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

    Gene ID: 64219, updated on 9-Dec-2024

    Summary

    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See PJA1 in Genome Data Viewer
    Location:
    Xq13.1
    Exon count:
    3
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (69160746..69165453, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (67594126..67598833, complement)
    RS_2024_09 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

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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 IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    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
     
    involved_in protein ubiquitination IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    Component Evidence Code Pubs
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in cytoplasm IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    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)

    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_001032396.4NP_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:539584
      RING-H2_PJA1_2; RING finger, H2 subclass, found in protein E3 ubiquitin-protein ligase Praja-1, Praja-2, and similar proteins
    2. NM_001382775.1NP_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:594639
      RING-H2_PJA1_2; RING finger, H2 subclass, found in protein E3 ubiquitin-protein ligase Praja-1, Praja-2, and similar proteins
    3. NM_001382776.1NP_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:539584
      RING-H2_PJA1_2; RING finger, H2 subclass, found in protein E3 ubiquitin-protein ligase Praja-1, Praja-2, and similar proteins
    4. NM_022368.5NP_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:407448
      zf-RING_2; Ring finger domain
      cl17018
      Location:374407
      FANC; Fanconi anemia ID complex proteins FANCI and FANCD2
    5. NM_145119.4NP_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:594639
      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_2024_08

    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)