Free for academic non-profit institutions. Other users need a Commercial license

Aliases for ZNRF1 Gene

Aliases for ZNRF1 Gene

  • Zinc And Ring Finger 1, E3 Ubiquitin Protein Ligase 2 3 5
  • Nerve Injury-Induced Gene 283 Protein 3 4
  • Zinc/RING Finger Protein 1 3 4
  • NIN283 3 4
  • Zinc And Ring Finger Protein 1 3
  • Zinc And Ring Finger 1 2
  • Nerve Injury Gene 283 3
  • EC 6.3.2.- 4
  • EC 6.3.2 63

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, E3 Ubiquitin Protein Ligase) is a Protein Coding gene. Among its related pathways are Immune System and Antigen processing- Ubiquitination and Proteasome degradation. 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 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

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ZNRF1 Gene

Genomics for ZNRF1 Gene

Regulatory Elements for ZNRF1 Gene

Promoters for ZNRF1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around ZNRF1 on UCSC Golden Path with GeneCards custom track

Genomic Location for ZNRF1 Gene

Chromosome:
16
Start:
74,999,017 bp from pter
End:
75,110,994 bp from pter
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.

    Alternative splice isoforms for ZNRF1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ZNRF1 Gene

Proteomics data for ZNRF1 Gene at MOPED

Selected DME Specific Peptides for ZNRF1 Gene

Post-translational modifications for ZNRF1 Gene

  • Ubiquitination at Lys 150 and Lys 167
  • Modification sites at PhosphoSitePlus

Other Protein References for ZNRF1 Gene

Domains & Families for ZNRF1 Gene

Gene Families for ZNRF1 Gene

Protein Domains for ZNRF1 Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for ZNRF1 Gene

GenScript: Design optimal peptide antigens:

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.
  • Contains 1 RING-type zinc finger.
Domain:
  • The RING-type zinc finger domain is required for E3 ligase activity.
Similarity:
  • Contains 1 RING-type zinc finger.
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).

Enzyme Numbers (IUBMB) 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 TAS --
GO:0016874 ligase activity IEA --
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

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
Jensen Localization Image for ZNRF1 Gene COMPARTMENTS Subcellular localization image for ZNRF1 gene
Compartment Confidence
cytosol 5
endosome 4
lysosome 3
vacuole 3
extracellular 2
mitochondrion 2
nucleus 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for ZNRF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005768 endosome IDA --
GO:0016020 membrane IDA 22797923
GO:0030672 synaptic vesicle membrane IEA --
genes like me logo Genes that share ontologies with ZNRF1: view

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

None

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
Adenosine monophosphate Approved Nutra 0
Adenosine triphosphate Approved Nutra 0
Diphosphate Experimental Pharma 0

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
phosphoric acid
  • Acide phosphorique (FRENCH)
  • Acido fosforico [Italian]
  • Acidum phosphoricum
  • Diphosphate tetrasodium
  • Fosforzuuroplossingen [Dutch]
7664-38-2
genes like me logo Genes that share compounds with ZNRF1: view

Transcripts for ZNRF1 Gene

Unigene Clusters for ZNRF1 Gene

Zinc and ring finger 1, E3 ubiquitin protein ligase:
Representative Sequences:

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
ECgene alternative splicing isoforms for
ZNRF1

Expression for ZNRF1 Gene

mRNA expression in normal human tissues 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, PaxDb, MOPED, and MaxQB for ZNRF1 Gene



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.
genes like me logo Genes that share expression patterns with ZNRF1: view

