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    PJA1 praja ring finger 1, E3 ubiquitin protein ligase [ Homo sapiens ]

    Gene ID: 64219, updated on 11-May-2012

    Summary

    Official Symbol
    PJA1provided by HGNC
    Official Full Name
    praja ring finger 1, E3 ubiquitin protein ligaseprovided by HGNC
    Primary source
    HGNC:16648
    Locus tag
    RP13-55H22.1
    See related
    Ensembl:ENSG00000181191; HPRD:02335; MIM:300420; Vega:OTTHUMG00000021753
    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 mental retardation 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]

    Genomic context

    Location :
    Xq13.1
    Sequence :
    Chromosome: X; NC_000023.10 (68380581..68385365, complement)
    See PJA1 in Epigenomics, MapViewer

    Chromosome X - NC_000023.10Genomic Context describing neighboring genes Neighboring gene SERPINE1 mRNA binding protein 1 pseudogene 1 Neighboring gene ephrin-B1 Neighboring gene cytochrome c, somatic pseudogene 43 Neighboring gene family with sequence similarity 155, member B

    Genomic regions, transcripts, and products

    Bibliography

    Related articles in PubMed

    GeneRIFs: Gene References Into Functions What's a GeneRIF?

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description
    Q8NG27 Q9H1I8 ASCC2    HPRD  PubMed  
    Q8NG27 P36542 ATP5C1    HPRD  PubMed  
    Q8NG27 P00390 GSR    HPRD  PubMed  
    Q8NG27 P14866 HNRNPL    HPRD  PubMed  
    Q8NG27 Q14807 KIF22    HPRD  PubMed  
    Q8NG27 Q9Y5V3 MAGED1    HPRD  PubMed  
    Q8NG27 Q00987 MDM2    HPRD  PubMed  
    Q8NG27 Q99608 NDN    HPRD  PubMed  
    Q8NG27 Q9H4K1 RIBC2    HPRD  PubMed  
    Q8NG27 P62837 UBE2D2    HPRD  PubMed  
    Q8NG27 Q8IYI8 ZNF440    HPRD  PubMed  
    BioGRID:122109 BioGRID:123921 ASCC2    BioGRID  PubMed Two-hybrid 
    BioGRID:122109 BioGRID:106997 ATP5C1    BioGRID  PubMed Two-hybrid 
    BioGRID:122109 BioGRID:114265 EED    BioGRID  PubMed Biochemical Activity 
    BioGRID:122109 BioGRID:108446 EZH2    BioGRID  PubMed Biochemical Activity 
    BioGRID:122109 BioGRID:109191 GSR    BioGRID  PubMed Two-hybrid 
    BioGRID:122109 BioGRID:109863 IRAK1    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:122109 BioGRID:110033 KIF22    BioGRID  PubMed Two-hybrid 
    BioGRID:122109 BioGRID:114879 MAGED1    BioGRID  PubMed Affinity Capture-Western; Biochemical Activity; Reconstituted Complex; Two-hybrid 
    BioGRID:122109 BioGRID:121094 NDNL2    BioGRID  PubMed Affinity Capture-MS; Reconstituted Complex 
    BioGRID:122109 BioGRID:122109 PJA1    BioGRID  PubMed Biochemical Activity 
    BioGRID:122109 BioGRID:117581 RIBC2    BioGRID  PubMed Two-hybrid 
    BioGRID:122109 BioGRID:112589 SPTBN1    BioGRID  PubMed Affinity Capture-Western; Reconstituted Complex 
    BioGRID:122109 BioGRID:117059 SUZ12    BioGRID  PubMed Biochemical Activity 
    BioGRID:122109 BioGRID:113164 UBC    BioGRID  PubMed Affinity Capture-MS; Affinity Capture-Western; Reconstituted Complex 
    BioGRID:122109 BioGRID:113170 UBE2D2    BioGRID  PubMed Affinity Capture-Western; Reconstituted Complex 
    BioGRID:122109 BioGRID:127156 UBE2U    BioGRID  PubMed Two-hybrid 

