Human Gene KANSL1 (ENST00000572904.6) from GENCODE V44
  Description: Homo sapiens KAT8 regulatory NSL complex subunit 1 (KANSL1), transcript variant 4, mRNA. (from RefSeq NM_001379198)
RefSeq Summary (NM_001379198): 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].
Gencode Transcript: ENST00000572904.6
Gencode Gene: ENSG00000120071.15
Transcript (Including UTRs)
   Position: hg38 chr17:46,029,916-46,223,676 Size: 193,761 Total Exon Count: 15 Strand: -
Coding Region
   Position: hg38 chr17:46,031,476-46,172,143 Size: 140,668 Coding Exon Count: 14 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesGeneReviewsMethods
Data last updated at UCSC: 2023-08-18 00:09:47

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr17:46,029,916-46,223,676)mRNA (may differ from genome)Protein (1105 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGencodeGeneCards
HGNCHPRDLynxMalacardsMGImyGene2
neXtProtOMIMPubMedReactomeUniProtKBWikipedia
BioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: KANL1_HUMAN
DESCRIPTION: RecName: Full=KAT8 regulatory NSL complex subunit 1; AltName: Full=MLL1/MLL complex subunit KANSL1; AltName: Full=MSL1 homolog 1; Short=hMSL1v1; AltName: Full=NSL complex protein NSL1; AltName: Full=Non-specific lethal 1 homolog;
FUNCTION: As part of the NSL complex it is involved in acetylation of nucleosomal histone H4 on several lysine residues and therefore may be involved in the regulation of transcription.
SUBUNIT: Component of some MLL1/MLL complex, at least composed of the core components MLL, ASH2L, HCFC1, WDR5 and RBBP5, as well as the facultative components C17orf49, CHD8, E2F6, HSP70, INO80C, KANSL1, LAS1L, MAX, MCRS1, MGA, KAT8/MOF, PELP1, PHF20, PRP31, RING2, RUVB1/TIP49A, RUVB2/TIP49B, SENP3, TAF1, TAF4, TAF6, TAF7, TAF9 and TEX10. Component of the NSL complex at least composed of MOF/KAT8, KANSL1, KANSL2, KANSL3, MCRS1, PHF20, OGT1/OGT, WDR5 and HCFC1. Interacts with KAT8; the interaction is direct.
INTERACTION: Q15834:CCDC85B; NbExp=2; IntAct=EBI-740244, EBI-739674;
SUBCELLULAR LOCATION: Nucleus.
TISSUE SPECIFICITY: Expressed in the brain.
SEQUENCE CAUTION: Sequence=CAH10565.1; Type=Erroneous initiation; Note=Translation N-terminally extended;

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: KANSL1
Diseases sorted by gene-association score: koolen-de vries syndrome* (1044), koolen-de vries syndrome due to a point mutation* (350), chromosome 17q21.31 duplication syndrome (13), mental retardation, x-linked syndromic, christianson type (9), chromosomal duplication syndrome (7)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 20.58 RPKM in Brain - Cerebellar Hemisphere
Total median expression: 554.05 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -42.2095-0.444 Picture PostScript Text
3' UTR -419.501560-0.269 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR026180 - NSL1

ModBase Predicted Comparative 3D Structure on Q7Z3B3
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGIRGD    
Protein SequenceProtein Sequence    
AlignmentAlignment    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005515 protein binding
GO:0043995 histone acetyltransferase activity (H4-K5 specific)
GO:0043996 histone acetyltransferase activity (H4-K8 specific)
GO:0046972 histone acetyltransferase activity (H4-K16 specific)

Biological Process:
GO:0006325 chromatin organization
GO:0043981 histone H4-K5 acetylation
GO:0043982 histone H4-K8 acetylation
GO:0043984 histone H4-K16 acetylation

Cellular Component:
GO:0000123 histone acetyltransferase complex
GO:0000775 chromosome, centromeric region
GO:0000776 kinetochore
GO:0000777 condensed chromosome kinetochore
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005694 chromosome
GO:0071339 MLL1 complex


