Uba5 ubiquitin-like modifier activating enzyme 5 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Uba5provided by MGI
Official Full Name: ubiquitin-like modifier activating enzyme 5provided by MGI
Primary source: MGI:MGI:1913913
See related: Ensembl:ENSMUSG00000032557 AllianceGenome:MGI:1913913
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: Ube1dc1; 5730525G14Rik
Summary: Enables UFM1 activating enzyme activity. Involved in erythrocyte differentiation; megakaryocyte differentiation; and protein ufmylation. Predicted to be located in endoplasmic reticulum membrane. Predicted to be active in cytosol. Is expressed in liver. 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]
Expression: Ubiquitous expression in placenta adult (RPKM 20.3), CNS E18 (RPKM 19.8) and 28 other tissues See more
Orthologs: human all
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Genomic context

Location:: 9 F1; 9 56.28 cM

Exon count:: 12

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	9	NC_000075.7 (103923786..103940767, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	9	NC_000075.6 (104046587..104063176, complement)

Chromosome 9 - NC_000075.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

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Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

A description of novel variants and review of phenotypic spectrum in UBA5-related early epileptic encephalopathy.
Title: A description of novel variants and review of phenotypic spectrum in UBA5-related early epileptic encephalopathy.
The Ufm1-activating enzyme Uba5 is indispensable for erythroid differentiation in mice.
Title: The Ufm1-activating enzyme Uba5 is indispensable for erythroid differentiation in mice.

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Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Targeted (1) 1 citation
Endonuclease-mediated (2)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by MGI

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 UFM1 activating enzyme activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables UFM1 activating enzyme activity	ISO Inferred from Sequence Orthology more info
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables nucleotide binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein homodimerization activity	ISO Inferred from Sequence Orthology more info
enables ubiquitin-like modifier activating enzyme activity	IEA Inferred from Electronic Annotation more info
enables zinc ion binding	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
involved_in erythrocyte differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in localization	ISO Inferred from Sequence Orthology more info
involved_in megakaryocyte differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in neuromuscular process	ISO Inferred from Sequence Orthology more info
involved_in protein K69-linked ufmylation	ISO Inferred from Sequence Orthology more info
involved_in protein ufmylation	IBA Inferred from Biological aspect of Ancestor more info
involved_in protein ufmylation	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within protein ufmylation	ISO Inferred from Sequence Orthology more info	PubMed
involved_in protein ufmylation	ISO Inferred from Sequence Orthology more info
involved_in regulation of intracellular estrogen receptor signaling pathway	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within response to endoplasmic reticulum stress	ISO Inferred from Sequence Orthology more info	PubMed
involved_in response to endoplasmic reticulum stress	ISO Inferred from Sequence Orthology more info
involved_in reticulophagy	ISO Inferred from Sequence Orthology 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
located_in cytoplasm	ISO Inferred from Sequence Orthology more info
located_in cytoplasm	ISS Inferred from Sequence or Structural Similarity more info	PubMed
is_active_in cytosol	IBA Inferred from Biological aspect of Ancestor more info
located_in cytosol	ISO Inferred from Sequence Orthology more info
located_in endoplasmic reticulum	IEA Inferred from Electronic Annotation more info
located_in endoplasmic reticulum membrane	ISO Inferred from Sequence Orthology more info
located_in intracellular membrane-bounded organelle	ISO Inferred from Sequence Orthology more info
located_in membrane	IEA Inferred from Electronic Annotation more info
located_in nucleus	IEA Inferred from Electronic Annotation 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 protein 1; 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_025692.3 → NP_079968.2 ubiquitin-like modifier-activating enzyme 5

See identical proteins and their annotated locations for NP_079968.2

Status: VALIDATED

Source sequence(s)

AK011151, AK077825, AK168907, BB726528, BY768723

Consensus CDS

CCDS23457.1

UniProtKB/Swiss-Prot

Q3TG27, Q3U8X9, Q3U9E7, Q8VE47, Q9CYD6

Related

ENSMUSP00000035166.6, ENSMUST00000035166.12

Conserved Domains (1) summary

cd00757
Location:50 → 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 ...

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

Reference GRCm39 C57BL/6J

Genomic

NC_000075.7 Reference GRCm39 C57BL/6J

Range

103923786..103940767 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006511791.4 → XP_006511854.1 ubiquitin-like modifier-activating enzyme 5 isoform X1

Conserved Domains (1) summary

cl22428
Location:1 → 183

E1_enzyme_family; Superfamily of activating enzymes (E1) of the ubiquitin-like proteins. This family includes classical ubiquitin-activating enzymes E1, ubiquitin-like (ubl) activating enzymes and other mechanistic homologes, like MoeB, Thif1 and others. The common ...