Aliases for KANSL3 Gene

Aliases for KANSL3 Gene

  • KAT8 Regulatory NSL Complex Subunit 3 2 3 4 5
  • KIAA1310 2 3 4
  • NSL3 2 3 4
  • Serum Inhibited-Related Protein 3 4
  • Testis Development Protein PRTD 3 4
  • Non-Specific Lethal 3 Homolog 3 4
  • NSL Complex Protein NSL3 3 4
  • Rcd1 2 3
  • FLJ10081 2
  • KANSL3 5
  • PRTD 4
  • SI1 4

External Ids for KANSL3 Gene

Previous HGNC Symbols for KANSL3 Gene

  • KIAA1310

Previous GeneCards Identifiers for KANSL3 Gene

  • GC02M097259

Summaries for KANSL3 Gene

GeneCards Summary for KANSL3 Gene

KANSL3 (KAT8 Regulatory NSL Complex Subunit 3) is a Protein Coding gene. Diseases associated with KANSL3 include Osteogenesis Imperfecta, Type I and Osteogenesis Imperfecta, Type Iv. Among its related pathways are Chromatin organization. Gene Ontology (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 TEX30.

UniProtKB/Swiss-Prot Summary for KANSL3 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 KANSL3 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for KANSL3 Gene

Genomics for KANSL3 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for KANSL3 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around KANSL3 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for KANSL3

Genomic Locations for KANSL3 Gene

Latest Assembly
chr2:96,593,170-96,642,787
(GRCh38/hg38)
Size:
49,618 bases
Orientation:
Minus strand

Previous Assembly
chr2:97,258,909-97,304,049
(GRCh37/hg19 by Entrez Gene)
Size:
45,141 bases
Orientation:
Minus strand

chr2:97,258,907-97,308,524
(GRCh37/hg19 by Ensembl)
Size:
49,618 bases
Orientation:
Minus strand

Genomic View for KANSL3 Gene

Genes around KANSL3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
KANSL3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for KANSL3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for KANSL3 Gene

Proteins for KANSL3 Gene

  • Protein details for KANSL3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9P2N6-KANL3_HUMAN
    Recommended name:
    KAT8 regulatory NSL complex subunit 3
    Protein Accession:
    Q9P2N6
    Secondary Accessions:
    • A1L184
    • D3DXH3
    • D3DXH4
    • Q05BU4
    • Q6P3X2
    • Q6PJH6
    • Q86T19
    • Q96L64
    • Q9H0C9
    • Q9H8C9
    • Q9HAP8
    • Q9NWE5

    Protein attributes for KANSL3 Gene

    Size:
    904 amino acids
    Molecular mass:
    95992 Da
    Quaternary structure:
    • Component of the NSL complex at least composed of MOF/KAT8, KANSL1, KANSL2, KANSL3, MCRS1, PHF20, OGT1/OGT, WDR5 and HCFC1.
    SequenceCaution:
    • Sequence=AAH15469.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence.; Evidence={ECO:0000305}; Sequence=AAI27821.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Sequence of unknown origin in the C-terminal part.; Evidence={ECO:0000305}; Sequence=BAA92548.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305};
    Miscellaneous:
    • [Isoform 2]: May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.

    Alternative splice isoforms for KANSL3 Gene

neXtProt entry for KANSL3 Gene

Post-translational modifications for KANSL3 Gene

  • Glycosylation at Thr860
  • Modification sites at PhosphoSitePlus
  • Glycosylation from GlyConnect
    • KANL3_HUMAN (2906)

No data available for DME Specific Peptides for KANSL3 Gene

Domains & Families for KANSL3 Gene

Gene Families for KANSL3 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for KANSL3 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for KANSL3 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ55383 (B4E1W4_HUMAN)
  • Testis development protein PRTD (K1310_HUMAN)
genes like me logo Genes that share domains with KANSL3: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for KANSL3 Gene

Function for KANSL3 Gene

Molecular function for KANSL3 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.

