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ZNRF3 zinc and ring finger 3 [ Homo sapiens (human) ]

Gene ID: 84133, updated on 3-May-2020

Summary

Official Symbol
ZNRF3provided by HGNC
Official Full Name
zinc and ring finger 3provided by HGNC
Primary source
HGNC:HGNC:18126
See related
Ensembl:ENSG00000183579 MIM:612062
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
RNF203; BK747E2.3
Expression
Ubiquitous expression in kidney (RPKM 4.8), brain (RPKM 4.7) and 24 other tissues See more
Orthologs

Genomic context

See ZNRF3 in Genome Data Viewer
Location:
22q12.1
Exon count:
16
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 22 NC_000022.11 (28800657..29057488)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (29279755..29453476)

Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene coiled-coil domain containing 117 Neighboring gene X-box binding protein 1 Neighboring gene uncharacterized LOC107985549 Neighboring gene chromosome 9 open reading frame 16 pseudogene Neighboring gene Sharpr-MPRA regulatory region 13625 Neighboring gene ZNRF3 antisense RNA 1 Neighboring gene chromosome 22 open reading frame 31 Neighboring gene kringle containing transmembrane protein 1 Neighboring gene RNA, U6 small nuclear 810, pseudogene

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

Description
Genome-wide association study identifies multiple susceptibility loci for pancreatic cancer.
NHGRI GWA Catalog
Meta-analysis identifies 13 new loci associated with waist-hip ratio and reveals sexual dimorphism in the genetic basis of fat distribution.
NHGRI GWA Catalog

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
frizzled binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
frizzled binding IPI
Inferred from Physical Interaction
more info
PubMed 
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
ubiquitin protein ligase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
ubiquitin protein ligase activity TAS
Traceable Author Statement
more info
PubMed 
ubiquitin-protein transferase activity IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
Wnt receptor catabolic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Wnt receptor catabolic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
Wnt receptor catabolic process TAS
Traceable Author Statement
more info
PubMed 
Wnt signaling pathway IEA
Inferred from Electronic Annotation
more info
 
limb development ISS
Inferred from Sequence or Structural Similarity
more info
 
negative regulation of canonical Wnt signaling pathway IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
negative regulation of canonical Wnt signaling pathway IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of non-canonical Wnt signaling pathway IMP
Inferred from Mutant Phenotype
more info
PubMed 
protein ubiquitination IDA
Inferred from Direct Assay
more info
PubMed 
protein ubiquitination IEA
Inferred from Electronic Annotation
more info
 
regulation of Wnt signaling pathway, planar cell polarity pathway IEA
Inferred from Electronic Annotation
more info
 
stem cell proliferation ISS
Inferred from Sequence or Structural Similarity
more info
 
ubiquitin-dependent protein catabolic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
ubiquitin-dependent protein catabolic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
integral component of plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
integral component of plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
plasma membrane TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
E3 ubiquitin-protein ligase ZNRF3
Names
CTA-292E10.6
RING finger protein 203
RING-type E3 ubiquitin transferase ZNRF3
novel C3HC4 type Zinc finger (ring finger)
zinc/RING finger protein 3
NP_001193927.1
NP_115549.2
XP_011528737.1
XP_011528738.1
XP_011528739.1
XP_011528740.1
XP_016884479.1
XP_024308054.1

NCBI Reference Sequences (RefSeq)

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)

  1. NM_001206998.2NP_001193927.1  E3 ubiquitin-protein ligase ZNRF3 isoform 1 precursor

    See identical proteins and their annotated locations for NP_001193927.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AB051436, AI244417, AL021393, AL031596
    Consensus CDS
    CCDS56225.1
    UniProtKB/Swiss-Prot
    Q9ULT6
    UniProtKB/TrEMBL
    A0A024R1J1
    Related
    ENSP00000443824.2, ENST00000544604.7
    Conserved Domains (1) summary
    pfam13639
    Location:293334
    zf-RING_2; Ring finger domain
  2. NM_032173.3NP_115549.2  E3 ubiquitin-protein ligase ZNRF3 isoform 2

    See identical proteins and their annotated locations for NP_115549.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at a downstream start codon, compared to variant 1. The encoded isoform (2) has a shorter N-terminus, compared to isoform 1.
    Source sequence(s)
    AB051436, AI244417, AK096397, AL021393
    Consensus CDS
    CCDS42999.1
    UniProtKB/Swiss-Prot
    Q9ULT6
    Related
    ENSP00000384456.1, ENST00000402174.5
    Conserved Domains (1) summary
    pfam13639
    Location:193234
    zf-RING_2; Ring finger domain

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000022.11 Reference GRCh38.p13 Primary Assembly

    Range
    28800657..29057488
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011530435.2XP_011528737.1  E3 ubiquitin-protein ligase ZNRF3 isoform X1

    See identical proteins and their annotated locations for XP_011528737.1

    Conserved Domains (1) summary
    pfam13639
    Location:198239
    zf-RING_2; Ring finger domain
  2. XM_011530436.3XP_011528738.1  E3 ubiquitin-protein ligase ZNRF3 isoform X1

    See identical proteins and their annotated locations for XP_011528738.1

    Conserved Domains (1) summary
    pfam13639
    Location:198239
    zf-RING_2; Ring finger domain
  3. XM_017028990.1XP_016884479.1  E3 ubiquitin-protein ligase ZNRF3 isoform X1

    Conserved Domains (1) summary
    pfam13639
    Location:198239
    zf-RING_2; Ring finger domain
  4. XM_011530438.2XP_011528740.1  E3 ubiquitin-protein ligase ZNRF3 isoform X1

    See identical proteins and their annotated locations for XP_011528740.1

    Conserved Domains (1) summary
    pfam13639
    Location:198239
    zf-RING_2; Ring finger domain
  5. XM_011530437.1XP_011528739.1  E3 ubiquitin-protein ligase ZNRF3 isoform X1

    See identical proteins and their annotated locations for XP_011528739.1

    Conserved Domains (1) summary
    pfam13639
    Location:198239
    zf-RING_2; Ring finger domain
  6. XM_024452286.1XP_024308054.1  E3 ubiquitin-protein ligase ZNRF3 isoform X2

    Conserved Domains (1) summary
    cd16799
    Location:101145
    RING-H2_ZNRF3; RING finger, H2 subclass, found in zinc/RING finger protein 3 (ZNRF3) and similar proteins
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