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

    Gene ID: 64219, updated on 19-Jan-2017
    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; 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]
    Orthologs
    Location:
    Xq13.1
    Exon count:
    2
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) X NC_000023.11 (69160738..69165522, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (68380581..68385365, complement)

    Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC102723911 Neighboring gene uncharacterized LOC105373242 Neighboring gene uncharacterized LOC107985646 Neighboring gene high mobility group nucleosome binding domain 1 pseudogene 35 Neighboring gene long intergenic non-protein coding RNA 269

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    • 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...
    • TGF-beta Signaling Pathway, organism-specific biosystem (from WikiPathways)
      TGF-beta Signaling Pathway, organism-specific biosystemThe signal transduction mechanisms underlying the pathophysiological activities of transforming growth factor-? (TGF-?) have been extensively studied since its discovery nearly 30 years ago. TGF-? li...
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    ubiquitin protein ligase activity IBA
    Inferred from Biological aspect of Ancestor
    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
     
    protein ubiquitination IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    Preferred Names
    E3 ubiquitin-protein ligase Praja-1
    Names
    RING finger protein 70
    praja 1
    praja ring finger 1, E3 ubiquitin protein ligase

    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

      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/Swiss-Prot
      Q8NG27
      Related
      ENSP00000363699, OTTHUMP00000158771, ENST00000374571, OTTHUMT00000250472
      Conserved Domains (1) summary
      pfam13639
      Location:540581
      zf-RING_2; Ring finger domain
    2. NM_022368.4NP_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, OTTHUMP00000023458, ENST00000374584, OTTHUMT00000057032
      Conserved Domains (2) summary
      pfam13639
      Location:407448
      zf-RING_2; Ring finger domain
      cl17018
      Location:374407
      FANC; Fanconi anemia ID complex proteins FANCI and FANCD2
    3. NM_145119.3NP_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
      Q8NG27
      Related
      ENSP00000355014, OTTHUMP00000023457, ENST00000361478, OTTHUMT00000057031
      Conserved Domains (1) summary
      pfam13639
      Location:595636
      zf-RING_2; Ring finger domain

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000023.11 Reference GRCh38.p7 Primary Assembly

      Range
      69160738..69165522 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005262292.1XP_005262349.1  

      See identical proteins and their annotated locations for XP_005262349.1

      UniProtKB/Swiss-Prot
      Q8NG27
      Conserved Domains (1) summary
      pfam13639
      Location:540581
      zf-RING_2; Ring finger domain
    2. XM_011531011.2XP_011529313.1  

      See identical proteins and their annotated locations for XP_011529313.1

      UniProtKB/Swiss-Prot
      Q8NG27
      Conserved Domains (1) summary
      pfam13639
      Location:595636
      zf-RING_2; Ring finger domain

    Alternate CHM1_1.1

    Genomic

    1. NC_018934.2 Alternate CHM1_1.1

      Range
      68273990..68278774 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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