UBA52 ubiquitin A-52 residue ribosomal protein fusion product 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: UBA52provided by HGNC
Official Full Name: ubiquitin A-52 residue ribosomal protein fusion product 1provided by HGNC
Primary source: HGNC:HGNC:12458
See related: Ensembl:ENSG00000221983 MIM:191321; AllianceGenome:HGNC:12458
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: L40; CEP52; RPL40; HUBCEP52
Summary: Ubiquitin is a highly conserved nuclear and cytoplasmic protein that has a major role in targeting cellular proteins for degradation by the 26S proteosome. It is also involved in the maintenance of chromatin structure, the regulation of gene expression, and the stress response. Ubiquitin is synthesized as a precursor protein consisting of either polyubiquitin chains or a single ubiquitin moiety fused to an unrelated protein. This gene encodes a fusion protein consisting of ubiquitin at the N terminus and ribosomal protein L40 at the C terminus, a C-terminal extension protein (CEP). Multiple processed pseudogenes derived from this gene are present in the genome. [provided by RefSeq, Jul 2008]
Expression: Ubiquitous expression in ovary (RPKM 89.0), bone marrow (RPKM 83.5) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 19p13.11

Exon count:: 7

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	19	NC_000019.10 (18563766..18577550)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	19	NC_060943.1 (18698806..18712614)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	19	NC_000019.9 (18682534..18688360)

Chromosome 19 - NC_000019.10 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?

SMYD5 methylation of rpL40 links ribosomal output to gastric cancer.
Title: SMYD5 methylation of rpL40 links ribosomal output to gastric cancer.
Inhibition of UBA52 induces autophagy via EMC6 to suppress hepatocellular carcinoma tumorigenesis and progression.
Title: Inhibition of UBA52 induces autophagy via EMC6 to suppress hepatocellular carcinoma tumorigenesis and progression.
UBA80 and UBA52 fine-tune RNF168-dependent histone ubiquitination and DNA repair.
Title: UBA80 and UBA52 fine-tune RNF168-dependent histone ubiquitination and DNA repair.
RPS27a and RPL40, Which Are Produced as Ubiquitin Fusion Proteins, Are Not Essential for p53 Signalling.
Title: RPS27a and RPL40, Which Are Produced as Ubiquitin Fusion Proteins, Are Not Essential for p53 Signalling.
our findings indicate that suppression of LUCAT1 induces CRC cell cycle arrest and apoptosis by binding UBA52 and activating the RPL40-MDM2-p53 pathway. These results implicate LUCAT1 as a potential prognostic biomarker and therapeutic target for CRC.
Title: LUCAT1 promotes colorectal cancer tumorigenesis by targeting the ribosomal protein L40-MDM2-p53 pathway through binding with UBA52.
UBA52 supplies RPL40 and ubiquitin simultaneously to the ribosome.
Title: The ubiquitin hybrid gene UBA52 regulates ubiquitination of ribosome and sustains embryonic development.
Select activation-degradation regions like the ones found in EKLF and SREBP1a function in part through their ability to form noncovalent interactions with ubiquitin.
Title: Structural characterization of a noncovalent complex between ubiquitin and the transactivation domain of the erythroid-specific factor EKLF.

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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
Pr55(Gag)	gag	Cellular biotinylated ubiquitin A-52 residue ribosomal protein fusion product 1 protein (UBA52, ubiquitin-60S ribosomal protein L40) is incorporated into HIV-1 Gag virus-like particles	PubMed
Vpr	vpr	A stable-isotope labeling by amino acids in cell culture coupled with mass spectrometry-based proteomics identifies upregulation of ubiquitin A-52 ribosomal protein fusion product 1 (UBA52, RPL40) expression by HIV-1 Vpr in Vpr transduced macrophages	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

D11S2921 (e-PCR)
- UniSTS:152074

RH92993 (e-PCR)
- UniSTS:85519

D14S594 (e-PCR)
- UniSTS:30246

D8S2279 (e-PCR)
- UniSTS:473907

NoName (e-PCR)
- UniSTS:489012

G62023 (e-PCR)
- UniSTS:139108

D11S3114 (e-PCR)
- UniSTS:152207

RH104429 (e-PCR)
- UniSTS:98754

RP_L40 (e-PCR)
- UniSTS:58610

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein tag activity	IBA Inferred from Biological aspect of Ancestor more info
enables structural constituent of ribosome	IBA Inferred from Biological aspect of Ancestor more info
enables structural constituent of ribosome	IDA Inferred from Direct Assay more info	PubMed
enables structural constituent of ribosome	NAS Non-traceable Author Statement more info	PubMed
enables ubiquitin protein ligase binding	IBA Inferred from Biological aspect of Ancestor more info