Protein tissue co-expression partners for ZNRF1 Gene

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues 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 35
  • 99.85 (n)
  • 100 (a)
ZNRF1 36
  • 82 (a)
OneToOne
cow
(Bos Taurus)
Mammalia ZNRF1 36
  • 97 (a)
OneToOne
ZNRF1 35
  • 95.3 (n)
  • 97.36 (a)
dog
(Canis familiaris)
Mammalia ZNRF1 35
  • 96.67 (n)
  • 100 (a)
ZNRF1 36
  • 100 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Znrf1 16
Znrf1 36
  • 99 (a)
OneToOne
Znrf1 35
  • 95.01 (n)
  • 99.12 (a)
platypus
(Ornithorhynchus anatinus)
Mammalia ZNRF1 36
  • 88 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Znrf1 35
  • 95.01 (n)
  • 98.68 (a)
chicken
(Gallus gallus)
Aves ZNRF1 35
  • 84.74 (n)
  • 90.85 (a)
lizard
(Anolis carolinensis)
Reptilia ZNRF1 36
  • 98 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia znrf1 35
  • 75.56 (n)
  • 81.54 (a)
zebrafish
(Danio rerio)
Actinopterygii znrf1 36
  • 83 (a)
OneToOne
zgc77896 35
znrf1 35
  • 78.45 (n)
  • 86.51 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG14435 36
  • 29 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea Y71F9AL.10 36
  • 37 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.3182 36
  • 31 (a)
OneToMany
Species with no ortholog for ZNRF1:
  • A. gosspyii yeast (Ashbya 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 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)

Paralogs for ZNRF1 Gene

Paralogs for ZNRF1 Gene

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

Pseudogenes.org Pseudogenes for ZNRF1 Gene

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

Variants for ZNRF1 Gene

Sequence variations from dbSNP and Humsavar for ZNRF1 Gene

SNP ID Clin Chr 16 pos Sequence Context AA Info Type
rs3135 -- 75,011,289(+) ATATT(A/G)TTCTA intron-variant
rs989925 -- 75,107,162(-) GGGGA(C/T)GTGTG intron-variant
rs1135533 -- 75,050,292(+) aggtc(A/G)aggcg intron-variant
rs2000756 -- 75,057,501(+) GTCTT(A/T)CAGGT intron-variant
rs2156276 -- 75,031,475(-) aaaaa(A/T)TTTTT intron-variant

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

Variant ID Type Subtype PubMed ID
nsv833280 CNV Loss 17160897
nsv906908 CNV Loss 21882294
nsv103814 CNV Loss 16902084
nsv1878 CNV Insertion 18451855
esv2714703 CNV Deletion 23290073
esv3003 CNV Deletion 18987735
esv2714704 CNV Deletion 23290073
esv1789347 CNV Deletion 17803354

Variation tolerance for ZNRF1 Gene

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

Relevant External Links for ZNRF1 Gene

HapMap Linkage Disequilibrium report
ZNRF1
Human Gene Mutation Database (HGMD)
ZNRF1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ZNRF1 Gene

Disorders for ZNRF1 Gene

Relevant External Links for ZNRF1

Genetic Association Database (GAD)
ZNRF1
Human Genome Epidemiology (HuGE) Navigator
ZNRF1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ZNRF1

No disorders were found for ZNRF1 Gene.

No data available for MalaCards , 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. (Eur. J. Hum. Genet. 2010) 3 48 67
  2. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3
  3. Multidimensional prognostic risk assessment identifies association between IL12B variation and surgery in Crohn's disease. (PMID: 23665963) Dubinsky M.C. … McGovern D.P. (Inflamm. Bowel Dis. 2013) 3
  4. ZNRF2 is released from membranes by growth factors and, together with ZNRF1, regulates the Na+/K+ATPase. (PMID: 22797923) Hoxhaj G. … MacKintosh C. (J. Cell. Sci. 2012) 3
  5. Maturation of human dendritic cells is accompanied by functional remodelling of the ubiquitin-proteasome system. (PMID: 19028597) Ebstein F. … Kloetzel P.-M. (Int. J. Biochem. Cell Biol. 2009) 3

Products for ZNRF1 Gene

Sources for ZNRF1 Gene

Back to Top

Content