Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
284058
Gene name Gene Name - the full gene name approved by the HGNC.
KAT8 regulatory NSL complex subunit 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
KANSL1
Synonyms (NCBI Gene) Gene synonyms aliases
C17DELq21.31, CENP-36, DEL17Q21.31, KDVS, KIAA1267, MSL1v1, NSL1, hMSL1v1
Chromosome Chromosome number
17
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
17q21.31
Summary Summary of gene provided in NCBI Entrez Gene.
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
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs34878385 C>-,CC Likely-pathogenic Intron variant, frameshift variant, coding sequence variant
rs149830411 G>A Uncertain-significance, pathogenic Stop gained, genic upstream transcript variant, upstream transcript variant, coding sequence variant
rs186818985 T>C Conflicting-interpretations-of-pathogenicity, benign Intron variant, genic downstream transcript variant
rs281865468 G>A Pathogenic Stop gained, upstream transcript variant, genic upstream transcript variant, coding sequence variant
rs281865469 G>A,C Pathogenic Stop gained, coding sequence variant, missense variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT020287 hsa-miR-130b-3p Sequencing 20371350
MIRT025982 hsa-miR-148a-3p Sequencing 20371350
MIRT050951 hsa-miR-17-5p CLASH 23622248
MIRT046344 hsa-miR-23b-3p CLASH 23622248
MIRT045617 hsa-miR-149-5p CLASH 23622248
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000123 Component Histone acetyltransferase complex IDA 20018852
GO:0000123 Component Histone acetyltransferase complex IEA
GO:0000775 Component Chromosome, centromeric region IEA
GO:0000776 Component Kinetochore IEA
GO:0000922 Component Spindle pole IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
612452 24565 ENSG00000120071
Protein
UniProt ID Q7Z3B3
Protein name KAT8 regulatory NSL complex subunit 1 (MLL1/MLL complex subunit KANSL1) (MSL1 homolog 1) (hMSL1v1) (NSL complex protein NSL1) (Non-specific lethal 1 homolog)
Protein function Non-catalytic component of the NSL histone acetyltransferase complex, a multiprotein complex that mediates histone H4 acetylation at 'Lys-5'- and 'Lys-8' (H4K5ac and H4K8ac) at transcription start sites and promotes transcription initiation (Pub
PDB 4CY1 , 4CY2
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF15275 PEHE 885 1041 PEHE domain Family
Tissue specificity TISSUE SPECIFICITY: Expressed in the brain. {ECO:0000269|PubMed:11641718}.
Sequence
MAAMAPALTDAAAEAHHIRFKLAPPSSTLSPGSAENNGNANILIAANGTKRKAIAAEDPS
LDFRNNPTKEDLGKLQPLVASYLCSDVTSVPSKESLKLQGVFSKQTVLKSHPLLSQSYEL
RAELLGRQPVLEFSLENLRTMNTSGQTALPQAPVNGLAKKLTKSSTHSDHDNSTSLNGGK
RALTSSALHGGEMGGSESGDLKGGMTNCTLPHRSLDVEHTTLYSNNSTANKSSVNSMEQP
ALQGSSRLSPGTDSSSNLGGVKLEGKKSPLSSILFSALDSDTRITALLRRQADIESRARR
LQKRLQVVQAKQVERHIQHQLGGFLEKTLSKLPNLESLRPRSQLMLTRKAEAALRKAASE
TTTSEGLSNFLKSNSISEELERFTASGIANLRCSEQAFDSDVTDSSSGGESDIEEEELTR
ADPEQRHVPLRRRSEWKWAADRAAIVSRWNWLQAHVSDLEYRIRQQTDIYKQIRANKGLI
VLGEVPPPEHTTDLFLPLSSEVKTDHGTDKLIESVSQPLENHGARIIGHISESLSTKSCG
ALRPVNGVINTLQPVLADHIPGDSSDAEEQLHKKQRLNLVSSSSDGTCVAARTRPVLSCK
KRRLVRPNSIVPLSKKVHRNSTIRPGCDVNPSCALCGSGSINTMPPEIHYEAPLLERLSQ
LDSCVHPVLAFPDDVPTSLHFQSMLKSQWQNKPFDKIKPPKKLSLKHRAPMPGSLPDSAR
KDRHKLVSSFLTTAKLSHHQTRPDRTHRQHLDDVGAVPMVERVTAPKAERLLNPPPPVHD
PNHSKMRLRDHSSERSEVLKHHTDMSSSSYLAATHHPPHSPLVRQLSTSSDSPAPASSSS
QVTASTSQQPVRRRRGESSFDINNIVIPMSVAATTRVEKLQYKEILTPSWREVDLQSLKG
SPDEENEEIEDLSDAAFAALHAKCEEMERARWLWTTSVPPQRRGSRSYRSSDGRTTPQLG
SANPSTPQPASPDVSSSHSLSEYSHGQSPRSPISPELHSAPLTPVARDTPRHLASEDTRC
STPELGLDEQSVQPWERRTFP
LAHSPQAECEDQLDAQERAARCTRRTSGSKTGRETEAAP
TSPPIVPLKSRHLVAAATAQRPTHR
Sequence length 1105
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    HATs acetylate histones
<
Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
koolen-de vries syndrome Koolen-de Vries syndrome rs1057518659, rs1597872089, rs149830411, rs1597874008, rs1555734136, rs1555575816, rs281865469, rs1427624649, rs1555575405, rs281865471, rs748018297, rs281865468, rs1555753569, rs281865470, rs1568366050
View all (2 more)
N/A
Mental retardation intellectual disability rs1427624649 N/A
Developmental Delay global developmental delay rs281865469 N/A
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Breast Cancer Breast cancer N/A N/A GWAS
Diabetes Type 2 diabetes N/A N/A GWAS
Neuroticism Neuroticism N/A N/A GWAS
Pulmonary Fibrosis Idiopathic pulmonary fibrosis N/A N/A GWAS
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Alzheimer Disease Associate 35589863
Atrophy Associate 33554913
Attention Deficit Disorder with Hyperactivity Associate 35052433
Autism Spectrum Disorder Associate 35052433, 37907504
Brain Diseases Associate 26293599
Breast Neoplasms Associate 33503040
Cardiofaciocutaneous syndrome Associate 26293599
Chromosome 17q21.31 Deletion Syndrome Associate 21094706, 29225339, 29352316, 33001864, 33050294, 33603161, 34286667, 35811432
Developmental Disabilities Associate 34286667
DiGeorge Syndrome Associate 28496102