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Aliases for BYSL Gene

Aliases for BYSL Gene

  • Bystin Like 2 3 5
  • By The Ribosomal Protein S6 Gene, Drosophila, Homolog-Like 3
  • Bystin-Like 2
  • BYSTIN 3
  • Enp1 3

External Ids for BYSL Gene

Previous GeneCards Identifiers for BYSL Gene

  • GC06P041891
  • GC06P041936
  • GC06P041996
  • GC06P041888
  • GC06P041607

Summaries for BYSL Gene

Entrez Gene Summary for BYSL Gene

  • Bystin is expressed as a 2-kb major transcript and a 3.6-kb minor transcript in SNG-M cells and in human trophoblastic teratocarcinoma HT-H cells. Protein binding assays determined that bystin binds directly to trophinin and tastin, and that binding is enhanced when cytokeratins 8 and 18 are present. Immunocytochemistry of HT-H cells showed that bystin colocalizes with trophinin, tastin, and the cytokeratins, suggesting that these molecules form a complex in trophectoderm cells at the time of implantation. Using immunohistochemistry it was determined that trophinin and bystin are found in the placenta from the sixth week of pregnancy. Both proteins were localized in the cytoplasm of the syncytiotrophoblast in the chorionic villi and in endometrial decidual cells at the uteroplacental interface. After week 10, the levels of trophinin, tastin, and bystin decreased and then disappeared from placental villi. [provided by RefSeq, Jul 2008]

GeneCards Summary for BYSL Gene

BYSL (Bystin Like) is a Protein Coding gene. Among its related pathways are Gene Expression and rRNA processing in the nucleus and cytosol.

UniProtKB/Swiss-Prot for BYSL Gene

  • Required for processing of 20S pre-rRNA precursor and biogenesis of 40S ribosomal subunits. May be required for trophinin-dependent regulation of cell adhesion during implantation of human embryos.

Gene Wiki entry for BYSL Gene

Additional gene information for BYSL Gene

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

Genomics for BYSL Gene

GeneHancer (GH) Regulatory Elements for BYSL Gene

Promoters and enhancers for BYSL Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH06I041919 Promoter/Enhancer 2.3 EPDnew FANTOM5 Ensembl ENCODE 550.4 +13.7 13662 4.1 PKNOX1 FOXA2 SMAD1 ARNT ARID4B SIN3A DMAP1 ZNF2 YY1 POLR2B MED20 BYSL FRS3 ENSG00000124593 LOC105375060
GH06I042040 Promoter/Enhancer 2.8 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 11.4 +138.5 138482 11 FEZF1 DMAP1 IRF4 YY1 SLC30A9 ZNF213 E2F8 ZNF143 ZNF263 SP3 CCND3 TAF8 PIR49026 ENSG00000124593 RNU6-761P ENSG00000207371 MED20 BYSL FRS3 PRICKLE4
GH06I041934 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 12 +30.9 30858 8.9 HDGF PKNOX1 CLOCK SMAD1 ARNT ZFP64 ARID4B SIN3A DMAP1 ZNF2 CCND3 ENSG00000124593 USP49 FRS3 MED20 UBR2 BICRAL ENSG00000207371 BYSL RNU6-761P
GH06I041784 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 10.9 -121.4 -121395 4.7 ZFP64 IRF4 YY1 SLC30A9 E2F8 ZNF143 SP3 NFYC SSRP1 GLIS1 FRS3 TOMM6 ENSG00000124593 MED20 USP49 BICRAL BYSL ENSG00000207371 PGC PRICKLE4
GH06I042744 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 9.9 +838.7 838692 4.8 MLX ZFP64 FEZF1 DMAP1 YY1 SLC30A9 ZNF213 E2F8 ZNF143 SP3 BICRAL PIR40096 PIR49302 PIR52070 TBCC POLH XPO5 ZNF318 RRP36 FRS3
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around BYSL on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the BYSL gene promoter:

Genomic Locations for BYSL Gene

Genomic Locations for BYSL Gene
chr6:41,907,847-41,933,046
(GRCh38/hg38)
Size:
25,200 bases
Orientation:
Plus strand
chr6:41,888,926-41,900,784
(GRCh37/hg19)

Genomic View for BYSL Gene

Genes around BYSL on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for BYSL Gene

Proteins for BYSL Gene

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

    Protein Symbol:
    Q13895-BYST_HUMAN
    Recommended name:
    Bystin
    Protein Accession:
    Q13895
    Secondary Accessions:
    • Q6P5W4
    • Q86W44
    • Q96IP8

