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Aliases for ASXL3 Gene

Aliases for ASXL3 Gene

  • Additional Sex Combs Like Transcriptional Regulator 3 2 3
  • KIAA1713 2 3 4 6
  • Additional Sex Combs-Like Protein 3 3 4
  • BRPS 3 6
  • Additional Sex Combs Like 3 (Drosophila) 2
  • Putative Polycomb Group Protein ASXL3 3
  • Additional Sex Combs Like 3 3

External Ids for ASXL3 Gene

Previous Symbols for ASXL3 Gene

  • KIAA1713

Summaries for ASXL3 Gene

GeneCards Summary for ASXL3 Gene

ASXL3 (Additional Sex Combs Like Transcriptional Regulator 3) is a Protein Coding gene. Diseases associated with ASXL3 include bainbridge-ropers syndrome and severe feeding difficulties - failure to thrive - microcephaly due to asxl3 deficiency. An important paralog of this gene is ASXL2.

UniProtKB/Swiss-Prot for ASXL3 Gene

  • Putative Polycomb group (PcG) protein. PcG proteins act by forming multiprotein complexes, which are required to maintain the transcriptionally repressive state of homeotic genes throughout development. PcG proteins are not required to initiate repression, but to maintain it during later stages of development. They probably act via methylation of histones, rendering chromatin heritably changed in its expressibility (By similarity).

No data available for Entrez Gene Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ASXL3 Gene

Genomics for ASXL3 Gene

Genomic Location for ASXL3 Gene

Start:
33,578,577 bp from pter
End:
33,751,195 bp from pter
Size:
172,619 bases
Orientation:
Plus strand

Genomic View for ASXL3 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for ASXL3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ASXL3 Gene

Regulatory Elements for ASXL3 Gene

Proteins for ASXL3 Gene

  • Protein details for ASXL3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9C0F0-ASXL3_HUMAN
    Recommended name:
    Putative Polycomb group protein ASXL3
    Protein Accession:
    Q9C0F0
    Secondary Accessions:
    • Q6ZMX6
    • Q96MU3
    • Q9UFC5

    Protein attributes for ASXL3 Gene

    Size:
    2248 amino acids
    Molecular mass:
    241919 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=BAB71186.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=BAD18599.1; Type=Erroneous translation; Note=Wrong choice of CDS.; Evidence={ECO:0000305}; Sequence=CAB61377.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence.; Evidence={ECO:0000305};

    Alternative splice isoforms for ASXL3 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ASXL3 Gene

Proteomics data for ASXL3 Gene at MOPED

Post-translational modifications for ASXL3 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for ASXL3 Gene

Domains for ASXL3 Gene

Protein Domains for ASXL3 Gene

UniProtKB/Swiss-Prot:

ASXL3_HUMAN
Family:
  • Belongs to the Asx family.:
    • Q9C0F0
Similarity:
  • Contains 1 PHD-type zinc finger.:
    • Q9C0F0
genes like me logo Genes that share domains with ASXL3: view

No data available for Gene Families for ASXL3 Gene

Function for ASXL3 Gene

Molecular function for ASXL3 Gene

UniProtKB/Swiss-Prot Function: Putative Polycomb group (PcG) protein. PcG proteins act by forming multiprotein complexes, which are required to maintain the transcriptionally repressive state of homeotic genes throughout development. PcG proteins are not required to initiate repression, but to maintain it during later stages of development. They probably act via methylation of histones, rendering chromatin heritably changed in its expressibility (By similarity).

Gene Ontology (GO) - Molecular Function for ASXL3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003677 DNA binding IEA --
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with ASXL3: view

Phenotypes for ASXL3 Gene

GenomeRNAi human phenotypes for ASXL3:
genes like me logo Genes that share phenotypes with ASXL3: view

miRNA for ASXL3 Gene

miRTarBase miRNAs that target ASXL3

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targeting and HOMER Transcription for ASXL3 Gene

Localization for ASXL3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ASXL3 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for ASXL3 Gene COMPARTMENTS Subcellular localization image for ASXL3 gene
Compartment Confidence
nucleus 4

Gene Ontology (GO) - Cellular Components for ASXL3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
genes like me logo Genes that share ontologies with ASXL3: view

Pathways for ASXL3 Gene

SuperPathways for ASXL3 Gene

No Data Available

Interacting Proteins for ASXL3 Gene

Gene Ontology (GO) - Biological Process for ASXL3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
genes like me logo Genes that share ontologies with ASXL3: view

No data available for Pathways by source for ASXL3 Gene

Transcripts for ASXL3 Gene

Unigene Clusters for ASXL3 Gene

Additional sex combs like 3 (Drosophila):
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for ASXL3 Gene

