PJA1 - praja ring finger ubiquitin ligase 1 Gene

Homo sapiens

Also known as RNF70; PRAJA1

Gene ID: 64219 | Gene type: protein coding

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

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

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

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS10588	PJA1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	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

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