uba-5 Ubiquitin-like modifier-activating enzyme 5 [Caenorhabditis elegans] - Gene

Summary

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Official Symbol: uba-5
Official Full Name: Ubiquitin-like modifier-activating enzyme 5
Primary source: WormBase:WBGene00020184
Locus tag: CELE_T03F1.1
See related: AllianceGenome:WB:WBGene00020184
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Caenorhabditis elegans (strain: Bristol N2)
Lineage: Eukaryota; Metazoa; Ecdysozoa; Nematoda; Chromadorea; Rhabditida; Rhabditina; Rhabditomorpha; Rhabditoidea; Rhabditidae; Peloderinae; Caenorhabditis
Summary: Enables UFM1 activating enzyme activity and ubiquitin conjugating enzyme binding activity. Involved in response to endoplasmic reticulum stress. Predicted to be active in cytosol. Used to study early infantile epileptic encephalopathy. Human ortholog(s) of this gene implicated in autosomal recessive spinocerebellar ataxia 24 and developmental and epileptic encephalopathy 44. Orthologous to human UBA5 (ubiquitin like modifier activating enzyme 5). [provided by Alliance of Genome Resources, Dec 2024]
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Genomic context

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See uba-5 in Genome Data Viewer

Location:: chromosome: I

Exon count:: 3

Sequence:: Chromosome: I; NC_003279.8 (3874365..3875995)

Chromosome I - NC_003279.8 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:: NC_003279.8

Go to nucleotide: Graphics FASTA GenBank

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

clinical, biochemical, and experimental findings support our finding of UBA5 mutations as a pathophysiological cause for early-onset encephalopathies due to abnormal protein ufmylation
Title: Biallelic Variants in UBA5 Reveal that Disruption of the UFM1 Cascade Can Result in Early-Onset Encephalopathy.

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Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

T03F1.1 (e-PCR)
- UniSTS:310633

Homology

Orthologs from OrthoDB

Gene Ontology Provided by WormBase

Function	Evidence Code	Pubs
enables ATP binding	IEA Inferred from Electronic Annotation more info
enables UFM1 activating enzyme activity	IBA Inferred from Biological aspect of Ancestor more info
enables UFM1 activating enzyme activity	IDA Inferred from Direct Assay more info	PubMed
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables ubiquitin conjugating enzyme binding	IPI Inferred from Physical Interaction more info	PubMed
enables ubiquitin-like modifier activating enzyme activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in protein ufmylation	IBA Inferred from Biological aspect of Ancestor more info
involved_in response to endoplasmic reticulum stress	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
is_active_in cytosol	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: Ubiquitin-like modifier-activating enzyme 5

NP_001370592.1

Confirmed by transcript evidence

NCBI Reference Sequences (RefSeq)

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Genome Annotation

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

Reference assembly

Genomic

NC_003279.8 Reference assembly

Range

3874365..3875995

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001384040.2 → NP_001370592.1 Ubiquitin-like modifier-activating enzyme 5 [Caenorhabditis elegans]

Status: REVIEWED

UniProtKB/Swiss-Prot

P91430

Conserved Domains (1) summary

cd00757
Location:63 → 307

ThiF_MoeB_HesA_family; ThiF_MoeB_HesA. Family of E1-like enzymes involved in molybdopterin and thiamine biosynthesis family. The common reaction mechanism catalyzed by MoeB and ThiF, like other E1 enzymes, begins with a nucleophilic attack of the C-terminal carboxylate of MoaD ...