-  Descriptions from all associated GenBank mRNAs
  BX538006 - Homo sapiens mRNA; cDNA DKFZp686L2032 (from clone DKFZp686L2032); complete cds.
BC098376 - Homo sapiens KIAA1267, mRNA (cDNA clone MGC:102843 IMAGE:6181132), complete cds.
AB033093 - Homo sapiens KIAA1267 mRNA for KIAA1267 protein.
AK291259 - Homo sapiens cDNA FLJ75062 complete cds.
AB384164 - Synthetic construct DNA, clone: pF1KSDA1267, Homo sapiens KIAA1267 gene for KIAA1267 protein, complete cds, without stop codon, in Flexi system.
AM392814 - Synthetic construct Homo sapiens clone IMAGE:100002182 for hypothetical protein (KIAA1267 gene).
AM393686 - Synthetic construct Homo sapiens clone IMAGE:100002181 for hypothetical protein (KIAA1267 gene).
KJ904118 - Synthetic construct Homo sapiens clone ccsbBroadEn_13512 KANSL1 gene, encodes complete protein.
BC006271 - Homo sapiens KIAA1267, mRNA (cDNA clone IMAGE:3948445), **** WARNING: chimeric clone ****.
BX648760 - Homo sapiens mRNA; cDNA DKFZp686P06109 (from clone DKFZp686P06109).
BC035892 - Homo sapiens KIAA1267, mRNA (cDNA clone IMAGE:5212381), partial cds.
AL137317 - Homo sapiens mRNA; cDNA DKFZp434K031 (from clone DKFZp434K031); partial cds.
AK094946 - Homo sapiens cDNA FLJ37627 fis, clone BRCOC2014833.
AL117476 - Homo sapiens mRNA; cDNA DKFZp727C091 (from clone DKFZp727C091).
JD292158 - Sequence 273182 from Patent EP1572962.
JD303670 - Sequence 284694 from Patent EP1572962.
JD259766 - Sequence 240790 from Patent EP1572962.
JD561965 - Sequence 542989 from Patent EP1572962.
JD431724 - Sequence 412748 from Patent EP1572962.
JD253642 - Sequence 234666 from Patent EP1572962.
JD220868 - Sequence 201892 from Patent EP1572962.
JD299389 - Sequence 280413 from Patent EP1572962.
JD486323 - Sequence 467347 from Patent EP1572962.
JD543919 - Sequence 524943 from Patent EP1572962.
JD307000 - Sequence 288024 from Patent EP1572962.
JD269221 - Sequence 250245 from Patent EP1572962.
JD110003 - Sequence 91027 from Patent EP1572962.
JD498062 - Sequence 479086 from Patent EP1572962.
JD239788 - Sequence 220812 from Patent EP1572962.
AK310569 - Homo sapiens cDNA, FLJ17611.
JD508140 - Sequence 489164 from Patent EP1572962.
JD211991 - Sequence 193015 from Patent EP1572962.
JD111707 - Sequence 92731 from Patent EP1572962.
JD466143 - Sequence 447167 from Patent EP1572962.
JD274420 - Sequence 255444 from Patent EP1572962.
JD182348 - Sequence 163372 from Patent EP1572962.
JD173967 - Sequence 154991 from Patent EP1572962.
DQ589951 - Homo sapiens piRNA piR-57063, complete sequence.
DQ586706 - Homo sapiens piRNA piR-53818, complete sequence.
CU675319 - Synthetic construct Homo sapiens gateway clone IMAGE:100019615 5' read KIAA1267 mRNA.
JD459309 - Sequence 440333 from Patent EP1572962.
JD259657 - Sequence 240681 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein Q7Z3B3 (Reactome details) participates in the following event(s):

R-HSA-3321805 NSL acetylates histone H4
R-HSA-3214847 HATs acetylate histones
R-HSA-3247509 Chromatin modifying enzymes
R-HSA-4839726 Chromatin organization

-  Other Names for This Gene
  Alternate Gene Symbols: A8K5E4, ENST00000572904.1, ENST00000572904.2, ENST00000572904.3, ENST00000572904.4, ENST00000572904.5, KANL1_HUMAN, KIAA1267, MSL1V1, NM_001379198, NSL1, Q6AW85, Q7Z3B3, Q8IYH1, Q9BRH0, Q9NTE7, Q9UFT0, Q9ULF3, uc060gju.1, uc060gju.2
UCSC ID: ENST00000572904.6
RefSeq Accession: NM_001379198
Protein: Q7Z3B3 (aka KANL1_HUMAN)
CCDS: CCDS11503.2, CCDS74084.1

-  GeneReviews for This Gene
  GeneReviews article(s) related to gene KANSL1:
mdel17q21_31 (Koolen-de Vries Syndrome)

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.