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RNF41 ring finger protein 41 [ Homo sapiens (human) ]

Gene ID: 10193, updated on 9-Dec-2018

Summary

Official Symbol
RNF41provided by HGNC
Official Full Name
ring finger protein 41provided by HGNC
Primary source
HGNC:HGNC:18401
See related
Ensembl:ENSG00000181852
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
FLRF; NRDP1; SBBI03
Summary
This gene encodes an E3 ubiquitin ligase. The encoded protein plays a role in type 1 cytokine receptor signaling by controlling the balance between JAK2-associated cytokine receptor degradation and ectodomain shedding. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2011]
Expression
Ubiquitous expression in brain (RPKM 10.6), prostate (RPKM 9.7) and 25 other tissues See more
Orthologs

Genomic context

See RNF41 in Genome Data Viewer
Location:
12q13.3
Exon count:
10
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 12 NC_000012.12 (56202504..56221982, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (56596288..56615753, complement)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107984468 Neighboring gene transfer RNA-Ser (CGA) 4-1 Neighboring gene nucleic acid binding protein 2 Neighboring gene solute carrier family 39 member 5 Neighboring gene ankyrin repeat domain 52

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 FunctionsWhat's a GeneRIF?

Pathways from BioSystems

  • Adaptive Immune System, organism-specific biosystem (from REACTOME)
    Adaptive Immune System, organism-specific biosystemAdaptive immunity refers to antigen-specific immune response efficiently involved in clearing the pathogens. The adaptive immune system is comprised of B and T lymphocytes that express receptors with...
  • Antigen processing: Ubiquitination & Proteasome degradation, organism-specific biosystem (from REACTOME)
    Antigen processing: Ubiquitination & Proteasome degradation, organism-specific biosystemIntracellular foreign or aberrant host proteins are cleaved into peptide fragments of a precise size, such that they can be loaded on to class I MHC molecules and presented externally to cytotoxic T ...
  • Class I MHC mediated antigen processing & presentation, organism-specific biosystem (from REACTOME)
    Class I MHC mediated antigen processing & presentation, organism-specific biosystemMajor histocompatibility complex (MHC) class I molecules play an important role in cell mediated immunity by reporting on intracellular events such as viral infection, the presence of intracellular b...
  • Downregulation of ERBB2 signaling, organism-specific biosystem (from REACTOME)
    Downregulation of ERBB2 signaling, organism-specific biosystemSignaling by ERBB2 can be downregulated by ubiquitination and subsequent proteasome-dependent degradation of ERBB2 or activated ERBB2 heterodimers. In addition, protein tyrosine phosphatases that dep...
  • Downregulation of ERBB2:ERBB3 signaling, organism-specific biosystem (from REACTOME)
    Downregulation of ERBB2:ERBB3 signaling, organism-specific biosystemLevel of plasma membrane ERBB3 is regulated by E3 ubiquitin ligase RNF41 (also known as NRDP1), which binds and ubiquitinates both inactive and activated ERBB3, targeting it for degradation (Cao et a...
  • Endocytosis, organism-specific biosystem (from KEGG)
    Endocytosis, organism-specific biosystemEndocytosis is a mechanism for cells to remove ligands, nutrients, and plasma membrane (PM) proteins, and lipids from the cell surface, bringing them into the cell interior. Transmembrane proteins en...
  • Endocytosis, conserved biosystem (from KEGG)
    Endocytosis, conserved biosystemEndocytosis is a mechanism for cells to remove ligands, nutrients, and plasma membrane (PM) proteins, and lipids from the cell surface, bringing them into the cell interior. Transmembrane proteins en...
  • ErbB2/ErbB3 signaling events, organism-specific biosystem (from Pathway Interaction Database)
    ErbB2/ErbB3 signaling events, organism-specific biosystem
    ErbB2/ErbB3 signaling events
  • Immune System, organism-specific biosystem (from REACTOME)
    Immune System, organism-specific biosystemHumans are exposed to millions of potential pathogens daily, through contact, ingestion, and inhalation. Our ability to avoid infection depends on the adaptive immune system and during the first crit...
  • Regulation of toll-like receptor signaling pathway, organism-specific biosystem (from WikiPathways)
    Regulation of toll-like receptor signaling pathway, organism-specific biosystem
    Regulation of toll-like receptor signaling pathway
  • Signal Transduction, organism-specific biosystem (from REACTOME)
    Signal Transduction, organism-specific biosystemSignal transduction is a process in which extracellular signals elicit changes in cell state and activity. Transmembrane receptors sense changes in the cellular environment by binding ligands, such a...
  • Signaling by ERBB2, organism-specific biosystem (from REACTOME)
    Signaling by ERBB2, organism-specific biosystemERBB2, also known as HER2 or NEU, is a receptor tyrosine kinase (RTK) belonging to the EGFR family. ERBB2 possesses an extracellular domain that does not bind any known ligand, contrary to other EGFR...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC45228

