JOSD1 - Josephin domain containing 1 Gene

Homo sapiens

Also known as dJ508I15.2

Gene ID: 9929 | Gene type: protein coding

About JOSD1

Cytogenetic location: 22q13.1 Genomic coordinates (GRCh38): 22:38,685,543-38,701,403 (from NCBI)

This gene has 10 transcripts (splice variants), 218 orthologues and 1 paralogue. Ubiquitous expression in bone marrow (RPKM 27.2), gall bladder (RPKM 19.0) and 25 other tissues.

Summary

Predicted to enable thiol-dependent Deubiquitinase. Predicted to be involved in protein deubiquitination. Located in membrane. [provided by Alliance of Genome Resources, Apr 2022]

JOSD1 Products(3)

mRNA	Protein	Name
NM_001360235.2	NP_001347164.1	josephin-1
NM_001360236.2	NP_001347165.1	josephin-1
NM_014876.7	NP_055691.1	josephin-1

JOSD1 Protein Structure

Josephin

0
100
202 a.a.

Protein Preferred Names

Protein Names

josephin-1

josephin domain-containing 1

Related Diseases

Diseases

Alias

Machado-Joseph Disease

SCA3	MJD
Spinocerebellar Ataxia 3	Azorean Disease
Spinocerebellar Ataxia Type 3	Spinocerebellar Atrophy
Azorean Neurologic Disease	Spinopontine Atrophy
Nigrospinodentatal Degeneration	Spinocerebellar Atrophy Iii
Spinocerebellar Atrophy Type 3	Azorean Ataxia
Azorean Disease Of The Nervous System	Machado Disease
Nigro-Spino-Dentatal Degeneration With Nuclear Ophthalmoplegia	Disease, Machado-Joseph
Ataxia, Spinocerebellar

Autosomal Dominant Cerebellar Ataxia

Spinocerebellar Ataxia	Adca
Pierre Marie Cerebellar Ataxia	Ataxia, Spinocerebellar
Sca	Autosomal Dominant Spinocerebellar Ataxia
Spinocerebellar Ataxias

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-RS07043	JOSD1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Macaca mulatta	JOSD1	VGNC	VGNC:73920
Felis catus	JOSD1	VGNC	VGNC:84041
Bos taurus	JOSD1	VGNC	VGNC:30379
Rattus norvegicus	JOSD1	RGD	RGD:1305388
Canis familiaris	JOSD1	VGNC	VGNC:42192
Mus musculus	JOSD1	MGD	MGI:1921408
Others	JOSD1	NCBI

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