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    KANSL1 KAT8 regulatory NSL complex subunit 1 [ Homo sapiens (human) ]

    Gene ID: 284058, updated on 10-Dec-2024

    Summary

    Official Symbol
    KANSL1provided by HGNC
    Official Full Name
    KAT8 regulatory NSL complex subunit 1provided by HGNC
    Primary source
    HGNC:HGNC:24565
    See related
    Ensembl:ENSG00000120071 MIM:612452; AllianceGenome:HGNC:24565
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    KDVS; NSL1; MSL1v1; CENP-36; hMSL1v1; KIAA1267; DEL17Q21.31; C17DELq21.31
    Summary
    This gene encodes a nuclear protein that is a subunit of two protein complexes involved with histone acetylation, the MLL1 complex and the NSL1 complex. The encoded protein has been implicated in a variety of cellular processes including enhancer regulation, cell proliferation, and mitosis. Mutations in this gene are associated with Koolen-de Vries Syndrome. [provided by RefSeq, May 2022]
    Annotation information
    Note: This gene has been reviewed for its involvement in coronavirus biology, and is locus in the vicinity of disease-associated variant(s).
    Expression
    Ubiquitous expression in testis (RPKM 12.3), ovary (RPKM 9.4) and 25 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See KANSL1 in Genome Data Viewer
    Location:
    17q21.31
    Exon count:
    22
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (46029916..46225367, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (46891535..47087028, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (44107282..44302733, complement)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105371800 Neighboring gene OCT4-H3K4me1 hESC enhancer GRCh37_chr17:44019777-44020277 Neighboring gene microtubule associated protein tau Neighboring gene ReSE screen-validated silencer GRCh37_chr17:44066175-44066366 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:44070003-44070564 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:44086993-44087496 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:44100868-44101486 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:44102104-44102721 Neighboring gene saitohin Neighboring gene MPRA-validated peak2868 silencer Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:44225973-44226474 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:44226475-44226974 Neighboring gene uncharacterized LOC107985027 Neighboring gene KANSL1 antisense RNA 1 Neighboring gene mitogen-activated protein kinase 8 interacting protein 1 pseudogene 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:44337043-44337589 Neighboring gene leucine rich repeat containing 37A Neighboring gene DND microRNA-mediated repression inhibitor 1 pseudogene 2

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Koolen-de Vries syndrome
    MedGen: C1864871 OMIM: 610443 GeneReviews: Koolen-de Vries Syndrome
    Compare labs

    Copy number response

    Description
    Copy number response
    Triplosensitivity

    No evidence available (Last evaluated 2013-04-11)

    ClinGen Genome Curation Page
    Haploinsufficency

    Sufficient evidence for dosage pathogenicity (Last evaluated 2013-04-11)

    ClinGen Genome Curation PagePubMed

    EBI GWAS Catalog

    Description
    Common variants at 6q22 and 17q21 are associated with intracranial volume.
    EBI GWAS Catalog
    Genetic variants associated with idiopathic pulmonary fibrosis susceptibility and mortality: a genome-wide association study.
    EBI GWAS Catalog
    Genome-wide mapping of IBD segments in an Ashkenazi PD cohort identifies associated haplotypes.
    EBI GWAS Catalog

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • KIAA1267, MGC102843, DKFZp727C091, DKFZp686P06109

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables histone acetyltransferase binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    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 IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Component Evidence Code Pubs
    part_of MLL1 complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    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 histone acetyltransferase complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in kinetochore IEA
    Inferred from Electronic Annotation
    more info
     
    located_in mitochondrion IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
     
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
     
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
     

    General protein information

    Preferred Names
    KAT8 regulatory NSL complex subunit 1
    Names
    MLL1/MLL complex subunit KANSL1
    MSL1 homolog 1
    NSL complex protein NSL1
    centromere protein 36
    male-specific lethal 1 homolog
    non-specific lethal 1 homolog

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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.

