Property Summary

NCBI Gene PubMed Count 31
PubMed Score 11.84
PubTator Score 13.46

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (4)

Disease log2 FC p
osteosarcoma -1.147 0.000
juvenile dermatomyositis 1.005 0.000
spina bifida -1.059 0.028
ovarian cancer -1.200 0.000

Synonym

Accession Q7Z3B3 A8K5E4 Q6AW85 Q8IYH1 Q9BRH0 Q9NTE7 Q9UFT0 Q9ULF3
Symbols KDVS
NSL1
MSL1v1
CENP-36
hMSL1v1
KIAA1267

Gene

PDB

4CY1   4CY2  

Gene RIF (5)

PMID Text
26424144 In KANSL1 haploinsufficiency syndrome, chromosome deletions are greatly prevalent compared with KANSL1 mutations.
26293599 KANSL1 gene haploinsufficiency is necessary and sufficient to cause the full spectrum of the 17q21.31 microdeletion syndrome.
26243146 essential for mitotic spindle assembly and chromosome segregation
22544367 findings show that de novo loss-of-function mutations in KANSL1 cause a full del(17q21.31) phenotype in 2 unrelated individuals that lack deletion at 17q21.31; findings indicate that 17q21.31 deletion syndrome is a monogenic disorder caused by haploinsufficiency of KANSL1
18509094 Observational study of gene-disease association. (HuGE Navigator)

AA Sequence

MAAMAPALTDAAAEAHHIRFKLAPPSSTLSPGSAENNGNANILIAANGTKRKAIAAEDPSLDFRNNPTKE      1 - 70
DLGKLQPLVASYLCSDVTSVPSKESLKLQGVFSKQTVLKSHPLLSQSYELRAELLGRQPVLEFSLENLRT     71 - 140
MNTSGQTALPQAPVNGLAKKLTKSSTHSDHDNSTSLNGGKRALTSSALHGGEMGGSESGDLKGGMTNCTL    141 - 210
PHRSLDVEHTTLYSNNSTANKSSVNSMEQPALQGSSRLSPGTDSSSNLGGVKLEGKKSPLSSILFSALDS    211 - 280
DTRITALLRRQADIESRARRLQKRLQVVQAKQVERHIQHQLGGFLEKTLSKLPNLESLRPRSQLMLTRKA    281 - 350
EAALRKAASETTTSEGLSNFLKSNSISEELERFTASGIANLRCSEQAFDSDVTDSSSGGESDIEEEELTR    351 - 420
ADPEQRHVPLRRRSEWKWAADRAAIVSRWNWLQAHVSDLEYRIRQQTDIYKQIRANKGLIVLGEVPPPEH    421 - 490
TTDLFLPLSSEVKTDHGTDKLIESVSQPLENHGARIIGHISESLSTKSCGALRPVNGVINTLQPVLADHI    491 - 560
PGDSSDAEEQLHKKQRLNLVSSSSDGTCVAARTRPVLSCKKRRLVRPNSIVPLSKKVHRNSTIRPGCDVN    561 - 630
PSCALCGSGSINTMPPEIHYEAPLLERLSQLDSCVHPVLAFPDDVPTSLHFQSMLKSQWQNKPFDKIKPP    631 - 700
KKLSLKHRAPMPGSLPDSARKDRHKLVSSFLTTAKLSHHQTRPDRTHRQHLDDVGAVPMVERVTAPKAER    701 - 770
LLNPPPPVHDPNHSKMRLRDHSSERSEVLKHHTDMSSSSYLAATHHPPHSPLVRQLSTSSDSPAPASSSS    771 - 840
QVTASTSQQPVRRRRGESSFDINNIVIPMSVAATTRVEKLQYKEILTPSWREVDLQSLKGSPDEENEEIE    841 - 910
DLSDAAFAALHAKCEEMERARWLWTTSVPPQRRGSRSYRSSDGRTTPQLGSANPSTPQPASPDVSSSHSL    911 - 980
SEYSHGQSPRSPISPELHSAPLTPVARDTPRHLASEDTRCSTPELGLDEQSVQPWERRTFPLAHSPQAEC    981 - 1050
EDQLDAQERAARCTRRTSGSKTGRETEAAPTSPPIVPLKSRHLVAAATAQRPTHR                  1051 - 1105
//

Text Mined References (44)

PMID Year Title
26424144 2015 Intragenic KANSL1 mutations and chromosome 17q21.31 deletions: broadening the clinical spectrum and genotype-phenotype correlations in a large cohort of patients.
26293599 2015 KANSL1 gene disruption associated with the full clinical spectrum of 17q21.31 microdeletion syndrome.
26243146 2015 An epigenetic regulator emerges as microtubule minus-end binding and stabilizing factor in mitosis.
24842889 2014 Genome-wide mapping of IBD segments in an Ashkenazi PD cohort identifies associated haplotypes.
24788516 2014 Structural analysis of the KANSL1/WDR5/KANSL2 complex reveals that WDR5 is required for efficient assembly and chromatin targeting of the NSL complex.
24429156 2013 Genetic variants associated with idiopathic pulmonary fibrosis susceptibility and mortality: a genome-wide association study.
24275569 2014 An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
23186163 2013 Toward a comprehensive characterization of a human cancer cell phosphoproteome.
22547026 2012 Structural insight into the regulation of MOF in the male-specific lethal complex and the non-specific lethal complex.
22544367 2012 Mutations in KANSL1 cause the 17q21.31 microdeletion syndrome phenotype.
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