Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
64219
Gene name Gene Name - the full gene name approved by the HGNC.
Praja ring finger ubiquitin ligase 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
PJA1
Synonyms (NCBI Gene) Gene synonyms aliases
PRAJA1, RNF70
Chromosome Chromosome number
X
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
Xq13.1
Summary Summary of gene provided in NCBI Entrez 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
miRNA miRNA information provided by mirtarbase database.
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
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 20864041, 28514442, 32296183
GO:0005737 Component Cytoplasm IEA
GO:0016567 Process Protein ubiquitination IEA
GO:0030163 Process Protein catabolic process IEA
GO:0046872 Function Metal ion binding IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
300420 16648 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
EYVKGEVATELPCHHYFHKPCVSIWLQKSGTCPVCR
CMFPPPL
Sequence length 643
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    Antigen processing: Ubiquitination & Proteasome degradation
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Mental retardation Intellectual Disability rs5742905, rs267607136, rs267607137, rs2131714307, rs267607038, rs267607042, rs80338685, rs137853127, rs80338815, rs28940893, rs387906309, rs121908096, rs121908099, rs587784365, rs121918315
View all (1024 more)
11533224
Unknown
Disease term Disease name Evidence References Source
Schizophrenia Schizophrenia GWAS
Associations from Text Mining
Disease Name Relationship Type References
Cleft Lip Associate 28877219
Muscular Dystrophy Duchenne Associate 28877219