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Gene: PJA1 (praja ring finger ubiquitin ligase 1) Homo sapiens
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Symbol: PJA1
Name: praja ring finger ubiquitin ligase 1
Description: 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]
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: E3 ubiquitin-protein ligase Praja-1; praja 1; praja ring finger 1, E3 ubiquitin protein ligase; PRAJA1; RING finger protein 70; RING-type E3 ubiquitin transferase Praja-1; RNF70
Orthologs:
Mus musculus (house mouse) : Pja1 (praja ring finger ubiquitin ligase 1)  MGI  Alliance
Rattus norvegicus (Norway rat) : Pja1 (praja ring finger ubiquitin ligase 1)  Alliance
Chinchilla lanigera (long-tailed chinchilla) : Pja1 (praja ring finger ubiquitin ligase 1)
Pan paniscus (bonobo/pygmy chimpanzee) : PJA1 (praja ring finger ubiquitin ligase 1)
Canis lupus familiaris (dog) : PJA1 (praja ring finger ubiquitin ligase 1)
Ictidomys tridecemlineatus (thirteen-lined ground squirrel) : Pja1 (praja ring finger ubiquitin ligase 1)
Sus scrofa (pig) : PJA1 (praja ring finger ubiquitin ligase 1)
more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38X69,160,738 - 69,165,522 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X68,380,581 - 68,385,365 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36X68,297,422 - 68,302,065 (-)NCBINCBI36hg18NCBI36
Build 34X68,163,718 - 68,166,409NCBI
CeleraX68,733,493 - 68,738,277 (-)NCBI
Cytogenetic MapXq13.1NCBI
HuRefX62,204,531 - 62,209,313 (-)NCBIHuRef
CHM1_1X68,273,990 - 68,278,774 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations
Gene-Chemical Interaction Annotations
Gene Ontology Annotations
References - curated
References - uncurated

Genomics

Comparative Map Data
Position Markers
miRNA Target Status

Sequence

Nucleotide Sequences
Protein Sequences
Promoters
Clinical Variants

Additional Information

External Database Links
Nomenclature History
 
More on PJA1
Alliance Gene
NCBI Gene
Ensembl Gene
JBrowse: hg19 hg38
HGNC Report
NCBI Genome Data Viewer

CRRD Object Information
CRRD ID: 1353522
Created: 2005-03-08
Species: Homo sapiens
Last Modified: 2019-08-06
Status: ACTIVE



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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.