RNF123 ring finger protein 123 [Homo sapiens (human)] - Gene

Summary

Official Symbol: RNF123provided by HGNC
Official Full Name: ring finger protein 123provided by HGNC
Primary source: HGNC:HGNC:21148
See related: Ensembl:ENSG00000164068 MIM:614472; AllianceGenome:HGNC:21148
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: KPC1; FP1477
Summary: The protein encoded by this gene contains a C-terminal RING finger domain, a motif present in a variety of functionally distinct proteins and known to be involved in protein-protein and protein-DNA interactions, and an N-terminal SPRY domain. This protein displays E3 ubiquitin ligase activity toward the cyclin-dependent kinase inhibitor 1B which is also known as p27 or KIP1. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016]
Expression: Ubiquitous expression in bone marrow (RPKM 13.6), testis (RPKM 10.9) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 3p21.31

Exon count:: 39

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	3	NC_000003.12 (49689557..49721529)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	3	NC_060927.1 (49718842..49750815)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	3	NC_000003.11 (49726990..49758962)

Chromosome 3 - NC_000003.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

Project title: HPA RNA-seq normal tissues 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?

The Tumor Suppressor Functions of Ubiquitin Ligase KPC1: From Cell-Cycle Control to NF-kappaB Regulator.
Title: The Tumor Suppressor Functions of Ubiquitin Ligase KPC1: From Cell-Cycle Control to NF-κB Regulator.
A short binding site in the KPC1 ubiquitin ligase mediates processing of NF-kappaB1 p105 to p50: A potential for a tumor-suppressive PROTAC.
Title: A short binding site in the KPC1 ubiquitin ligase mediates processing of NF-κB1 p105 to p50: A potential for a tumor-suppressive PROTAC.
Genome-wide association study identifies RNF123 locus as associated with chronic widespread musculoskeletal pain.
Title: Genome-wide association study identifies RNF123 locus as associated with chronic widespread musculoskeletal pain.
Excess of the NF-kB p50 subunit generated by the ubiquitin ligase KPC1 suppresses tumors via PD-L1- and chemokines-mediated mechanisms.
Title: Excess of the NF-ĸB p50 subunit generated by the ubiquitin ligase KPC1 suppresses tumors via PD-L1- and chemokines-mediated mechanisms.
E3 ubiquitin ligase RNF123 targets LMNB1, Rb protein and LAP2alpha for proteasomal degradation.
Title: E3 ubiquitin ligase RNF123 targets lamin B1 and lamin-binding proteins.
Findings indicate epigenetic regulation of E3 ubiquitin ligase KPC1 associated with NF-kappa B (NF-kappaB) pathway activation, promoting metastatic melanoma progression.
Title: Epigenetic Regulation of KPC1 Ubiquitin Ligase Affects the NF-κB Pathway in Melanoma.
p27 and its cognate ubiquitin ligases, Skp2/KPC/Pirh2, are specifically involved in determining the clinical profiles of lung carcinomas.
Title: Regulation of p27 by ubiquitin ligases and its pathological significance in human lung carcinomas.
RNF123 functions as a novel inhibitor of innate antiviral signaling mediated by RIG-I and MDA5, a function that does not depend on its E3 ligase activity.
Title: RNF123 has an E3 ligase-independent function in RIG-I-like receptor-mediated antiviral signaling.
Suggest that RNF213 R4810K carriers have lower angiogenic capacities, indicating that they might be more susceptible to insults of cerebral hypoxia.
Title: Biochemical and Functional Characterization of RNF213 (Mysterin) R4810K, a Susceptibility Mutation of Moyamoya Disease, in Angiogenesis In Vitro and In Vivo.
Study identified KPC1 as the Ub ligase (E3) that binds to the ankyrin repeats domain of p105, ubiquitinates it, and mediates its processing both under basal conditions and following signaling. Overexpression of KPC1 inhibits tumor growth likely mediated via excessive generation of p50.
Title: KPC1-mediated ubiquitination and proteasomal processing of NF-κB1 p105 to p50 restricts tumor growth.

Submit: New GeneRIF Correction See all GeneRIFs (18)

Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Common genetic variants associated with cognitive performance identified using the proxy-phenotype method. EBI GWAS Catalog EBI GWAS CatalogPubMed

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

SHGC-149700 (e-PCR)
- UniSTS:177171

RH91732 (e-PCR)
- UniSTS:83732

RH65603 (e-PCR)
- UniSTS:49429

G54105 (e-PCR)
- UniSTS:109342

A005X28 (e-PCR)
- UniSTS:22331

A007E08 (e-PCR)
- UniSTS:33933

RH78461 (e-PCR)
- UniSTS:19364

RH78233 (e-PCR)
- UniSTS:25527

RH15941 (e-PCR)
- UniSTS:89021

GDB:180399 (e-PCR)
- UniSTS:155091

A004P45 (e-PCR)
- UniSTS:64468

D3S3810 (e-PCR)
- UniSTS:78826

MARC_17265-17266:1024683815:1 (e-PCR)
- UniSTS:268271

MARC_17265-17266:1032372309:1 (e-PCR)
- UniSTS:268271

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables ubiquitin protein ligase activity	IDA Inferred from Direct Assay more info	PubMed
enables ubiquitin-protein transferase activity	IBA Inferred from Biological aspect of Ancestor more info

Process	Evidence Code	Pubs
involved_in protein maturation	IDA Inferred from Direct Assay more info	PubMed
involved_in protein polyubiquitination	IDA Inferred from Direct Assay more info	PubMed
involved_in proteolysis involved in protein catabolic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in ubiquitin-dependent protein catabolic process	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
is_active_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in cytoplasm	IDA Inferred from Direct Assay more info
located_in cytosol	IDA Inferred from Direct Assay more info
located_in cytosol	TAS Traceable Author Statement more info
located_in nuclear membrane	IDA Inferred from Direct Assay more info

General protein information

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Preferred Names: E3 ubiquitin-protein ligase RNF123

Names: Kip1 ubiquitination-promoting complex subunit 1; RING-type E3 ubiquitin transferase RNF123; kip1 ubiquitination-promoting complex protein 1

NP_071347.2

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.

Genomic

NG_011603.1 RefSeqGene

Range

5001..36973

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_022064.5 → NP_071347.2 E3 ubiquitin-protein ligase RNF123

See identical proteins and their annotated locations for NP_071347.2

Status: REVIEWED

Description

Transcript Variant: This variant (1) encodes the supported protein.

Source sequence(s)

AC099668, BC088801, BC130632, BI596589

Consensus CDS

CCDS33758.1

UniProtKB/Swiss-Prot

A1L4Q3, A6NLS5, Q5I022, Q5XPI4, Q6PFW4, Q71RH0, Q8IW18, Q9H0M8, Q9H5L8, Q9H9T2

UniProtKB/TrEMBL

B3KU09

Related

ENSP00000328287.6, ENST00000327697.11

Conserved Domains (2) summary

pfam13920
Location:1250 → 1298

zf-C3HC4_3; Zinc finger, C3HC4 type (RING finger)

cd12882
Location:123 → 250

SPRY_RNF123; SPRY domain at N-terminus of ring finger protein 123

RNA

NR_135218.2 RNA Sequence

Status: REVIEWED

Description

Transcript Variant: This variant (2) uses an alternate splice site in an internal exon, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).

Source sequence(s)

AC099668, BC088801, BC112900

Related

ENST00000457726.5