PJA1 - praja ring finger ubiquitin ligase 1 Gene

Also Known as RNF70; PRAJA1

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 64219

About PJA1

Cytogenetic location: Xq13.1 Genomic coordinates (GRCh38): X:69,160,746-69,165,453 (from NCBI)

This gene has 7 transcripts (splice variants), 124 orthologues and 1 paralogue. Broad expression in brain (RPKM 23.0), testis (RPKM 16.5) and 24 other tissues.

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 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]

PJA1 Products (5)

mRNA	Protein	Name
NM_001032396.4	NP_001027568.1	E3 ubiquitin-protein ligase Praja-1 isoform b
NM_001382775.1	NP_001369704.1	E3 ubiquitin-protein ligase Praja-1 isoform a
NM_001382776.1	NP_001369705.1	E3 ubiquitin-protein ligase Praja-1 isoform b
NM_022368.5	NP_071763.2	E3 ubiquitin-protein ligase Praja-1 isoform c
NM_145119.4	NP_660095.1	E3 ubiquitin-protein ligase Praja-1 isoform a

Gene Ontology

Molecular Function

Molecular Function GO Annotation	Evidence	Verweise	Source
enables protein binding	IPI IPI: Inferred from physical interaction	20864041	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

PJA1 Protein Structure

zf-RING_2

0
100
200
300
400
500
600
643 a.a.

Protein Preferred Names	Protein Names
E3 ubiquitin-protein ligase Praja-1	RING finger protein 70

PJA1 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Verweise
Intra	PJA1	Q8NG27	NSMCE3	Homo sapiens	Q96MG7	Anti Tag CoIP	33961781
Intra	PJA1	Q8NG27	NSMCE3	Homo sapiens	Q96MG7	Anti Tag CoIP	28514442
Intra	PJA1	Q8NG27	MAGED1	Homo sapiens	Q9Y5V3	Validated Y2H	32296183

Cross: Cross-species interaction Intra: Intraspecies interaction

PJA1 Antibodies

Art. -Nr.	Produktname	Anwendung	Reactivity
HY-P89820	PJA1 Antibody (YA9164)	WB, IP, ELISA	human

Related Diseases

Diseases	Alias
Craniofrontonasal Syndrome	Craniofrontonasal Dysplasia CFNS Cfnd Craniofrontonasal Dysostosis Craniofrontonasal Dystosis Dysplasia, Craniofrontonasal
Cleft Palate With Or Without Ankyloglossia, X-Linked	Cleft Palate With Ankyloglossia CPX X-Linked Cleft Palate And Ankyloglossia X-Linked Cleft Palate With Or Without Ankyloglossia X-Linked Cleft Palate X-Linked Cleft Palate With Ankyloglossia Cleft Palate, With/Without Ankyloglossia, X-Linked
Autosomal Recessive Alport Syndrome	Alport Syndrome, Recessive Type Alport Syndrome, Autosomal Recessive Alport Syndrome Autosomal Recessive Alport Syndrome Recessive Type Nephropathy And Deafness
Parietal Foramina	Enlarged Parietal Foramina Hereditary Cranium Bifidum Symmetric Parietal Foramina Catlin Marks Foramina Parietalia Permagna Caitlin Marks Cranium Bifidum Cranium Bifidum Occultum Fenestrae Parietals Symmetricae Fpp Giant Parietal Foramina Pfm Fenestrae Parietales Symmetricae Foramina, Parietal

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

Art. -Nr.	Produktname	Wirkung	Reinheit	Rare Diseases
HY-RS10588	PJA1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	PJA1	MGD	MGI:1101765
Canis familiaris	PJA1	VGNC	VGNC:54180
Bos taurus	PJA1	VGNC	VGNC:106867
Rattus norvegicus	PJA1	RGD	RGD:1591532
Others	PJA1	NCBI