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

Summary

Official Symbol: RNF41provided by HGNC
Official Full Name: ring finger protein 41provided by HGNC
Primary source: HGNC:HGNC:18401
See related: Ensembl:ENSG00000181852 MIM:620051; AllianceGenome:HGNC:18401
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: mouse all
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Genomic context

Location:: 12q13.3

Exon count:: 10

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	12	NC_000012.12 (56202179..56221969, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	12	NC_060936.1 (56169789..56189589, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	12	NC_000012.11 (56595963..56615753, complement)

Chromosome 12 - NC_000012.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Correlation between neuregulin receptor degradation protein-1 and Crohn's disease.
Title: Correlation between neuregulin receptor degradation protein-1 and Crohn's disease.
m[6]A-modified circFNDC3B inhibits colorectal cancer stemness and metastasis via RNF41-dependent ASB6 degradation.
Title: m(6)A-modified circFNDC3B inhibits colorectal cancer stemness and metastasis via RNF41-dependent ASB6 degradation.
Genome-wide association study in the Taiwan Biobank identifies four novel genes for human height: NABP2, RASA2, RNF41 and SLC39A5.
Title: Genome-wide association study in the Taiwan Biobank identifies four novel genes for human height: NABP2, RASA2, RNF41 and SLC39A5.
Low HER3 expression is suggested to be a valuable prognostic biomarker to predict recurrence in HER2-amplified breast cancer.
Title: Clinicopathological and prognostic correlations of HER3 expression and its degradation regulators, NEDD4-1 and NRDP1, in primary breast cancer.
RNF41 is essential to IFNI pathway activation in order to maintain muscle insulin sensitivity during human obesity.
Title: Decreased RNF41 expression leads to insulin resistance in skeletal muscle of obese women.
Data (including data from studies using knockout and transgenic mice/cells) suggest that CLEC16A, NRDP1, and USP8 form tripartite complex; CLEC16A-NRDP1-USP8 complex appears to rely on ubiquitin signals to promote mitophagy and maintain mitochondrial function necessary for beta-cell function. (CLEC16A = C-type lectin domain family 16 member A; NRDP1 = ubiquitin-protein ligase NRDP1; USP8 = ubiquitin specific peptidase 8)
Title: Clec16a, Nrdp1, and USP8 Form a Ubiquitin-Dependent Tripartite Complex That Regulates β-Cell Mitophagy.
Over-expression of miR-497 promotes the proliferation of glioma cells U87 by targeting Nrdp1.
Title: [Over-expression of miR-497 promotes the proliferation of U87 glioma cells by targeting neuregulin receptor degradation protein 1].
Authors conclude that the planar cell polarity (PCP) pathway contributes significantly to the motility and hence the invasiveness of glioblastoma multiforme (GBM) cells, and that Nrdp1 acts as a negative regulator of PCP signaling by inhibiting Dvl through a novel polyubiquitination mechanism.
Title: Suppression of planar cell polarity signaling and migration in glioblastoma by Nrdp1-mediated Dvl polyubiquitination.
Data suggest that PHLPP1 plays an important role in assembly of kinetochores by counteracting RNF41-mediated SGT1 degradation. (PHLPP1 = PH domain and leucine rich repeat protein phosphatase 1; RNF41 = ring finger protein 41; SGT1 = suppressor of G2 allele of SKP1)
Title: Interplay between the phosphatase PHLPP1 and E3 ligase RNF41 stimulates proper kinetochore assembly via the outer-kinetochore protein SGT1.
Results show low expression level of NRDP1 in colorectal neoplasm independently of tumor stage.
Title: KITENIN functions as a fine regulator of ErbB4 expression level in colorectal cancer via protection of ErbB4 from E3-ligase Nrdp1-mediated degradation.

