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ZNRF1 zinc and ring finger 1 [ Homo sapiens (human) ]

Gene ID: 84937, updated on 21-Dec-2019

Summary

Official Symbol
ZNRF1provided by HGNC
Official Full Name
zinc and ring finger 1provided by HGNC
Primary source
HGNC:HGNC:18452
See related
Ensembl:ENSG00000186187 MIM:612060
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
Also known as
NIN283
Summary
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]
Expression
Ubiquitous expression in testis (RPKM 4.3), thyroid (RPKM 4.3) and 25 other tissues See more
Orthologs

Genomic context

See ZNRF1 in Genome Data Viewer
Location:
16q23.1
Exon count:
7
Annotation release Status Assembly Chr Location
109.20191205 current GRCh38.p13 (GCF_000001405.39) 16 NC_000016.10 (74999024..75110994)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (75032915..75144892)

Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105371343 Neighboring gene WD repeat domain 59 Neighboring gene lactate dehydrogenase D Neighboring gene ZFP1 zinc finger protein

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
Multidimensional prognostic risk assessment identifies association between IL12B variation and surgery in Crohn's disease.
NHGRI GWA Catalog

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ14846, FLJ46491, MGC15430, DKFZp434E229

Gene Ontology Provided by GOA

Function Evidence Code Pubs
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
ubiquitin protein ligase activity IDA
Inferred from Direct Assay
more info
PubMed 
ubiquitin-protein transferase activity ISS
Inferred from Sequence or Structural Similarity
more info
 
Process Evidence Code Pubs
proteasome-mediated ubiquitin-dependent protein catabolic process ISS
Inferred from Sequence or Structural Similarity
more info
 
protein K48-linked ubiquitination ISS
Inferred from Sequence or Structural Similarity
more info
 
protein polyubiquitination TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
cell junction IEA
Inferred from Electronic Annotation
more info
 
cytosol IDA
Inferred from Direct Assay
more info
PubMed 
cytosol TAS
Traceable Author Statement
more info
 
endosome IDA
Inferred from Direct Assay
more info
 
lysosome IEA
Inferred from Electronic Annotation
more info
 
membrane IDA
Inferred from Direct Assay
more info
PubMed 
synaptic vesicle membrane IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
E3 ubiquitin-protein ligase ZNRF1
Names
RING-type E3 ubiquitin transferase ZNRF1
nerve injury gene 283
nerve injury-induced gene 283 protein
zinc and ring finger 1, E3 ubiquitin protein ligase
zinc and ring finger protein 1
zinc/RING finger protein 1
NP_115644.1
XP_011521694.1
XP_016879282.1
XP_016879283.1

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_032268.5NP_115644.1  E3 ubiquitin-protein ligase ZNRF1

    See identical proteins and their annotated locations for NP_115644.1

    Status: REVIEWED

    Source sequence(s)
    AC092383, AC099508, AF378524
    Consensus CDS
    CCDS10912.1
    UniProtKB/Swiss-Prot
    Q8ND25
    Related
    ENSP00000335091.4, ENST00000335325.9
    Conserved Domains (1) summary
    cd16694
    Location:182227
    mRING-CH-C4HC2H_ZNRF1; Modified RING-CH finger, H2 subclass (C4HC2H-type), found in zinc/RING finger protein 1 (ZNRF1) and similar proteins

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20191205

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000016.10 Reference GRCh38.p13 Primary Assembly

    Range
    74999024..75110994
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017023793.1XP_016879282.1  E3 ubiquitin-protein ligase ZNRF1 isoform X1

    UniProtKB/Swiss-Prot
    Q8ND25
    Related
    ENSP00000456168.1, ENST00000566250.5
    Conserved Domains (1) summary
    cd16694
    Location:182227
    mRING-CH-C4HC2H_ZNRF1; Modified RING-CH finger, H2 subclass (C4HC2H-type), found in zinc/RING finger protein 1 (ZNRF1) and similar proteins
  2. XM_011523392.1XP_011521694.1  E3 ubiquitin-protein ligase ZNRF1 isoform X3

  3. XM_017023794.1XP_016879283.1  E3 ubiquitin-protein ligase ZNRF1 isoform X2

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