Ufl1 UFM1 specific ligase 1 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Ufl1provided by MGI
Official Full Name: UFM1 specific ligase 1provided by MGI
Primary source: MGI:MGI:1914740
See related: Ensembl:ENSMUSG00000040359 AllianceGenome:MGI:1914740
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: Rcad; Maxer; Kiaa0776; mKIAA0776; 1810074P20Rik
Summary: Predicted to enable UFM1 ligase activity and protein kinase binding activity. Involved in hemopoiesis; positive regulation of autophagy; and response to endoplasmic reticulum stress. Acts upstream of or within positive regulation of glial cell proliferation; regulation of gene expression; and response to L-glutamate. Located in cytoplasm and neuron projection. Is expressed in cerebellum; cerebral cortex; and liver. Orthologous to human UFL1 (UFM1 specific ligase 1). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Ubiquitous expression in limb E14.5 (RPKM 3.4), CNS E11.5 (RPKM 3.3) and 28 other tissues See more
Orthologs: human all
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Genomic context

Location:: 4 A3; 4 10.59 cM

Exon count:: 19

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	4	NC_000070.7 (25247149..25281821, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	4	NC_000070.6 (25247149..25281821, complement)

Chromosome 4 - NC_000070.7 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: 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?

UFL1 ablation in T cells suppresses PD-1 UFMylation to enhance anti-tumor immunity.
Title: UFL1 ablation in T cells suppresses PD-1 UFMylation to enhance anti-tumor immunity.
Loss of Ufl1/Ufbp1 in hepatocytes promotes liver pathological damage and carcinogenesis through activating mTOR signaling.
Title: Loss of Ufl1/Ufbp1 in hepatocytes promotes liver pathological damage and carcinogenesis through activating mTOR signaling.
Ufl1 deficiency causes kidney atrophy associated with disruption of endoplasmic reticulum homeostasis.
Title: Ufl1 deficiency causes kidney atrophy associated with disruption of endoplasmic reticulum homeostasis.
UFM1-Specific Ligase 1 Ligating Enzyme 1 Mediates Milk Protein and Fat Synthesis-Related Gene Expression via the JNK Signaling Pathway in Mouse Mammary Epithelial Cells.
Title: UFM1-Specific Ligase 1 Ligating Enzyme 1 Mediates Milk Protein and Fat Synthesis-Related Gene Expression via the JNK Signaling Pathway in Mouse Mammary Epithelial Cells.
a crucial role of CDK5RAP3 in liver development and hepatic functions, is reported.
Title: CDK5RAP3, a UFL1 substrate adaptor, is crucial for liver development.
RCAD/BiP pathway is required for the proper synthesis and secretion of amylase from pancreatic acini, as well as for the maintenance of the ER homeostasis.
Title: RCAD/BiP pathway is necessary for the proper synthesis of digestive enzymes and secretory function of the exocrine pancreas.
Results identify a novel molecule named multiple alpha-helix protein located at ER (Maxer) downregulated by mutant ataxin-1 (Atx1) in Bergmann glia.
Title: Suppression of the novel ER protein Maxer by mutant ataxin-1 in Bergman glia contributes to non-cell-autonomous toxicity.

Submit: New GeneRIF Correction

Variation

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Alleles

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

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

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

1810074P20Rik (e-PCR), detects polymorphism
- UniSTS:527222

NoName (e-PCR)
- UniSTS:234879

NoName (e-PCR)
- UniSTS:234881

AW551583 (e-PCR)
- UniSTS:207602

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables UFM1 ligase activity	ISO Inferred from Sequence Orthology more info
enables UFM1 transferase activity	IBA Inferred from Biological aspect of Ancestor more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein kinase binding	ISO Inferred from Sequence Orthology more info
enables transferase activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in DNA damage checkpoint signaling	ISO Inferred from Sequence Orthology more info
involved_in DNA damage response	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within DNA repair	IEA Inferred from Electronic Annotation more info
involved_in erythrocyte differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in hematopoietic stem cell differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of IRE1-mediated unfolded protein response	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of NF-kappaB transcription factor activity	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of apoptotic process	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of protein ubiquitination	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of autophagy	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within positive regulation of cell population proliferation	ISO Inferred from Sequence Orthology more info	PubMed
acts_upstream_of_or_within positive regulation of glial cell proliferation	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within positive regulation of glial cell proliferation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of protein binding	TAS Traceable Author Statement more info	PubMed
involved_in protein K69-linked ufmylation	IBA Inferred from Biological aspect of Ancestor more info
involved_in protein K69-linked ufmylation	ISO Inferred from Sequence Orthology more info
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
acts_upstream_of_or_within regulation of gene expression	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of intracellular estrogen receptor signaling pathway	ISO Inferred from Sequence Orthology more info
involved_in regulation of proteasomal ubiquitin-dependent protein catabolic process	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within regulation of proteasomal ubiquitin-dependent protein catabolic process	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within regulation of protein localization	ISO Inferred from Sequence Orthology more info	PubMed
acts_upstream_of_or_within response to L-glutamate	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in response to endoplasmic reticulum stress	IBA Inferred from Biological aspect of Ancestor more info
involved_in response to endoplasmic reticulum stress	IMP Inferred from Mutant Phenotype more info	PubMed
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 chromosome	IEA Inferred from Electronic Annotation more info
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in cytoplasm	ISO Inferred from Sequence Orthology more info
located_in endoplasmic reticulum	ISO Inferred from Sequence Orthology more info	PubMed
is_active_in endoplasmic reticulum membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in endoplasmic reticulum membrane	ISO Inferred from Sequence Orthology more info	PubMed
located_in membrane	IEA Inferred from Electronic Annotation more info
is_active_in mitochondrial outer membrane	ISO Inferred from Sequence Orthology more info
located_in neuron projection	IDA Inferred from Direct Assay more info	PubMed
located_in nucleus	ISO Inferred from Sequence Orthology more info
part_of protein-containing complex	ISO Inferred from Sequence Orthology more info	PubMed
located_in site of double-strand break	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: E3 UFM1-protein ligase 1

Names: E3 UFM1-protein transferase 1; multiple alpha-helix protein located at ER; regulator of C53/LZAP and DDRGK1

NP_001342441.1

EC 2.3.2.-

NP_080470.2

EC 2.3.2.-

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.