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Aliases for KANSL1 Gene

Aliases for KANSL1 Gene

  • KAT8 Regulatory NSL Complex Subunit 1 2 3 5
  • KIAA1267 2 3 4
  • MLL1/MLL Complex Subunit KANSL1 3 4
  • Non-Specific Lethal 1 Homolog 3 4
  • NSL Complex Protein NSL1 3 4
  • Centromere Protein 36 2 3
  • MSL1 Homolog 1 3 4
  • CENP-36 3 4
  • HMSL1v1 3 4
  • MSL1v1 3 4
  • NSL1 3 4
  • Male-Specific Lethal 1 Homolog 3
  • KDVS 3

External Ids for KANSL1 Gene

Previous HGNC Symbols for KANSL1 Gene

  • KIAA1267

Previous GeneCards Identifiers for KANSL1 Gene

  • GC17M044108

Summaries for KANSL1 Gene

Entrez Gene Summary for KANSL1 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 subunit of both the MLL1 and NSL1 complexes. [provided by RefSeq, Jun 2012]

GeneCards Summary for KANSL1 Gene

KANSL1 (KAT8 Regulatory NSL Complex Subunit 1) is a Protein Coding gene. Diseases associated with KANSL1 include koolen-de vries syndrome and koolen-de vries syndrome due to a point mutation. Among its related pathways are Signaling by GPCR and Signaling by Rho GTPases. GO annotations related to this gene include histone acetyltransferase activity (H4-K5 specific) and histone acetyltransferase activity (H4-K16 specific). An important paralog of this gene is KANSL1L.

UniProtKB/Swiss-Prot for KANSL1 Gene

  • 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.

Gene Wiki entry for KANSL1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for KANSL1 Gene

Genomics for KANSL1 Gene

Regulatory Elements for KANSL1 Gene

Promoters for KANSL1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around KANSL1 on UCSC Golden Path with GeneCards custom track

Genomic Location for KANSL1 Gene

Chromosome:
17
Start:
46,029,916 bp from pter
End:
46,225,374 bp from pter
Size:
195,459 bases
Orientation:
Minus strand

Genomic View for KANSL1 Gene

Genes around KANSL1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
KANSL1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for KANSL1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for KANSL1 Gene

Proteins for KANSL1 Gene

  • Protein details for KANSL1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q7Z3B3-KANL1_HUMAN
    Recommended name:
    KAT8 regulatory NSL complex subunit 1
    Protein Accession:
    Q7Z3B3
    Secondary Accessions:
    • A8K5E4
    • Q6AW85
    • Q8IYH1
    • Q9BRH0
    • Q9NTE7
    • Q9UFT0
    • Q9ULF3

    Protein attributes for KANSL1 Gene

    Size:
    1105 amino acids
    Molecular mass:
    121025 Da
    Quaternary structure:
    • Component of some MLL1/MLL complex, at least composed of the core components KMT2A/MLL1, ASH2L, HCFC1, WDR5 and RBBP5, as well as the facultative components BAP18, 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.
    SequenceCaution:
    • Sequence=CAH10565.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for KANSL1 Gene

    Alternative splice isoforms for KANSL1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for KANSL1 Gene

Proteomics data for KANSL1 Gene at MOPED

Post-translational modifications for KANSL1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for KANSL1 Gene

Domains & Families for KANSL1 Gene

Protein Domains for KANSL1 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for KANSL1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with KANSL1: view

No data available for Gene Families and UniProtKB/Swiss-Prot for KANSL1 Gene

Function for KANSL1 Gene

Molecular function for KANSL1 Gene

UniProtKB/Swiss-Prot 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.
genes like me logo Genes that share phenotypes with KANSL1: view

Human Phenotype Ontology for KANSL1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

miRNA for KANSL1 Gene

miRTarBase miRNAs that target KANSL1

Inhibitory RNA Products

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Animal Models , Transcription Factor Targets and HOMER Transcription for KANSL1 Gene

Localization for KANSL1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for KANSL1 Gene

Nucleus. Nucleus. Chromosome, centromere, kinetochore.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for KANSL1 Gene COMPARTMENTS Subcellular localization image for KANSL1 gene
Compartment Confidence
nucleus 5
cytosol 3
cytoskeleton 2

Gene Ontology (GO) - Cellular Components for KANSL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000123 histone acetyltransferase complex IDA 20018852
GO:0000777 condensed chromosome kinetochore IEA --
genes like me logo Genes that share ontologies with KANSL1: view

Pathways & Interactions for KANSL1 Gene

genes like me logo Genes that share pathways with KANSL1: view

Pathways by source for KANSL1 Gene

Gene Ontology (GO) - Biological Process for KANSL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0043982 histone H4-K8 acetylation IDA 20018852
genes like me logo Genes that share ontologies with KANSL1: view

No data available for SIGNOR curated interactions for KANSL1 Gene

Drugs & Compounds for KANSL1 Gene

No Compound Related Data Available

Transcripts for KANSL1 Gene

Unigene Clusters for KANSL1 Gene

KAT8 regulatory NSL complex subunit 1:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for KANSL1 Gene

ExUns: 1 ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6 ^ 7 ^ 8a · 8b · 8c ^ 9a · 9b · 9c ^ 10a · 10b · 10c ^ 11a · 11b ^ 12 ^ 13 ^ 14 ^ 15 ^ 16
SP1: - - - - - -
SP2: - - - - -
SP3: - - - -
SP4:
SP5: - - - - -
SP6: -
SP7:

