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

Gene ID: 284058, updated on 3-Apr-2024

Summary

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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
mouse all
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Genomic context

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Location:
17q21.31
Exon count:
22
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (46029916..46225367, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (46891535..47087028, complement)
105.20220307 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

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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

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Related articles in PubMed

  1. Adult phenotype in Koolen-de Vries/KANSL1 haploinsufficiency syndrome. Amenta S, et al. J Med Genet, 2022 Feb. PMID 33361104
  2. Analysis in epithelial ovarian cancer identifies KANSL1 as a biomarker and target gene for immune response and HDAC inhibition. Fejzo MS, et al. Gynecol Oncol, 2021 Feb. PMID 33229045
  3. KANSL1 variation is not a major contributing factor in self-limited focal epilepsy syndromes of childhood. Myers KA, et al. PLoS One, 2018. PMID 29352316, Free PMC Article
  4. Partial microduplication in the histone acetyltransferase complex member KANSL1 is associated with congenital heart defects in 22q11.2 microdeletion syndrome patients. León LE, et al. Sci Rep, 2017 May 11. PMID 28496102, Free PMC Article
  5. 10-year-old female with intragenic KANSL1 mutation, no KANSL1-related intellectual disability, and preserved verbal intelligence. Keen C, et al. Am J Med Genet A, 2017 Mar. PMID 28211987

See all (75) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. A new blood DNA methylation signature for Koolen-de Vries syndrome: Classification of missense KANSL1 variants and comparison to fibroblast cells.
    Title: A new blood DNA methylation signature for Koolen-de Vries syndrome: Classification of missense KANSL1 variants and comparison to fibroblast cells.
  2. Recurrent KAT6B/A::KANSL1 Fusions Characterize a Potentially Aggressive Uterine Sarcoma Morphologically Overlapping With Low-grade Endometrial Stromal Sarcoma.
    Title: Recurrent KAT6B/A::KANSL1 Fusions Characterize a Potentially Aggressive Uterine Sarcoma Morphologically Overlapping With Low-grade Endometrial Stromal Sarcoma.
  3. Adult phenotype in Koolen-de Vries/KANSL1 haploinsufficiency syndrome.
    Title: Adult phenotype in Koolen-de Vries/KANSL1 haploinsufficiency syndrome.
  4. Analysis in epithelial ovarian cancer identifies KANSL1 as a biomarker and target gene for immune response and HDAC inhibition.
    Title: Analysis in epithelial ovarian cancer identifies KANSL1 as a biomarker and target gene for immune response and HDAC inhibition.
  5. These results show that a KANSL1 microduplication, in combination with the 22q11.2 deletion, is associated with increased risk of CHD in these patients, suggesting that KANSL1 plays a role as a modifier gene in 22q11.2DS patients.
    Title: Partial microduplication in the histone acetyltransferase complex member KANSL1 is associated with congenital heart defects in 22q11.2 microdeletion syndrome patients.
  6. One variant, p.Lys104Thr, was predicted damaging and appeared overrepresented in our 90-patient cohort compared to Genome Aggregation Database allele frequency (0.217 to 0.116). However, there was no difference in p.Lys104Thr allele frequency in the follow-up childhood epilepsy with centrotemporal spikes (CECTS) and atypical childhood epilepsy with centrotemporal spikes (ACECTS) cohort and controls.
    Title: KANSL1 variation is not a major contributing factor in self-limited focal epilepsy syndromes of childhood.
  7. This case expands the mild end of the neurodevelopmental spectrum seen in children with de novo KANSL1 mutation and KdVS.
    Title: 10-year-old female with intragenic KANSL1 mutation, no KANSL1-related intellectual disability, and preserved verbal intelligence.
  8. In KANSL1 haploinsufficiency syndrome, chromosome deletions are greatly prevalent compared with KANSL1 mutations.
    Title: Intragenic KANSL1 mutations and chromosome 17q21.31 deletions: broadening the clinical spectrum and genotype-phenotype correlations in a large cohort of patients.
  9. essential for mitotic spindle assembly and chromosome segregation
    Title: An epigenetic regulator emerges as microtubule minus-end binding and stabilizing factor in mitosis.
  10. KANSL1 gene haploinsufficiency is necessary and sufficient to cause the full spectrum of the 17q21.31 microdeletion syndrome.
    Title: KANSL1 gene disruption associated with the full clinical spectrum of 17q21.31 microdeletion syndrome.
Submit: New GeneRIF Correction See all GeneRIFs (12)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

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, 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 
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 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

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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)

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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.

