1. Gene
  2. USP14 - ubiquitin specific peptidase 14 Gene

USP14 - ubiquitin specific peptidase 14 Gene

Homo sapiens

Also known as TGT; Ubp6

Gene ID: 9097 | Gene type: protein coding

About USP14

Cytogenetic location: 18p11.32 Genomic coordinates (GRCh38): 18:158,557-214,629 (from NCBI)

This gene has 9 transcripts (splice variants), 217 orthologues, 71 paralogues and is associated with 1 phenotype. Ubiquitous expression in brain (RPKM 16.7), prostate (RPKM 15.4) and 25 other tissues.

Summary

This gene encodes a member of the ubiquitin-specific processing (UBP) family of proteases that is a deubiquitinating Enzyme (DUB) with His and Cys domains. This protein is located in the cytoplasm and cleaves the ubiquitin moiety from ubiquitin-fused precursors and ubiquitinylated proteins. Mice with a mutation that results in reduced expression of the ortholog of this protein are retarded for growth, develop severe tremors by 2 to 3 weeks of age followed by hindlimb paralysis and death by 6 to 10 weeks of age. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]

USP14 Products(2)

mRNA Protein Name
NM_001037334.2 NP_001032411.1 ubiquitin carboxyl-terminal hydrolase 14 isoform b
NM_005151.4 NP_005142.1 ubiquitin carboxyl-terminal hydrolase 14 isoform a

USP14 Protein Structure

UCH

UCH: Ubiquitin carboxyl-terminal hydrolase (104 - 480)

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  • 494 a.a.
Protein Preferred Names Protein Names

ubiquitin carboxyl-terminal hydrolase 14

deubiquitinating enzyme 14

Recombinant USP14 Proteins

Cat. No. Product Name Accession Purity
HY-P71418 USP14 Protein, Human (His) P54578 (D91-Q494) ≥95%
HY-P700272 USP14 Protein, Human (N-His) P54578 (M1-Q494) ≥95%

Related Diseases

Diseases Alias
Autosomal Dominant Cerebellar Ataxia

Spinocerebellar Ataxia

Adca

Pierre Marie Cerebellar Ataxia

Ataxia, Spinocerebellar

Sca

Autosomal Dominant Spinocerebellar Ataxia

Spinocerebellar Ataxias

Microcephaly

Microencephaly

Microcephalus

Microcephalic

Nanocephaly

Congenital Microcephaly

Brain Hypoplasia

Brain Nondevelopment

Cephalic Hypoplasia

Undeveloped Cerebrum

Undeveloped Brain

Micrencephalon

Micrencephaly

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 USP14 VGNC VGNC:48179
Rattus norvegicus USP14 RGD RGD:1311825
Felis catus USP14 VGNC VGNC:66868
Bos taurus USP14 VGNC VGNC:36712
Macaca mulatta USP14 VGNC VGNC:78736
Mus musculus USP14 MGD MGI:1928898
Others USP14 NCBI