uba5 ubiquitin-like modifier activating enzyme 5 [Danio rerio (zebrafish)] - Gene

Summary

Official Symbol: uba5provided by ZNC
Official Full Name: ubiquitin-like modifier activating enzyme 5provided by ZNC
Primary source: ZFIN:ZDB-GENE-031112-2
See related: Ensembl:ENSDARG00000063588 AllianceGenome:ZFIN:ZDB-GENE-031112-2
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Danio rerio
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Actinopterygii; Neopterygii; Teleostei; Ostariophysi; Cypriniformes; Danionidae; Danioninae; Danio
Also known as: cb972; ube1dc1
Summary: Predicted to enable UFM1 activating enzyme activity; protein homodimerization activity; and zinc ion binding activity. Involved in locomotion. Acts upstream of or within locomotory behavior. Predicted to be located in endoplasmic reticulum membrane. Predicted to be active in cytosol. Is expressed in several structures, including fin; hatching gland; hindbrain; notochord; and polster. 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, Apr 2022]
Orthologs: human mouse all
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Genomic context

Location:: chromosome: 24

Exon count:: 12

Annotation release	Status	Assembly	Chr	Location
106	current	GRCz11 (GCF_000002035.6)	24	NC_007135.7 (9673227..9689915, complement)
105	previous assembly	GRCz10 (GCF_000002035.5)	24	NC_007135.6 (9532841..9549529, complement)

Chromosome 24 - NC_007135.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Sequencing the Zebrafish transcriptome from a range of tissues and developmental stages
Description: Sequencing the Zebrafish transcriptome from a range of tissues and developmental stages
BioProject: PRJEB1986
Analysis date: Fri Dec 8 19:48:10 2017

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.

Submit: New GeneRIF Correction

General gene information

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Markers

fi77e12.y1 (e-PCR)
- UniSTS:198035

fk20h10.y1 (e-PCR)
- UniSTS:200648

Gene Ontology Provided by ZFIN

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 metal ion binding	IEA Inferred from Electronic Annotation more info
enables nucleotide binding	IEA Inferred from Electronic Annotation more info
enables ubiquitin-like modifier activating enzyme activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
acts_upstream_of_or_within locomotory behavior	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in protein ufmylation	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
located_in Golgi apparatus	IEA Inferred from Electronic Annotation more info
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

Names: UFM1-activating enzyme; ubiquitin-activating enzyme 5; ubiquitin-activating enzyme E1-domain containing 1

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_001305617.1 → NP_001292546.1 ubiquitin-like modifier-activating enzyme 5

Status: VALIDATED

Source sequence(s)

CR381660, EH491916, EH493276

UniProtKB/Swiss-Prot

X1WER2

UniProtKB/TrEMBL

A0A2R8QGC0, A0A8M1P6X7

Related

ENSDARP00000152958.1, ENSDART00000185972.1

Conserved Domains (2) summary

cd00757
Location:48 → 293

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 ...

pfam00899
Location:49 → 300

ThiF; ThiF family