1. Gene
  2. USP20 - ubiquitin specific peptidase 20 Gene

USP20 - ubiquitin specific peptidase 20 Gene

Homo sapiens

Also known as VDU2; hVDU2; LSFR3A

Gene ID: 10868 | Gene type: protein coding

About USP20

Cytogenetic location: 9q34.11 Genomic coordinates (GRCh38): 9:129,835,458-129,881,828 (from NCBI)

This gene has 9 transcripts (splice variants), 207 orthologues and 71 paralogues. Ubiquitous expression in lymph node (RPKM 8.9), bone marrow (RPKM 8.3) and 25 other tissues.

Summary

This gene encodes a ubiquitin specific processing protease that was first identified as a substrate of the VHL (von Hippel-Lindau disease) protein E3 ubiquitin ligase complex. In addition to being ubiquitinated by the VHL-E3 ligase complex, this Enzyme deubiquitinates hypoxia-inducible factor (HIF)-1 alpha and thereby causes increased expression of HIF-1alpha targeted genes which play a role in angiogenesis, glucose metabolism, cell proliferation and metastasis. The Enzyme encoded by this gene also regulates G-protein coupled receptor signaling by mediating the deubiquitination of beta-2 Adrenergic Receptor (ADRB2). This Enzyme is a ubiquitously expressed thiolester hydrolase. Alternative splicing results in multiple transcript variants encoding the same protein. [provided by RefSeq, Jan 2013]

USP20 Products(3)

mRNA Protein Name
NM_001008563.5 NP_001008563.2 ubiquitin carboxyl-terminal hydrolase 20
NM_001110303.4 NP_001103773.2 ubiquitin carboxyl-terminal hydrolase 20
NM_006676.8 NP_006667.3 ubiquitin carboxyl-terminal hydrolase 20

USP20 Protein Structure

zf-UBP

zf-UBP: Zn-finger in ubiquitin-hydrolases and other protein (30 - 91)

UCH

UCH: Ubiquitin carboxyl-terminal hydrolase (145 - 682)

DUSP

DUSP: DUSP domain (817 - 888)

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  • 914 a.a.
Protein Preferred Names Protein Names

ubiquitin carboxyl-terminal hydrolase 20

deubiquitinating enzyme 20

Related Diseases

Diseases Alias
Intellectual Developmental Disorder, Autosomal Dominant 22

MRD22

Mental Retardation, Autosomal Dominant 22

Autosomal Dominant Non-Syndromic Intellectual Disability 22

Distal Monosomy 1q

Autosomal Dominant Intellectual Developmental Disorder 22

Autosomal Dominant Mental Retardation 22

Distal Deletion 1q

Monosomy 1qter

Telomeric Deletion 1q

Mental Retardation, Autosomal Dominant, Type 22

Torch Syndrome
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

Orthologs Information

Species Symbol Source ID
Canis familiaris USP20 VGNC VGNC:48182
Rattus norvegicus USP20 RGD RGD:1305621
Felis catus USP20 VGNC VGNC:66872
Macaca mulatta USP20 VGNC VGNC:78740
Bos taurus USP20 VGNC VGNC:36715
Mus musculus USP20 MGD MGI:1921520