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    Btbd9 BTB domain containing 9 [ Mus musculus (house mouse) ]

    Gene ID: 224671, updated on 5-Mar-2024

    Summary

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    Official Symbol
    Btbd9provided by MGI
    Official Full Name
    BTB domain containing 9provided by MGI
    Primary source
    MGI:MGI:1916625
    See related
    Ensembl:ENSMUSG00000062202 AllianceGenome:MGI:1916625
    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
    4930402L05; 1700023F20Rik
    Summary
    Acts upstream of or within several processes, including circadian sleep/wake cycle, non-REM sleep; long-term memory; and multicellular organismal iron ion homeostasis. Is expressed in several structures, including early conceptus; genitourinary system; liver; retina nuclear layer; and telencephalon. Used to study restless legs syndrome. Orthologous to human BTBD9 (BTB domain containing 9). [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Ubiquitous expression in testis adult (RPKM 5.8), whole brain E14.5 (RPKM 4.8) and 28 other tissues See more
    Orthologs
    human all
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    Genomic context

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    Location:
    17 A3.3; 17 15.62 cM
    Exon count:
    16
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 17 NC_000083.7 (30434498..30801595, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 17 NC_000083.6 (30215524..30582621, complement)

    Chromosome 17 - NC_000083.7Genomic Context describing neighboring genes Neighboring gene zinc finger, AN1-type domain 3 Neighboring gene predicted gene, 53994 Neighboring gene tubulin alpha, related sequence 1 Neighboring gene STARR-seq mESC enhancer starr_42304 Neighboring gene predicted gene, 25049 Neighboring gene ribosomal protein S17 pseudogene Neighboring gene VISTA enhancer mm1326 Neighboring gene STARR-positive B cell enhancer ABC_E2480 Neighboring gene RIKEN cDNA 1700097N02 gene Neighboring gene STARR-positive B cell enhancer ABC_E8666 Neighboring gene 40S ribosomal protein S13 pseudogene Neighboring gene glyoxalase 1

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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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    Related articles in PubMed

    1. Further Studies on the Role of BTBD9 in the Cerebellum, Sleep-like Behaviors and the Restless Legs Syndrome. Lyu S, et al. Neuroscience, 2022 Nov 21. PMID 36244636, Free PMC Article
    2. The Role of BTBD9 in the Cerebellum, Sleep-like Behaviors and the Restless Legs Syndrome. Lyu S, et al. Neuroscience, 2020 Aug 1. PMID 32446853, Free PMC Article
    3. Rotigotine suppresses sleep-related muscle activity augmented by injection of dialysis patients' sera in a mouse model of restless legs syndrome. Muramatsu K, et al. Sci Rep, 2019 Nov 8. PMID 31704978, Free PMC Article
    4. Motor restlessness, sleep disturbances, thermal sensory alterations and elevated serum iron levels in Btbd9 mutant mice. DeAndrade MP, et al. Hum Mol Genet, 2012 Sep 15. PMID 22678064, Free PMC Article
    5. Enhanced hippocampal long-term potentiation and fear memory in Btbd9 mutant mice. DeAndrade MP, et al. PLoS One, 2012. PMID 22536397, Free PMC Article

    See all (41) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Further Studies on the Role of BTBD9 in the Cerebellum, Sleep-like Behaviors and the Restless Legs Syndrome.
      Title: Further Studies on the Role of BTBD9 in the Cerebellum, Sleep-like Behaviors and the Restless Legs Syndrome.
    2. The Role of BTBD9 in the Cerebellum, Sleep-like Behaviors and the Restless Legs Syndrome.
      Title: The Role of BTBD9 in the Cerebellum, Sleep-like Behaviors and the Restless Legs Syndrome.
    3. BTBD9 and dopaminergic dysfunction in the pathogenesis of restless legs syndrome.
      Title: BTBD9 and dopaminergic dysfunction in the pathogenesis of restless legs syndrome.
    4. ystematic BTBD9 deficiency leads to both functional and morphometrical changes of the cerebral cortex, and an alteration in the corticostriatal pathway to medium spiny neurons
      Title: The role of BTBD9 in the cerebral cortex and the pathogenesis of restless legs syndrome.
    5. Knocking out Btbd9 in the corpus striatum led to rest-phase specific motor restlessness and sleep disturbance.
      Title: The Role of BTBD9 in Striatum and Restless Legs Syndrome.
    6. Btbd9 mutant mice had motor restlessness including increased total activity, voluntary activity, and wake time and arousals during the rest phase mimicking restless leg syndrome.
      Title: Motor restlessness, sleep disturbances, thermal sensory alterations and elevated serum iron levels in Btbd9 mutant mice.
    7. Btbd9 is naturally expressed in the hippocampus of mice and is involved in regulating synaptic plasticity and memory.
      Title: Enhanced hippocampal long-term potentiation and fear memory in Btbd9 mutant mice.
    8. In a homologous region in mouse, an area containing btbd9 was also identified as being related to iron homeostasis
      Title: Of mice and men, periodic limb movements and iron: how the human genome informs the mouse genome.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Gene trapped (1) 
    • Targeted (4)  1 citation
    • Endonuclease-mediated (2) 