    Protein attributes for BYSL Gene

    Size:
    437 amino acids
    Molecular mass:
    49601 Da
    Quaternary structure:
    • Binds trophinin, tastin and cytokeratins.
    Miscellaneous:
    • HeLa cells lacking BYSL show a delay in the processing of the 18S rRNA component of the 40S ribosomal subunit. HT-H cells lacking BYSL show trophinin-independent signaling through ERBB4.
    SequenceCaution:
    • Sequence=AAC16603.2; Type=Erroneous initiation; Evidence={ECO:0000305};

neXtProt entry for BYSL Gene

Post-translational modifications for BYSL Gene

  • Ubiquitination at Lys154 and Lys398

Other Protein References for BYSL Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for BYSL Gene

Domains & Families for BYSL Gene

Gene Families for BYSL Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for BYSL Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for BYSL Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q13895

UniProtKB/Swiss-Prot:

BYST_HUMAN :
  • Belongs to the bystin family.
Family:
  • Belongs to the bystin family.
genes like me logo Genes that share domains with BYSL: view

Function for BYSL Gene

Molecular function for BYSL Gene

GENATLAS Biochemistry:
bystin,cytoplasmic protein binding directly to trophinin and tastin which mediate the homophilic adhesion between trophoblast and endometrial epithelial cells,implicated in embryo implantations process
UniProtKB/Swiss-Prot Function:
Required for processing of 20S pre-rRNA precursor and biogenesis of 40S ribosomal subunits. May be required for trophinin-dependent regulation of cell adhesion during implantation of human embryos.

Phenotypes From GWAS Catalog for BYSL Gene

Gene Ontology (GO) - Molecular Function for BYSL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003723 RNA binding HDA,IDA 22658674
GO:0005515 protein binding IPI 9560222
genes like me logo Genes that share ontologies with BYSL: view
genes like me logo Genes that share phenotypes with BYSL: view

Animal Models for BYSL Gene

MGI Knock Outs for BYSL:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for BYSL

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

Localization for BYSL Gene

Subcellular locations from UniProtKB/Swiss-Prot for BYSL Gene

Cytoplasm. Nucleus, nucleolus. Note=Associated with 40S ribosomal subunits.

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 BYSL gene
Compartment Confidence
nucleus 5
cytosol 5
cytoskeleton 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoli (4)
  • Nucleus (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for BYSL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA --
GO:0005654 nucleoplasm TAS --
GO:0005730 nucleolus IDA,IEA --
GO:0005737 cytoplasm TAS 9560222
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with BYSL: view

Pathways & Interactions for BYSL Gene

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

Gene Ontology (GO) - Biological Process for BYSL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000462 maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) IEA --
GO:0001701 in utero embryonic development IEA --
GO:0001825 blastocyst formation IEA --
GO:0001829 trophectodermal cell differentiation IEA --
GO:0006364 rRNA processing TAS --
genes like me logo Genes that share ontologies with BYSL: view

No data available for SIGNOR curated interactions for BYSL Gene

Drugs & Compounds for BYSL Gene

(1) Drugs for BYSL Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
genes like me logo Genes that share compounds with BYSL: view

Transcripts for BYSL Gene

Unigene Clusters for BYSL Gene

Bystin-like:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for BYSL

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

No ASD Table

Relevant External Links for BYSL Gene

GeneLoc Exon Structure for
BYSL
ECgene alternative splicing isoforms for
BYSL

Expression for BYSL Gene

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

Protein differential expression in normal tissues from HIPED for BYSL Gene

This gene is overexpressed in Lung (41.7) and Pancreas (6.9).

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



Protein tissue co-expression partners for BYSL Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of BYSL Gene:

BYSL

SOURCE GeneReport for Unigene cluster for BYSL Gene:

Hs.106880

mRNA Expression by UniProt/SwissProt for BYSL Gene:

Q13895-BYST_HUMAN
Tissue specificity: Found in the placenta from the sixth week of pregnancy. Was localized in the cytoplasm of the syncytiotrophoblast in the chorionic villi and in endometrial decidual cells at the uteroplacental interface. After week 10, the level decreased and then disappeared from placental villi.

