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

Gene ID: 76719, updated on 4-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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