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Aliases for PJA1 Gene

Aliases for PJA1 Gene

  • Praja Ring Finger Ubiquitin Ligase 1 2 3 5
  • Praja Ring Finger 1, E3 Ubiquitin Protein Ligase 2 3
  • RING-Type E3 Ubiquitin Transferase Praja-1 3 4
  • RING Finger Protein 70 3 4
  • Praja 1 2 3
  • PRAJA1 3 4
  • RNF70 3 4
  • E3 Ubiquitin-Protein Ligase Praja-1 3
  • Praja Ring Finger 1 2
  • EC 2.3.2.27 4
  • EC 6.3.2 61

External Ids for PJA1 Gene

Previous GeneCards Identifiers for PJA1 Gene

  • GC0XM064558
  • GC0XM065858
  • GC0XM066613
  • GC0XM067247
  • GC0XM068163
  • GC0XM068297
  • GC0XM062204

Summaries for PJA1 Gene

Entrez Gene Summary for PJA1 Gene

  • 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]

GeneCards Summary for PJA1 Gene

PJA1 (Praja Ring Finger Ubiquitin Ligase 1) is a Protein Coding gene. Among its related pathways are Innate Immune System and Class I MHC mediated antigen processing and presentation. GO annotations related to this gene include ligase activity and ubiquitin-protein transferase activity. An important paralog of this gene is PJA2.

UniProtKB/Swiss-Prot for PJA1 Gene

  • Has E2-dependent E3 ubiquitin-protein ligase activity. Ubiquitinates MAGED1 antigen leading to its subsequent degradation by proteasome (By similarity). May be involved in protein sorting.

Gene Wiki entry for PJA1 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PJA1 Gene

Genomics for PJA1 Gene

Regulatory Elements for PJA1 Gene

Enhancers for PJA1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH0XG069225 0.7 ENCODE 17.3 -56.5 -56510 0.2 ZNF263 CTCF MAZ ZNF654 KLF17 REST RAD21 ZFP69B ZNF121 HIC1 PJA1 PIR50037 GC0XM069229
GH0XG069195 0.7 ENCODE 16.9 -29.6 -29640 0.2 TFAP4 SAP130 SP5 CEBPG TEAD3 TBX3 NCOR1 PBX2 TCF7 NR2F6 PJA1 PIR50037 LINC00269
GH0XG069136 0.8 Ensembl ENCODE 13 +28.2 28237 2.9 GLIS1 ZNF10 ZBTB33 RBBP5 EGR2 PJA1 LOC105373242
GH0XG069115 0.6 ENCODE 12.7 +49.5 49515 1.0 ESRRA ZSCAN4 ZNF148 ZFHX2 ZNF544 ZBTB33 FOS FOSL2 PJA1 LOC105373242
GH0XG069133 0.6 ENCODE 12.4 +31.7 31691 0.3 BCOR ZNF263 CTCF GFI1B TEAD4 RAD21 SMC3 KDM1A TRIM28 PJA1 LOC105373242
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around PJA1 on UCSC Golden Path with GeneCards custom track

Promoters for PJA1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000247037 593 2000 PKNOX1 ZSCAN4 ARID4B SIN3A KLF17 RAD21 EGR1 IKZF2 EGR2 ZNF263

Genomic Location for PJA1 Gene

Chromosome:
X
Start:
69,160,738 bp from pter
End:
69,165,793 bp from pter
Size:
5,056 bases
Orientation:
Minus strand

Genomic View for PJA1 Gene

Genes around PJA1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PJA1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PJA1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PJA1 Gene

Proteins for PJA1 Gene

  • Protein details for PJA1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8NG27-PJA1_HUMAN
    Recommended name:
    E3 ubiquitin-protein ligase Praja-1
    Protein Accession:
    Q8NG27
    Secondary Accessions:
    • A2A322
    • Q5JUT8
    • Q5JUT9
    • Q8NG28
    • Q9HAC1

    Protein attributes for PJA1 Gene

    Size:
    643 amino acids
    Molecular mass:
    71002 Da
    Quaternary structure:
    • Binds ubiquitin-conjugating enzymes (E2s). In vitro, interacts with the ubiquitin-conjugating enzyme, UBE2D2.
    SequenceCaution:
    • Sequence=BAB13928.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for PJA1 Gene