    Genomic

    1. NG_032784.1 RefSeqGene

      Range
      36946..200459
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001193465.2NP_001180394.1  KAT8 regulatory NSL complex subunit 1 isoform 2

      See identical proteins and their annotated locations for NP_001180394.1

      Status: REVIEWED

      Source sequence(s)
      AC217773, CR936218, KF495991
      Consensus CDS
      CCDS74084.1
      UniProtKB/TrEMBL
      A0A0G2JQF4, A0A9S7M8F4
      Related
      ENSP00000461812.2, ENST00000574590.6
      Conserved Domains (1) summary
      pfam15275
      Location:885997
      PEHE; PEHE domain
    2. NM_001193466.2NP_001180395.1  KAT8 regulatory NSL complex subunit 1 isoform 1

      See identical proteins and their annotated locations for NP_001180395.1

      Status: REVIEWED

      Source sequence(s)
      AL137317, BC098376, BX538006
      Consensus CDS
      CCDS11503.2
      UniProtKB/Swiss-Prot
      A8K5E4, B3KT49, I3L4J3, Q6AW85, Q7Z3B3, Q8IYH1, Q9BRH0, Q9NTE7, Q9UFT0, Q9ULF3
      UniProtKB/TrEMBL
      A0A0G2JQF4
      Related
      ENSP00000262419.6, ENST00000262419.10
      Conserved Domains (1) summary
      pfam15275
      Location:8851003
      PEHE; PEHE domain
    3. NM_001379198.1NP_001366127.1  KAT8 regulatory NSL complex subunit 1 isoform 1

      Status: REVIEWED

      Source sequence(s)
      AC217773, CR936218, KF495991
      Consensus CDS
      CCDS11503.2
      UniProtKB/Swiss-Prot
      A8K5E4, B3KT49, I3L4J3, Q6AW85, Q7Z3B3, Q8IYH1, Q9BRH0, Q9NTE7, Q9UFT0, Q9ULF3
      UniProtKB/TrEMBL
      A0A0G2JQF4
      Related
      ENSP00000461484.1, ENST00000572904.6
      Conserved Domains (1) summary
      pfam15275
      Location:8851003
      PEHE; PEHE domain
    4. NM_001405854.1NP_001392783.1  KAT8 regulatory NSL complex subunit 1 isoform 1

      Status: REVIEWED

      Source sequence(s)
      AC217773, CR936218, KF495991
      Consensus CDS
      CCDS11503.2
      UniProtKB/Swiss-Prot
      A8K5E4, B3KT49, I3L4J3, Q6AW85, Q7Z3B3, Q8IYH1, Q9BRH0, Q9NTE7, Q9UFT0, Q9ULF3
      UniProtKB/TrEMBL
      A0A0G2JQF4
    5. NM_001405855.1NP_001392784.1  KAT8 regulatory NSL complex subunit 1 isoform 1

      Status: REVIEWED

      Source sequence(s)
      AC217773, CR936218, KF495991
      UniProtKB/Swiss-Prot
      A8K5E4, B3KT49, I3L4J3, Q6AW85, Q7Z3B3, Q8IYH1, Q9BRH0, Q9NTE7, Q9UFT0, Q9ULF3
      UniProtKB/TrEMBL
      A0A0G2JQF4
    6. NM_001405856.1NP_001392785.1  KAT8 regulatory NSL complex subunit 1 isoform 2

      Status: REVIEWED

      Source sequence(s)
      AC217773, CR936218, KF495991
      Consensus CDS
      CCDS74084.1
      UniProtKB/TrEMBL
      A0A0G2JQF4, A0A9S7M8F4
    7. NM_001405857.1NP_001392786.1  KAT8 regulatory NSL complex subunit 1 isoform 2

      Status: REVIEWED

      Source sequence(s)
      AC217773, CR936218, KF495991
      UniProtKB/TrEMBL
      A0A0G2JQF4, A0A9S7M8F4
    8. NM_001405858.1NP_001392787.1  KAT8 regulatory NSL complex subunit 1 isoform 2

      Status: REVIEWED

      Source sequence(s)
      AC217773, CR936218, KF495991
      UniProtKB/TrEMBL
      A0A0G2JQF4, A0A9S7M8F4
    9. NM_001405859.1NP_001392788.1  KAT8 regulatory NSL complex subunit 1 isoform 3

      Status: REVIEWED

      Source sequence(s)
      AC217773, CR936218, KF495991
      UniProtKB/TrEMBL
      A0A0G2JQF4
    10. NM_001405860.1NP_001392789.1  KAT8 regulatory NSL complex subunit 1 isoform 3

      Status: REVIEWED

      Source sequence(s)
      AC217773, CR936218, KF495991
      UniProtKB/TrEMBL
      A0A0G2JQF4
    11. NM_001405861.1NP_001392790.1  KAT8 regulatory NSL complex subunit 1 isoform 4

      Status: REVIEWED

      Source sequence(s)
      AC217773, CR936218, KF495991
      UniProtKB/TrEMBL
      A0A0G2JQF4
    12. NM_001405872.1NP_001392801.1  KAT8 regulatory NSL complex subunit 1 isoform 5

