This gene encodes an E3 ubiquitin-protein ligase that plays a role in neural-cell differentiation. Overexpression of this gene causes neurite-like elongation. The encoded protein contains both a zinc finger and a RING finger motif and is localized in the endosome/lysosome compartment, indicating that it may be involved in ubiquitin-mediated protein modification, and in synaptic... See more...

Aliases for ZNRF1 Gene

Aliases for ZNRF1 Gene

  • Zinc And Ring Finger 1 2 3 5
  • Zinc And Ring Finger 1, E3 Ubiquitin Protein Ligase 2 3
  • RING-Type E3 Ubiquitin Transferase ZNRF1 3 4
  • Nerve Injury-Induced Gene 283 Protein 3 4
  • E3 Ubiquitin-Protein Ligase ZNRF1 3 4
  • Zinc/RING Finger Protein 1 3 4
  • NIN283 3 4
  • Zinc And Ring Finger Protein 1 3
  • Nerve Injury Gene 283 3
  • DKFZp434E229 2
  • EC 2.3.2.27 4
  • FLJ14846 2
  • EC 6.3.2 51
  • Nin283 2
  • ZNRF1 5

External Ids for ZNRF1 Gene

Previous GeneCards Identifiers for ZNRF1 Gene

  • GC16P074812
  • GC00U917013
  • GC16P073590
  • GC16P060784

Summaries for ZNRF1 Gene

Entrez Gene Summary for ZNRF1 Gene

  • This gene encodes an E3 ubiquitin-protein ligase that plays a role in neural-cell differentiation. Overexpression of this gene causes neurite-like elongation. The encoded protein contains both a zinc finger and a RING finger motif and is localized in the endosome/lysosome compartment, indicating that it may be involved in ubiquitin-mediated protein modification, and in synaptic vessicle membranes in neurons. [provided by RefSeq, Feb 2012]

GeneCards Summary for ZNRF1 Gene

ZNRF1 (Zinc And Ring Finger 1) is a Protein Coding gene. Diseases associated with ZNRF1 include B-Cell Adult Acute Lymphocytic Leukemia and Intermittent Explosive Disorder. Among its related pathways are Innate Immune System and Class I MHC mediated antigen processing and presentation. Gene Ontology (GO) annotations related to this gene include ligase activity and ubiquitin protein ligase activity. An important paralog of this gene is ZNRF2.

UniProtKB/Swiss-Prot Summary for ZNRF1 Gene

  • E3 ubiquitin-protein ligase that mediates the ubiquitination of AKT1 and GLUL, thereby playing a role in neuron cells differentiation. Plays a role in the establishment and maintenance of neuronal transmission and plasticity. Regulates Schwann cells differentiation by mediating ubiquitination of GLUL. Promotes neurodegeneration by mediating 'Lys-48'-linked polyubiquitination and subsequent degradation of AKT1 in axons: degradation of AKT1 prevents AKT1-mediated phosphorylation of GSK3B, leading to GSK3B activation and phosphorylation of DPYSL2/CRMP2 followed by destabilization of microtubule assembly in axons (Probable).

Gene Wiki entry for ZNRF1 Gene

Additional gene information for ZNRF1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ZNRF1 Gene

Genomics for ZNRF1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for ZNRF1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ZNRF1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ZNRF1

Top Transcription factor binding sites by QIAGEN in the ZNRF1 gene promoter:
  • AML1a
  • AP-2alpha
  • AP-2alphaA
  • AP-2beta
  • AP-2gamma
  • AREB6
  • Meis-1
  • Meis-1a
  • Meis-1b
  • STAT3

Genomic Locations for ZNRF1 Gene

Genomic Locations for ZNRF1 Gene
chr16:74,999,024-75,110,994
(GRCh38/hg38)
Size:
111,971 bases
Orientation:
Plus strand
chr16:75,032,915-75,144,892
(GRCh37/hg19)
Size:
111,978 bases
Orientation:
Plus strand

Genomic View for ZNRF1 Gene

Genes around ZNRF1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ZNRF1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ZNRF1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ZNRF1 Gene

Proteins for ZNRF1 Gene

  • Protein details for ZNRF1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8ND25-ZNRF1_HUMAN
    Recommended name:
    E3 ubiquitin-protein ligase ZNRF1
    Protein Accession:
    Q8ND25
    Secondary Accessions:
    • D3DUJ9
    • Q9H083

    Protein attributes for ZNRF1 Gene

    Size:
    227 amino acids
    Molecular mass:
    23783 Da
    Quaternary structure:
    • Interacts with AKT1, GLUL and TUBB2A.