    Alternative splice isoforms for PJA1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PJA1 Gene

Selected DME Specific Peptides for PJA1 Gene

Q8NG27:
  • VDWSLFDGFADGLGVAEAISYVDPQFLTYMALEERLAQA
  • FHKPCVSIWLQKSGTCPVCR
  • TGRRYGRRHAYVSF
  • ATELPCHH
  • FMLDGNNNLEDDSSVSEDL

Post-translational modifications for PJA1 Gene

Domains & Families for PJA1 Gene

Gene Families for PJA1 Gene

Protein Domains for PJA1 Gene

Suggested Antigen Peptide Sequences for PJA1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q8NG27

UniProtKB/Swiss-Prot:

PJA1_HUMAN :
  • The RING-type zinc finger domain interacts with an ubiquitin-conjugating enzyme (E2) and facilitates ubiquitination.
Domain:
  • The RING-type zinc finger domain interacts with an ubiquitin-conjugating enzyme (E2) and facilitates ubiquitination.
genes like me logo Genes that share domains with PJA1: view

Function for PJA1 Gene

Molecular function for PJA1 Gene

UniProtKB/Swiss-Prot CatalyticActivity:
S-ubiquitinyl-[E2 ubiquitin-conjugating enzyme]-L-cysteine + [acceptor protein]-L-lysine = [E2 ubiquitin-conjugating enzyme]-L-cysteine + N(6)-ubiquitinyl-[acceptor protein]-L-lysine.
UniProtKB/Swiss-Prot Function:
Has E2-dependent E3 ubiquitin-protein ligase activity. Ubiquitinates MAGED1 antigen leading to its subsequent degradation by proteasome (By similarity). May be involved in protein sorting.

Enzyme Numbers (IUBMB) for PJA1 Gene

Gene Ontology (GO) - Molecular Function for PJA1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 20864041
GO:0008270 zinc ion binding IEA --
GO:0016740 transferase activity IEA --
GO:0046872 metal ion binding IEA --
GO:0061630 ubiquitin protein ligase activity IEA,IBA --
genes like me logo Genes that share ontologies with PJA1: view
genes like me logo Genes that share phenotypes with PJA1: view

Animal Model Products

CRISPR Products

miRNA for PJA1 Gene

miRTarBase miRNAs that target PJA1

Inhibitory RNA Products

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for PJA1 Gene

Localization for PJA1 Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for PJA1 gene
Compartment Confidence
nucleus 4
cytosol 2

Gene Ontology (GO) - Cellular Components for PJA1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IBA --
genes like me logo Genes that share ontologies with PJA1: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for PJA1 Gene

Pathways & Interactions for PJA1 Gene

genes like me logo Genes that share pathways with PJA1: view

SIGNOR curated interactions for PJA1 Gene

Inactivates:

Gene Ontology (GO) - Biological Process for PJA1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016567 protein ubiquitination IEA --
GO:0030163 protein catabolic process IEA --
genes like me logo Genes that share ontologies with PJA1: view

Drugs & Compounds for PJA1 Gene

(3) Drugs for PJA1 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Phosphoric acid Approved Pharma 0
Adenosine monophosphate Approved Nutra 0
Adenosine triphosphate Approved Nutra 0

(1) Additional Compounds for PJA1 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
pyrophosphate
  • (4-)Diphosphoric acid ion
  • (P2O74-)Diphosphate
  • Diphosphate
  • Diphosphoric acid
  • PPi
14000-31-8
genes like me logo Genes that share compounds with PJA1: view

Transcripts for PJA1 Gene

Unigene Clusters for PJA1 Gene

Praja ring finger 1, E3 ubiquitin protein ligase:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for PJA1 Gene

ExUns: 1a · 1b · 1c ^ 2a · 2b · 2c · 2d ^ 3a · 3b · 3c
SP1: - - -
SP2: - -
SP3:
SP4: -
SP5: -

Relevant External Links for PJA1 Gene

GeneLoc Exon Structure for
PJA1
ECgene alternative splicing isoforms for
PJA1

Expression for PJA1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for PJA1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for PJA1 Gene