Phenotypes From GWAS Catalog for KANSL3 Gene

Gene Ontology (GO) - Molecular Function for KANSL3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0043995 histone acetyltransferase activity (H4-K5 specific) IBA --
GO:0043996 histone acetyltransferase activity (H4-K8 specific) IBA --
GO:0046972 histone acetyltransferase activity (H4-K16 specific) IBA --
genes like me logo Genes that share ontologies with KANSL3: view
genes like me logo Genes that share phenotypes with KANSL3: view

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for KANSL3

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for KANSL3 Gene

Localization for KANSL3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for KANSL3 Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for KANSL3 gene
Compartment Confidence
nucleus 5
extracellular 2
cytoskeleton 2
mitochondrion 2
cytosol 2
plasma membrane 1
endoplasmic reticulum 1
endosome 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoplasm (3)
  • Vesicles (1)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for KANSL3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000123 histone acetyltransferase complex IDA 20018852
GO:0005634 nucleus IEA --
GO:0005654 nucleoplasm TAS --
GO:0043231 intracellular membrane-bounded organelle IDA --
GO:0044545 NSL complex IBA 21873635
genes like me logo Genes that share ontologies with KANSL3: view

Pathways & Interactions for KANSL3 Gene

PathCards logo

SuperPathways for KANSL3 Gene

genes like me logo Genes that share pathways with KANSL3: view

Pathways by source for KANSL3 Gene

Gene Ontology (GO) - Biological Process for KANSL3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006325 chromatin organization IEA --
GO:0043981 histone H4-K5 acetylation IBA,IDA 20018852
GO:0043982 histone H4-K8 acetylation IBA,IDA 20018852
GO:0043984 histone H4-K16 acetylation IBA,IDA 20018852
GO:0045944 positive regulation of transcription by RNA polymerase II IBA 21873635
genes like me logo Genes that share ontologies with KANSL3: view

No data available for SIGNOR curated interactions for KANSL3 Gene

Drugs & Compounds for KANSL3 Gene

(1) Drugs for KANSL3 Gene - From: DrugBank

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Naringenin Experimental Pharma Target 5
genes like me logo Genes that share compounds with KANSL3: view

Transcripts for KANSL3 Gene

mRNA/cDNA for KANSL3 Gene

9 REFSEQ mRNAs :
26 NCBI additional mRNA sequence :
21 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for KANSL3

Alternative Splicing Database (ASD) splice patterns (SP) for KANSL3 Gene

ExUns: 1a · 1b · 1c · 1d ^ 2a · 2b · 2c ^ 3a · 3b · 3c ^ 4 ^ 5a · 5b · 5c · 5d · 5e ^ 6 ^ 7 ^ 8a · 8b · 8c · 8d ^ 9 ^ 10 ^ 11a · 11b ·
SP1: - - - - - - - - - -
SP2: - - - - - - - - - -
SP3: - - - - - - - - - - -
SP4: - - - - - - -
SP5: - - -
SP6: - - -
SP7: - - - - - - - - - -
SP8:
SP9:
SP10:
SP11: - - - - - - - - - - - - - - - - - - -
SP12: - - - - - - - - - - - - -
SP13: - - - - - - - - - -
SP14: - - - - - - - -
SP15: - - - - - - - - -
SP16:
SP17: - - - -
SP18: - - - - - - - - - - - - - - - -
SP19: - - - - -
SP20: - - - - - - - - - - - -
SP21: - - - -
SP22:
SP23:
SP24:

ExUns: 11c ^ 12a · 12b ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18a · 18b ^ 19 ^ 20 ^ 21a · 21b ^ 22a · 22b ^ 23a · 23b ^ 24 ^ 25a · 25b ^ 26a · 26b ^ 27 ^ 28 ^ 29a ·
SP1: - - - - -
SP2: - - - - -
SP3: - - - - - -
SP4: - - - - -
SP5: - - - -
SP6: -
SP7:
SP8:
SP9: - -
SP10:
SP11:
SP12:
SP13:
SP14:
SP15:
SP16: - -
SP17:
SP18:
SP19:
SP20:
SP21:
SP22:
SP23: - -
SP24:

Relevant External Links for KANSL3 Gene

GeneLoc Exon Structure for
KANSL3

Expression for KANSL3 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for KANSL3 Gene

Protein differential expression in normal tissues from HIPED for KANSL3 Gene

This gene is overexpressed in Liver, secretome (27.6), Peripheral blood mononuclear cells (19.3), and CD8 Tcells (9.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for KANSL3 Gene



Protein tissue co-expression partners for KANSL3 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for KANSL3

SOURCE GeneReport for Unigene cluster for KANSL3 Gene:

Hs.516341

Evidence on tissue expression from TISSUES for KANSL3 Gene

  • Nervous system(4.9)
  • Intestine(4.4)
  • Lung(4)
  • Skin(2.5)
  • Kidney(2.2)
  • Muscle(2.1)
  • Liver(2)
genes like me logo Genes that share expression patterns with KANSL3: view

Primer products for research

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for KANSL3 Gene

Orthologs for KANSL3 Gene

This gene was present in the common ancestor of animals.

