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RNF144B ring finger protein 144B [ Homo sapiens (human) ]

Gene ID: 255488, updated on 5-Mar-2024

Summary

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Official Symbol
RNF144Bprovided by HGNC
Official Full Name
ring finger protein 144Bprovided by HGNC
Primary source
HGNC:HGNC:21578
See related
Ensembl:ENSG00000137393 MIM:618869; AllianceGenome:HGNC:21578
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
PIR2; IBRDC2; p53RFP; bA528A10.3
Summary
Enables ubiquitin-protein transferase activity. Involved in negative regulation of apoptotic process and ubiquitin-dependent protein catabolic process. Located in mitochondrial membrane. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Broad expression in thyroid (RPKM 30.0), lung (RPKM 13.0) and 20 other tissues See more
Orthologs
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Genomic context

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Location:
6p22.3
Exon count:
8
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (18387350..18468870)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (18259855..18340593)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (18387581..18469101)

Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene inosine monophosphate dehydrogenase 1 pseudogene 9 Neighboring gene DEAD-box helicase 18 pseudogene 3 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24121 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24122 Neighboring gene small nucleolar RNA U13 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr6:18414863-18416062 Neighboring gene uncharacterized LOC124901271 Neighboring gene uncharacterized LOC105374955 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr6:18527823-18528458 Neighboring gene MIR548A1 host gene Neighboring gene VISTA enhancer hs1052 Neighboring gene microRNA 548a-1

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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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Related articles in PubMed

  1. Pir2/Rnf144b is a potential endometrial cancer biomarker that promotes cell proliferation. Zhou Q, et al. Cell Death Dis, 2018 May 1. PMID 29724995, Free PMC Article
  2. miR-100 antagonism triggers apoptosis by inhibiting ubiquitination-mediated p53 degradation. Yang G, et al. Oncogene, 2017 Feb 23. PMID 27524417
  3. RNF144B stimulates the proliferation and inhibits the apoptosis of human spermatogonial stem cells via the FCER2/NOTCH2/HES1 pathway and its abnormality is associated with azoospermia. Du L, et al. J Cell Physiol, 2022 Sep. PMID 35699595
  4. PIR2/Rnf144B regulates epithelial homeostasis by mediating degradation of p21WAF1 and p63. Conforti F, et al. Oncogene, 2013 Oct. PMID 23128396
  5. IBRDC2, an IBR-type E3 ubiquitin ligase, is a regulatory factor for Bax and apoptosis activation. Benard G, et al. EMBO J, 2010 Apr 21. PMID 20300062, Free PMC Article

See all (27) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. RNF144B stimulates the proliferation and inhibits the apoptosis of human spermatogonial stem cells via the FCER2/NOTCH2/HES1 pathway and its abnormality is associated with azoospermia.
    Title: RNF144B stimulates the proliferation and inhibits the apoptosis of human spermatogonial stem cells via the FCER2/NOTCH2/HES1 pathway and its abnormality is associated with azoospermia.
  2. Our study identifies that RNF144B interaction with TBK1 is sufficient to inactivate TBK1 and delineates a previously unrecognized role for RNF144B in innate immune responses.
    Title: RNF144B inhibits LPS-induced inflammatory responses via binding TBK1.
  3. Inactivation of GSK3beta activity is associated with loss of PIR2 protein and consequent inhibition of cell proliferation in endometrial cancer cells.
    Title: Pir2/Rnf144b is a potential endometrial cancer biomarker that promotes cell proliferation.
  4. Low RNF144B expression is associated with gastric cancer.
    Title: miR-100 antagonism triggers apoptosis by inhibiting ubiquitination-mediated p53 degradation.
  5. findings substantiate PIR2/Rnf144b as a potentially critical component of epithelial homeostasis, acting downstream of DeltaNp63alpha to regulate cellular levels of p21(WAF1/CIP1) and DeltaNp63alpha
    Title: PIR2/Rnf144B regulates epithelial homeostasis by mediating degradation of p21WAF1 and p63.
  6. PIR2, by being induced by TAp73 and degrading DeltaNp73, differentially regulates TAp73/DeltaNp73 stability.
    Title: Differential control of TAp73 and DeltaNp73 protein stability by the ring finger ubiquitin ligase PIR2.
  7. PIR2/RNF144B/IBRDC2 regulates the stability of TAp73 and DNp73.
    Title: Differential control of TAp73 and DeltaNp73 protein stability by the ring finger ubiquitin ligase PIR2.
  8. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
    Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
  9. IBRDC2, an IBR-type RING-finger E3 ubiquitin ligase, regulates the levels of Bax and protects cells from unprompted Bax. activation and cell death.
    Title: IBRDC2, an IBR-type E3 ubiquitin ligase, is a regulatory factor for Bax and apoptosis activation.
  10. p53RFP, a p53-inducible RING-finger protein, regulates the stability of p21WAF1.
    Title: p53RFP, a p53-inducible RING-finger protein, regulates the stability of p21WAF1.
Submit: New GeneRIF Correction

