U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Links from dbVar

    • Showing Current items.

    PJA1 praja ring finger ubiquitin ligase 1 [ Homo sapiens (human) ]

    Gene ID: 64219, updated on 5-Mar-2024

    Summary

    Go to the top of the page Help
    Official Symbol
    PJA1provided by HGNC
    Official Full Name
    praja ring finger ubiquitin ligase 1provided by HGNC
    Primary source
    HGNC:HGNC:16648
    See related
    Ensembl:ENSG00000181191 MIM:300420; AllianceGenome:HGNC:16648
    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
    RNF70; PRAJA1
    Summary
    This gene encodes an enzyme that has E2-dependent E3 ubiquitin-protein ligase activity. This enzyme belongs to a class of ubiquitin ligases that include a RING finger motif, and it can interact with the E2 ubiquitin-conjugating enzyme UbcH5B. This gene is located in an area of chromosome X where several X-linked cognitive disability disorders have been associated, and it has also been found as part of a contiguous gene deletion associated with craniofrontonasal syndrome, though a direct link to any disorder has yet to be demonstrated. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2010]
    Expression
    Broad expression in brain (RPKM 23.0), testis (RPKM 16.5) and 24 other tissues See more
    Orthologs
    mouse all
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    Go to the top of the page Help
    Location:
    Xq13.1
    Exon count:
    3
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (69160746..69165453, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (67594126..67598833, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (68380589..68385296, complement)

    Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124905196 Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:68324595-68325188 Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:68325189-68325781 Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:68341652-68342161 Neighboring gene uncharacterized LOC107985646 Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:68359013-68359935 Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:68359936-68360857 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chrX:68369986-68371185 Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:68378265-68378764 Neighboring gene high mobility group nucleosome binding domain 1 pseudogene 35 Neighboring gene long intergenic non-protein coding RNA 269 Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:68409565-68410066 Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:68410067-68410566

    Genomic regions, transcripts, and products

    Go to the top of the page Help

    Go to nucleotide: Graphics FASTA GenBank

    Expression

    Go to the top of the page Help
    • 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

    Go to the top of the pageHelp

    Related articles in PubMed

    1. A recurrent PJA1 variant in trigonocephaly and neurodevelopmental disorders. Suzuki T, et al. Ann Clin Transl Neurol, 2020 Jul. PMID 32530565, Free PMC Article
    2. Contiguous gene deletions involving EFNB1, OPHN1, PJA1 and EDA in patients with craniofrontonasal syndrome. Wieland I, et al. Clin Genet, 2007 Dec. PMID 17941886
    3. The role of PRAJA and ELF in TGF-beta signaling and gastric cancer. Mishra L, et al. Cancer Biol Ther, 2005 Jul. PMID 16096365
    4. OTUB2 Promotes Proliferation and Migration of Hepatocellular Carcinoma Cells by PJA1 Deubiquitylation. Hu G, et al. Cell Mol Bioeng, 2022 Jun. PMID 35611163, Free PMC Article
    5. E3 ubiquitin ligase PJA1 regulates lung adenocarcinoma apoptosis and invasion through promoting FOXR2 degradation. Luo Z, et al. Biochem Biophys Res Commun, 2021 Jun 4. PMID 33839405

    See all (50) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Praja1 ubiquitin ligase facilitates degradation of polyglutamine proteins and suppresses polyglutamine-mediated toxicity.
      Title: Praja1 ubiquitin ligase facilitates degradation of polyglutamine proteins and suppresses polyglutamine-mediated toxicity.
    2. Praja1 RING-finger E3 ubiquitin ligase suppresses neuronal cytoplasmic TDP-43 aggregate formation.
      Title: Praja1 RING-finger E3 ubiquitin ligase suppresses neuronal cytoplasmic TDP-43 aggregate formation.
    3. A recurrent PJA1 variant in trigonocephaly and neurodevelopmental disorders.
      Title: A recurrent PJA1 variant in trigonocephaly and neurodevelopmental disorders.
    4. E3 ubiquitin ligase PJA1 regulates lung adenocarcinoma apoptosis and invasion through promoting FOXR2 degradation.
      Title: E3 ubiquitin ligase PJA1 regulates lung adenocarcinoma apoptosis and invasion through promoting FOXR2 degradation.
    5. Targeting the E3 Ubiquitin Ligase PJA1 Enhances Tumor-Suppressing TGFbeta Signaling.
      Title: Targeting the E3 Ubiquitin Ligase PJA1 Enhances Tumor-Suppressing TGFβ Signaling.
    6. Data provide clues into novel aspects of Praja1 function.
      Title: Protein microarrays for the identification of praja1 e3 ubiquitin ligase substrates.
    7. these results suggest a role for PRAJA1 in regulating the level of PRC2 by targeting its free subunits for Ub-mediated proteasomal degradation.
      Title: PRAJA1 is a ubiquitin ligase for the polycomb repressive complex 2 proteins.
    8. A RING finger protein Praja1 regulates Dlx5-dependent transcription through its ubiquitin ligase activity for the Dlx/Msx-interacting MAGE/Necdin family protein, Dlxin-1.
      Title: A RING finger protein Praja1 regulates Dlx5-dependent transcription through its ubiquitin ligase activity for the Dlx/Msx-interacting MAGE/Necdin family protein, Dlxin-1.
    9. Involved in protein ubiquitination in the brain. Candidate gene for X-linked mental retardation.
      Title: PJA1, encoding a RING-H2 finger ubiquitin ligase, is a novel human X chromosome gene abundantly expressed in brain.
    Submit: New GeneRIF Correction

