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

    Gene ID: 255488, updated on 14-Nov-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, Nov 2024]
    Expression
    Broad expression in thyroid (RPKM 30.0), lung (RPKM 13.0) and 20 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See RNF144B in Genome Data Viewer
    Location:
    6p22.3
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (18387350..18468870)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (18259855..18340593)
    RS_2024_09 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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    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. The TP53-activated E3 ligase RNF144B is a tumour suppressor that prevents genomic instability.
      Title: The TP53-activated E3 ligase RNF144B is a tumour suppressor that prevents genomic instability.
    2. 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.
    3. 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.
    4. 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.
    5. Low RNF144B expression is associated with gastric cancer.
      Title: miR-100 antagonism triggers apoptosis by inhibiting ubiquitination-mediated p53 degradation.
    6. 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.
    7. 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.
    8. 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.
    9. 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.
    10. 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.
    Submit: New GeneRIF Correction See all GeneRIFs (11)

    Phenotypes

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    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)

    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 ubiquitination IEA
    Inferred from Electronic Annotation
    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_2024_08

    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

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