USP26 ubiquitin specific peptidase 26 [Homo sapiens (human)] - Gene

Summary

Official Symbol: USP26provided by HGNC
Official Full Name: ubiquitin specific peptidase 26provided by HGNC
Primary source: HGNC:HGNC:13485
See related: Ensembl:ENSG00000134588 MIM:300309; AllianceGenome:HGNC:13485
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: SPGFX6
Summary: This gene encodes a member of the ubiquitin-specific processing (UBP) family of proteases and is a deubiquitinating enzyme (DUB) with His and Cys domains. It is specifically expressed in testis tissue. Mutations in this gene have been associated with Sertoli cell-only syndrome and male infertility. [provided by RefSeq, Jul 2008]
Expression: Low expression observed in reference dataset See more
Orthologs: mouse all
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Genomic context

Location:: Xq26.2

Exon count:: 6

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	X	NC_000023.11 (133023168..133097109, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	X	NC_060947.1 (131347885..131421825, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	X	NC_000023.10 (132157196..132231137, complement)

Chromosome X - NC_000023.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Machine learning-based classification of deubiquitinase USP26 and its cell proliferation inhibition through stabilizing KLF6 in cervical cancer.
Title: Machine learning-based classification of deubiquitinase USP26 and its cell proliferation inhibition through stabilizing KLF6 in cervical cancer.
An RNF12-USP26 amplification loop drives germ cell specification and is disrupted by disease-associated mutations.
Title: An RNF12-USP26 amplification loop drives germ cell specification and is disrupted by disease-associated mutations.
The association between mutations in ubiquitin-specific protease 26 (USP26) and male infertility: a systematic review and meta-analysis.
Title: The association between mutations in ubiquitin-specific protease 26 (USP26) and male infertility: a systematic review and meta-analysis.
USP26 promotes anaplastic thyroid cancer progression by stabilizing TAZ.
Title: USP26 promotes anaplastic thyroid cancer progression by stabilizing TAZ.
Paternal USP26 mutations raise Klinefelter syndrome risk in the offspring of mice and humans.
Title: Paternal USP26 mutations raise Klinefelter syndrome risk in the offspring of mice and humans.
Novel Mutations in X-Linked, USP26-Induced Asthenoteratozoospermia and Male Infertility.
Title: Novel Mutations in X-Linked, USP26-Induced Asthenoteratozoospermia and Male Infertility.
These results represent the first in vivo evidence showing that USP26 is not essential for mouse gametogenesis.
Title: Ubiquitin-specific protease 26 (USP26) is not essential for mouse gametogenesis and fertility.
findings demonstrate TGF-beta enhances expression of USP26 and reinforces SMAD7 stability by limiting the ubiquitin-mediated turnover of SMAD7; clinically, loss of USP26 correlates with high TGF-beta activity and confers poor prognosis in glioblastoma; data identify USP26 as a novel negative regulator of the TGF-beta pathway and suggest that loss of USP26 expression may be an important factor in glioblastoma pathogenesis
Title: USP26 regulates TGF-β signaling by deubiquitinating and stabilizing SMAD7.
Data show that USP26 interacts with PRC1 components chromobox (CBX)-containing proteins CBX4 and CBX6.
Title: USP26 functions as a negative regulator of cellular reprogramming by stabilising PRC1 complex components.
A novel USP26 variant p.R344W is associated with nonobstructive azoospermia probably through affecting androgen receptor function.
Title: A Novel Missense Mutation in USP26 Gene Is Associated With Nonobstructive Azoospermia.

Submit: New GeneRIF Correction See all GeneRIFs (28)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Spermatogenic failure, X-linked, 6 MedGen: C5829562 OMIM: 301101 GeneReviews: Not available	not available

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Replication interactions

Interaction	Pubs
Knockdown of ubiquitin specific peptidase 26 (USP26) by siRNA inhibits HIV-1 replication in HeLa-derived TZM-bl cells	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

USP26__5043 (e-PCR)
- UniSTS:468786

G65777 (e-PCR)
- UniSTS:225932

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables K48-linked deubiquitinase activity	IDA Inferred from Direct Assay more info	PubMed
enables cysteine-type deubiquitinase activity	IBA Inferred from Biological aspect of Ancestor more info
enables deubiquitinase activity	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in G1/S transition of mitotic cell cycle	IBA Inferred from Biological aspect of Ancestor more info
involved_in negative regulation of proteasomal ubiquitin-dependent protein catabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in protein deubiquitination	IBA Inferred from Biological aspect of Ancestor more info
involved_in proteolysis	IEA Inferred from Electronic Annotation more info
involved_in regulation of androgen receptor signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in spermatogenesis	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in cytoskeleton	IEA Inferred from Electronic Annotation more info
is_active_in cytosol	IBA Inferred from Biological aspect of Ancestor more info
located_in cytosol	IDA Inferred from Direct Assay more info
located_in nucleoplasm	IDA Inferred from Direct Assay more info
located_in nucleoplasm	TAS Traceable Author Statement more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed
located_in sperm flagellum	IMP Inferred from Mutant Phenotype more info	PubMed

General protein information

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Preferred Names: ubiquitin carboxyl-terminal hydrolase 26

Names: deubiquitinating enzyme 26; ubiquitin specific protease 26; ubiquitin thioesterase 26; ubiquitin thiolesterase 26; ubiquitin-specific processing protease 26

NP_114113.1

EC 3.4.19.12

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_013268.1 RefSeqGene

Range

5001..8642

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_031907.3 → NP_114113.1 ubiquitin carboxyl-terminal hydrolase 26

See identical proteins and their annotated locations for NP_114113.1

Status: REVIEWED

Source sequence(s)

Z81365

Consensus CDS

CCDS14635.1

UniProtKB/Swiss-Prot

B9WRT6, Q5H9H4, Q9BXU7

UniProtKB/TrEMBL

Q495F8

Related

ENSP00000423390.1, ENST00000511190.6

Conserved Domains (3) summary

cd02257
Location:296 → 558

Peptidase_C19; Peptidase C19 contains ubiquitinyl hydrolases. They are intracellular peptidases that remove ubiquitin molecules from polyubiquinated peptides by cleavage of isopeptide bonds. They hydrolyse bonds involving the carboxyl group of the C-terminal Gly ...

pfam00443
Location:296 → 559

UCH; Ubiquitin carboxyl-terminal hydrolase

pfam16674
Location:3 → 103

UCH_N; N-terminal of ubiquitin carboxyl-terminal hydrolase 37