UBLCP1 ubiquitin like domain containing CTD phosphatase 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: UBLCP1provided by HGNC
Official Full Name: ubiquitin like domain containing CTD phosphatase 1provided by HGNC
Primary source: HGNC:HGNC:28110
See related: Ensembl:ENSG00000164332 MIM:609867; AllianceGenome:HGNC:28110
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: CPUB1
Summary: Enables proteasome regulatory particle binding activity and protein serine/threonine phosphatase activity. Involved in negative regulation of ATP-dependent activity and regulation of proteasome assembly. Located in nucleolus and nucleoplasm. [provided by Alliance of Genome Resources, Nov 2024]
Expression: Ubiquitous expression in testis (RPKM 19.2), brain (RPKM 17.4) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 5q33.3

Exon count:: 11

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	5	NC_000005.10 (159263290..159286036)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	5	NC_060929.1 (159791779..159814534)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	5	NC_000005.9 (158690298..158713044)

Chromosome 5 - NC_000005.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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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?

A novel autism-associated UBLCP1 mutation impacts proteasome regulation/activity.
Title: A novel autism-associated UBLCP1 mutation impacts proteasome regulation/activity.
Study provides evidence that Rpn1-Ser361 is a prevalent phosphosite that is required for proper assembly and activity of the 26S proteasome and identified multiple kinases, including PIM1/2/3, that can phosphorylate Rpn1-S361 and have demonstrated that UBLCP1 is a physiologically relevant phosphatase of this site. Blocking phosphorylation of Rpn1-S361 leads to slowed proliferation and mitochondrial dysfunction.
Title: Reversible phosphorylation of Rpn1 regulates 26S proteasome assembly and function.
Data show that UBLCP1 selectively binds to the 26S proteasome non-ATPase regulatory subunit 13 (19S regulatory particle) in regulating proteasome assembly.
Title: Phosphatase UBLCP1 controls proteasome assembly.
the high-resolution solution structure of the UBL domain of human UBLCP1 and its interaction with Rpn1
Title: Solution structure and Rpn1 interaction of the UBL domain of human RNA polymerase II C-terminal domain phosphatase.
UBLCP1 is a 26S proteasome phosphatase that regulates nuclear proteasome activity
Title: UBLCP1 is a 26S proteasome phosphatase that regulates nuclear proteasome activity.

Submit: New GeneRIF Correction

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)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH36361 (e-PCR)
- UniSTS:62781

RH93697 (e-PCR)
- UniSTS:89929

RH41101 (e-PCR)
- UniSTS:84612

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables MAP kinase serine/threonine phosphatase activity	IEA Inferred from Electronic Annotation more info
enables RNA polymerase II CTD heptapeptide repeat S2 phosphatase activity	IEA Inferred from Electronic Annotation more info
enables RNA polymerase II CTD heptapeptide repeat S5 phosphatase activity	IEA Inferred from Electronic Annotation more info
enables RNA polymerase II CTD heptapeptide repeat S7 phosphatase activity	IEA Inferred from Electronic Annotation more info
enables RNA polymerase II CTD heptapeptide repeat T4 phosphatase activity	IEA Inferred from Electronic Annotation more info
enables RNA polymerase II CTD heptapeptide repeat Y1 phosphatase activity	IEA Inferred from Electronic Annotation more info
enables calmodulin-dependent protein phosphatase activity	IEA Inferred from Electronic Annotation more info
enables histone H2AXS140 phosphatase activity	IEA Inferred from Electronic Annotation more info
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables myosin phosphatase activity	IEA Inferred from Electronic Annotation more info
enables proteasome regulatory particle binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein serine/threonine phosphatase activity	IBA Inferred from Biological aspect of Ancestor more info
enables protein serine/threonine phosphatase activity	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in chromatin remodeling	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of ATP-dependent activity	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of proteasome assembly	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of proteasome assembly	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of transcription by RNA polymerase II	IEA Inferred from Electronic Annotation more info

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

General protein information

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Preferred Names: ubiquitin-like domain-containing CTD phosphatase 1

Names: CTD phosphatase-like with ubiquitin domain 1; CTD-like phosphatase domain-containing protein; nuclear proteasome inhibitor UBLCP1

NP_659486.2

EC 3.1.3.16

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_145049.5 → NP_659486.2 ubiquitin-like domain-containing CTD phosphatase 1

See identical proteins and their annotated locations for NP_659486.2

Status: VALIDATED

Source sequence(s)

AC011418, AY444562, DA930581

Consensus CDS

CCDS4345.1

UniProtKB/Swiss-Prot

D3DQJ7, Q8WVY7, Q96DK5

Related

ENSP00000296786.6, ENST00000296786.8

Conserved Domains (2) summary

TIGR02245
Location:117 → 311

HAD_IIID1; HAD-superfamily subfamily IIID hydrolase, TIGR02245

cd01813
Location:3 → 77

Ubl_UBLCP1; ubiquitin-like (Ubl) domain found in ubiquitin-like domain-containing CTD phosphatase 1 (UBLCP1) and similar proteins