UBL5 ubiquitin like 5 [Homo sapiens (human)] - Gene

Summary

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

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_000019.10 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?

Moonlighting functions of the ubiquitin-like protein, Hub1/UBL-5.
Title: Moonlighting functions of the ubiquitin-like protein, Hub1/UBL-5.
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.
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.
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.
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.
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.

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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

EBI GWAS Catalog

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

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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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 more info	PubMed
involved_in protein modification process	IBA Inferred from Biological aspect of Ancestor more info
involved_in protein modification process	IEA Inferred from Electronic Annotation 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)

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
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