Submit: New GeneRIF Correction See all GeneRIFs (32)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

GDB:434012 (e-PCR)
- UniSTS:157204

A002D43 (e-PCR)
- UniSTS:3098

G19966 (e-PCR)
- UniSTS:3099

PMC156606P1 (e-PCR)
- UniSTS:271408

D8S2278 (e-PCR)
- UniSTS:473906

D8S2279 (e-PCR)
- UniSTS:473907

D10S16 (e-PCR)
- UniSTS:155756

RH48368 (e-PCR)
- UniSTS:14467

RNF41_1849 (e-PCR)
- UniSTS:280974

D11S3114 (e-PCR)
- UniSTS:152207

L17971 (e-PCR)
- UniSTS:43966

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables erythropoietin receptor binding	IEA Inferred from Electronic Annotation more info
enables identical protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables interleukin-3 receptor binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein domain specific binding	IPI Inferred from Physical Interaction more info	PubMed
enables receptor tyrosine kinase binding	IPI Inferred from Physical Interaction more info	PubMed
enables small GTPase binding	IPI Inferred from Physical Interaction more info	PubMed
enables ubiquitin protein ligase activity	IBA Inferred from Biological aspect of Ancestor more info
enables ubiquitin protein ligase activity	IDA Inferred from Direct Assay more info	PubMed
enables ubiquitin-protein transferase activity	IDA Inferred from Direct Assay more info	PubMed
enables ubiquitin-protein transferase activity	TAS Traceable Author Statement more info
enables zinc ion binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in autophagy	IEA Inferred from Electronic Annotation more info
involved_in extrinsic apoptotic signaling pathway	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within negative regulation of cell migration	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within negative regulation of cell population proliferation	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of mitophagy	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of protein catabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of reactive oxygen species metabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in proteasomal protein catabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in protein autoubiquitination	IDA Inferred from Direct Assay more info	PubMed
involved_in protein polyubiquitination	IDA Inferred from Direct Assay more info	PubMed
involved_in protein ubiquitination	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within regulation of MAPK cascade	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of lymphocyte differentiation	IEA Inferred from Electronic Annotation more info
involved_in regulation of myeloid cell differentiation	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of reactive oxygen species metabolic process	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in cytosol	TAS Traceable Author Statement more info
is_active_in endoplasmic reticulum tubular network	IBA Inferred from Biological aspect of Ancestor more info
located_in endoplasmic reticulum tubular network	IDA Inferred from Direct Assay more info	PubMed
located_in perinuclear region of cytoplasm	IDA Inferred from Direct Assay more info	PubMed

General protein information

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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

EC 2.3.2.27

NP_005776.1

EC 2.3.2.27

NP_919339.1

EC 2.3.2.27

NP_919340.1

EC 2.3.2.27

XP_047284010.1

EC 2.3.2.27

XP_054226708.1

EC 2.3.2.27

NCBI Reference Sequences (RefSeq)

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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)

NM_001242826.2 → NP_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

A6NFW0, B2RBT8, O75598, Q9H4P4

UniProtKB/TrEMBL

B4E353

Related

ENSP00000484671.1, ENST00000615206.4

Conserved Domains (2) summary

cd16634
Location:15 → 57

mRING-HC-C3HC3D_Nrdp1; Modified RING finger, HC subclass (C3HC3D-type), found in neuregulin receptor degradation protein-1 (Nrdp1) and similar proteins

pfam08941
Location:137 → 315

USP8_interact; USP8 interacting
NM_005785.4 → NP_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

A6NFW0, B2RBT8, O75598, Q9H4P4

UniProtKB/TrEMBL

B4E353

Related

ENSP00000342755.4, ENST00000345093.9

Conserved Domains (2) summary

cd16634
Location:15 → 57

mRING-HC-C3HC3D_Nrdp1; Modified RING finger, HC subclass (C3HC3D-type), found in neuregulin receptor degradation protein-1 (Nrdp1) and similar proteins

pfam08941
Location:137 → 315

USP8_interact; USP8 interacting
NM_194358.3 → NP_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/TrEMBL

B4DUQ8

Related

ENSP00000377581.2, ENST00000394013.6

Conserved Domains (1) summary

pfam08941
Location:66 → 244

USP8_interact; USP8 interacting
NM_194359.2 → NP_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

A6NFW0, B2RBT8, O75598, Q9H4P4

UniProtKB/TrEMBL

B4E353

Related

ENSP00000447303.1, ENST00000552656.5

Conserved Domains (2) summary

cd16634
Location:15 → 57

mRING-HC-C3HC3D_Nrdp1; Modified RING finger, HC subclass (C3HC3D-type), found in neuregulin receptor degradation protein-1 (Nrdp1) and similar proteins

pfam08941
Location:137 → 315

USP8_interact; USP8 interacting

RNA

NR_040053.2 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