Human Gene KANSL1 (uc010wkc.2) Description and Page Index
  Description: Homo sapiens KAT8 regulatory NSL complex subunit 1 (KANSL1), transcript variant 2, mRNA.
RefSeq Summary (NM_015443): 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].
Transcript (Including UTRs)
   Position: hg19 chr17:44,107,282-44,119,280 Size: 11,999 Total Exon Count: 7 Strand: -
Coding Region
   Position: hg19 chr17:44,108,842-44,117,263 Size: 8,422 Coding Exon Count: 7 

Page IndexSequence and LinksMalaCardsCTDGene AllelesRNA-Seq Expression
Microarray ExpressionRNA StructureProtein StructureOther SpeciesmRNA DescriptionsOther Names
GeneReviewsModel InformationMethods
Data last updated: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr17:44,107,282-44,119,280)mRNA (may differ from genome)Protein (373 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaBioGPS
CGAPEnsemblEntrez GeneExonPrimerGeneCardsGeneNetwork
H-INVHGNCLynxMGIOMIMPubMed
Stanford SOURCEUniProtKBWikipedia

-  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

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  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 -506.952017-0.251 Picture PostScript Text
3' UTR -443.511560-0.284 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

Pfam Domains:
PF15275 - PEHE domain

ModBase Predicted Comparative 3D Structure on E9PCT4
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
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene Details     
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-  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).
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.

-  Other Names for This Gene
  Alternate Gene Symbols: AK094946, E9PCT4, E9PCT4_HUMAN, KIAA1267, NM_015443, NP_056258
UCSC ID: uc010wkc.2
RefSeq Accession: NM_015443
Protein: E9PCT4

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

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: AK094946.1
exon count: 7CDS single in 3' UTR: no RNA size: 2854
ORF size: 1122CDS single in intron: no Alignment % ID: 99.68
txCdsPredict score: 1493.50frame shift in genome: no % Coverage: 99.68
has start codon: yes stop codon in genome: no # of Alignments: 2
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 2030# strange splices: 0
Click here for a detailed description of the fields of the table above.

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