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Aliases for KANSL1 Gene

Aliases for KANSL1 Gene

  • KAT8 Regulatory NSL Complex Subunit 1 2 3
  • KIAA1267 2 3 4 6
  • MSL1v1 3 4 6
  • 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
  • KDVS 3 6
  • NSL1 3 4
  • Male-Specific Lethal 1 Homolog 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. Among its related pathways are Cell Cycle, Mitotic and Cell Cycle, Mitotic. 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

Genomic Location for KANSL1 Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for KANSL1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for KANSL1 Gene

No data available for Regulatory Elements 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

Other Protein References for KANSL1 Gene

No data available for DME Specific Peptides for KANSL1 Gene

Domains for KANSL1 Gene

Protein Domains for KANSL1 Gene

InterPro:
ProtoNet:

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 , Suggested Antigen Peptide Sequences 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.

Gene Ontology (GO) - Molecular Function for KANSL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 15960975
GO:0043995 contributes_to histone acetyltransferase activity (H4-K5 specific) IDA 20018852
GO:0043996 contributes_to histone acetyltransferase activity (H4-K8 specific) IDA 20018852
GO:0046972 contributes_to histone acetyltransferase activity (H4-K16 specific) IDA 20018852
genes like me logo Genes that share ontologies with KANSL1: view
genes like me logo Genes that share phenotypes with KANSL1: view

Animal Model Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for KANSL1

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targeting and HOMER Transcription for KANSL1 Gene

Localization for KANSL1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for KANSL1 Gene

Nucleus. Nucleus. Chromosome, centromere, kinetochore.

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 --
GO:0005634 nucleus IDA --
GO:0005654 nucleoplasm TAS --
GO:0071339 MLL1 complex IDA 15960975
genes like me logo Genes that share ontologies with KANSL1: view

No data available for Subcellular locations from COMPARTMENTS for KANSL1 Gene

Pathways 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:0006325 chromatin organization TAS --
GO:0043981 histone H4-K5 acetylation IDA 20018852
GO:0043982 histone H4-K8 acetylation IDA 20018852
GO:0043984 histone H4-K16 acetylation IDA 20018852
genes like me logo Genes that share ontologies with KANSL1: view

Transcripts for KANSL1 Gene

Unigene Clusters for KANSL1 Gene

KAT8 regulatory NSL complex subunit 1:
Representative Sequences:

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for KANSL1

Primer Products

  • QuantiTect SYBR Green Assays in human,mouse,rat
  • Pre-validated RT² qPCR Primer Assay in human,mouse,rat
  • QuantiFast Probe-based Assays in human,mouse,rat

Flow Cytometry Products

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 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 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 expressions with KANSL1: view

Expression partners for KANSL1 Gene

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
cow
(Bos Taurus)
Mammalia KANSL1 35
  • 91.98 (n)
  • 94.46 (a)
KANSL1 36
  • 94 (a)
OneToOne
dog
(Canis familiaris)
Mammalia KANSL1 35
  • 93.44 (n)
  • 95.1 (a)
KANSL1 36
  • 95 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Kansl1 35
  • 90.52 (n)
  • 92.03 (a)
Kansl1 16
Kansl1 36
  • 92 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia KANSL1 35
  • 99.67 (n)
  • 99.64 (a)
KANSL1 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Kansl1 35
  • 88.72 (n)
  • 89.83 (a)
oppossum
(Monodelphis domestica)
Mammalia KANSL1 36
  • 85 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia KANSL1 36
  • 58 (a)
OneToOne
chicken
(Gallus gallus)
Aves KANSL1 35
  • 74.38 (n)
  • 76.76 (a)
KANSL1 36
  • 74 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia KANSL1 36
  • 71 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100485168 35
  • 54.89 (n)
  • 50.71 (a)
African clawed frog
(Xenopus laevis)
Amphibia Xl.2848 35
zebrafish
(Danio rerio)
Actinopterygii LOC567884 35
  • 55.48 (n)
  • 50.35 (a)
KANSL1 (1 of 3) 36
  • 28 (a)
OneToMany
kansl1a 36
  • 39 (a)
OneToMany
kansl1b 36
  • 43 (a)
OneToMany
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

Selected 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 MAF
rs1815 -- 46,199,212(+) AAAGC(C/T)GGAAT intron-variant
rs1816 -- 46,199,252(+) TTCCC(A/G)CTTCT intron-variant
rs2838 -- 46,063,981(+) TTGAC(A/G)GTAAT intron-variant
rs3089 -- 46,132,553(+) CAAAT(C/G)TGCGC intron-variant
rs430789 -- 46,217,791(-) tgcct(C/T)ggcct intron-variant

Relevant External Links for KANSL1 Gene

HapMap Linkage Disequilibrium report
KANSL1
Human Gene Mutation Database (HGMD)
KANSL1
Locus Specific Mutation Databases (LSDB)
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

MalaCards: The human disease database.

Search for KANSL1 Gene in MalaCards »

(1) Diseases for KANSL1 Gene including...

(1) OMIM Diseases for KANSL1 Gene (612452)

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

No data available for UniProtKB/Swiss-Prot , University of Copenhagen DISEASES , Novoseek inferred disease relationships , Genatlas and External Links 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
  2. A genomic sequence analysis of the mouse and human microtubule- associated protein tau. (PMID: 11641718) Poorkaj P. … Schellenberg G.D. (Mamm. Genome 2001) 3 4
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4
  5. Physical association and coordinate function of the H3 K4 methyltransferase MLL1 and the H4 K16 acetyltransferase MOF. (PMID: 15960975) Dou Y. … Roeder R.G. (Cell 2005) 3 4

Products for KANSL1 Gene

Sources for KANSL1 Gene

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