ZUP1 zinc finger containing ubiquitin peptidase 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: ZUP1provided by HGNC
Official Full Name: zinc finger containing ubiquitin peptidase 1provided by HGNC
Primary source: HGNC:HGNC:21224
See related: Ensembl:ENSG00000153975 MIM:620543; AllianceGenome:HGNC:21224
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: DUB; ZUFSP; C6orf113
Summary: This gene encodes a protein containing zinc finger motifs and a cysteine peptidase domain. The encoded protein functions as a K63-specific de-ubiquitinating enzyme that specifically cleaves long K63-linked polyubiquitin chains in the middle of a chain (i.e. "endo cleavage) rather than by removing the terminal ubiquitin from a chain. This enzyme is thought to be involved in the regulation of DNA repair by cleaving K63-linked ubiquitin chains at repair foci. This protein is related to proteases for the ubiquitin-like modifiers Ufm1 (ubiquitin fold modifier 1) and Atg8/Gabarapl2, but does not have any activity on these modifiers. [provided by RefSeq, Mar 2018]
Expression: Ubiquitous expression in duodenum (RPKM 4.7), bone marrow (RPKM 4.6) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 6q22.1

Exon count:: 11

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	6	NC_000006.12 (116635618..116668766, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	6	NC_060930.1 (117819329..117852469, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	6	NC_000006.11 (116956781..116989929, complement)

Chromosome 6 - NC_000006.12 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?

Functional Analysis of Single Nucleotide Polymorphism in ZUFSP Protein and Implication in Pathogenesis.
Title: Functional Analysis of Single Nucleotide Polymorphism in ZUFSP Protein and Implication in Pathogenesis.
ZUFSP is recruited to and regulates K63-Ub conjugates at genotoxic stress sites, promoting chromosome stability upon replication stress in a manner dependent on its catalytic activity.
Title: ZUFSP Deubiquitylates K63-Linked Polyubiquitin Chains to Promote Genome Stability.
Identify two ubiquitin binding domains in ZUFSP: a ZHA (ZUFSP helical arm) that binds to the distal ubiquitin and an atypical UBZ domain in ZUFSP that binds to polyubiquitin. Importantly, both domains are essential for ZUFSP to selectively cleave K63-linked polyubiquitin.
Title: Discovery and Characterization of ZUFSP/ZUP1, a Distinct Deubiquitinase Class Important for Genome Stability.
ZUFSP,the singular human member of this family, which contains multiple ubiquitin-binding domains responsible for the specific action on K63-linked chains.
Title: A family of unconventional deubiquitinases with modular chain specificity determinants.
ZUFSP (ZUP1) is a K63-specific deubiquitinating enzyme that is distantly related to proteases for the ubiquitin-like modifiers Ufm1 and Atg8. ZUFSP does not have any activity on these modifiers. ZUFSP specifically cleaves long K63-linked poly-ubiquitin chains in an ""endo"" mode, i.e. cleavage takes place in the middle of a chain rather than by removing the terminal ubiquitin from a chain.
Title: A family of unconventional deubiquitinases with modular chain specificity determinants.

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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

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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Protein interactions

Protein	Gene	Interaction	Pubs
Vpr	vpr	A stable-isotope labeling by amino acids in cell culture coupled with mass spectrometry-based proteomics identifies downregulation of zinc finger with UFM1-specific peptidase domain (ZUFSP) expression by HIV-1 Vpr in Vpr transduced macrophages	PubMed

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Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables cysteine-type deubiquitinase activity	IEA Inferred from Electronic Annotation more info
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Component	Evidence Code	Pubs
located_in cytosol	IDA Inferred from Direct Assay more info
located_in nucleoplasm	IDA Inferred from Direct Assay more info

General protein information

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Preferred Names: zinc finger-containing ubiquitin peptidase 1

Names: lys-63-specific deubiquitinase ZUFSP; ubiquitin carboxyl-terminal hydrolase ZUFSP; zinc finger with UFM1-specific peptidase domain protein

NP_001348118.1

EC 3.4.19.12

NP_001348119.1

EC 3.4.19.12

NP_001348120.1

EC 3.4.19.12

NP_659499.2

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.

mRNA and Protein(s)

NM_001361189.2 → NP_001348118.1 zinc finger-containing ubiquitin peptidase 1 isoform 1

Status: REVIEWED

Source sequence(s)

AL132795

Consensus CDS

CCDS5110.1

UniProtKB/Swiss-Prot

Q5TD92, Q6PJH7, Q96AP4, Q96NV6

UniProtKB/TrEMBL

A0A0S2Z605, A0A0S2Z644

Conserved Domains (1) summary

pfam07910
Location:336 → 551

Peptidase_C78; Peptidase family C78
NM_001361190.2 → NP_001348119.1 zinc finger-containing ubiquitin peptidase 1 isoform 2

Status: REVIEWED

Source sequence(s)

AL132795

Conserved Domains (1) summary

pfam07910
Location:168 → 383

Peptidase_C78; Peptidase family C78
NM_001361191.2 → NP_001348120.1 zinc finger-containing ubiquitin peptidase 1 isoform 3

Status: REVIEWED

Source sequence(s)

AL132795

Conserved Domains (1) summary

pfam07910
Location:140 → 355

Peptidase_C78; Peptidase family C78
NM_145062.3 → NP_659499.2 zinc finger-containing ubiquitin peptidase 1 isoform 1

See identical proteins and their annotated locations for NP_659499.2

Status: REVIEWED

Source sequence(s)

BC016879

Consensus CDS

CCDS5110.1

UniProtKB/Swiss-Prot

Q5TD92, Q6PJH7, Q96AP4, Q96NV6

UniProtKB/TrEMBL

A0A0S2Z605, A0A0S2Z644

Related

ENSP00000357565.3, ENST00000368576.8

Conserved Domains (1) summary

pfam07910
Location:336 → 551

Peptidase_C78; Peptidase family C78