FZD1 frizzled class receptor 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: FZD1provided by HGNC
Official Full Name: frizzled class receptor 1provided by HGNC
Primary source: HGNC:HGNC:4038
See related: Ensembl:ENSG00000157240 MIM:603408; AllianceGenome:HGNC:4038
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Summary: Members of the 'frizzled' gene family encode 7-transmembrane domain proteins that are receptors for Wnt signaling proteins. The FZD1 protein contains a signal peptide, a cysteine-rich domain in the N-terminal extracellular region, 7 transmembrane domains, and a C-terminal PDZ domain-binding motif. The FZD1 transcript is expressed in various tissues. [provided by RefSeq, Jul 2008]
Orthologs: mouse all
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Genomic context

Location:: 7q21.13

Exon count:: 1

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	7	NC_000007.14 (91264433..91271326)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	7	NC_060931.1 (92512278..92519169)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	7	NC_000007.13 (90893748..90900641)

Chromosome 7 - NC_000007.14 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Epigenetic repression of Wnt receptors in AD: a role for Sirtuin2-induced H4K16ac deacetylation of Frizzled1 and Frizzled7 promoters.
Title: Epigenetic repression of Wnt receptors in AD: a role for Sirtuin2-induced H4K16ac deacetylation of Frizzled1 and Frizzled7 promoters.
Protein disulfide isomerase family 6 promotes the imatinib-resistance of renal cell carcinoma by regulation of Wnt3a-Frizzled1 axis.
Title: Protein disulfide isomerase family 6 promotes the imatinib-resistance of renal cell carcinoma by regulation of Wnt3a-Frizzled1 axis.
LINC00942 Promotes Tumor Proliferation and Metastasis in Lung Adenocarcinoma via FZD1 Upregulation.
Title: LINC00942 Promotes Tumor Proliferation and Metastasis in Lung Adenocarcinoma via FZD1 Upregulation.
[RBM38 Mediates the Proliferation of Acute Myeloid Leukemia Cells HL-60 by Regulating FZD1 mRNA Stability].
Title: [RBM38 Mediates the Proliferation of Acute Myeloid Leukemia Cells HL-60 by Regulating FZD1 mRNA Stability].
Wnt receptor gene FZD1 was associated with schizophrenia in genome-wide SNP analysis of the Australian Schizophrenia Research Bank cohort.
Title: Wnt receptor gene FZD1 was associated with schizophrenia in genome-wide SNP analysis of the Australian Schizophrenia Research Bank cohort.
Hypoxia-Induced Suppression of Alternative Splicing of MBD2 Promotes Breast Cancer Metastasis via Activation of FZD1.
Title: Hypoxia-Induced Suppression of Alternative Splicing of MBD2 Promotes Breast Cancer Metastasis via Activation of FZD1.
Frizzled 1 and Wnt1 as new potential therapeutic targets in the traumatically injured spinal cord.
Title: Frizzled 1 and Wnt1 as new potential therapeutic targets in the traumatically injured spinal cord.
study has demonstrated that aberrant CpG island hypermethylation of the FZD1 gene is present in patients with ONFH, resulting in Wnt/beta-catenin signaling inactivation and subsequent cell dysfunction.
Title: Hypermethylation of Frizzled1 is associated with Wnt/β-catenin signaling inactivation in mesenchymal stem cells of patients with steroid-associated osteonecrosis.
FZD1 expression levels were remarkably reduced in the articular cartilage of patients with Kashin-Beck disease.
Title: Biological Analysis of Gene Expression and Clinical Variables Suggest FZD1 as a Novel Biomarker for Patients with Kashin-Beck Disease, an Endemic Osteoarthritis in China.
activated FZD1 observed in leukemic cells likely confers acquired drug resistance, whereas FZD1 silencing may be more effective in reversing multidrug resistance
Title: Knockdown of the Wnt receptor Frizzled-1 (FZD1) reduces MDR1/P-glycoprotein expression in multidrug resistant leukemic cells and inhibits leukemic cell proliferation.

Submit: New GeneRIF Correction See all GeneRIFs (33)

Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Genome-wide association scan of dental caries in the permanent dentition. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
Tat	tat	The expression of frizzled class receptor 1 (FZD1) gene is upregulated in both Jurkat-Tat101 and Jurkat-Tat72 cells	PubMed