Process	Evidence Code	Pubs
involved_in cytoplasmic translation	IC Inferred by Curator more info	PubMed
involved_in cytoplasmic translation	IDA Inferred from Direct Assay more info	PubMed
involved_in cytoplasmic translation	NAS Non-traceable Author Statement more info	PubMed
involved_in modification-dependent protein catabolic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in protein modification process	TAS Traceable Author Statement more info
involved_in protein ubiquitination	IBA Inferred from Biological aspect of Ancestor more info
involved_in translation	NAS Non-traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in cytoplasm	NAS Non-traceable Author Statement more info	PubMed
located_in cytosol	IDA Inferred from Direct Assay more info
located_in cytosol	TAS Traceable Author Statement more info
part_of cytosolic large ribosomal subunit	HDA more info	PubMed
part_of cytosolic large ribosomal subunit	IDA Inferred from Direct Assay more info	PubMed
part_of cytosolic large ribosomal subunit	IPI Inferred from Physical Interaction more info	PubMed
is_active_in cytosolic ribosome	IDA Inferred from Direct Assay more info	PubMed
located_in cytosolic ribosome	IDA Inferred from Direct Assay more info	PubMed
located_in endocytic vesicle membrane	TAS Traceable Author Statement more info
located_in endoplasmic reticulum	IDA Inferred from Direct Assay more info
located_in endoplasmic reticulum membrane	TAS Traceable Author Statement more info
located_in endosome membrane	TAS Traceable Author Statement more info
located_in extracellular exosome	HDA more info	PubMed
located_in extracellular space	HDA more info	PubMed
located_in lysosomal membrane	HDA more info	PubMed
located_in mitochondrial outer membrane	TAS Traceable Author Statement more info
located_in nucleoplasm	IDA Inferred from Direct Assay more info
located_in nucleoplasm	TAS Traceable Author Statement more info
located_in nucleus	HDA more info	PubMed
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	IDA Inferred from Direct Assay more info
located_in plasma membrane	TAS Traceable Author Statement more info
located_in vesicle	HDA more info	PubMed

General protein information

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Preferred Names: ubiquitin-ribosomal protein eL40 fusion protein

Names: ubiquitin carboxyl extension protein 52; ubiquitin-52 amino acid fusion protein; ubiquitin-60S ribosomal protein L40; ubiquitin-CEP52

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_023288.2 RefSeqGene

Range

13093..18786

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001033930.3 → NP_001029102.1 ubiquitin-ribosomal protein eL40 fusion protein isoform 1 precursor

See identical proteins and their annotated locations for NP_001029102.1

Status: REVIEWED

Source sequence(s)

AC005253, AF545864, BQ428515, BQ428688, BU677484, CB124676

Consensus CDS

CCDS12382.1

UniProtKB/Swiss-Prot

P02248, P02249, P02250, P14793, P62987, P62988, Q29120, Q6LBL4, Q6LDU5, Q8WYN8, Q91887, Q91888, Q9BWD6, Q9BX98, Q9UEF2, Q9UEG1, Q9UEK8, Q9UPK7

UniProtKB/TrEMBL

Q3MIH3

Related

ENSP00000388107.1, ENST00000442744.7

Conserved Domains (2) summary

cd01803
Location:1 → 76

Ubl_ubiquitin; ubiquitin-like (Ubl) domain found in ubiquitin

pfam01020
Location:79 → 126

Ribosomal_L40e; Ribosomal L40e family
NM_001321017.2 → NP_001307946.1 ubiquitin-ribosomal protein eL40 fusion protein isoform 1 precursor

Status: REVIEWED

Source sequence(s)

AC005253, AF545864, BQ428515, BU677484, DA949569

Consensus CDS

CCDS12382.1

UniProtKB/Swiss-Prot

P02248, P02249, P02250, P14793, P62987, P62988, Q29120, Q6LBL4, Q6LDU5, Q8WYN8, Q91887, Q91888, Q9BWD6, Q9BX98, Q9UEF2, Q9UEG1, Q9UEK8, Q9UPK7

