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

Gene ID: 64219, updated on 2-Nov-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
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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 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 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

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_001032396.4NP_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)