This gene is overexpressed in Bone (47.9) and Testis (8.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for PJA1 Gene



Protein tissue co-expression partners for PJA1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of PJA1 Gene:

PJA1

SOURCE GeneReport for Unigene cluster for PJA1 Gene:

Hs.522679

mRNA Expression by UniProt/SwissProt for PJA1 Gene:

Q8NG27-PJA1_HUMAN
Tissue specificity: Expressed in various regions of the brain including the cerebellum, cerebral cortex, medulla, occipital pole, frontal lobe, temporal lobe and putamen. Highest levels in the cerebral cortex.

Evidence on tissue expression from TISSUES for PJA1 Gene

  • Nervous system(4.9)
  • Kidney(4.2)
genes like me logo Genes that share expression patterns with PJA1: view

Primer Products

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for PJA1 Gene

Orthologs for PJA1 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for PJA1 Gene

Organism Taxonomy Gene Similarity Type Details
dog
(Canis familiaris)
Mammalia PJA1 34 35
  • 87.75 (n)
rat
(Rattus norvegicus)
Mammalia LOC683077 34
  • 82.34 (n)
mouse
(Mus musculus)
Mammalia Pja1 34 16 35
  • 81.9 (n)
oppossum
(Monodelphis domestica)
Mammalia -- 35
  • 44 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 28 (a)
OneToMany
chicken
(Gallus gallus)
Aves -- 35
  • 38 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 35
  • 39 (a)
OneToMany
zebrafish
(Danio rerio)
Actinopterygii pja2 35
  • 32 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes -- 37
Species where no ortholog for PJA1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chimpanzee (Pan troglodytes)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • cow (Bos Taurus)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for PJA1 Gene

ENSEMBL:
Gene Tree for PJA1 (if available)
TreeFam:
Gene Tree for PJA1 (if available)

Paralogs for PJA1 Gene

Paralogs for PJA1 Gene

(2) SIMAP similar genes for PJA1 Gene using alignment to 4 proteins:

genes like me logo Genes that share paralogs with PJA1: view

Variants for PJA1 Gene

Sequence variations from dbSNP and Humsavar for PJA1 Gene

SNP ID Clin Chr 0X pos Sequence Context AA Info Type
rs1001541505 -- 69,162,046(+) CTTTC(C/T)CCGGC reference, missense
rs1001855452 -- 69,167,006(+) TGCAA(A/G)CAACT upstream-variant-2KB
rs1002169974 -- 69,166,742(+) GAGCC(C/T)AGGAG upstream-variant-2KB
rs1002723963 -- 69,165,265(+) AGGAA(C/G/T)CCCCC intron-variant
rs1002860071 -- 69,165,507(+) GCGGC(A/G)GCGGA upstream-variant-2KB, utr-variant-5-prime

Structural Variations from Database of Genomic Variants (DGV) for PJA1 Gene

Variant ID Type Subtype PubMed ID
esv1584074 OTHER inversion 17803354
nsv829374 CNV gain 20364138

Variation tolerance for PJA1 Gene

Residual Variation Intolerance Score: 65.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.30; 62.86% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for PJA1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
PJA1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PJA1 Gene

Disorders for PJA1 Gene

Relevant External Links for PJA1

Genetic Association Database (GAD)
PJA1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
PJA1

No disorders were found for PJA1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for PJA1 Gene

Publications for PJA1 Gene

  1. PJA1, encoding a RING-H2 finger ubiquitin ligase, is a novel human X chromosome gene abundantly expressed in brain. (PMID: 12036302) Yu P. … Cai T. (Genomics 2002) 2 3 4 64
  2. Contiguous gene deletions involving EFNB1, OPHN1, PJA1 and EDA in patients with craniofrontonasal syndrome. (PMID: 17941886) Wieland I. … Wieacker P. (Clin. Genet. 2007) 3 22 64
  3. The DNA sequence of the human X chromosome. (PMID: 15772651) Ross M.T. … Bentley D.R. (Nature 2005) 3 4 64
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64

Products for PJA1 Gene

Sources for PJA1 Gene

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