PJA1 (praja ring finger ubiquitin ligase 1)

Gene

• Entrez ID: 64219
• Gene name: Praja ring finger ubiquitin ligase 1
• Gene symbol: PJA1
• Synonyms (NCBI Gene): PRAJA1, RNF70
• Chromosome: X
• Chromosome location: Xq13.1
• 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

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT1237086	hsa-miR-155	CLIP-seq
MIRT1237087	hsa-miR-190	CLIP-seq
MIRT1237088	hsa-miR-190b	CLIP-seq
MIRT1237089	hsa-miR-1976	CLIP-seq
MIRT1237090	hsa-miR-2053	CLIP-seq
MIRT1237091	hsa-miR-335	CLIP-seq
MIRT1237092	hsa-miR-3682-3p	CLIP-seq
MIRT1237093	hsa-miR-4721	CLIP-seq
MIRT1237094	hsa-miR-4775	CLIP-seq
MIRT1237095	hsa-miR-498	CLIP-seq
MIRT1237096	hsa-miR-509-3p	CLIP-seq
MIRT1237097	hsa-miR-569	CLIP-seq
MIRT1237098	hsa-miR-587	CLIP-seq
MIRT1237099	hsa-miR-194	CLIP-seq
MIRT1237089	hsa-miR-1976	CLIP-seq
MIRT1237090	hsa-miR-2053	CLIP-seq
MIRT1237100	hsa-miR-3120-3p	CLIP-seq
MIRT1237101	hsa-miR-3136-5p	CLIP-seq
MIRT1237102	hsa-miR-323-3p	CLIP-seq
MIRT1237091	hsa-miR-335	CLIP-seq
MIRT1237103	hsa-miR-4439	CLIP-seq
MIRT1237104	hsa-miR-4513	CLIP-seq
MIRT1237093	hsa-miR-4721	CLIP-seq
MIRT1237105	hsa-miR-4752	CLIP-seq
MIRT1237094	hsa-miR-4775	CLIP-seq
MIRT1237106	hsa-miR-489	CLIP-seq
MIRT1237095	hsa-miR-498	CLIP-seq
MIRT1237096	hsa-miR-509-3p	CLIP-seq
MIRT1237097	hsa-miR-569	CLIP-seq
MIRT1237107	hsa-miR-577	CLIP-seq
MIRT1237098	hsa-miR-587	CLIP-seq
MIRT1237108	hsa-miR-802	CLIP-seq
MIRT2069723	hsa-miR-4731-3p	CLIP-seq
MIRT2069724	hsa-miR-4801	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	20864041, 28514442, 32296183, 33961781
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IEA
GO:0008270	Function	Zinc ion binding	IEA
GO:0016567	Process	Protein ubiquitination	IBA
GO:0016740	Function	Transferase activity	IEA
GO:0030163	Process	Protein catabolic process	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0061630	Function	Ubiquitin protein ligase activity	IBA
GO:0061630	Function	Ubiquitin protein ligase activity	IEA

Other IDs

• MIM: 300420
• HGNC: 16648
• e!Ensembl: ENSG00000181191

Protein

• UniProt ID: Q8NG27
• Protein name: E3 ubiquitin-protein ligase Praja-1 (Praja1) (EC 2.3.2.27) (RING finger protein 70) (RING-type E3 ubiquitin transferase Praja-1)
• Protein 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.
• PDB: 2L0B
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF13639	zf-RING_2	593 → 636	Ring finger domain	Domain

• Tissue specificity: 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:0000269|PubMed:12036302}.
• Sequence:

  MGQESSKPVWPNPTGGYQSNTGRRYGRRHAYVSFRPPTSQRERIASQRKTNSEVPMHRSA
  PSQTTKRSRSPFSTTRRSWDDSESSGTNLNIDNEDYSRYPPREYRASGSRRGMAYGHIDS
  YGADDSEEEGAGPVERPPVRGKTGKFKDDKLYDPEKGARSLAGPPPHFSSFSRDVREERD
  KLDPVPAARCSASRADFLPQSSVASQSSSEGKLATKGDSSERERREQNLPARPSRAPVSI
  CGGGENTSKSAEEPVVRPKIRNLASPNCVKPKIFFDTDDDDDMPHSTSRWRDTANDNEGH
  SDGLARRGRGESSSGYPEPKYPEDKREARSDQVKPEKVPRRRRTMADPDFWTHSDDYYKY
  CDEDSDSDKEWIAALRRKYRSREQTLSSSGESWETLPGKEEREPPQAKVSASTGTSPGPG
  ASASAGAGAGASAGSNGSNYLEEVREPSLQEEQASLEEGEIPWLQYHENDSSSEGDNDSG
  HELMQPGVFMLDGNNNLEDDSSVSEDLEVDWSLFDGFADGLGVAEAISYVDPQFLTYMAL
  EERLAQAMETALAHLESLAVDVEVANPPASKESIDALPEILVTEDHGAVGQEMCCPICCS
  EYVKGEVATELPCHHYFHKPCVSIWLQKSGTCPVCRCMFPPPL

• Sequence length: 643

Pathways

Reactome:

Antigen processing: Ubiquitination & Proteasome degradation

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ATTENTION DEFICIT HYPERACTIVITY DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BIPOLAR DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CRANIOFRONTONASAL DYSPLASIA	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PARKINSON DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PJA1-related disorder	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PSYCHIATRIC DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Cleft Lip	Cleft lip	Pubtator	28877219	Associate	★☆☆☆☆ Found in Text Mining only
Congenital diaphragmatic hernia	Congenital diaphragmatic hernia	BEFREE	21782985		★☆☆☆☆ Found in Text Mining only
Craniofrontonasal dysplasia	Craniofrontonasal Dysplasia	GENOMICS_ENGLAND_DG	11533224		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glioblastoma	Glioblastoma	BEFREE	30737375		★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	30737375		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	GENOMICS_ENGLAND_DG	11533224		★☆☆☆☆ Found in Text Mining only
Mental Retardation, X-Linked	Mental retardation	LHGDN	12036302		★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy Duchenne	Duchenne muscular dystrophy	Pubtator	28877219	Associate	★☆☆☆☆ Found in Text Mining only