UniProtKB/TrEMBL

Q3MIH3

Related

ENSP00000472264.1, ENST00000596304.5

Conserved Domains (2) summary

cd01803
Location:1 → 76

Ubl_ubiquitin; ubiquitin-like (Ubl) domain found in ubiquitin

pfam01020
Location:79 → 126

Ribosomal_L40e; Ribosomal L40e family
NM_001321018.2 → NP_001307947.1 ubiquitin-ribosomal protein eL40 fusion protein isoform 1 precursor

Status: REVIEWED

Source sequence(s)

AC005253, AF545864, BG035502, BQ428515, BU677484, CD242660

Consensus CDS

CCDS12382.1

UniProtKB/Swiss-Prot

P02248, P02249, P02250, P14793, P62987, P62988, Q29120, Q6LBL4, Q6LDU5, Q8WYN8, Q91887, Q91888, Q9BWD6, Q9BX98, Q9UEF2, Q9UEG1, Q9UEK8, Q9UPK7

UniProtKB/TrEMBL

Q3MIH3

Related

ENSP00000470419.1, ENST00000595683.5

Conserved Domains (2) summary

cd01803
Location:1 → 76

Ubl_ubiquitin; ubiquitin-like (Ubl) domain found in ubiquitin

pfam01020
Location:79 → 126

Ribosomal_L40e; Ribosomal L40e family
NM_001321019.2 → NP_001307948.1 ubiquitin-ribosomal protein eL40 fusion protein isoform 1 precursor

Status: REVIEWED

Source sequence(s)

AC005253, AF545864, BG035502, BQ428515, BU677484, CD385706

Consensus CDS

CCDS12382.1

UniProtKB/Swiss-Prot

P02248, P02249, P02250, P14793, P62987, P62988, Q29120, Q6LBL4, Q6LDU5, Q8WYN8, Q91887, Q91888, Q9BWD6, Q9BX98, Q9UEF2, Q9UEG1, Q9UEK8, Q9UPK7

UniProtKB/TrEMBL

Q3MIH3

Related

ENSP00000471622.1, ENST00000595158.5

Conserved Domains (2) summary

cd01803
Location:1 → 76

Ubl_ubiquitin; ubiquitin-like (Ubl) domain found in ubiquitin

pfam01020
Location:79 → 126

Ribosomal_L40e; Ribosomal L40e family
NM_001321020.2 → NP_001307949.1 ubiquitin-ribosomal protein eL40 fusion protein isoform 1 precursor

Status: REVIEWED

Source sequence(s)

AC005253, AF545864, BE514609, BG035502, BQ428515, BU677484

Consensus CDS

CCDS12382.1

UniProtKB/Swiss-Prot

P02248, P02249, P02250, P14793, P62987, P62988, Q29120, Q6LBL4, Q6LDU5, Q8WYN8, Q91887, Q91888, Q9BWD6, Q9BX98, Q9UEF2, Q9UEG1, Q9UEK8, Q9UPK7

UniProtKB/TrEMBL

Q3MIH3

Related

ENSP00000472545.1, ENST00000598780.5

Conserved Domains (2) summary

cd01803
Location:1 → 76

Ubl_ubiquitin; ubiquitin-like (Ubl) domain found in ubiquitin

pfam01020
Location:79 → 126

Ribosomal_L40e; Ribosomal L40e family
NM_001321021.1 → NP_001307950.1 ubiquitin-ribosomal protein eL40 fusion protein isoform 2

Status: REVIEWED

Description

Transcript Variant: This variant (7) differs in the 5' UTR and initiates translation at an alternate start site, compared to variant 1. It encodes isoform 2, which has a longer N-terminus compared to isoform 1. This isoform (2) may undergo proteolytic processing similar to isoform 1.

Source sequence(s)

AC005253, AF545864, BG341101, BQ428515, BU677484

UniProtKB/TrEMBL

Q7Z4P3

Conserved Domains (2) summary

cd01803
Location:8 → 83

Ubl_ubiquitin; ubiquitin-like (Ubl) domain found in ubiquitin

pfam01020
Location:86 → 133

Ribosomal_L40e; Ribosomal L40e family
NM_001321022.2 → NP_001307951.1 ubiquitin-ribosomal protein eL40 fusion protein isoform 3

Status: REVIEWED

Source sequence(s)

AC005253, AF545864, BG341101, BQ428515, BU677484, HY153317

UniProtKB/TrEMBL

Q7Z4P3

Conserved Domains (2) summary

pfam01020
Location:50 → 97

Ribosomal_L40e; Ribosomal L40e family

cl28922
Location:1 → 47

Ubiquitin_like_fold; Beta-grasp ubiquitin-like fold
NM_003333.5 → NP_003324.1 ubiquitin-ribosomal protein eL40 fusion protein isoform 1 precursor