    Three dimensional structures from OCA and Proteopedia for ZNRF1 Gene

    Alternative splice isoforms for ZNRF1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ZNRF1 Gene

Selected DME Specific Peptides for ZNRF1 Gene

Q8ND25:
  • CSKSVAS
  • HFIMCLSKPRLSYNDDVL
  • QGDTIARLPCLCIYHK

Post-translational modifications for ZNRF1 Gene

  • Ubiquitination at Lys150 and Lys167
  • Modification sites at PhosphoSitePlus

Domains & Families for ZNRF1 Gene

Gene Families for ZNRF1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Enzymes
  • Predicted intracellular proteins

Protein Domains for ZNRF1 Gene

InterPro:
Blocks:
  • Zn-finger, RING
ProtoNet:

Suggested Antigen Peptide Sequences for ZNRF1 Gene

GenScript: Design optimal peptide antigens:
  • Zinc/RING finger protein 1 (ZNRF1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q8ND25

UniProtKB/Swiss-Prot:

ZNRF1_HUMAN :
  • The RING-type zinc finger domain is required for E3 ligase activity.
Domain:
  • The RING-type zinc finger domain is required for E3 ligase activity.
genes like me logo Genes that share domains with ZNRF1: view

Function for ZNRF1 Gene

Molecular function for ZNRF1 Gene

UniProtKB/Swiss-Prot Function:
E3 ubiquitin-protein ligase that mediates the ubiquitination of AKT1 and GLUL, thereby playing a role in neuron cells differentiation. Plays a role in the establishment and maintenance of neuronal transmission and plasticity. Regulates Schwann cells differentiation by mediating ubiquitination of GLUL. Promotes neurodegeneration by mediating 'Lys-48'-linked polyubiquitination and subsequent degradation of AKT1 in axons: degradation of AKT1 prevents AKT1-mediated phosphorylation of GSK3B, leading to GSK3B activation and phosphorylation of DPYSL2/CRMP2 followed by destabilization of microtubule assembly in axons (Probable).
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=S-ubiquitinyl-[E2 ubiquitin-conjugating enzyme]-L-cysteine + [acceptor protein]-L-lysine = [E2 ubiquitin-conjugating enzyme]-L-cysteine + N(6)-ubiquitinyl-[acceptor protein]-L-lysine.; EC=2.3.2.27;.

Enzyme Numbers (IUBMB) for ZNRF1 Gene

Phenotypes From GWAS Catalog for ZNRF1 Gene

Gene Ontology (GO) - Molecular Function for ZNRF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004842 ubiquitin-protein transferase activity ISS --
GO:0005515 protein binding IPI 19549727
GO:0016740 transferase activity IEA --
GO:0046872 metal ion binding IEA --
GO:0061630 ubiquitin protein ligase activity IDA 22797923
genes like me logo Genes that share ontologies with ZNRF1: view
genes like me logo Genes that share phenotypes with ZNRF1: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ZNRF1

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for ZNRF1 Gene

Localization for ZNRF1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ZNRF1 Gene

Endosome. Lysosome. Membrane. Peripheral membrane protein. Cytoplasmic vesicle, secretory vesicle, synaptic vesicle membrane. Peripheral membrane protein. Note=Associated with synaptic vesicle membranes in neurons.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ZNRF1 gene
Compartment Confidence
cytosol 5
endosome 4
lysosome 3
extracellular 2
mitochondrion 2
plasma membrane 1
cytoskeleton 1
nucleus 1
peroxisome 0

Gene Ontology (GO) - Cellular Components for ZNRF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005764 lysosome IEA --
GO:0005768 endosome IDA --
GO:0005829 cytosol IDA,TAS --
GO:0016020 membrane IDA 22797923
GO:0030054 cell junction IEA --
genes like me logo Genes that share ontologies with ZNRF1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for ZNRF1 Gene

Pathways & Interactions for ZNRF1 Gene

genes like me logo Genes that share pathways with ZNRF1: view

UniProtKB/Swiss-Prot Q8ND25-ZNRF1_HUMAN

  • Pathway: Protein modification; protein ubiquitination.

Gene Ontology (GO) - Biological Process for ZNRF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000209 protein polyubiquitination TAS --
GO:0016567 protein ubiquitination IEA --
GO:0043161 proteasome-mediated ubiquitin-dependent protein catabolic process ISS --
GO:0070936 protein K48-linked ubiquitination ISS --
genes like me logo Genes that share ontologies with ZNRF1: view

No data available for SIGNOR curated interactions for ZNRF1 Gene

Drugs & Compounds for ZNRF1 Gene

(3) Drugs for ZNRF1 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Phosphoric acid Approved Pharma 0
Adenosine monophosphate Approved, Investigational Nutra 0
ATP Investigational Nutra Agonist, Activator, Partial agonist, Antagonist, Full agonist, Gating inhibitor, Pore Blocker, Potentiation 0

(1) Additional Compounds for ZNRF1 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
pyrophosphate
  • [(ho)2P(O)OP(O)(OH)2]
  • Acide diphosphorique
  • Diphosphorsaeure
  • H4P2O7
  • PYROphosphATE
14000-31-8
genes like me logo Genes that share compounds with ZNRF1: view

Transcripts for ZNRF1 Gene

mRNA/cDNA for ZNRF1 Gene

1 REFSEQ mRNAs :
10 NCBI additional mRNA sequence :
11 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ZNRF1

Alternative Splicing Database (ASD) splice patterns (SP) for ZNRF1 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7 ^ 8a · 8b
SP1: - -
SP2: - - -
SP3: - - - -
SP4: -
SP5:

Relevant External Links for ZNRF1 Gene

GeneLoc Exon Structure for
ZNRF1

Expression for ZNRF1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for ZNRF1 Gene

Protein differential expression in normal tissues from HIPED for ZNRF1 Gene

This gene is overexpressed in Adipocyte (60.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for ZNRF1 Gene



Protein tissue co-expression partners for ZNRF1 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ZNRF1

SOURCE GeneReport for Unigene cluster for ZNRF1 Gene:

Hs.427284

mRNA Expression by UniProt/SwissProt for ZNRF1 Gene:

Q8ND25-ZNRF1_HUMAN
Tissue specificity: Expressed primarily in the nervous system, with expression higher in developing brain relative to adult. Expressed at low levels in testis and thymus.