Genomic

  1. NG_032784.1 RefSeqGene

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

mRNA and Protein(s)

  1. NM_001193465.2 → NP_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:885 → 997
    PEHE; PEHE domain

  2. NM_001193466.2 → NP_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:885 → 1003
    PEHE; PEHE domain

  3. NM_001379198.1 → NP_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:885 → 1003
    PEHE; PEHE domain

  4. NM_001405854.1 → NP_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

  5. NM_001405855.1 → NP_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

  6. NM_001405856.1 → NP_001392785.1  KAT8 regulatory NSL complex subunit 1 isoform 2

    Status: REVIEWED

    Source sequence(s)
    AC217773, CR936218, KF495991
    Consensus CDS
    CCDS74084.1
    UniProtKB/TrEMBL
    A0A9S7M8F4

  7. NM_001405857.1 → NP_001392786.1  KAT8 regulatory NSL complex subunit 1 isoform 2

    Status: REVIEWED

    Source sequence(s)
    AC217773, CR936218, KF495991
    UniProtKB/TrEMBL
    A0A9S7M8F4

  8. NM_001405858.1 → NP_001392787.1  KAT8 regulatory NSL complex subunit 1 isoform 2

    Status: REVIEWED

    Source sequence(s)
    AC217773, CR936218, KF495991
    UniProtKB/TrEMBL
    A0A9S7M8F4

  9. NM_001405859.1 → NP_001392788.1  KAT8 regulatory NSL complex subunit 1 isoform 3

    Status: REVIEWED

    Source sequence(s)
    AC217773, CR936218, KF495991

  10. NM_001405860.1 → NP_001392789.1  KAT8 regulatory NSL complex subunit 1 isoform 3

    Status: REVIEWED

    Source sequence(s)
    AC217773, CR936218, KF495991

  11. NM_001405861.1 → NP_001392790.1  KAT8 regulatory NSL complex subunit 1 isoform 4

    Status: REVIEWED

    Source sequence(s)
    AC217773, CR936218, KF495991

  12. NM_001405872.1 → NP_001392801.1  KAT8 regulatory NSL complex subunit 1 isoform 5

    Status: REVIEWED

    Source sequence(s)
    AC217773, CR936218, KF495991
    UniProtKB/TrEMBL
    A0A3B3IT55
    Related
    ENSP00000497628.1, ENST00000648792.1

  13. NM_001405873.1 → NP_001392802.1  KAT8 regulatory NSL complex subunit 1 isoform 5

    Status: REVIEWED

    Source sequence(s)
    AC217773, CR936218, KF495991
    UniProtKB/TrEMBL
    A0A3B3IT55

  14. NM_001405874.1 → NP_001392803.1  KAT8 regulatory NSL complex subunit 1 isoform 5

    Status: REVIEWED

    Source sequence(s)
    AC217773, CR936218, KF495991
    UniProtKB/TrEMBL
    A0A3B3IT55

  15. NM_001405875.1 → NP_001392804.1  KAT8 regulatory NSL complex subunit 1 isoform 6

    Status: REVIEWED

    Source sequence(s)
    AC217773, CR936218, KF495991

  16. NM_001405876.1 → NP_001392805.1  KAT8 regulatory NSL complex subunit 1 isoform 6

    Status: REVIEWED

    Source sequence(s)
    AC217773, CR936218, KF495991

  17. NM_001405877.1 → NP_001392806.1  KAT8 regulatory NSL complex subunit 1 isoform 6

    Status: REVIEWED

    Source sequence(s)
    AC217773, CR936218, KF495991

  18. NM_001405878.1 → NP_001392807.1  KAT8 regulatory NSL complex subunit 1 isoform 6

    Status: REVIEWED

    Source sequence(s)
    AC217773, CR936218, KF495991
    Related
    ENSP00000491765.1, ENST00000639531.1