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by MGI

    Process Evidence Code Pubs
    involved_in adult locomotory behavior IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    acts_upstream_of_or_within adult locomotory behavior IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in circadian behavior IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    acts_upstream_of_or_within circadian behavior IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within circadian sleep/wake cycle, non-REM sleep IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within long-term memory IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in modulation of chemical synaptic transmission IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in modulation of chemical synaptic transmission IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in modulation of chemical synaptic transmission IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within multicellular organismal-level iron ion homeostasis IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within regulation of synaptic vesicle endocytosis IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within sensory perception of temperature stimulus IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within serotonin metabolic process IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    is_active_in glutamatergic synapse IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in glutamatergic synapse IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    BTB/POZ domain-containing protein 9
    Names
    BTB (POZ) domain containing 9

    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_027060.1 → NP_081336.1  BTB/POZ domain-containing protein 9

      See identical proteins and their annotated locations for NP_081336.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript. Variants 1 and 2 encode the same protein.
      Source sequence(s)
      AC113540, AC125044, AC125544
      Consensus CDS
      CCDS28599.1
      UniProtKB/Swiss-Prot
      Q8C726
      UniProtKB/TrEMBL
      Q3U4Z0
      Related
      ENSMUSP00000127300.2, ENSMUST00000168787.8
      Conserved Domains (3) summary
      cd18287
      Location:14 → 133
      BTB_POZ_BTBD9; BTB (Broad-Complex, Tramtrack and Bric a brac)/POZ (poxvirus and zinc finger) domain found in BTB/POZ domain-containing protein 9 (BTBD9)
      cd14822
      Location:137 → 235
      BACK_BTBD9; BACK (BTB and C-terminal Kelch) domain found in BTB/POZ domain-containing protein 9 (BTBD9)
      pfam00754
      Location:292 → 405
      F5_F8_type_C; F5/8 type C domain

    2. NM_172618.2 → NP_766206.1  BTB/POZ domain-containing protein 9

      See identical proteins and their annotated locations for NP_766206.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 3' UTR, compared to variant 1. Variants 1 and 2 encode the same protein.
      Source sequence(s)
      AC125044, AK052664, BB614864
      Consensus CDS
      CCDS28599.1
      UniProtKB/Swiss-Prot
      Q8C726
      UniProtKB/TrEMBL
      Q3U4Z0
      Related
      ENSMUSP00000078845.6, ENSMUST00000079924.8
      Conserved Domains (3) summary
      cd18287
      Location:14 → 133
      BTB_POZ_BTBD9; BTB (Broad-Complex, Tramtrack and Bric a brac)/POZ (poxvirus and zinc finger) domain found in BTB/POZ domain-containing protein 9 (BTBD9)
      cd14822
      Location:137 → 235
      BACK_BTBD9; BACK (BTB and C-terminal Kelch) domain found in BTB/POZ domain-containing protein 9 (BTBD9)
      pfam00754
      Location:292 → 405
      F5_F8_type_C; F5/8 type C domain

    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_000083.7 Reference GRCm39 C57BL/6J

      Range
      30434498..30801595 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006524094.4 → XP_006524157.1  BTB/POZ domain-containing protein 9 isoform X1

      See identical proteins and their annotated locations for XP_006524157.1

      UniProtKB/TrEMBL
      Q3U4Z0
      Conserved Domains (4) summary
      cd18287
      Location:14 → 133
      BTB_POZ_BTBD9; BTB (Broad-Complex, Tramtrack and Bric a brac)/POZ (poxvirus and zinc finger) domain found in BTB/POZ domain-containing protein 9 (BTBD9)
      cd14822
      Location:137 → 235
      BACK_BTBD9; BACK (BTB and C-terminal Kelch) domain found in BTB/POZ domain-containing protein 9 (BTBD9)
      pfam00754
      Location:466 → 567
      F5_F8_type_C; F5/8 type C domain
      cl23730
      Location:292 → 426
      F5_F8_type_C; F5/8 type C domain