Evidence on tissue expression from TISSUES for ZNRF1 Gene

  • Lung(4.6)
  • Nervous system(3.5)
genes like me logo Genes that share expression patterns with ZNRF1: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for ZNRF1 Gene

Orthologs for ZNRF1 Gene

This gene was present in the common ancestor of animals.

Orthologs for ZNRF1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia ZNRF1 30 31
  • 99.85 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia ZNRF1 30 31
  • 96.67 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia ZNRF1 30 31
  • 95.3 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Znrf1 30 17 31
  • 95.01 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Znrf1 30
  • 95.01 (n)
Platypus
(Ornithorhynchus anatinus)
Mammalia ZNRF1 31
  • 88 (a)
OneToOne
Chicken
(Gallus gallus)
Aves ZNRF1 30
  • 84.74 (n)
Lizard
(Anolis carolinensis)
Reptilia ZNRF1 31
  • 98 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia znrf1 30
  • 75.56 (n)
Zebrafish
(Danio rerio)
Actinopterygii znrf1 30 31
  • 78.45 (n)
OneToOne
zgc77896 30
Fruit Fly
(Drosophila melanogaster)
Insecta CG14435 31
  • 29 (a)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea Y71F9AL.10 31
  • 37 (a)
OneToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.3182 31
  • 31 (a)
OneToMany
Species where no ortholog for ZNRF1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Oppossum (Monodelphis domestica)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for ZNRF1 Gene

ENSEMBL:
Gene Tree for ZNRF1 (if available)
TreeFam:
Gene Tree for ZNRF1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for ZNRF1: view image

Paralogs for ZNRF1 Gene

Paralogs for ZNRF1 Gene

(1) SIMAP similar genes for ZNRF1 Gene using alignment to 5 proteins:

  • ZNRF1_HUMAN
  • H3BRB6_HUMAN
  • H3BUF0_HUMAN
  • J3KTB9_HUMAN
  • L8E9D1_HUMAN

Pseudogenes.org Pseudogenes for ZNRF1 Gene

genes like me logo Genes that share paralogs with ZNRF1: view

Variants for ZNRF1 Gene

Additional dbSNP identifiers (rs#s) for ZNRF1 Gene

Structural Variations from Database of Genomic Variants (DGV) for ZNRF1 Gene

Variant ID Type Subtype PubMed ID
dgv1368n106 CNV deletion 24896259
esv1789347 CNV deletion 17803354
esv2714703 CNV deletion 23290073
esv2714704 CNV deletion 23290073
esv3003 CNV loss 18987735
esv3639081 CNV gain 21293372
esv3639082 CNV gain 21293372
nsv103814 CNV deletion 16902084
nsv1878 CNV insertion 18451855
nsv833280 CNV loss 17160897

Variation tolerance for ZNRF1 Gene

Gene Damage Index Score: 2.23; 40.14% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ZNRF1 Gene

Human Gene Mutation Database (HGMD)
ZNRF1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ZNRF1

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ZNRF1 Gene

Disorders for ZNRF1 Gene

MalaCards: The human disease database

(2) MalaCards diseases for ZNRF1 Gene - From: DISEASES

Disorder Aliases PubMed IDs
b-cell adult acute lymphocytic leukemia
  • adult b acute lymphoblastic leukaemia
intermittent explosive disorder
  • explosive personality disorder
- elite association - COSMIC cancer census association via MalaCards
Search ZNRF1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for ZNRF1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with ZNRF1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for ZNRF1 Gene

Publications for ZNRF1 Gene

  1. Fine mapping and association studies of a high-density lipoprotein cholesterol linkage region on chromosome 16 in French-Canadian subjects. (PMID: 19844255) Dastani Z … Genest J (European journal of human genetics : EJHG 2010) 3 41
  2. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4
  3. ZNRF proteins constitute a family of presynaptic E3 ubiquitin ligases. (PMID: 14561866) Araki T … Milbrandt J (The Journal of neuroscience : the official journal of the Society for Neuroscience 2003) 3 4
  4. Toward a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs. (PMID: 11230166) Wiemann S … Poustka A (Genome research 2001) 3 4
  5. Identification of genes induced in peripheral nerve after injury. Expression profiling and novel gene discovery. (PMID: 11427537) Araki T … Milbrandt J (The Journal of biological chemistry 2001) 3 4

Products for ZNRF1 Gene

Sources for ZNRF1 Gene