.H., Tilanus M.A.D., van Nouhuys C.E., Ayuso C., Hoefsloot L.H., Cremers F.P.M.
    Hum. Mutat. 31:656-666(2010) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS EVR1 GLN-40; TYR-204 AND ARG-525.
  22. Cited for: VARIANTS RETINOPATHY OF PREMATURITY ASN-203 AND GLY-370.

Entry informationi

Entry nameiFZD4_HUMAN
AccessioniPrimary (citable) accession number: Q9ULV1
Secondary accession number(s): A8K9Q3, Q14C97, Q6S9E4
Entry historyi
Integrated into UniProtKB/Swiss-Prot: December 5, 2001
Last sequence update: March 29, 2005
Last modified: September 3, 2014
This is version 135 of the entry and version 2 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. 7-transmembrane G-linked receptors
    List of 7-transmembrane G-linked receptor entries
  2. Human cell differentiation molecules
    CD nomenclature of surface proteins of human leucocytes and list of entries
  3. Human chromosome 11
    Human chromosome 11: entries, gene names and cross-references to MIM
  4. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  5. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  6. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  7. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3

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