      Status: REVIEWED

      Source sequence(s)
      AC217773, CR936218, KF495991
      UniProtKB/TrEMBL
      A0A0G2JQF4, A0A3B3IT55
      Related
      ENSP00000497628.1, ENST00000648792.1
    13. NM_001405873.1NP_001392802.1  KAT8 regulatory NSL complex subunit 1 isoform 5

      Status: REVIEWED

      Source sequence(s)
      AC217773, CR936218, KF495991
      UniProtKB/TrEMBL
      A0A0G2JQF4, A0A3B3IT55
    14. NM_001405874.1NP_001392803.1  KAT8 regulatory NSL complex subunit 1 isoform 5

      Status: REVIEWED

      Source sequence(s)
      AC217773, CR936218, KF495991
      UniProtKB/TrEMBL
      A0A0G2JQF4, A0A3B3IT55
    15. NM_001405875.1NP_001392804.1  KAT8 regulatory NSL complex subunit 1 isoform 6

      Status: REVIEWED

      Source sequence(s)
      AC217773, CR936218, KF495991
      UniProtKB/TrEMBL
      A0A0J9YVS1
    16. NM_001405876.1NP_001392805.1  KAT8 regulatory NSL complex subunit 1 isoform 6

      Status: REVIEWED

      Source sequence(s)
      AC217773, CR936218, KF495991
      UniProtKB/TrEMBL
      A0A0J9YVS1
    17. NM_001405877.1NP_001392806.1  KAT8 regulatory NSL complex subunit 1 isoform 6

      Status: REVIEWED

      Source sequence(s)
      AC217773, CR936218, KF495991
      UniProtKB/TrEMBL
      A0A0J9YVS1
    18. NM_001405878.1NP_001392807.1  KAT8 regulatory NSL complex subunit 1 isoform 6

      Status: REVIEWED

      Source sequence(s)
      AC217773, CR936218, KF495991
      UniProtKB/TrEMBL
      A0A0J9YVS1
      Related
      ENSP00000491765.1, ENST00000639531.1
    19. NM_001405879.1NP_001392808.1  KAT8 regulatory NSL complex subunit 1 isoform 7

      Status: REVIEWED

      Source sequence(s)
      AC217773, CR936218, KF495991
      Consensus CDS
      CCDS92348.1
      UniProtKB/TrEMBL
      A0A0J9YVS1, A0A1W2PRB5
      Related
      ENSP00000461299.1, ENST00000575318.6
    20. NM_001405880.1NP_001392809.1  KAT8 regulatory NSL complex subunit 1 isoform 7

      Status: REVIEWED

      Source sequence(s)
      AC217773, CR936218, KF495991
      UniProtKB/TrEMBL
      A0A0J9YVS1, A0A1W2PRB5
      Related
      ENSP00000492576.1, ENST00000638275.1
    21. NM_001405881.1NP_001392810.1  KAT8 regulatory NSL complex subunit 1 isoform 8

      Status: REVIEWED

      Source sequence(s)
      AC217773, CR936218, KF495991
      UniProtKB/TrEMBL
      A0A0G2JQF4
    22. NM_001405882.1NP_001392811.1  KAT8 regulatory NSL complex subunit 1 isoform 9

      Status: REVIEWED

      Source sequence(s)
      AC217773, CR936218, KF495991
    23. NM_001405883.1NP_001392812.1  KAT8 regulatory NSL complex subunit 1 isoform 10

      Status: REVIEWED

      Source sequence(s)
      AC217773, CR936218, KF495991
    24. NM_001405884.1NP_001392813.1  KAT8 regulatory NSL complex subunit 1 isoform 11

      Status: REVIEWED

      Source sequence(s)
      AC217773, CR936218, KF495991
    25. NM_001405885.1NP_001392814.1  KAT8 regulatory NSL complex subunit 1 isoform 12

      Status: REVIEWED

      Source sequence(s)
      AC217773, CR936218, KF495991
    26. NM_015443.4NP_056258.1  KAT8 regulatory NSL complex subunit 1 isoform 1

