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Tor3a torsin family 3, member A [ Mus musculus (house mouse) ]

Gene ID: 30935, updated on 5-Mar-2024

Summary

Official Symbol
Tor3aprovided by MGI
Official Full Name
torsin family 3, member Aprovided by MGI
Primary source
MGI:MGI:1353652
See related
Ensembl:ENSMUSG00000060519 AllianceGenome:MGI:1353652
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
Adir
Summary
Predicted to enable ATP binding activity. Located in endoplasmic reticulum lumen. Is expressed in lateral ventricle choroid plexus and pancreas tip epithelium. Orthologous to human TOR3A (torsin family 3 member A). [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in lung adult (RPKM 14.2), colon adult (RPKM 10.8) and 27 other tissues See more
Orthologs
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Genomic context

Location:
1 G3; 1 67.71 cM
Exon count:
6
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) 1 NC_000067.7 (156481187..156501909, complement)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 1 NC_000067.6 (156653617..156674339, complement)

Chromosome 1 - NC_000067.7Genomic Context describing neighboring genes Neighboring gene ribosomal protein 10 pseudogene Neighboring gene STARR-seq mESC enhancer starr_02742 Neighboring gene ABL proto-oncogene 2, non-receptor tyrosine kinase Neighboring gene STARR-positive B cell enhancer ABC_E10049 Neighboring gene STARR-positive B cell enhancer ABC_E4362 Neighboring gene STARR-seq mESC enhancer starr_02753 Neighboring gene STARR-positive B cell enhancer ABC_E4363 Neighboring gene STARR-seq mESC enhancer starr_02755 Neighboring gene FAM20B, glycosaminoglycan xylosylkinase Neighboring gene CapStarr-seq enhancer MGSCv37_chr1:158640993-158641176 Neighboring gene STARR-positive B cell enhancer mm9_chr1:158682524-158682825 Neighboring gene predicted gene, 39683

Genomic regions, transcripts, and products

Expression

  • 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

Variation

Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)
  • Targeted (1) 
  • Endonuclease-mediated (2) 

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables ATP binding IEA
Inferred from Electronic Annotation
more info
 
enables ATP hydrolysis activity ISO
Inferred from Sequence Orthology
more info
 
enables nucleotide binding IEA
Inferred from Electronic Annotation
more info
 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Component Evidence Code Pubs
located_in cytoplasm IEA
Inferred from Electronic Annotation
more info
 
located_in endoplasmic reticulum ISO
Inferred from Sequence Orthology
more info
 
is_active_in endoplasmic reticulum lumen IBA
Inferred from Biological aspect of Ancestor
more info
 
located_in endoplasmic reticulum lumen IDA
Inferred from Direct Assay
more info
PubMed 
located_in endoplasmic reticulum lumen ISO
Inferred from Sequence Orthology
more info
PubMed 
is_active_in nuclear envelope IBA
Inferred from Biological aspect of Ancestor
more info
 

General protein information

Preferred Names
torsin-3A
Names
ATP-dependant interferon responsive
ATP-dependent interferon-responsive protein

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)

  1. NM_023141.2NP_075630.2  torsin-3A precursor

    See identical proteins and their annotated locations for NP_075630.2

    Status: VALIDATED

    Source sequence(s)
    AC145078, AK009693
    Consensus CDS
    CCDS15394.1
    UniProtKB/Swiss-Prot
    Q3T9Q6, Q3TDA9, Q3U5X1, Q3U8F2, Q9CR17, Q9CU67, Q9ER38
    Related
    ENSMUSP00000078572.5, ENSMUST00000079625.11
    Conserved Domains (1) summary
    pfam06309
    Location:93222
    Torsin; Torsin

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

  1. NC_000067.7 Reference GRCm39 C57BL/6J

    Range
    156481187..156501909 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)