PJA1

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 cognitive disability 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]

Description

Praja ring finger ubiquitin ligase 1

Tissue specificity

Tissue enhanced (epididymis)

Subcell location

Nucleoplasm, Nucleoli

Predicted location

Intracellular

Protein family

Enzymes
Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Metabolic proteins
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Protein evidence (Kim et al 2014)

Chromosome

X (69160851 - 69165521)

Ensembl ID

ENSG00000181191  (ver. 103.38)

Orthologs

Mouse Pja1: ENSMUSG00000034403

UniProt

Q8NG27

neXtProt

NX_Q8NG27

Human splice variants
Mouse splice variants

Protein structure