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

Gene ID: 63891, updated on 24-Nov-2020

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
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

Genomic context

See RNF123 in Genome Data Viewer
Location:
3p21.31
Exon count:
41
Annotation release Status Assembly Chr Location
109.20201120 current GRCh38.p13 (GCF_000001405.39) 3 NC_000003.12 (49688753..49721529)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (49726950..49758962)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene bassoon presynaptic cytomatrix protein Neighboring gene acylaminoacyl-peptide hydrolase Neighboring gene macrophage stimulating 1 Neighboring gene adhesion molecule with Ig like domain 3 Neighboring gene GDP-mannose pyrophosphorylase B Neighboring gene inositol hexakisphosphate kinase 1 Neighboring gene cytochrome c oxidase subunit 6C pseudogene 14 Neighboring gene PHD finger protein 5E pseudogene

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

Associated conditions

Description Tests
Common genetic variants associated with cognitive performance identified using the proxy-phenotype method.
GeneReviews: Not available

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ12565, MGC163504, DKFZp686C2222

Gene Ontology Provided by GOA

Function Evidence Code Pubs
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
ubiquitin-protein transferase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
protein deubiquitination TAS
Traceable Author Statement
more info
 
protein ubiquitination IEA
Inferred from Electronic Annotation
more info
 
proteolysis involved in cellular protein catabolic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytoplasm IDA
Inferred from Direct Assay
more info
 
cytosol IDA
Inferred from Direct Assay
more info
 
cytosol TAS
Traceable Author Statement
more info
 
nuclear membrane IDA
Inferred from Direct Assay
more info
 

General protein information

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
XP_006713348.1
XP_011532297.1
XP_016862507.1

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.

Genomic

  1. NG_011603.1 RefSeqGene

    Range
    5001..36973
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_022064.5NP_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
    Q5XPI4
    Related
    ENSP00000328287.6, ENST00000327697.11
    Conserved Domains (2) summary
    pfam13920
    Location:12501298
    zf-C3HC4_3; Zinc finger, C3HC4 type (RING finger)
    cd12882
    Location:123250
    SPRY_RNF123; SPRY domain at N-terminus of ring finger protein 123

RNA

  1. 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

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20201120

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000003.12 Reference GRCh38.p13 Primary Assembly

    Range
    49688753..49721529
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017007018.1XP_016862507.1  E3 ubiquitin-protein ligase RNF123 isoform X1

    UniProtKB/Swiss-Prot
    Q5XPI4
    Conserved Domains (2) summary
    pfam13920
    Location:12501298
    zf-C3HC4_3; Zinc finger, C3HC4 type (RING finger)
    cd12882
    Location:123250
    SPRY_RNF123; SPRY domain at N-terminus of ring finger protein 123
  2. XM_011533995.1XP_011532297.1  E3 ubiquitin-protein ligase RNF123 isoform X1

    See identical proteins and their annotated locations for XP_011532297.1

    UniProtKB/Swiss-Prot
    Q5XPI4
    Conserved Domains (2) summary
    pfam13920
    Location:12501298
    zf-C3HC4_3; Zinc finger, C3HC4 type (RING finger)
    cd12882
    Location:123250
    SPRY_RNF123; SPRY domain at N-terminus of ring finger protein 123
  3. XM_006713285.1XP_006713348.1  E3 ubiquitin-protein ligase RNF123 isoform X1

    See identical proteins and their annotated locations for XP_006713348.1

    UniProtKB/Swiss-Prot
    Q5XPI4
    Conserved Domains (2) summary
    pfam13920
    Location:12501298
    zf-C3HC4_3; Zinc finger, C3HC4 type (RING finger)
    cd12882
    Location:123250
    SPRY_RNF123; SPRY domain at N-terminus of ring finger protein 123

RNA

  1. XR_001740230.2 RNA Sequence

    Related
    ENST00000486102.5
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