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UBL5 ubiquitin like 5 [ Homo sapiens (human) ]

Gene ID: 59286, updated on 6-Jun-2024

Summary

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Official Symbol
UBL5provided by HGNC
Official Full Name
ubiquitin like 5provided by HGNC
Primary source
HGNC:HGNC:13736
See related
Ensembl:ENSG00000198258 MIM:606849; AllianceGenome:HGNC:13736
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
HUB1
Summary
This gene encodes a member of a group of proteins similar to ubiquitin. The encoded protein is not thought to degrade proteins like ubiquitin but to affect their function through being bound to target proteins by an isopeptide bond. The gene product has been studied as a link to predisposition to obesity based on its expression in Psammomys obesus, the fat sand rat, which is an animal model for obesity studies. Variation in this gene was found to be significantly associated with some metabolic traits (PMID: 15331561) but not associated with childhood obesity (PMID: 19189687). Pseudogenes of this gene are located on chromosomes 3, 5 and 17. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Jan 2013]
Expression
Ubiquitous expression in kidney (RPKM 86.7), adrenal (RPKM 83.4) and 25 other tissues See more
Orthologs
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Genomic context

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See UBL5 in Genome Data Viewer
Location:
19p13.2
Exon count:
5
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (9827918..9830115)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (9953519..9956279)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (9938594..9940791)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene small nucleolar RNA SNORA70 Neighboring gene ribosomal protein L10 pseudogene 15 Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:9938176-9938900 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10047 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10048 Neighboring gene PIN1 divergent transcript Neighboring gene peptidylprolyl cis/trans isomerase, NIMA-interacting 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:9958151-9958702 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:9958703-9959252

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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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Related articles in PubMed

  1. Identification of sequence variants in the UBL5 (ubiquitin-like 5 or BEACON) gene in obese children by PCR-SSCP: no evidence for association with obesity. Sentinelli F, et al. J Pediatr Endocrinol Metab, 2008 Dec. PMID 19189687
  2. Beacon-like/ubiquitin-5-like immunoreactivity is highly expressed in human hypothalamus and increased in haloperidol-treated schizophrenics and a rat model of schizophrenia. Bernstein HG, et al. Psychoneuroendocrinology, 2008 Apr. PMID 18191906
  3. Association of genetic variation within UBL5 with phenotypes of metabolic syndrome. Bozaoglu K, et al. Hum Biol, 2006 Apr. PMID 17036923
  4. Genetic variation in BEACON influences quantitative variation in metabolic syndrome-related phenotypes. Jowett JB, et al. Diabetes, 2004 Sep. PMID 15331561
  5. UBL5 is essential for pre-mRNA splicing and sister chromatid cohesion in human cells. Oka Y, et al. EMBO Rep, 2014 Sep. PMID 25092792, Free PMC Article

See all (45) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Moonlighting functions of the ubiquitin-like protein, Hub1/UBL-5.
    Title: Moonlighting functions of the ubiquitin-like protein, Hub1/UBL-5.
  2. Findings establish UBL5 as a factor that promotes the functionality of the FA DNA repair pathway.
    Title: Ubiquitin-like protein UBL5 promotes the functional integrity of the Fanconi anemia pathway.
  3. our results show that UBL5 plays an evolutionary conserved role in pre-mRNA splicing, the integrity of which is essential for the fidelity of chromosome segregation.
    Title: UBL5 is essential for pre-mRNA splicing and sister chromatid cohesion in human cells.
  4. Results suggest that UBL5 could be targeted to Cajal bodies (CBs) via its interaction with coilin.
    Title: Human UBL5 protein interacts with coilin and meets the Cajal bodies.
  5. The UBL5 gene is unlikely to play a major role in the genetic susceptibility to early-onset obesity.
    Title: Identification of sequence variants in the UBL5 (ubiquitin-like 5 or BEACON) gene in obese children by PCR-SSCP: no evidence for association with obesity.
  6. Observational study of gene-disease association. (HuGE Navigator)
    Title: Identification of sequence variants in the UBL5 (ubiquitin-like 5 or BEACON) gene in obese children by PCR-SSCP: no evidence for association with obesity.
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

EBI GWAS Catalog

Description
Genome-wide association analyses suggest NELL1 influences adverse metabolic response to HCTZ in African Americans.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ46917, MGC131795

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
  
Process Evidence Code Pubs
involved_in mRNA splicing, via spliceosome IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in positive regulation of protein targeting to mitochondrion HMP PubMed 
involved_in protein modification process IBA
Inferred from Biological aspect of Ancestor
more info
  
Component Evidence Code Pubs
located_in Cajal body IEA
Inferred from Electronic Annotation
more info
  
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in cytoplasm IDA
Inferred from Direct Assay
more info
 PubMed 
located_in nucleoplasm TAS
Traceable Author Statement
more info
  
is_active_in nucleus IBA
Inferred from Biological aspect of Ancestor
more info
  

General protein information

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Preferred Names
ubiquitin-like protein 5
Names
beacon
testicular tissue protein Li 217

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)

  1. NM_001048241.3 → NP_001041706.1  ubiquitin-like protein 5

    See identical proteins and their annotated locations for NP_001041706.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Both variants 1 and 2 encode the same protein.
    Source sequence(s)
    BC110839, BP213482, CA418471
    Consensus CDS
    CCDS12219.1
    UniProtKB/Swiss-Prot
    Q2NL89, Q9BZL1
    UniProtKB/TrEMBL
    A0A024R7B0, B2R4N3
    Related
    ENSP00000468656.1, ENST00000586895.6
    Conserved Domains (1) summary
    cd01791
    Location:1 → 71
    Ubl_UBL5; ubiquitin-like (Ubl) domain found in ubiquitin-like protein 5 (UBL5) and similar proteins

  2. NM_024292.4 → NP_077268.1  ubiquitin-like protein 5

    See identical proteins and their annotated locations for NP_077268.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longer transcript. Both variants 1 and 2 encode the same protein.
    Source sequence(s)
    AK128885, BC007053, CA418471
    Consensus CDS
    CCDS12219.1
    UniProtKB/Swiss-Prot
    Q2NL89, Q9BZL1
    UniProtKB/TrEMBL
    A0A024R7B0, B2R4N3
    Related
    ENSP00000351492.2, ENST00000358666.7
    Conserved Domains (1) summary
    cd01791
    Location:1 → 71
    Ubl_UBL5; ubiquitin-like (Ubl) domain found in ubiquitin-like protein 5 (UBL5) and similar proteins

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000019.10 Reference GRCh38.p14 Primary Assembly

    Range
    9827918..9830115
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060943.1 Alternate T2T-CHM13v2.0

    Range
    9953519..9956279
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054321656.1 → XP_054177631.1  ubiquitin-like protein 5 isoform X1

    UniProtKB/Swiss-Prot
    Q2NL89, Q9BZL1
    UniProtKB/TrEMBL
    A0A024R7B0, B2R4N3
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9BZL1.1 GenPept UniProtKB/Swiss-Prot:Q9BZL1

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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