      See identical proteins and their annotated locations for NP_056258.1

      Status: REVIEWED

      Source sequence(s)
      AC217773, AI253068, BC098376
      Consensus CDS
      CCDS11503.2
      UniProtKB/Swiss-Prot
      A8K5E4, B3KT49, I3L4J3, Q6AW85, Q7Z3B3, Q8IYH1, Q9BRH0, Q9NTE7, Q9UFT0, Q9ULF3
      UniProtKB/TrEMBL
      A0A0G2JQF4
      Related
      ENSP00000387393.3, ENST00000432791.7
      Conserved Domains (1) summary
      pfam15275
      Location:8851003
      PEHE; PEHE domain

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000017.11 Reference GRCh38.p14 Primary Assembly

      Range
      46029916..46225367 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047435800.1XP_047291756.1  KAT8 regulatory NSL complex subunit 1 isoform X3

      UniProtKB/TrEMBL
      A0A0J9YVS1
    2. XM_047435801.1XP_047291757.1  KAT8 regulatory NSL complex subunit 1 isoform X4

    3. XM_011524628.4XP_011522930.1  KAT8 regulatory NSL complex subunit 1 isoform X2

      See identical proteins and their annotated locations for XP_011522930.1

      UniProtKB/TrEMBL
      A0A0G2JQF4, A0A9S7M8F4
      Conserved Domains (1) summary
      pfam15275
      Location:885997
      PEHE; PEHE domain
    4. XM_047435794.1XP_047291750.1  KAT8 regulatory NSL complex subunit 1 isoform X1

      UniProtKB/Swiss-Prot
      A8K5E4, B3KT49, I3L4J3, Q6AW85, Q7Z3B3, Q8IYH1, Q9BRH0, Q9NTE7, Q9UFT0, Q9ULF3
      UniProtKB/TrEMBL
      A0A0G2JQF4

    Reference GRCh38.p14 ALT_REF_LOCI_1

    Genomic

    1. NT_167251.2 Reference GRCh38.p14 ALT_REF_LOCI_1

      Range
      561512..758707
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054328563.1XP_054184538.1  KAT8 regulatory NSL complex subunit 1 isoform X4

    2. XM_054328562.1XP_054184537.1  KAT8 regulatory NSL complex subunit 1 isoform X3

      UniProtKB/TrEMBL
      A0A0G2JQF5
    3. XM_054328560.1XP_054184535.1  KAT8 regulatory NSL complex subunit 1 isoform X2

      UniProtKB/TrEMBL
      A0A0G2JQF4
    4. XM_054328561.1XP_054184536.1  KAT8 regulatory NSL complex subunit 1 isoform X5

      UniProtKB/TrEMBL
      A0A0G2JQF5

    Reference GRCh38.p14 ALT_REF_LOCI_2

    Genomic

    1. NT_187663.1 Reference GRCh38.p14 ALT_REF_LOCI_2

      Range
      732028..927537 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054330103.1XP_054186078.1  KAT8 regulatory NSL complex subunit 1 isoform X3

      UniProtKB/TrEMBL
      A0A0J9YVS1
    2. XM_054330104.1XP_054186079.1  KAT8 regulatory NSL complex subunit 1 isoform X4

    3. XM_054330101.1XP_054186076.1  KAT8 regulatory NSL complex subunit 1 isoform X1

      UniProtKB/TrEMBL
      A0A0G2JNT7, A0A0G2JQF4
    4. XM_054330102.1XP_054186077.1  KAT8 regulatory NSL complex subunit 1 isoform X6

      UniProtKB/TrEMBL
      A0A0G2JQF4

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060941.1 Alternate T2T-CHM13v2.0

      Range
      46891535..47087028 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054315778.1XP_054171753.1  KAT8 regulatory NSL complex subunit 1 isoform X3

      UniProtKB/TrEMBL
      A0A0J9YVS1
    2. XM_054315779.1XP_054171754.1  KAT8 regulatory NSL complex subunit 1 isoform X4

    3. XM_054315777.1XP_054171752.1  KAT8 regulatory NSL complex subunit 1 isoform X5

      UniProtKB/TrEMBL
      A0A0J9YVS1
    4. XM_054315775.1XP_054171750.1  KAT8 regulatory NSL complex subunit 1 isoform X2

      UniProtKB/TrEMBL
      A0A0G2JNB1, A0A0G2JQF4
    5. XM_054315774.1XP_054171749.1  KAT8 regulatory NSL complex subunit 1 isoform X1

      UniProtKB/TrEMBL
      A0A0G2JNT7, A0A0G2JQF4
    6. XM_054315776.1XP_054171751.1  KAT8 regulatory NSL complex subunit 1 isoform X6

      UniProtKB/TrEMBL
      A0A0G2JQF4