Evidence on tissue expression from TISSUES for BYSL Gene

  • Pancreas(4.4)
  • Lung(4.3)
  • Liver(4.2)
  • Nervous system(2.5)
  • Kidney(2.1)
  • Skin(2.1)
genes like me logo Genes that share expression patterns with BYSL: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for BYSL Gene

Orthologs for BYSL Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for BYSL Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia BYSL 34
  • 100 (a)
OneToOne
dog
(Canis familiaris)
Mammalia BYSL 33 34
  • 90.08 (n)
cow
(Bos Taurus)
Mammalia BYSL 33 34
  • 89.12 (n)
rat
(Rattus norvegicus)
Mammalia Bysl 33
  • 86.77 (n)
mouse
(Mus musculus)
Mammalia Bysl 33 16 34
  • 85.63 (n)
oppossum
(Monodelphis domestica)
Mammalia BYSL 34
  • 84 (a)
OneToOne
chicken
(Gallus gallus)
Aves BYSL 33 34
  • 73.11 (n)
lizard
(Anolis carolinensis)
Reptilia BYSL 34
  • 69 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia bysl 33
  • 68.06 (n)
Str.1362 33
zebrafish
(Danio rerio)
Actinopterygii bysl 33 34
  • 73.35 (n)
-- 33
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP002923 33
  • 58.58 (n)
fruit fly
(Drosophila melanogaster)
Insecta bys 35 33 34
  • 57.6 (n)
worm
(Caenorhabditis elegans)
Secernentea F57B9.5 35
  • 59 (a)
byn-1 33 34
  • 56.02 (n)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AFL044W 33
  • 52.71 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0F06622g 33
  • 48.36 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ENP1 33 34 36
  • 48.17 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT1G31660 33
  • 53.85 (n)
soybean
(Glycine max)
eudicotyledons Gma.14515 33
rice
(Oryza sativa)
Liliopsida Os09g0352400 33
  • 53.65 (n)
wheat
(Triticum aestivum)
Liliopsida Ta.29234 33
corn
(Zea mays)
Liliopsida Zm.5487 33
sea squirt
(Ciona savignyi)
Ascidiacea CSA.7954 34
  • 53 (a)
OneToOne
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPBC13G1.09 33
  • 50.2 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU08323 33
  • 49.69 (n)
Species where no ortholog for BYSL was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)

Evolution for BYSL Gene

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

Paralogs for BYSL Gene

No data available for Paralogs for BYSL Gene

Variants for BYSL Gene

Sequence variations from dbSNP and Humsavar for BYSL Gene

SNP ID Clin Chr 06 pos Variation AA Info Type
rs1000020825 -- 41,929,266(+) T/G intron_variant
rs1000383840 -- 41,921,265(+) C/G 5_prime_UTR_variant
rs1000477092 -- 41,927,228(+) G/C intron_variant
rs1000847759 -- 41,926,867(+) G/A intron_variant
rs1000919211 -- 41,922,701(+) C/A intron_variant

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

Variant ID Type Subtype PubMed ID
nsv830646 CNV loss 17160897
nsv476418 CNV novel sequence insertion 20440878

Variation tolerance for BYSL Gene

Residual Variation Intolerance Score: 81.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.68; 78.54% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for BYSL Gene

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

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

Disorders for BYSL Gene

Additional Disease Information for BYSL

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology

No disorders were found for BYSL Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for BYSL Gene

Publications for BYSL Gene

  1. Bystin in human cancer cells: intracellular localization and function in ribosome biogenesis. (PMID: 17381424) Miyoshi M … Nadano D (The Biochemical journal 2007) 2 3 4 22 58
  2. Trophoblast cell activation by trophinin ligation is implicated in human embryo implantation. (PMID: 17360433) Sugihara K … Fukuda MN (Proceedings of the National Academy of Sciences of the United States of America 2007) 3 4 22 58
  3. A cytoplasmic protein, bystin, interacts with trophinin, tastin, and cytokeratin and may be involved in trophinin-mediated cell adhesion between trophoblast and endometrial epithelial cells. (PMID: 9560222) Suzuki N … Fukuda MN (Proceedings of the National Academy of Sciences of the United States of America 1998) 3 4 22 58
  4. Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium. (PMID: 19862010) Ganesh SK … Lin JP (Nature genetics 2009) 3 44 58
  5. A genome-wide meta-analysis identifies 22 loci associated with eight hematological parameters in the HaemGen consortium. (PMID: 19820697) Soranzo N … Gieger C (Nature genetics 2009) 3 44 58

Products for BYSL Gene

  • Addgene plasmids for BYSL

Sources for BYSL Gene

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