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tor1 torsin family 1 [ Danio rerio (zebrafish) ]

Gene ID: 565062, updated on 2-Nov-2024

Summary

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Official Symbol
tor1provided by ZNC
Official Full Name
torsin family 1provided by ZNC
Primary source
ZFIN:ZDB-GENE-080917-50
See related
Ensembl:ENSDARG00000077950 AllianceGenome:ZFIN:ZDB-GENE-080917-50
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Danio rerio
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Actinopterygii; Neopterygii; Teleostei; Ostariophysi; Cypriniformes; Danionidae; Danioninae; Danio
Also known as
im:7165310; si:ch73-178d14.1
Summary
Predicted to enable kinesin binding activity. Predicted to be involved in nuclear membrane organization and protein localization to nucleus. Located in cytosol and nuclear envelope. Is expressed in gonad; gut; muscle; and nervous system. Human ortholog(s) of this gene implicated in arthrogryposis multiplex congenita-5 and torsion dystonia 1. Orthologous to several human genes including TOR1B (torsin family 1 member B). [provided by Alliance of Genome Resources, Nov 2024]
Orthologs
all
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Genomic context

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See tor1 in Genome Data Viewer
Location:
chromosome: 21
Exon count:
6
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCz11 (GCF_000002035.6) 21 NC_007132.7 (3775531..3787325)
105 previous assembly GRCz10 (GCF_000002035.5) 21 NC_007132.6 (3624110..3635904)

Chromosome 21 - NC_007132.7Genomic Context describing neighboring genes Neighboring gene ATPase phospholipid transporting 8B1 Neighboring gene secretory carrier membrane protein 1 Neighboring gene NSA2 ribosome biogenesis homolog (S. cerevisiae) Neighboring gene SPOUT domain containing methyltransferase 1

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: Sequencing the Zebrafish transcriptome from a range of tissues and developmental stages
  • Description: Sequencing the Zebrafish transcriptome from a range of tissues and developmental stages
  • BioProject: PRJEB1986
  • Analysis date: Fri Dec 8 19:48:10 2017

Bibliography

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Related articles in PubMed

  1. The zebrafish homologue of the human DYT1 dystonia gene is widely expressed in CNS neurons but non-essential for early motor system development. Sager JJ, et al. PLoS One, 2012. PMID 23028827, Free PMC Article
  2. RFX transcription factors are essential for hearing in mice. Elkon R, et al. Nat Commun, 2015 Oct 15. PMID 26469318, Free PMC Article
  3. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. Strausberg RL, et al. Proc Natl Acad Sci U S A, 2002 Dec 24. PMID 12477932, Free PMC Article
  4. Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. Gaudet P, et al. Brief Bioinform, 2011 Sep. PMID 21873635, Free PMC Article
  5. Gene evolution and gene expression after whole genome duplication in fish: the PhyloFish database. Pasquier J, et al. BMC Genomics, 2016 May 18. PMID 27189481, Free PMC Article

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. The zebrafish homologue of the human DYT1 dystonia gene is widely expressed in CNS neurons but non-essential for early motor system development.
    Title: The zebrafish homologue of the human DYT1 dystonia gene is widely expressed in CNS neurons but non-essential for early motor system development.
Submit: New GeneRIF Correction

General gene information

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Markers

Homology

Gene Ontology Provided by ZFIN

Function Evidence Code Pubs
enables ATP binding IEA
Inferred from Electronic Annotation
more info
  
enables ATP hydrolysis activity IEA
Inferred from Electronic Annotation
more info
  
enables hydrolase activity IEA
Inferred from Electronic Annotation
more info
  
enables kinesin binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables nucleotide binding IEA
Inferred from Electronic Annotation
more info
  
Process Evidence Code Pubs
acts_upstream_of_or_within chaperone cofactor-dependent protein refolding IEA
Inferred from Electronic Annotation
more info
  
involved_in chaperone cofactor-dependent protein refolding IEA
Inferred from Electronic Annotation
more info
  
involved_in nuclear membrane organization IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in protein localization to nucleus IBA
Inferred from Biological aspect of Ancestor
more info
  
Component Evidence Code Pubs
located_in cell projection IEA
Inferred from Electronic Annotation
more info
  
located_in cytoplasmic vesicle membrane IEA
Inferred from Electronic Annotation
more info
  
located_in cytosol IDA
Inferred from Direct Assay
more info
 PubMed 
located_in endoplasmic reticulum IEA
Inferred from Electronic Annotation
more info
  
is_active_in endoplasmic reticulum lumen IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in growth cone IEA
Inferred from Electronic Annotation
more info
  
located_in membrane IEA
Inferred from Electronic Annotation
more info
  
is_active_in nuclear envelope IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in nuclear envelope IDA
Inferred from Direct Assay
more info
 PubMed 
located_in nucleus IEA
Inferred from Electronic Annotation
more info
  

General protein information

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Preferred Names
torsin family 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)

  1. NM_001200015.1 → NP_001186944.1  torsin family 1 precursor

    Status: VALIDATED

    Source sequence(s)
    CU694530, DY572024, EH570953, EH571944
    UniProtKB/TrEMBL
    A0A8M1NXL2, E9QG29
    Related
    ENSDARP00000103594.3, ENSDART00000111699.5
    Conserved Domains (1) summary
    cl21455
    Location:50 → 175
    P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases

RefSeqs of Annotated Genomes: GCF_000002035.6-RS_2024_08

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

Reference GRCz11 Primary Assembly

Genomic

  1. NC_007132.7 Reference GRCz11 Primary Assembly

    Range
    3775531..3787325
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005161523.2 → XP_005161580.1  torsin family 1 isoform X1

    UniProtKB/TrEMBL
    A0A8M2B8C5, E9QHA7
    Related
    ENSDARP00000122316.1, ENSDART00000139813.2
    Conserved Domains (1) summary
    cl21455
    Location:50 → 175
    P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases
Nucleotide Protein Strain
Heading Accession and Version

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