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

Gene ID: 64219, updated on 7-Jun-2020

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
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

Genomic context

See PJA1 in Genome Data Viewer
Location:
Xq13.1
Exon count:
3
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) X NC_000023.11 (69160746..69165453, 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

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

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
protein catabolic process 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)

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..9777
    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/Swiss-Prot
    Q8NG27
    Related
    ENSP00000363699.3, ENST00000374571.4
    Conserved Domains (1) summary
    pfam13639
    Location:540581
    zf-RING_2; Ring finger domain
  2. NM_001382775.1NP_001369704.1  E3 ubiquitin-protein ligase Praja-1 isoform a

    Status: REVIEWED

    Source sequence(s)
    AL157699
  3. NM_001382776.1NP_001369705.1  E3 ubiquitin-protein ligase Praja-1 isoform b

    Status: REVIEWED

    Source sequence(s)
    AL157699
  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
    Q8NG27
    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: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000023.11 Reference GRCh38.p13 Primary Assembly

    Range
    69160746..69165453 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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