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

    Gene ID: 284058, updated on 26-Nov-2021

    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
    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
    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 corresponding protein in Drosophila interacts with K(lysine) acetyltransferase 8, which is also a subunit of both the MLL1 and NSL1 complexes. [provided by RefSeq, Jun 2012]
    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:
    20
    Annotation release Status Assembly Chr Location
    109.20211119 current GRCh38.p13 (GCF_000001405.39) 17 NC_000017.11 (46027335..46225370, complement)
    105.20201022 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 microtubule associated protein tau Neighboring gene saitohin Neighboring gene uncharacterized LOC107985027 Neighboring gene KANSL1 antisense RNA 1 Neighboring gene mitogen-activated protein kinase 8 interacting protein 1 pseudogene 1 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
    Common variants at 6q22 and 17q21 are associated with intracranial volume.
    GeneReviews: Not available
    Genetic variants associated with idiopathic pulmonary fibrosis susceptibility and mortality: a genome-wide association study.
    GeneReviews: Not available
    Genome-wide mapping of IBD segments in an Ashkenazi PD cohort identifies associated haplotypes.
    GeneReviews: Not available
    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

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    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
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    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
    PubMed 
    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 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
      37593..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/Swiss-Prot
      Q7Z3B3
      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
      Q7Z3B3
      UniProtKB/TrEMBL
      A0A024R9Y2
      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
      Related
      ENSP00000461484.1, ENST00000572904.6
      Conserved Domains (1) summary
      pfam15275
      Location:8851003
      PEHE; PEHE domain
    4. 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
      Q7Z3B3
      UniProtKB/TrEMBL
      A0A024R9Y2
      Related
      ENSP00000387393.3, ENST00000432791.7
      Conserved Domains (1) summary
      pfam15275
      Location:8851003
      PEHE; PEHE domain

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20211119

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000017.11 Reference GRCh38.p13 Primary Assembly

      Range
      46027335..46225370 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017024488.2XP_016879977.1  KAT8 regulatory NSL complex subunit 1 isoform X5

      UniProtKB/TrEMBL
      A0A1W2PRB5
      Related
      ENSP00000461299.1, ENST00000575318.6
      Conserved Domains (1) summary
      pfam15275
      Location:822934
      PEHE; PEHE domain
    2. XM_011524631.3XP_011522933.1  KAT8 regulatory NSL complex subunit 1 isoform X5

      UniProtKB/TrEMBL
      A0A1W2PRB5
      Conserved Domains (1) summary
      pfam15275
      Location:822934
      PEHE; PEHE domain
    3. XM_011524630.3XP_011522932.1  KAT8 regulatory NSL complex subunit 1 isoform X4

      Conserved Domains (1) summary
      pfam15275
      Location:823935
      PEHE; PEHE domain
    4. XM_011524628.3XP_011522930.1  KAT8 regulatory NSL complex subunit 1 isoform X2

      See identical proteins and their annotated locations for XP_011522930.1

      Conserved Domains (1) summary
      pfam15275
      Location:885997
      PEHE; PEHE domain
    5. XM_006721824.4XP_006721887.1  KAT8 regulatory NSL complex subunit 1 isoform X1

      See identical proteins and their annotated locations for XP_006721887.1

      UniProtKB/Swiss-Prot
      Q7Z3B3
      UniProtKB/TrEMBL
      A0A024R9Y2
      Conserved Domains (1) summary
      pfam15275
      Location:8851003
      PEHE; PEHE domain
    6. XM_011524629.3XP_011522931.1  KAT8 regulatory NSL complex subunit 1 isoform X3

      Conserved Domains (1) summary
      pfam15275
      Location:852964
      PEHE; PEHE domain
    7. XM_011524632.3XP_011522934.1  KAT8 regulatory NSL complex subunit 1 isoform X7

      Conserved Domains (1) summary
      pfam15275
      Location:476588
      PEHE; PEHE domain
    8. XM_017024489.1XP_016879978.1  KAT8 regulatory NSL complex subunit 1 isoform X6

    Reference GRCh38.p13 ALT_REF_LOCI_1

    Genomic

    1. NT_167251.2 Reference GRCh38.p13 ALT_REF_LOCI_1

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

    Reference GRCh38.p13 ALT_REF_LOCI_2

    Genomic

    1. NT_187663.1 Reference GRCh38.p13 ALT_REF_LOCI_2

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