    2. XM_011246395.3 → XP_011244697.1  BTB/POZ domain-containing protein 9 isoform X1

      See identical proteins and their annotated locations for XP_011244697.1

      UniProtKB/TrEMBL
      Q3U4Z0
      Conserved Domains (4) summary
      cd18287
      Location:14 → 133
      BTB_POZ_BTBD9; BTB (Broad-Complex, Tramtrack and Bric a brac)/POZ (poxvirus and zinc finger) domain found in BTB/POZ domain-containing protein 9 (BTBD9)
      cd14822
      Location:137 → 235
      BACK_BTBD9; BACK (BTB and C-terminal Kelch) domain found in BTB/POZ domain-containing protein 9 (BTBD9)
      pfam00754
      Location:466 → 567
      F5_F8_type_C; F5/8 type C domain
      cl23730
      Location:292 → 426
      F5_F8_type_C; F5/8 type C domain

    3. XM_030249696.2 → XP_030105556.1  BTB/POZ domain-containing protein 9 isoform X2

      UniProtKB/Swiss-Prot
      Q8C726
      UniProtKB/TrEMBL
      Q3U4Z0
      Related
      ENSMUSP00000157449.2, ENSMUST00000237048.2
      Conserved Domains (3) summary
      cd18287
      Location:14 → 133
      BTB_POZ_BTBD9; BTB (Broad-Complex, Tramtrack and Bric a brac)/POZ (poxvirus and zinc finger) domain found in BTB/POZ domain-containing protein 9 (BTBD9)
      cd14822
      Location:137 → 235
      BACK_BTBD9; BACK (BTB and C-terminal Kelch) domain found in BTB/POZ domain-containing protein 9 (BTBD9)
      pfam00754
      Location:292 → 405
      F5_F8_type_C; F5/8 type C domain

    4. XM_006524095.5 → XP_006524158.1  BTB/POZ domain-containing protein 9 isoform X4

      UniProtKB/TrEMBL
      Q8C2V5
      Conserved Domains (2) summary
      cd18287
      Location:14 → 133
      BTB_POZ_BTBD9; BTB (Broad-Complex, Tramtrack and Bric a brac)/POZ (poxvirus and zinc finger) domain found in BTB/POZ domain-containing protein 9 (BTBD9)
      cd14822
      Location:137 → 235
      BACK_BTBD9; BACK (BTB and C-terminal Kelch) domain found in BTB/POZ domain-containing protein 9 (BTBD9)

    5. XM_006524096.4 → XP_006524159.1  BTB/POZ domain-containing protein 9 isoform X5

      UniProtKB/TrEMBL
      A0A494B989, Q8C2V5
      Conserved Domains (2) summary
      cd18287
      Location:14 → 133
      BTB_POZ_BTBD9; BTB (Broad-Complex, Tramtrack and Bric a brac)/POZ (poxvirus and zinc finger) domain found in BTB/POZ domain-containing protein 9 (BTBD9)
      cd14822
      Location:137 → 235
      BACK_BTBD9; BACK (BTB and C-terminal Kelch) domain found in BTB/POZ domain-containing protein 9 (BTBD9)

    6. XM_036160525.1 → XP_036016418.1  BTB/POZ domain-containing protein 9 isoform X5

      UniProtKB/TrEMBL
      A0A494B989, Q8C2V5
      Related
      ENSMUSP00000157534.2, ENSMUST00000236799.2
      Conserved Domains (2) summary
      cd18287
      Location:14 → 133
      BTB_POZ_BTBD9; BTB (Broad-Complex, Tramtrack and Bric a brac)/POZ (poxvirus and zinc finger) domain found in BTB/POZ domain-containing protein 9 (BTBD9)
      cd14822
      Location:137 → 235
      BACK_BTBD9; BACK (BTB and C-terminal Kelch) domain found in BTB/POZ domain-containing protein 9 (BTBD9)

    7. XM_036160523.1 → XP_036016416.1  BTB/POZ domain-containing protein 9 isoform X3

      UniProtKB/TrEMBL
      Q8C2V5
      Conserved Domains (2) summary
      cd18287
      Location:14 → 133
      BTB_POZ_BTBD9; BTB (Broad-Complex, Tramtrack and Bric a brac)/POZ (poxvirus and zinc finger) domain found in BTB/POZ domain-containing protein 9 (BTBD9)
      cd14822
      Location:137 → 235
      BACK_BTBD9; BACK (BTB and C-terminal Kelch) domain found in BTB/POZ domain-containing protein 9 (BTBD9)
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8C726.1 GenPept UniProtKB/Swiss-Prot:Q8C726

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