Dbr1 debranching RNA lariats 1 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Dbr1provided by MGI
Official Full Name: debranching RNA lariats 1provided by MGI
Primary source: MGI:MGI:1931520
See related: Ensembl:ENSMUSG00000032469 AllianceGenome:MGI:1931520
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
Summary: Enables RNA lariat debranching enzyme activity. Acts upstream of or within mRNA splicing, via spliceosome. Predicted to be located in nucleoplasm. Predicted to be active in nucleus. Is expressed in several structures, including alimentary system; central nervous system; early conceptus; genitourinary system; and skin. Human ortholog(s) of this gene implicated in brain disease. Orthologous to human DBR1 (debranching RNA lariats 1). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Ubiquitous expression in CNS E11.5 (RPKM 8.4), liver E14 (RPKM 7.1) and 28 other tissues See more
Orthologs: human all
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Genomic context

Location:: 9 E3.3; 9 51.86 cM

Exon count:: 8

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	9	NC_000075.7 (99457839..99467060)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	9	NC_000075.6 (99575786..99585007)

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

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?

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Variation

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Alleles

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

Gene trapped (2)
Targeted (2)
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 RNA lariat debranching enzyme activity	IBA Inferred from Biological aspect of Ancestor more info
enables RNA lariat debranching enzyme activity	IDA Inferred from Direct Assay more info	PubMed
enables RNA lariat debranching enzyme activity	ISO Inferred from Sequence Orthology more info
enables hydrolase activity	IEA Inferred from Electronic Annotation more info
enables hydrolase activity, acting on ester bonds	IEA Inferred from Electronic Annotation more info
enables metal ion binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in RNA fragment catabolic process	ISO Inferred from Sequence Orthology more info
involved_in RNA splicing, via transesterification reactions	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within mRNA processing	IEA Inferred from Electronic Annotation more info
involved_in mRNA processing	IEA Inferred from Electronic Annotation more info
involved_in mRNA splicing, via spliceosome	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within mRNA splicing, via spliceosome	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
located_in nucleoplasm	ISO Inferred from Sequence Orthology more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleus	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: lariat debranching enzyme

Names: debranching enzyme homolog 1

NP_001355227.1

EC 3.1.4.-

NP_113580.2

EC 3.1.4.-

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_001368298.1 → NP_001355227.1 lariat debranching enzyme isoform 2

Status: VALIDATED

Source sequence(s)

AC156497
NM_031403.3 → NP_113580.2 lariat debranching enzyme isoform 1

See identical proteins and their annotated locations for NP_113580.2

Status: VALIDATED

Source sequence(s)

AK050090

Consensus CDS

CCDS23435.1

UniProtKB/Swiss-Prot

Q8C1T9, Q8C7J7, Q923B1, Q99MT1

Related

ENSMUSP00000070991.6, ENSMUST00000066650.12

Conserved Domains (3) summary

cd00844
Location:3 → 264

MPP_Dbr1_N; Dbr1 RNA lariat debranching enzyme, N-terminal metallophosphatase domain

pfam00149
Location:1 → 229

Metallophos; Calcineurin-like phosphoesterase

pfam05011
Location:246 → 377

DBR1; Lariat debranching enzyme, C-terminal domain