    Phenotypes

    Go to the top of the page Help

    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
    Biological insights from 108 schizophrenia-associated genetic loci.
    EBI GWAS Catalog

    Variation

    Go to the top of the page Help

    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Interactions

    Go to the top of the page Help
    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Go to the top of the page Help

    Markers

    Homology

    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 IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in protein catabolic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in cytoplasm IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

    Go to the top of the page Help
    Preferred Names
    E3 ubiquitin-protein ligase Praja-1
    Names
    RING finger protein 70
    RING-type E3 ubiquitin transferase Praja-1
    praja 1
    praja ring finger 1, E3 ubiquitin protein ligase
    NP_001027568.1
    NP_001369704.1
    NP_001369705.1
    NP_071763.2
    NP_660095.1

    NCBI Reference Sequences (RefSeq)

    Go to the top of the page Help

    NEW Try the new Transcript table

    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_021258.1 RefSeqGene

      Range
      5070..9662
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001032396.4 → NP_001027568.1  E3 ubiquitin-protein ligase Praja-1 isoform b

      See identical proteins and their annotated locations for NP_001027568.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2, also known as PJA1beta) lacks a portion of the 5' UTR and 5' coding region, and uses a downstream start codon, compared to variant 1. The encoded isoform (b) is shorter at the N-terminus, compared to isoform a.
      Source sequence(s)
      AK226171, BM127146, DC349747
      Consensus CDS
      CCDS35316.1
      UniProtKB/TrEMBL
      B4DGK0
      Related
      ENSP00000363699.3, ENST00000374571.5
      Conserved Domains (1) summary
      cd16465
      Location:539 → 584
      RING-H2_PJA1_2; RING finger, H2 subclass, found in protein E3 ubiquitin-protein ligase Praja-1, Praja-2, and similar proteins

    2. NM_001382775.1 → NP_001369704.1  E3 ubiquitin-protein ligase Praja-1 isoform a

      Status: REVIEWED

      Source sequence(s)
      AL157699
      Consensus CDS
      CCDS14393.1
      UniProtKB/Swiss-Prot
      A2A322, Q5JUT8, Q5JUT9, Q8NG27, Q8NG28, Q9HAC1
      UniProtKB/TrEMBL
      A8K3C8, B3KU76
      Conserved Domains (1) summary
      cd16465
      Location:594 → 639
      RING-H2_PJA1_2; RING finger, H2 subclass, found in protein E3 ubiquitin-protein ligase Praja-1, Praja-2, and similar proteins

    3. NM_001382776.1 → NP_001369705.1  E3 ubiquitin-protein ligase Praja-1 isoform b

      Status: REVIEWED

      Source sequence(s)
      AL157699
      Consensus CDS
      CCDS35316.1
      UniProtKB/TrEMBL
      B4DGK0
      Conserved Domains (1) summary
      cd16465
      Location:539 → 584
      RING-H2_PJA1_2; RING finger, H2 subclass, found in protein E3 ubiquitin-protein ligase Praja-1, Praja-2, and similar proteins

    4. NM_022368.5 → NP_071763.2  E3 ubiquitin-protein ligase Praja-1 isoform c

      See identical proteins and their annotated locations for NP_071763.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) lacks an in-frame segment of the 5' coding region, compared to variant 1, resulting in an isoform (c) that is shorter than isoform a.
      Source sequence(s)
      AF264620, AL157699, BM127146, DC349747
      Consensus CDS
      CCDS14392.1
      UniProtKB/Swiss-Prot
      Q8NG27
      Related
      ENSP00000363712.3, ENST00000374584.3
      Conserved Domains (2) summary
      pfam13639
      Location:407 → 448
      zf-RING_2; Ring finger domain
      cl17018
      Location:374 → 407
      FANC; Fanconi anemia ID complex proteins FANCI and FANCD2

    5. NM_145119.4 → NP_660095.1  E3 ubiquitin-protein ligase Praja-1 isoform a

      See identical proteins and their annotated locations for NP_660095.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (a).
      Source sequence(s)
      BC075803, BM127146, DC349747
      Consensus CDS
      CCDS14393.1
      UniProtKB/Swiss-Prot
      A2A322, Q5JUT8, Q5JUT9, Q8NG27, Q8NG28, Q9HAC1
      UniProtKB/TrEMBL
      A8K3C8, B3KU76
      Related
      ENSP00000355014.1, ENST00000361478.1
      Conserved Domains (1) summary
      cd16465
      Location:594 → 639
      RING-H2_PJA1_2; RING finger, H2 subclass, found in protein E3 ubiquitin-protein ligase Praja-1, Praja-2, and similar proteins

    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_000023.11 Reference GRCh38.p14 Primary Assembly

      Range
      69160746..69165453 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060947.1 Alternate T2T-CHM13v2.0

      Range
      67594126..67598833 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8NG27.2 GenPept UniProtKB/Swiss-Prot:Q8NG27

    Gene LinkOut

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

    Chemical Information
    Molecular Biology Databases
    Research Materials
    Tools
    Miscellaneous