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    Kansl1 KAT8 regulatory NSL complex subunit 1 [ Mus musculus (house mouse) ]

    Gene ID: 76719, updated on 2-Nov-2024

    Summary

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    Official Symbol
    Kansl1provided by MGI
    Official Full Name
    KAT8 regulatory NSL complex subunit 1provided by MGI
    Primary source
    MGI:MGI:1923969
    See related
    Ensembl:ENSMUSG00000018412 AllianceGenome:MGI:1923969
    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
    mKIAA1267; 1700081L11Rik; 9430041J06Rik
    Summary
    Predicted to enable histone acetyltransferase binding activity. Predicted to be involved in regulation of mitochondrial transcription. Part of NSL complex. Is active in mitochondrion. Is expressed in brain. Human ortholog(s) of this gene implicated in Koolen de Vries syndrome. Orthologous to human KANSL1 (KAT8 regulatory NSL complex subunit 1). [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in thymus adult (RPKM 26.5), ovary adult (RPKM 22.2) and 28 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Kansl1 in Genome Data Viewer
    Location:
    11 E1; 11 67.79 cM
    Exon count:
    21
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 11 NC_000077.7 (104224327..104360584, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 11 NC_000077.6 (104333501..104469508, complement)

    Chromosome 11 - NC_000077.7Genomic Context describing neighboring genes Neighboring gene predicted gene, 53648 Neighboring gene microtubule-associated protein tau Neighboring gene predicted gene, 22743 Neighboring gene STARR-seq mESC enhancer starr_30878 Neighboring gene STARR-seq mESC enhancer starr_30880 Neighboring gene STARR-seq mESC enhancer starr_30882 Neighboring gene CapStarr-seq enhancer MGSCv37_chr11:104286345-104286585 Neighboring gene STARR-seq mESC enhancer starr_30888 Neighboring gene STARR-positive B cell enhancer mm9_chr11:104322909-104323210 Neighboring gene STARR-positive B cell enhancer mm9_chr11:104330691-104330991 Neighboring gene STARR-seq mESC enhancer starr_30889 Neighboring gene cell division cycle 27 Neighboring gene STARR-seq mESC enhancer starr_30890 Neighboring gene myosin, light polypeptide 4 Neighboring gene predicted gene 11665

    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 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. Kansl1 haploinsufficiency impairs autophagosome-lysosome fusion and links autophagic dysfunction with Koolen-de Vries syndrome in mice. Li T, et al. Nat Commun, 2022 Feb 17. PMID 35177641, Free PMC Article
    2. Mouse models of 17q21.31 microdeletion and microduplication syndromes highlight the importance of Kansl1 for cognition. Arbogast T, et al. PLoS Genet, 2017 Jul. PMID 28704368, Free PMC Article
    3. Reduced number of axonal mitochondria and tau hypophosphorylation in mouse P301L tau knockin neurons. Rodríguez-Martín T, et al. Neurobiol Dis, 2016 Jan. PMID 26459111, Free PMC Article
    4. Mutant Tau knock-in mice display frontotemporal dementia relevant behaviour and histopathology. Koss DJ, et al. Neurobiol Dis, 2016 Jul. PMID 26949217
    5. Age-dependent axonal transport and locomotor changes and tau hypophosphorylation in a "P301L" tau knockin mouse. Gilley J, et al. Neurobiol Aging, 2012 Mar. PMID 21492964

    See all (32) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Kansl1 haploinsufficiency impairs autophagosome-lysosome fusion and links autophagic dysfunction with Koolen-de Vries syndrome in mice.
      Title: Kansl1 haploinsufficiency impairs autophagosome-lysosome fusion and links autophagic dysfunction with Koolen-de Vries syndrome in mice.
    2. Our results demonstrate the implication of KANSL1 in the manifestation of Koolen-de Vries syndrome phenotypes and extend substantially our knowledge about biological processes affected by these mutations. Clear differences in social behavior and gene expression profiles between Del/+ and Kansl1+/- mice suggested potential roles of other genes affected by the 17q21.31 deletion.
      Title: Mouse models of 17q21.31 microdeletion and microduplication syndromes highlight the importance of Kansl1 for cognition.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