Gene Ontology Provided by GOA

Function Evidence Code Pubs
Ral GTPase binding IPI
Inferred from Physical Interaction
more info
PubMed 
erythropoietin receptor binding IEA
Inferred from Electronic Annotation
more info
 
interleukin-3 receptor binding IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein domain specific binding IPI
Inferred from Physical Interaction
more info
PubMed 
receptor tyrosine kinase 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 IDA
Inferred from Direct Assay
more info
PubMed 
ubiquitin-protein transferase activity TAS
Traceable Author Statement
more info
 
zinc ion binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
autophagy IEA
Inferred from Electronic Annotation
more info
 
extrinsic apoptotic signaling pathway IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of cell migration IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of cell proliferation IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of mitophagy IEA
Inferred from Electronic Annotation
more info
 
positive regulation of DNA-binding transcription factor activity IEA
Inferred from Electronic Annotation
more info
 
positive regulation of protein catabolic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of reactive oxygen species metabolic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
proteasomal protein catabolic process IDA
Inferred from Direct Assay
more info
PubMed 
protein autoubiquitination IDA
Inferred from Direct Assay
more info
PubMed 
protein polyubiquitination IDA
Inferred from Direct Assay
more info
PubMed 
regulation of MAPK cascade IDA
Inferred from Direct Assay
more info
PubMed 
regulation of establishment of cell polarity IEA
Inferred from Electronic Annotation
more info
 
regulation of lymphocyte differentiation IEA
Inferred from Electronic Annotation
more info
 
regulation of myeloid cell differentiation IEA
Inferred from Electronic Annotation
more info
 
regulation of protein kinase B signaling IDA
Inferred from Direct Assay
more info
PubMed 
regulation of reactive oxygen species metabolic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
cytosol TAS
Traceable Author Statement
more info
 
endoplasmic reticulum tubular network IDA
Inferred from Direct Assay
more info
PubMed 
perinuclear region of cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
E3 ubiquitin-protein ligase NRDP1
Names
RING-type E3 ubiquitin transferase NRDP1
fetal liver ring finger
neuregulin receptor degradation protein-1
ring finger protein 41, E3 ubiquitin protein ligase
NP_001229755.1
NP_005776.1
NP_919339.1
NP_919340.1
XP_005268618.1
XP_011536036.1
XP_011536037.1

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_001242826.1NP_001229755.1  E3 ubiquitin-protein ligase NRDP1 isoform 1

    See identical proteins and their annotated locations for NP_001229755.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) differs in the 5' UTR compared to variant 1. Variants 1, 3 and 4 encode the same protein.
    Source sequence(s)
    AC073896, AK314811, BU170070, DC316022
    Consensus CDS
    CCDS8909.1
    UniProtKB/Swiss-Prot
    Q9H4P4
    UniProtKB/TrEMBL
    A0A024RB33
    Related
    ENSP00000484671.1, ENST00000615206.4
    Conserved Domains (2) summary
    pfam08941
    Location:137315
    USP8_interact; USP8 interacting
    cd16634
    Location:1557
    mRING-HC-C3HC3D_Nrdp1; Modified RING finger, HC subclass (C3HC3D-type), found in neuregulin receptor degradation protein-1 (Nrdp1) and similar proteins
  2. NM_005785.3NP_005776.1  E3 ubiquitin-protein ligase NRDP1 isoform 1

