Ddi1 DNA-damage inducible 1 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Ddi1provided by MGI
Official Full Name: DNA-damage inducible 1provided by MGI
Primary source: MGI:MGI:1919079
See related: Ensembl:ENSMUSG00000047619 AllianceGenome:MGI:1919079
Gene type: protein coding
RefSeq status: PROVISIONAL
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: 1700011N24Rik
Summary: Predicted to enable aspartic-type endopeptidase activity. Predicted to be involved in several processes, including cellular response to hydroxyurea; proteasomal protein catabolic process; and regulation of DNA stability. Predicted to act upstream of or within proteolysis. Is expressed in brain and future brain. Orthologous to human DDI1 (DNA damage inducible 1 homolog 1). [provided by Alliance of Genome Resources, Apr 2022]
Orthologs: human all
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Genomic context

Location:: 9 A1; 9 2.46 cM

Exon count:: 1

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	9	NC_000075.7 (6265028..6266547, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	9	NC_000075.6 (6265028..6266547, complement)

Chromosome 9 - NC_000075.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Normal spermatogenesis and fertility in Ddi1 (DNA damage inducible 1) mutant mice.
Title: Normal spermatogenesis and fertility in Ddi1 (DNA damage inducible 1) mutant mice.
The novel observation that DDI1 is expressed in the developing mice brain, with a significant peak at E16.5, strongly suggests that DDI1 has biological functions not yet described that could be of relevance for Angelman syndrome clinical research.
Title: Quantitative proteomics reveals neuronal ubiquitination of Rngo/Ddi1 and several proteasomal subunits by Ube3a, accounting for the complexity of Angelman syndrome.

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Variation

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Alleles

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

Endonuclease-mediated (3) 1 citation

General gene information

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Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables aspartic-type endopeptidase activity	IEA Inferred from Electronic Annotation more info
enables hydrolase activity	IEA Inferred from Electronic Annotation more info
enables peptidase activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in cellular response to hydroxyurea	ISO Inferred from Sequence Orthology more info
involved_in proteasomal protein catabolic process	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within proteolysis	IEA Inferred from Electronic Annotation more info
involved_in proteolysis	IEA Inferred from Electronic Annotation more info
involved_in regulation of DNA stability	ISO Inferred from Sequence Orthology more info
involved_in regulation of protein stability	ISO Inferred from Sequence Orthology more info

Component	Evidence Code	Pubs
is_active_in cellular_component	ND No biological Data available more info

General protein information

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Preferred Names: protein DDI1 homolog 1

Names: DDI1, DNA-damage inducible 1, homolog 1

NP_082218.1

EC 3.4.23.-

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_027942.1 → NP_082218.1 protein DDI1 homolog 1

See identical proteins and their annotated locations for NP_082218.1

Status: PROVISIONAL

Source sequence(s)

AK005882

Consensus CDS

CCDS40527.1

UniProtKB/Swiss-Prot

Q9DAF3

Related

ENSMUSP00000053223.5, ENSMUST00000051706.6

Conserved Domains (2) summary

cd05479
Location:235 → 357

RP_DDI; retropepsin-like domain of DNA damage inducible protein

cd01796
Location:1 → 76

Ubl_Ddi1_like; ubiquitin-like (Ubl) domain found in the eukaryotic Ddi1 family