  19. NM_001405879.1 → NP_001392808.1  KAT8 regulatory NSL complex subunit 1 isoform 7

    Status: REVIEWED

    Source sequence(s)
    AC217773, CR936218, KF495991
    Consensus CDS
    CCDS92348.1
    UniProtKB/TrEMBL
    A0A1W2PRB5
    Related
    ENSP00000461299.1, ENST00000575318.6

  20. NM_001405880.1 → NP_001392809.1  KAT8 regulatory NSL complex subunit 1 isoform 7

    Status: REVIEWED

    Source sequence(s)
    AC217773, CR936218, KF495991
    UniProtKB/TrEMBL
    A0A1W2PRB5
    Related
    ENSP00000492576.1, ENST00000638275.1

  21. NM_001405881.1 → NP_001392810.1  KAT8 regulatory NSL complex subunit 1 isoform 8

    Status: REVIEWED

    Source sequence(s)
    AC217773, CR936218, KF495991

  22. NM_001405882.1 → NP_001392811.1  KAT8 regulatory NSL complex subunit 1 isoform 9

    Status: REVIEWED

    Source sequence(s)
    AC217773, CR936218, KF495991

  23. NM_001405883.1 → NP_001392812.1  KAT8 regulatory NSL complex subunit 1 isoform 10

    Status: REVIEWED

    Source sequence(s)
    AC217773, CR936218, KF495991

  24. NM_001405884.1 → NP_001392813.1  KAT8 regulatory NSL complex subunit 1 isoform 11

    Status: REVIEWED

    Source sequence(s)
    AC217773, CR936218, KF495991

  25. NM_001405885.1 → NP_001392814.1  KAT8 regulatory NSL complex subunit 1 isoform 12

    Status: REVIEWED

    Source sequence(s)
    AC217773, CR936218, KF495991

  26. NM_015443.4 → NP_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:885 → 1003
    PEHE; PEHE domain

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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_047435800.1 → XP_047291756.1  KAT8 regulatory NSL complex subunit 1 isoform X3

  2. XM_047435801.1 → XP_047291757.1  KAT8 regulatory NSL complex subunit 1 isoform X4

  3. XM_011524628.4 → XP_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:885 → 997
    PEHE; PEHE domain

  4. XM_047435794.1 → XP_047291750.1  KAT8 regulatory NSL complex subunit 1 isoform X1

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

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_054328563.1 → XP_054184538.1  KAT8 regulatory NSL complex subunit 1 isoform X4

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

  3. XM_054328560.1 → XP_054184535.1  KAT8 regulatory NSL complex subunit 1 isoform X2

  4. XM_054328561.1 → XP_054184536.1  KAT8 regulatory NSL complex subunit 1 isoform X5

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_054330103.1 → XP_054186078.1  KAT8 regulatory NSL complex subunit 1 isoform X3

  2. XM_054330104.1 → XP_054186079.1  KAT8 regulatory NSL complex subunit 1 isoform X4

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

    UniProtKB/TrEMBL
    A0A0G2JNT7

  4. XM_054330102.1 → XP_054186077.1  KAT8 regulatory NSL complex subunit 1 isoform X6

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_054315778.1 → XP_054171753.1  KAT8 regulatory NSL complex subunit 1 isoform X3

  2. XM_054315779.1 → XP_054171754.1  KAT8 regulatory NSL complex subunit 1 isoform X4

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

  4. XM_054315775.1 → XP_054171750.1  KAT8 regulatory NSL complex subunit 1 isoform X2

    UniProtKB/TrEMBL
    A0A0G2JNB1

  5. XM_054315774.1 → XP_054171749.1  KAT8 regulatory NSL complex subunit 1 isoform X1

    UniProtKB/TrEMBL
    A0A0G2JNT7

  6. XM_054315776.1 → XP_054171751.1  KAT8 regulatory NSL complex subunit 1 isoform X6

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q7Z3B3.3 GenPept UniProtKB/Swiss-Prot:Q7Z3B3

Gene LinkOut

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