    See identical proteins and their annotated locations for NP_005776.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longer isoform (1). Variants 1, 3 and 4 encode the same protein.
    Source sequence(s)
    AC073896, BC036267, CB989647
    Consensus CDS
    CCDS8909.1
    UniProtKB/Swiss-Prot
    Q9H4P4
    UniProtKB/TrEMBL
    A0A024RB33
    Related
    ENSP00000342755.4, ENST00000345093.8
    Conserved Domains (2) summary
    pfam08941
    Location:137315
    USP8_interact; USP8 interacting
    cd16634
    Location:1557
    mRING-HC-C3HC3D_Nrdp1; Modified RING finger, HC subclass (C3HC3D-type), found in neuregulin receptor degradation protein-1 (Nrdp1) and similar proteins
  3. NM_194358.2NP_919339.1  E3 ubiquitin-protein ligase NRDP1 isoform 2

    See identical proteins and their annotated locations for NP_919339.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) includes an alternate exon in the 5' region and uses a downstream start codon compared to variant 1. The resulting isoform (2) has a shorter N-terminus compared to isoform 1.
    Source sequence(s)
    AC073896, BC024284, CB989647
    Consensus CDS
    CCDS8910.1
    UniProtKB/Swiss-Prot
    Q9H4P4
    Related
    ENSP00000377581.2, ENST00000394013.6
    Conserved Domains (1) summary
    pfam08941
    Location:66244
    USP8_interact; USP8 interacting
  4. NM_194359.2NP_919340.1  E3 ubiquitin-protein ligase NRDP1 isoform 1

    See identical proteins and their annotated locations for NP_919340.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR compared to variant 1. Variants 1, 3 and 4 encode the same protein.
    Source sequence(s)
    AC073896, BC032637, BP201682
    Consensus CDS
    CCDS8909.1
    UniProtKB/Swiss-Prot
    Q9H4P4
    UniProtKB/TrEMBL
    A0A024RB33
    Related
    ENSP00000447303.1, ENST00000552656.5
    Conserved Domains (2) summary
    pfam08941
    Location:137315
    USP8_interact; USP8 interacting
    cd16634
    Location:1557
    mRING-HC-C3HC3D_Nrdp1; Modified RING finger, HC subclass (C3HC3D-type), found in neuregulin receptor degradation protein-1 (Nrdp1) and similar proteins

RNA

  1. NR_040053.1 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) contains two alternate exons compared to variant 1. This transcript is sufficiently abundant to represent as a RefSeq record; however, the predicted protein is not represented because there is uncertainty about the protein-coding capacity of the transcript. Multiple potential start codons exist and translation of the longest ORF renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AC073896, BC095418, CB989647

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000012.12 Reference GRCh38.p12 Primary Assembly

    Range
    56202504..56221982 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011537735.3XP_011536037.1  E3 ubiquitin-protein ligase NRDP1 isoform X1

    See identical proteins and their annotated locations for XP_011536037.1

    UniProtKB/Swiss-Prot
    Q9H4P4
    Conserved Domains (1) summary
    pfam08941
    Location:66244
    USP8_interact; USP8 interacting
  2. XM_005268561.5XP_005268618.1  E3 ubiquitin-protein ligase NRDP1 isoform X1

    See identical proteins and their annotated locations for XP_005268618.1

    UniProtKB/Swiss-Prot
    Q9H4P4
    Conserved Domains (1) summary
    pfam08941
    Location:66244
    USP8_interact; USP8 interacting
  3. XM_011537734.3XP_011536036.1  E3 ubiquitin-protein ligase NRDP1 isoform X1

    See identical proteins and their annotated locations for XP_011536036.1

    UniProtKB/Swiss-Prot
    Q9H4P4
    Conserved Domains (1) summary
    pfam08941
    Location:66244
    USP8_interact; USP8 interacting

RNA

  1. XR_002957281.1 RNA Sequence

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