See identical proteins and their annotated locations for NP_003324.1

Status: REVIEWED

Source sequence(s)

AC005253, AF348700, AF545864, BQ428515, BQ428688, BU677484

Consensus CDS

CCDS12382.1

UniProtKB/Swiss-Prot

P02248, P02249, P02250, P14793, P62987, P62988, Q29120, Q6LBL4, Q6LDU5, Q8WYN8, Q91887, Q91888, Q9BWD6, Q9BX98, Q9UEF2, Q9UEG1, Q9UEK8, Q9UPK7

UniProtKB/TrEMBL

Q3MIH3

Related

ENSP00000396910.1, ENST00000430157.6

Conserved Domains (2) summary

cd01803
Location:1 → 76

Ubl_ubiquitin; ubiquitin-like (Ubl) domain found in ubiquitin

pfam01020
Location:79 → 126

Ribosomal_L40e; Ribosomal L40e family

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000019.10 Reference GRCh38.p14 Primary Assembly

Range

18563766..18577550

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_005260054.2 → XP_005260111.1 ubiquitin-ribosomal protein eL40 fusion protein isoform X2

See identical proteins and their annotated locations for XP_005260111.1

UniProtKB/TrEMBL

M0R2S1

Related

ENSP00000472768.1, ENST00000596272.5

Conserved Domains (3) summary

cd01803
Location:1 → 76

Ubiquitin; Ubiquitin

smart00213
Location:1 → 72

UBQ; Ubiquitin homologues

pfam01020
Location:78 → 154

Ribosomal_L40e; Ribosomal L40e family
XM_006722871.3 → XP_006722934.1 ubiquitin-ribosomal protein eL40 fusion protein isoform X2

See identical proteins and their annotated locations for XP_006722934.1

UniProtKB/TrEMBL

M0R2S1

Conserved Domains (3) summary

cd01803
Location:1 → 76

Ubiquitin; Ubiquitin

smart00213
Location:1 → 72

UBQ; Ubiquitin homologues

pfam01020
Location:78 → 154

Ribosomal_L40e; Ribosomal L40e family
XM_005260052.3 → XP_005260109.1 ubiquitin-ribosomal protein eL40 fusion protein isoform X2

See identical proteins and their annotated locations for XP_005260109.1

UniProtKB/TrEMBL

M0R2S1

Conserved Domains (3) summary

cd01803
Location:1 → 76

Ubiquitin; Ubiquitin

smart00213
Location:1 → 72

UBQ; Ubiquitin homologues

pfam01020
Location:78 → 154

Ribosomal_L40e; Ribosomal L40e family
XM_005260053.4 → XP_005260110.1 ubiquitin-ribosomal protein eL40 fusion protein isoform X2

See identical proteins and their annotated locations for XP_005260110.1

UniProtKB/TrEMBL

M0R2S1

Conserved Domains (3) summary

cd01803
Location:1 → 76

Ubiquitin; Ubiquitin

smart00213
Location:1 → 72

UBQ; Ubiquitin homologues

pfam01020
Location:78 → 154

Ribosomal_L40e; Ribosomal L40e family
XM_017027198.2 → XP_016882687.2 ubiquitin-ribosomal protein eL40 fusion protein isoform X1

UniProtKB/TrEMBL

M0R2S1

Alternate T2T-CHM13v2.0

Genomic

NC_060943.1 Alternate T2T-CHM13v2.0

Range

18698806..18712614

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054321937.1 → XP_054177912.1 ubiquitin-ribosomal protein eL40 fusion protein isoform X2

UniProtKB/TrEMBL

M0R2S1
XM_054321936.1 → XP_054177911.1 ubiquitin-ribosomal protein eL40 fusion protein isoform X2

UniProtKB/TrEMBL

M0R2S1
XM_054321933.1 → XP_054177908.1 ubiquitin-ribosomal protein eL40 fusion protein isoform X2

UniProtKB/TrEMBL

M0R2S1
XM_054321934.1 → XP_054177909.1 ubiquitin-ribosomal protein eL40 fusion protein isoform X2

UniProtKB/TrEMBL

M0R2S1
XM_054321932.1 → XP_054177907.1 ubiquitin-ribosomal protein eL40 fusion protein isoform X1

UniProtKB/TrEMBL

M0R2S1