No ASD Table

Relevant External Links for ASXL3 Gene

GeneLoc Exon Structure for
ASXL3
ECgene alternative splicing isoforms for
ASXL3

Expression for ASXL3 Gene

mRNA expression in normal human tissues for ASXL3 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for ASXL3 Gene

This gene is overexpressed in Testis (4.2).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for ASXL3 Gene

SOURCE GeneReport for Unigene cluster for ASXL3 Gene Hs.464876

mRNA Expression by UniProt/SwissProt for ASXL3 Gene

Q9C0F0-ASXL3_HUMAN
Tissue specificity: Expressed in pancreatic islets, testis, neuroblastoma, head and neck tumor.
genes like me logo Genes that share expressions with ASXL3: view

Orthologs for ASXL3 Gene

This gene was present in the common ancestor of animals.

Orthologs for ASXL3 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ASXL3 36
  • 99.28 (n)
  • 99.33 (a)
ASXL3 37
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia ASXL3 36
  • 85.17 (n)
  • 85.14 (a)
ASXL3 37
  • 80 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ASXL3 36
  • 89.04 (n)
  • 88.81 (a)
ASXL3 37
  • 89 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Asxl3 36
  • 83.31 (n)
  • 81.77 (a)
Asxl3 16
Asxl3 37
  • 80 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia ASXL3 37
  • 75 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ASXL3 37
  • 66 (a)
OneToOne
chicken
(Gallus gallus)
Aves ASXL3 36
  • 75.64 (n)
  • 73.12 (a)
ASXL3 37
  • 71 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ASXL3 37
  • 66 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia asxl3 36
  • 64.74 (n)
  • 59.58 (a)
fruit fly
(Drosophila melanogaster)
Insecta Asx 37
  • 15 (a)
OneToMany
Species with no ortholog for ASXL3:
  • A. gosspyii yeast (Ashbya 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)
  • rat (Rattus norvegicus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • 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)
  • zebrafish (Danio rerio)

Evolution for ASXL3 Gene

ENSEMBL:
Gene Tree for ASXL3 (if available)
TreeFam:
Gene Tree for ASXL3 (if available)

Paralogs for ASXL3 Gene

Paralogs for ASXL3 Gene

Selected SIMAP similar genes for ASXL3 Gene using alignment to 10 proteins:

genes like me logo Genes that share paralogs with ASXL3: view

Variants for ASXL3 Gene

Sequence variations from dbSNP and Humsavar for ASXL3 Gene

SNP ID Clin Chr 18 pos Sequence Context AA Info Type MAF
rs659157 -- 33,727,182(+) CTCGG(G/T)GCACC intron-variant
rs681430 -- 33,673,650(+) gggcc(A/C)ccatg intron-variant
rs689664 -- 33,626,601(+) AATAT(G/T)GTGTT intron-variant
rs689665 -- 33,626,636(+) TATTT(C/T)CCATT intron-variant
rs689666 -- 33,626,642(+) CCATT(G/T)GGGAT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for ASXL3 Gene

Variant ID Type Subtype PubMed ID
esv2668525 CNV Deletion 23128226
nsv833618 CNV Gain 17160897
nsv131746 CNV Insertion 16902084
nsv819880 CNV Loss 19587683

Relevant External Links for ASXL3 Gene

HapMap Linkage Disequilibrium report
ASXL3
Human Gene Mutation Database (HGMD)
ASXL3

Disorders for ASXL3 Gene

(1) OMIM Diseases for ASXL3 Gene (615115)

UniProtKB/Swiss-Prot

ASXL3_HUMAN
  • Bainbridge-Ropers syndrome (BRPS) [MIM:615485]: A syndrome characterized by psychomotor retardation, feeding problems, severe postnatal growth retardation in some patients, arched eyebrows, anteverted nares, and ulnar deviation of the hands. {ECO:0000269 PubMed:23383720}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for ASXL3

Genetic Association Database (GAD)
ASXL3
Human Genome Epidemiology (HuGE) Navigator
ASXL3
genes like me logo Genes that share disorders with ASXL3: view

Publications for ASXL3 Gene

  1. Prediction of the coding sequences of unidentified human genes. XIX. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PMID: 11214970) Nagase T. … Ohara O. (DNA Res. 2000) 2 3 4
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4
  3. Identification and characterization of ASXL3 gene in silico. (PMID: 15138607) Katoh M. … Katoh M. (Int. J. Oncol. 2004) 3 4
  4. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose J.E. … Uhl G.R. (Mol. Med. 2010) 3 49
  5. Genome-wide association study of lung function phenotypes in a founder population. (PMID: 23932459) Yao T.C. … Ober C. (J. Allergy Clin. Immunol. 2014) 3

Products for ASXL3 Gene

Sources for ASXL3 Gene

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