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

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

Summary

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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
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Genomic context

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See PJA1 in Genome Data Viewer
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

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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. 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

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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
Biological insights from 108 schizophrenia-associated genetic loci.
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

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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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

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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)

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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

  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

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