KANSL1 (KAT8 regulatory NSL complex subunit 1)

2014-08-01  

Identity

HGNC
LOCATION
17q21.31
LOCUSID
ALIAS
CENP-36,KDVS,KIAA1267,MSL1v1,NSL1,hMSL1v1
FUSION GENES

Other Information

Locus ID:

NCBI: 284058
MIM: 612452
HGNC: 24565
Ensembl: ENSG00000120071

Variants:

dbSNP: 284058
ClinVar: 284058
TCGA: ENSG00000120071
COSMIC: KANSL1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000120071ENST00000262419Q7Z3B3
ENSG00000120071ENST00000262419A0A024R9Y2
ENSG00000120071ENST00000432791Q7Z3B3
ENSG00000120071ENST00000432791A0A024R9Y2
ENSG00000120071ENST00000571698I3L233
ENSG00000120071ENST00000572904Q7Z3B3
ENSG00000120071ENST00000572904A0A024R9Y2
ENSG00000120071ENST00000574590Q7Z3B3
ENSG00000120071ENST00000576739A0A0G2JQP8
ENSG00000120071ENST00000638275A0A1W2PRB5
ENSG00000120071ENST00000639150A0A1W2PQT4
ENSG00000120071ENST00000639467A0A1W2PS83
ENSG00000120071ENST00000639531A0A1W2PPV8
ENSG00000120071ENST00000639853A0A1W2PRR3
ENSG00000120071ENST00000640636A0A1W2PRA9
ENSG00000120071ENST00000648792A0A3B3IT55

Expression (GTEx)

0
5
10
15
20
25
30
35

Pathways

PathwaySourceExternal ID
Chromatin organizationREACTOMER-HSA-4839726
Chromatin modifying enzymesREACTOMER-HSA-3247509
HATs acetylate histonesREACTOMER-HSA-3214847

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
185090942008Haplotypes and gene expression implicate the MAPT region for Parkinson disease: the GenePD Study.34
262431462015An epigenetic regulator emerges as microtubule minus-end binding and stabilizing factor in mitosis.17
225443672012Mutations in KANSL1 cause the 17q21.31 microdeletion syndrome phenotype.0
262935992015KANSL1 gene disruption associated with the full clinical spectrum of 17q21.31 microdeletion syndrome.0
264241442015Intragenic KANSL1 mutations and chromosome 17q21.31 deletions: broadening the clinical spectrum and genotype-phenotype correlations in a large cohort of patients.0
28211987201710-year-old female with intragenic KANSL1 mutation, no KANSL1-related intellectual disability, and preserved verbal intelligence.0
284961022017Partial microduplication in the histone acetyltransferase complex member KANSL1 is associated with congenital heart defects in 22q11.2 microdeletion syndrome patients.0
293523162018KANSL1 variation is not a major contributing factor in self-limited focal epilepsy syndromes of childhood.0

Citation

Dessen P

KANSL1 (KAT8 regulatory NSL complex subunit 1)

Atlas Genet Cytogenet Oncol Haematol. 2014-08-01

Online version: http://atlasgeneticsoncology.org/gene/54391/kansl1