• Gene id: 64219

Gene Summary

• Gene Symbol: PJA1   Gene   UCSC   Ensembl
• Aliases: PRAJA1, RNF70
• Gene name: praja ring finger ubiquitin ligase 1
• Alternate names: E3 ubiquitin-protein ligase Praja-1, RING finger protein 70, RING-type E3 ubiquitin transferase Praja-1, praja 1, praja ring finger 1, E3 ubiquitin protein ligase,
• Gene location: Xq13.1 (69165515: 69160745)     Exons: 2     NC_000023.11
• Gene summary(Entrez): 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
• OMIM: 300420

Protein Summary

• Protein general information: Q8NG27  
  • Name: E3 ubiquitin protein ligase Praja 1 (Praja1) (EC 2.3.2.27) (RING finger protein 70) (RING type E3 ubiquitin transferase Praja 1)
  • Length: 643  
  • Mass: 71002
  • 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. {ECO
• Sequence:

  MGQESSKPVWPNPTGGYQSNTGRRYGRRHAYVSFRPPTSQRERIASQRKTNSEVPMHRSAPSQTTKRSRSPFSTT
  RRSWDDSESSGTNLNIDNEDYSRYPPREYRASGSRRGMAYGHIDSYGADDSEEEGAGPVERPPVRGKTGKFKDDK
  LYDPEKGARSLAGPPPHFSSFSRDVREERDKLDPVPAARCSASRADFLPQSSVASQSSSEGKLATKGDSSERERR
  EQNLPARPSRAPVSICGGGENTSKSAEEPVVRPKIRNLASPNCVKPKIFFDTDDDDDMPHSTSRWRDTANDNEGH
  SDGLARRGRGESSSGYPEPKYPEDKREARSDQVKPEKVPRRRRTMADPDFWTHSDDYYKYCDEDSDSDKEWIAAL
  RRKYRSREQTLSSSGESWETLPGKEEREPPQAKVSASTGTSPGPGASASAGAGAGASAGSNGSNYLEEVREPSLQ
  EEQASLEEGEIPWLQYHENDSSSEGDNDSGHELMQPGVFMLDGNNNLEDDSSVSEDLEVDWSLFDGFADGLGVAE
  AISYVDPQFLTYMALEERLAQAMETALAHLESLAVDVEVANPPASKESIDALPEILVTEDHGAVGQEMCCPICCS
  EYVKGEVATELPCHHYFHKPCVSIWLQKSGTCPVCRCMFPPPL

• Structural information:
  • Interpro: IPR031227  IPR001841  IPR013083  
  • Prosite: PS50089
  • PDB: 2L0B
  • PDBsum: 2L0B
  • STRING: ENSP00000355014
• Other Databases: GeneCards:  PJA1  Malacards:  PJA1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005737	cytoplasm	IBA	cellular component
GO:0016567	protein ubiquitination	IBA	biological process
GO:0061630	ubiquitin protein ligase activity	IBA	molecular function
GO:0061630	ubiquitin protein ligase activity	IEA	molecular function
GO:0016567	protein ubiquitination	IEA	biological process
GO:0016740	transferase activity	IEA	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0061630	ubiquitin protein ligase activity	IEA	molecular function
GO:0030163	protein catabolic process	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component

Diseases

Associated diseases	References
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)