    General gene information

    Markers

    Pathways from BioSystems

    • Adaptive Immune System, organism-specific biosystem (from REACTOME)
      Adaptive Immune System, organism-specific biosystemAdaptive immunity refers to antigen-specific immune response efficiently involved in clearing the pathogens. The adaptive immune system is comprised of B and T lymphocytes that express receptors with...
    • Antigen processing: Ubiquitination & Proteasome degradation, organism-specific biosystem (from REACTOME)
      Antigen processing: Ubiquitination & Proteasome degradation, organism-specific biosystemIntracellular foreign or aberrant host proteins are cleaved into peptide fragments of a precise size, such that they can be loaded on to class I MHC molecules and presented externally to cytotoxic T ...
    • Class I MHC mediated antigen processing & presentation, organism-specific biosystem (from REACTOME)
      Class I MHC mediated antigen processing & presentation, organism-specific biosystemMajor histocompatibility complex (MHC) class I molecules play an important role in cell mediated immunity by reporting on intracellular events such as viral infection, the presence of intracellular b...
    • Immune System, organism-specific biosystem (from REACTOME)
      Immune System, organism-specific biosystemHumans are exposed to millions of potential pathogens daily, through contact, ingestion, and inhalation. Our ability to avoid infection depends on the adaptive immune system and during the first crit...

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    ligase activity IEA
    Inferred from Electronic Annotation
    more info
     
    metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    ubiquitin-protein ligase activity IEA
    Inferred from Electronic Annotation
    more info
     
    zinc ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    protein catabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    cytoplasm IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    E3 ubiquitin-protein ligase Praja-1
    Names
    E3 ubiquitin-protein ligase Praja-1
    praja 1
    RING finger protein 70

    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_021258.1 RefSeqGene

      Range
      5001..9785
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001032396.2NP_001027568.1  E3 ubiquitin-protein ligase Praja-1 isoform b

      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
      A2A322
      Related
      ENSP00000363699, OTTHUMP00000158771, ENST00000374571, OTTHUMT00000250472
      Conserved Domains (2) summary
      cd00162
      Location:539581
      Blast Score: 131
      RING; RING-finger (Really Interesting New Gene) domain, a specialized type of Zn-finger of 40 to 60 residues that binds two atoms of zinc; defined by the 'cross-brace' motif C-X2-C-X(9-39)-C-X(1-3)- H-X(2-3)-(N/C/H)-X2-C-X(4-48)C-X2-C; probably involved in ...
      pfam13923
      Location:536581
      Blast Score: 135
      zf-C3HC4_2; Zinc finger, C3HC4 type (RING finger)
    2. NM_022368.4NP_071763.2  E3 ubiquitin-protein ligase Praja-1 isoform c

      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, OTTHUMP00000023458, ENST00000374584, OTTHUMT00000057032
      Conserved Domains (2) summary
      cd00162
      Location:406448
      Blast Score: 130
      RING; RING-finger (Really Interesting New Gene) domain, a specialized type of Zn-finger of 40 to 60 residues that binds two atoms of zinc; defined by the 'cross-brace' motif C-X2-C-X(9-39)-C-X(1-3)- H-X(2-3)-(N/C/H)-X2-C-X(4-48)C-X2-C; probably involved in ...
      pfam13923
      Location:403448
      Blast Score: 135
      zf-C3HC4_2; Zinc finger, C3HC4 type (RING finger)
    3. NM_145119.3NP_660095.1  E3 ubiquitin-protein ligase Praja-1 isoform a

      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
      Q8NG27
      Related
      ENSP00000355014, OTTHUMP00000023457, ENST00000361478, OTTHUMT00000057031
      Conserved Domains (2) summary
      cd00162
      Location:594636
      Blast Score: 133
      RING; RING-finger (Really Interesting New Gene) domain, a specialized type of Zn-finger of 40 to 60 residues that binds two atoms of zinc; defined by the 'cross-brace' motif C-X2-C-X(9-39)-C-X(1-3)- H-X(2-3)-(N/C/H)-X2-C-X(4-48)C-X2-C; probably involved in ...
      pfam13923
      Location:591636
      Blast Score: 137
      zf-C3HC4_2; Zinc finger, C3HC4 type (RING finger)

    RefSeqs of Annotated Genomes: Build 37.3

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

    Reference GRCh37.p5 Primary Assembly

    Genomic

    1. NC_000023.10 Reference GRCh37.p5 Primary Assembly

      Range
      68380581..68385365, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate HuRef

    Genomic

    1. AC_000155.1 Alternate HuRef

      Range
      62204531..62209313, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

      Supplemental Content

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