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

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • KIAA1267, MGC90742

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables histone acetyltransferase binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Process Evidence Code Pubs
    involved_in chromatin organization IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in positive regulation of DNA-templated transcription NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in regulation of mitochondrial transcription ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in regulation of mitochondrial transcription ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Component Evidence Code Pubs
    part_of MLL1 complex ISO
    Inferred from Sequence Orthology
    more info
    		  
    part_of MLL1 complex ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    part_of NSL complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of NSL complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    part_of NSL complex ISO
    Inferred from Sequence Orthology
    more info
    		  
    part_of NSL complex ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    part_of histone acetyltransferase complex ISO
    Inferred from Sequence Orthology
    more info
    		  
    part_of histone acetyltransferase complex ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in kinetochore IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in mitochondrion IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in mitochondrion ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in mitochondrion ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in nucleoplasm ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in nucleus ISO
    Inferred from Sequence Orthology
    more info
    		  

    General protein information

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    Preferred Names
    KAT8 regulatory NSL complex subunit 1
    Names
    NSL complex protein NSL1
    non-specific lethal 1 homolog

    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_001081045.2 → NP_001074514.1  KAT8 regulatory NSL complex subunit 1 isoform 1

      See identical proteins and their annotated locations for NP_001074514.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes isoform 1. Variants 1 and 2 encode the same protein.
      Source sequence(s)
      AL593843, BC054752, BC079594
      Consensus CDS
      CCDS48953.1
      UniProtKB/Swiss-Prot
      A2A5Y5, Q3TT88, Q3U5D8, Q3V3N3, Q7TMU3, Q80TG1, Q80XP7, Q8R3L6, Q9D9G0
      Related
      ENSMUSP00000102590.2, ENSMUST00000106977.8
      Conserved Domains (1) summary
      pfam15275
      Location:816 → 934
      PEHE; PEHE domain

    2. NM_001359634.1 → NP_001346563.1  KAT8 regulatory NSL complex subunit 1 isoform 1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR, compared to variant 1. Variants 1 and 2 encode the same protein.
      Source sequence(s)
      BC054752, BC079594
      Consensus CDS
      CCDS48953.1
      UniProtKB/Swiss-Prot
      A2A5Y5, Q3TT88, Q3U5D8, Q3V3N3, Q7TMU3, Q80TG1, Q80XP7, Q8R3L6, Q9D9G0
      Related
      ENSMUSP00000018556.5, ENSMUST00000018556.11
      Conserved Domains (1) summary
      pfam15275
      Location:816 → 934
      PEHE; PEHE domain

    3. NM_001372458.1 → NP_001359387.1  KAT8 regulatory NSL complex subunit 1 isoform 2

      Status: VALIDATED

      Source sequence(s)
      AL593843, AL603709
      Conserved Domains (1) summary
      pfam15275
      Location:846 → 964
      PEHE; PEHE domain

    4. NM_001372459.1 → NP_001359388.1  KAT8 regulatory NSL complex subunit 1 isoform 3

      Status: VALIDATED

      Source sequence(s)
      AL593843
      Consensus CDS
      CCDS88268.1
      UniProtKB/TrEMBL
      A2A5Y4
      Related
      ENSMUSP00000102585.2, ENSMUST00000106972.8
      Conserved Domains (1) summary
      pfam15275
      Location:879 → 997
      PEHE; PEHE domain

    5. NM_001372460.1 → NP_001359389.1  KAT8 regulatory NSL complex subunit 1 isoform 4

      Status: VALIDATED

      Source sequence(s)
      AL593843
      Conserved Domains (1) summary
      pfam15275
      Location:783 → 901
      PEHE; PEHE 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_000077.7 Reference GRCm39 C57BL/6J

      Range
      104224327..104360584 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_036157074.1 → XP_036012967.1  KAT8 regulatory NSL complex subunit 1 isoform X3

      UniProtKB/Swiss-Prot
      A2A5Y5, Q3TT88, Q3U5D8, Q3V3N3, Q7TMU3, Q80TG1, Q80XP7, Q8R3L6, Q9D9G0
      Conserved Domains (1) summary
      pfam15275
      Location:816 → 934
      PEHE; PEHE domain

    2. XM_006534447.5 → XP_006534510.1  KAT8 regulatory NSL complex subunit 1 isoform X1

      See identical proteins and their annotated locations for XP_006534510.1

      UniProtKB/TrEMBL
      A2A5Y4
      Related
      ENSMUSP00000102584.2, ENSMUST00000106971.2
      Conserved Domains (1) summary
      pfam15275
      Location:879 → 997
      PEHE; PEHE domain