Relevant External Links for KANSL1 Gene

GeneLoc Exon Structure for
KANSL1
ECgene alternative splicing isoforms for
KANSL1

Expression for KANSL1 Gene

mRNA expression in normal human tissues for KANSL1 Gene

Protein differential expression in normal tissues from HIPED for KANSL1 Gene

This gene is overexpressed in Urine (33.3), Peripheral blood mononuclear cells (11.4), CD8 Tcells (9.4), and Heart (7.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for KANSL1 Gene



SOURCE GeneReport for Unigene cluster for KANSL1 Gene Hs.648744

mRNA Expression by UniProt/SwissProt for KANSL1 Gene

Q7Z3B3-KANL1_HUMAN
Tissue specificity: Expressed in the brain.
genes like me logo Genes that share expression patterns with KANSL1: view

Protein tissue co-expression partners for KANSL1 Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for KANSL1 Gene

Orthologs for KANSL1 Gene

This gene was present in the common ancestor of animals.

Orthologs for KANSL1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia KANSL1 35
  • 99.67 (n)
  • 99.64 (a)
KANSL1 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia KANSL1 36
  • 94 (a)
OneToOne
KANSL1 35
  • 91.98 (n)
  • 94.46 (a)
dog
(Canis familiaris)
Mammalia KANSL1 35
  • 93.44 (n)
  • 95.1 (a)
KANSL1 36
  • 95 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Kansl1 16
Kansl1 36
  • 92 (a)
OneToOne
Kansl1 35
  • 90.52 (n)
  • 92.03 (a)
oppossum
(Monodelphis domestica)
Mammalia KANSL1 36
  • 85 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia KANSL1 36
  • 58 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Kansl1 35
  • 88.72 (n)
  • 89.83 (a)
chicken
(Gallus gallus)
Aves KANSL1 36
  • 74 (a)
OneToOne
KANSL1 35
  • 74.38 (n)
  • 76.76 (a)
lizard
(Anolis carolinensis)
Reptilia KANSL1 36
  • 71 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.2848 35
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100485168 35
  • 54.89 (n)
  • 50.71 (a)
zebrafish
(Danio rerio)
Actinopterygii kansl1b 36
  • 43 (a)
OneToMany
kansl1a 36
  • 39 (a)
OneToMany
KANSL1 (1 of 3) 36
  • 28 (a)
OneToMany
LOC567884 35
  • 55.48 (n)
  • 50.35 (a)
fruit fly
(Drosophila melanogaster)
Insecta wah 36
  • 14 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 18 (a)
OneToMany
Species with no ortholog for KANSL1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for KANSL1 Gene

ENSEMBL:
Gene Tree for KANSL1 (if available)
TreeFam:
Gene Tree for KANSL1 (if available)

Paralogs for KANSL1 Gene

Paralogs for KANSL1 Gene

(2) SIMAP similar genes for KANSL1 Gene using alignment to 4 proteins:

Pseudogenes.org Pseudogenes for KANSL1 Gene

genes like me logo Genes that share paralogs with KANSL1: view

Variants for KANSL1 Gene

Sequence variations from dbSNP and Humsavar for KANSL1 Gene

SNP ID Clin Chr 17 pos Sequence Context AA Info Type
rs666494 -- 46,217,296(-) gtttc(A/T)ccaca intron-variant
rs666939 -- 46,217,183(-) atccc(A/G)tctct intron-variant
rs1076222 -- 46,032,403(+) ACAAA(C/G)ACCAA intron-variant
rs449332 -- 46,221,832(+) AATTA(A/G)GTAGC intron-variant
rs1528074 -- 46,156,694(-) CTGAG(C/T)TCCTT intron-variant

Variation tolerance for KANSL1 Gene

Residual Variation Intolerance Score: 76.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 15.71; 97.32% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for KANSL1 Gene

HapMap Linkage Disequilibrium report
KANSL1
Human Gene Mutation Database (HGMD)
KANSL1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for KANSL1 Gene

Disorders for KANSL1 Gene

MalaCards: The human disease database

(6) MalaCards diseases for KANSL1 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, and DISEASES

Disorder Aliases PubMed IDs
koolen-de vries syndrome
  • koolen de vries syndrome
koolen-de vries syndrome due to a point mutation
spinocerebellar ataxia 40
  • spinocerebellar ataxia type 40
smooth muscle tumor
  • smooth muscle tumor nos
kleefstra syndrome
  • 9q subtelomeric deletion syndrome
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for KANSL1

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
KANSL1
genes like me logo Genes that share disorders with KANSL1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for KANSL1 Gene

Publications for KANSL1 Gene

  1. Prediction of the coding sequences of unidentified human genes. XV. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PMID: 10574462) Nagase T. … Ohara O. (DNA Res. 1999) 2 3 4 67
  2. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3
  3. The functional landscape of Hsp27 reveals new cellular processes such as DNA repair and alternative splicing and proposes novel anticancer targets. (PMID: 25277244) Katsogiannou M. … Rocchi P. (Mol. Cell Proteomics 2014) 3
  4. A proteome-scale map of the human interactome network. (PMID: 25416956) Rolland T. … Vidal M. (Cell 2014) 3
  5. Genome-wide mapping of IBD segments in an Ashkenazi PD cohort identifies associated haplotypes. (PMID: 24842889) Vacic V. … Orr-Urtreger A. (Hum. Mol. Genet. 2014) 3

Products for KANSL1 Gene

Sources for KANSL1 Gene

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