Orthologs for KANSL3 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia KANSL3 30 31
  • 99.81 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia KANSL3 30 31
  • 93.01 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia KANSL3 31
  • 91 (a)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Kansl3 30
  • 89.81 (n)
Mouse
(Mus musculus)
Mammalia Kansl3 30 17 31
  • 89.36 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia KANSL3 31
  • 86 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 83 (a)
OneToMany
-- 31
  • 68 (a)
OneToMany
-- 31
  • 61 (a)
OneToMany
Chicken
(Gallus gallus)
Aves KANSL3 30 31
  • 75.64 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia KANSL3 31
  • 73 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia LOC100158552 30
  • 69.86 (n)
Zebrafish
(Danio rerio)
Actinopterygii kansl3 30 31
  • 67.73 (n)
OneToOne
Fruit Fly
(Drosophila melanogaster)
Insecta Rcd1 31
  • 20 (a)
OneToOne
Worm
(Caenorhabditis elegans)
Secernentea F54D11.2 31
  • 9 (a)
OneToOne
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 43 (a)
OneToOne
Species where no ortholog for KANSL3 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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 Vase (Ciona intestinalis)
  • 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)

Evolution for KANSL3 Gene

ENSEMBL:
Gene Tree for KANSL3 (if available)
TreeFam:
Gene Tree for KANSL3 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for KANSL3: view image

Paralogs for KANSL3 Gene

Paralogs for KANSL3 Gene

genes like me logo Genes that share paralogs with KANSL3: view

Variants for KANSL3 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for KANSL3 Gene

SNP ID Clinical significance and condition Chr 02 pos Variation AA Info Type
rs34406082 - p.Val707Ile

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for KANSL3 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for KANSL3 Gene

Variant ID Type Subtype PubMed ID
dgv607e201 CNV deletion 23290073
esv2660856 CNV deletion 23128226
esv2720413 CNV deletion 23290073
esv3425717 CNV duplication 20981092
esv5003 OTHER complex 18987735
nsv1135873 CNV deletion 24896259
nsv1138819 CNV deletion 24896259
nsv469775 CNV loss 16826518
nsv819818 CNV loss 19587683
nsv834306 CNV loss 17160897

Variation tolerance for KANSL3 Gene

Residual Variation Intolerance Score: 27.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.17; 61.69% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for KANSL3 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
KANSL3

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for KANSL3 Gene

Disorders for KANSL3 Gene

MalaCards: The human disease database

(4) MalaCards diseases for KANSL3 Gene - From: COP

- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for KANSL3

genes like me logo Genes that share disorders with KANSL3: view

No data available for UniProtKB/Swiss-Prot and Genatlas for KANSL3 Gene

Publications for KANSL3 Gene

  1. Subunit composition and substrate specificity of a MOF-containing histone acetyltransferase distinct from the male-specific lethal (MSL) complex. (PMID: 20018852) Cai Y … Conaway RC (The Journal of biological chemistry 2010) 3 4
  2. Nuclear pore components are involved in the transcriptional regulation of dosage compensation in Drosophila. (PMID: 16543150) Mendjan S … Akhtar A (Molecular cell 2006) 3 4
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4
  4. Toward a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs. (PMID: 11230166) Wiemann S … Poustka A (Genome research 2001) 3 4
  5. Prediction of the coding sequences of unidentified human genes. XVI. The complete sequences of 150 new cDNA clones from brain which code for large proteins in vitro. (PMID: 10718198) Nagase T … Ohara O (DNA research : an international journal for rapid publication of reports on genes and genomes 2000) 3 4

Products for KANSL3 Gene

Sources for KANSL3 Gene