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Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

stSG615201 (e-PCR)
- UniSTS:451072

stSG615202 (e-PCR)
- UniSTS:451073

Fzd2 (e-PCR), detects polymorphism
- UniSTS:532232

RH93094 (e-PCR)
- UniSTS:87316

REN110713 (e-PCR)
- UniSTS:435509

REN110714 (e-PCR)
- UniSTS:435510

REN110715 (e-PCR)
- UniSTS:435511

REN110716 (e-PCR)
- UniSTS:435512

REN110717 (e-PCR)
- UniSTS:435513

REN110718 (e-PCR)
- UniSTS:435514

REN110719 (e-PCR)
- UniSTS:435515

REN110720 (e-PCR)
- UniSTS:435516

REN110721 (e-PCR)
- UniSTS:435517

REN110722 (e-PCR)
- UniSTS:435518

REN110723 (e-PCR)
- UniSTS:435519

REN110724 (e-PCR)
- UniSTS:435520

REN110725 (e-PCR)
- UniSTS:435521

REN110726 (e-PCR)
- UniSTS:435522

REN110727 (e-PCR)
- UniSTS:435523

REN110728 (e-PCR)
- UniSTS:435524

REN110729 (e-PCR)
- UniSTS:435525

REN110730 (e-PCR)
- UniSTS:435526

REN110731 (e-PCR)
- UniSTS:435527

ECD12210 (e-PCR)
- UniSTS:293243

ECD00128 (e-PCR)
- UniSTS:281242

STS-AA010162 (e-PCR)
- UniSTS:18346

STS-N70776 (e-PCR)
- UniSTS:65721

ECD13068 (e-PCR)
- UniSTS:294099

ECD06127 (e-PCR)
- UniSTS:287189

ECD06908 (e-PCR)
- UniSTS:287966

ECD04086 (e-PCR)
- UniSTS:285165

ECD08990 (e-PCR)
- UniSTS:290036

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables G protein-coupled receptor activity	IEA Inferred from Electronic Annotation more info
enables PDZ domain binding	IPI Inferred from Physical Interaction more info	PubMed
enables Wnt receptor activity	IBA Inferred from Biological aspect of Ancestor more info
enables Wnt receptor activity	IDA Inferred from Direct Assay more info	PubMed
enables Wnt receptor activity	NAS Non-traceable Author Statement more info	PubMed
enables Wnt receptor activity	TAS Traceable Author Statement more info	PubMed
enables Wnt-protein binding	IBA Inferred from Biological aspect of Ancestor more info
enables Wnt-protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables Wnt-protein binding	NAS Non-traceable Author Statement more info	PubMed
enables frizzled binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables signaling receptor binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in G protein-coupled receptor signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in astrocyte-dopaminergic neuron signaling	IEA Inferred from Electronic Annotation more info
involved_in autocrine signaling	IDA Inferred from Direct Assay more info	PubMed
involved_in canonical Wnt signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
involved_in canonical Wnt signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in canonical Wnt signaling pathway	IGI Inferred from Genetic Interaction more info	PubMed
involved_in canonical Wnt signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in canonical Wnt signaling pathway	NAS Non-traceable Author Statement more info	PubMed
involved_in cell-cell signaling	IDA Inferred from Direct Assay more info	PubMed
involved_in endothelial cell differentiation	IEA Inferred from Electronic Annotation more info
involved_in hard palate development	IEA Inferred from Electronic Annotation more info
involved_in membranous septum morphogenesis	IEA Inferred from Electronic Annotation more info
involved_in midbrain dopaminergic neuron differentiation	NAS Non-traceable Author Statement more info	PubMed
involved_in muscular septum morphogenesis	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of BMP signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of DNA-templated transcription	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of canonical Wnt signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in neuron differentiation	ISS Inferred from Sequence or Structural Similarity more info
involved_in non-canonical Wnt signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
involved_in outflow tract morphogenesis	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of DNA-binding transcription factor activity	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of DNA-templated transcription	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of neuron projection development	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of osteoblast differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in presynapse assembly	TAS Traceable Author Statement more info	PubMed
involved_in regulation of mesenchymal stem cell differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of presynapse assembly	IEA Inferred from Electronic Annotation more info
involved_in response to xenobiotic stimulus	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
part_of Wnt signalosome	IC Inferred by Curator more info	PubMed
located_in cell surface	IDA Inferred from Direct Assay more info	PubMed
located_in focal adhesion	HDA more info	PubMed
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	TAS Traceable Author Statement more info

General protein information

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Preferred Names: frizzled-1

Names: Wnt receptor; frizzled 1, seven transmembrane spanning receptor; frizzled family receptor 1; frizzled homolog 1; frizzled, Drosophila, homolog of, 1; fz-1; fzE1; hFz1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_003505.2 → NP_003496.1 frizzled-1

See identical proteins and their annotated locations for NP_003496.1

Status: REVIEWED

Source sequence(s)

AB017363, AC084381

Consensus CDS

CCDS5620.1

UniProtKB/Swiss-Prot

A4D1E8, O94815, Q549T8, Q9UP38

UniProtKB/TrEMBL

B2RC95

Related

ENSP00000287934.2, ENST00000287934.4

Conserved Domains (2) summary

cd07465
Location:112 → 238

CRD_FZ1; Cysteine-rich Wnt-binding domain (CRD) of the frizzled 1 (Fz1) receptor

pfam01534
Location:310 → 634

Frizzled; Frizzled/Smoothened family membrane region