Homo sapiens Gene: PJA1
Summary
InnateDB Gene IDBG-74069.7
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol PJA1
Gene Name praja ring finger 1, E3 ubiquitin protein ligase
Synonyms
Species Homo sapiens
Ensembl Gene ENSG00000181191
Encoded Proteins
praja ring finger 1
praja ring finger 1
praja ring finger 1
praja ring finger 1
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
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 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]
Gene Information
Type Protein coding
Genomic Location Chromosome X:69160851-69165793
Strand Reverse strand
Band q13.1
Transcripts
ENST00000374584 ENSP00000363712
ENST00000374583 ENSP00000363711
ENST00000361478 ENSP00000355014
ENST00000374571 ENSP00000363699
ENST00000471141 ENSP00000467564
ENST00000477231
ENST00000590146 ENSP00000467404
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 43 experimentally validated interaction(s) in this database.
They are also associated with 2 interaction(s) predicted by orthology.
Experimentally validated
Total 43 [view]
Protein-Protein 43 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 2 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0004842 ubiquitin-protein transferase activity
GO:0005515 protein binding
GO:0008270 zinc ion binding
GO:0016874 ligase activity
GO:0046872 metal ion binding
Biological Process
GO:0016567 protein ubiquitination
GO:0030163 protein catabolic process
Cellular Component
GO:0005737 cytoplasm
Orthologs
Species
Mus musculus
Gene ID
Gene Order
Pathways
NETPATH
TGF_beta_Receptor pathway
REACTOME
Antigen processing: Ubiquitination & Proteasome degradation pathway
Adaptive Immune System pathway
Immune System pathway
Class I MHC mediated antigen processing & presentation pathway
KEGG
INOH
PID NCI
Cross-References
SwissProt
TrEMBL K7EPI8
UniProt Splice Variant
Entrez Gene 64219
UniGene Hs.522679
RefSeq NM_001032396 NM_022368 NM_145119 XM_005262292
HUGO HGNC:16648
OMIM 300420
CCDS CCDS14392 CCDS14393 CCDS35316
HPRD 02335
IMGT
EMBL AL157699
GenPept
RNA Seq Atlas 64219