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    UBL5 ubiquitin like 5 [ Homo sapiens (human) ]

    Gene ID: 59286, updated on 2-Nov-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
    mouse all
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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_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (9827918..9830115)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (9953519..9956279)
    RS_2024_09 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 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. Moonlighting functions of the ubiquitin-like protein, Hub1/UBL-5. Kolathur KK, et al. Int J Biochem Cell Biol, 2023 Sep. PMID 37453225
    2. Genetic variation in BEACON influences quantitative variation in metabolic syndrome-related phenotypes. Jowett JB, et al. Diabetes, 2004 Sep. PMID 15331561
    3. Association of genetic variation within UBL5 with phenotypes of metabolic syndrome. Bozaoglu K, et al. Hum Biol, 2006 Apr. PMID 17036923
    4. 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
    5. 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

    See all (47) 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_2024_08

    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
    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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