    3. XM_036157073.1 → XP_036012966.1  KAT8 regulatory NSL complex subunit 1 isoform X2

      Conserved Domains (1) summary
      pfam15275
      Location:846 → 964
      PEHE; PEHE domain

    4. XM_036157070.1 → XP_036012963.1  KAT8 regulatory NSL complex subunit 1 isoform X1

      UniProtKB/TrEMBL
      A2A5Y4
      Conserved Domains (1) summary
      pfam15275
      Location:879 → 997
      PEHE; PEHE domain

    5. XM_036157071.1 → XP_036012964.1  KAT8 regulatory NSL complex subunit 1 isoform X2

      Conserved Domains (1) summary
      pfam15275
      Location:846 → 964
      PEHE; PEHE domain

    6. XM_006534446.5 → XP_006534509.1  KAT8 regulatory NSL complex subunit 1 isoform X1

      See identical proteins and their annotated locations for XP_006534509.1

      UniProtKB/TrEMBL
      A2A5Y4
      Conserved Domains (1) summary
      pfam15275
      Location:879 → 997
      PEHE; PEHE domain

    7. XM_011249307.4 → XP_011247609.1  KAT8 regulatory NSL complex subunit 1 isoform X1

      See identical proteins and their annotated locations for XP_011247609.1

      UniProtKB/TrEMBL
      A2A5Y4
      Conserved Domains (1) summary
      pfam15275
      Location:879 → 997
      PEHE; PEHE domain

    8. XM_036157072.1 → XP_036012965.1  KAT8 regulatory NSL complex subunit 1 isoform X2

      Conserved Domains (1) summary
      pfam15275
      Location:846 → 964
      PEHE; PEHE domain

    9. XM_006534450.5 → XP_006534513.1  KAT8 regulatory NSL complex subunit 1 isoform X1

      See identical proteins and their annotated locations for XP_006534513.1

      UniProtKB/TrEMBL
      A2A5Y4
      Conserved Domains (1) summary
      pfam15275
      Location:879 → 997
      PEHE; PEHE domain

    10. XM_030246421.1 → XP_030102281.1  KAT8 regulatory NSL complex subunit 1 isoform X2

      Conserved Domains (1) summary
      pfam15275
      Location:846 → 964
      PEHE; PEHE domain

    11. XM_006534451.5 → XP_006534514.1  KAT8 regulatory NSL complex subunit 1 isoform X2

      See identical proteins and their annotated locations for XP_006534514.1

      Conserved Domains (1) summary
      pfam15275
      Location:846 → 964
      PEHE; PEHE domain

    12. XM_006534449.5 → XP_006534512.1  KAT8 regulatory NSL complex subunit 1 isoform X1

      See identical proteins and their annotated locations for XP_006534512.1

      UniProtKB/TrEMBL
      A2A5Y4
      Conserved Domains (1) summary
      pfam15275
      Location:879 → 997
      PEHE; PEHE domain

    13. XM_036157075.1 → XP_036012968.1  KAT8 regulatory NSL complex subunit 1 isoform X3

      UniProtKB/Swiss-Prot
      A2A5Y5, Q3TT88, Q3U5D8, Q3V3N3, Q7TMU3, Q80TG1, Q80XP7, Q8R3L6, Q9D9G0
      Conserved Domains (1) summary
      pfam15275
      Location:816 → 934
      PEHE; PEHE domain

    14. XM_036157077.1 → XP_036012970.1  KAT8 regulatory NSL complex subunit 1 isoform X4

      Conserved Domains (1) summary
      pfam15275
      Location:783 → 901
      PEHE; PEHE domain

    15. XM_036157076.1 → XP_036012969.1  KAT8 regulatory NSL complex subunit 1 isoform X3

      UniProtKB/Swiss-Prot
      A2A5Y5, Q3TT88, Q3U5D8, Q3V3N3, Q7TMU3, Q80TG1, Q80XP7, Q8R3L6, Q9D9G0
      Conserved Domains (1) summary
      pfam15275
      Location:816 → 934
      PEHE; PEHE domain

    16. XM_036157078.1 → XP_036012971.1  KAT8 regulatory NSL complex subunit 1 isoform X4

      Conserved Domains (1) summary
      pfam15275
      Location:783 → 901
      PEHE; PEHE domain
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q80TG1.1 GenPept UniProtKB/Swiss-Prot:Q80TG1

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