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

EBI GWAS Catalog

Description
Genome-wide association study link novel loci to endometriosis.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • KIAA0161, MGC71786

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables ubiquitin conjugating enzyme binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables ubiquitin protein ligase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables ubiquitin-protein transferase activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables zinc ion binding IEA
Inferred from Electronic Annotation
more info
  
Process Evidence Code Pubs
involved_in apoptotic process IEA
Inferred from Electronic Annotation
more info
  
involved_in negative regulation of apoptotic process IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in protein polyubiquitination IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in ubiquitin-dependent 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
  
located_in cytoplasm IDA
Inferred from Direct Assay
more info
 PubMed 
located_in cytosol TAS
Traceable Author Statement
more info
  
is_active_in mitochondrial membrane IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in mitochondrial membrane IDA
Inferred from Direct Assay
more info
 PubMed 
part_of ubiquitin ligase complex IBA
Inferred from Biological aspect of Ancestor
more info
  
part_of ubiquitin ligase complex IC
Inferred by Curator
more info
 PubMed 

General protein information

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Preferred Names
E3 ubiquitin-protein ligase RNF144B
Names
IBR domain containing 2
IBR domain-containing protein 2
p53-inducible RING finger protein
NP_877434.2
XP_047274550.1
XP_054211039.1

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)

  1. NM_182757.4 → NP_877434.2  E3 ubiquitin-protein ligase RNF144B

    See identical proteins and their annotated locations for NP_877434.2

    Status: VALIDATED

    Source sequence(s)
    AK096832, AL138725
    Consensus CDS
    CCDS34345.1
    UniProtKB/Swiss-Prot
    B3KUA8, B4DZI2, Q5TB85, Q6P4Q0, Q7Z419, Q8N3R7, Q9BX38
    Related
    ENSP00000259939.4, ENST00000259939.4
    Conserved Domains (3) summary
    smart00647
    Location:101 → 166
    IBR; In Between Ring fingers
    cd16778
    Location:28 → 84
    mRING-HC-C4C4_RBR_RNF144B; Modified RING finger, HC subclass (C4C4-type), found in RING finger protein 144B (RNF144B)
    pfam01485
    Location:190 → 225
    IBR; IBR domain, a half RING-finger domain

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000006.12 Reference GRCh38.p14 Primary Assembly

    Range
    18387350..18468870
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047418594.1 → XP_047274550.1  E3 ubiquitin-protein ligase RNF144B isoform X1

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060930.1 Alternate T2T-CHM13v2.0

    Range
    18259855..18340593
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054355064.1 → XP_054211039.1  E3 ubiquitin-protein ligase RNF144B isoform X1

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q7Z419.1 GenPept UniProtKB/Swiss-Prot:Q7Z419

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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