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 trophini... See more...

Aliases for BYSL Gene

Aliases for BYSL Gene

  • Bystin Like 2 3 5
  • Bystin 3 4
  • By The Ribosomal Protein S6 Gene, Drosophila, Homolog-Like 3
  • Bystin-Like 2
  • BYSTIN 3
  • Enp1 3
  • ENP1 4

External Ids for BYSL Gene

Previous GeneCards Identifiers for BYSL Gene

  • GC06P041891
  • GC06P041936
  • GC06P041996
  • GC06P041888
  • GC06P041607
  • GC06P042937
  • GC06P043265
  • GC06P042109
  • GC06P042113
  • GC06P042638

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 Summary 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 , Rfam classification and piRNA Summary for BYSL Gene

Genomics for BYSL Gene

GeneHancer (GH) Regulatory Elements for BYSL Gene

Promoters and enhancers for BYSL 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 BYSL on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the BYSL gene promoter:
  • AML1a
  • E47
  • GCNF
  • GCNF-1
  • GCNF-2
  • Hand1
  • MyoD
  • NF-1
  • NF-1/L
  • SRF (504 AA)

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)
Size:
11,859 bases
Orientation:
Plus strand

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; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for BYSL Gene

neXtProt entry for BYSL Gene

Post-translational modifications for BYSL Gene

  • Ubiquitination at Lys154 and Lys398
  • Modification sites at PhosphoSitePlus

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

Blocks:
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for BYSL Gene

GenScript: Design optimal peptide antigens:
  • Bystin (BYST_HUMAN)
  • Bystin-like (Q5T8J2_HUMAN)

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

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.
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

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 22658674
GO:0005515 protein binding IPI 9560222
GO:0030515 snoRNA binding IBA 21873635
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

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

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

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 IBA,IDA --
GO:0005654 nucleoplasm TAS --
GO:0005730 nucleolus IBA,IDA 26711351
GO:0005737 cytoplasm TAS,IBA 21873635
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 IBA 21873635
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

mRNA/cDNA for BYSL Gene

CRISPR Products

Inhibitory RNA Products

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

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, 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(2.4)
  • Kidney(2.1)
  • Skin(2.1)
genes like me logo Genes that share expression patterns with BYSL: view

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 33
  • 100 (a)
OneToOne
dog
(Canis familiaris)
Mammalia BYSL 33 32
  • 90.08 (n)
OneToOne
cow
(Bos Taurus)
Mammalia BYSL 33 32
  • 89.12 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Bysl 32
  • 86.77 (n)
mouse
(Mus musculus)
Mammalia Bysl 17 33 32
  • 85.63 (n)
oppossum
(Monodelphis domestica)
Mammalia BYSL 33
  • 84 (a)
OneToOne
chicken
(Gallus gallus)
Aves BYSL 33 32
  • 73.11 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia BYSL 33
  • 69 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia bysl 32
  • 68.06 (n)
Str.1362 32
zebrafish
(Danio rerio)
Actinopterygii bysl 33 32
  • 73.35 (n)
OneToOne
-- 32
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP002923 32
  • 58.58 (n)
fruit fly
(Drosophila melanogaster)
Insecta bys 33 34 32
  • 57.6 (n)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea F57B9.5 34
  • 59 (a)
byn-1 33 32
  • 56.02 (n)
OneToOne
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AFL044W 32
  • 52.71 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0F06622g 32
  • 48.36 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ENP1 35 33 32
  • 48.17 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT1G31660 32
  • 53.85 (n)
soybean
(Glycine max)
eudicotyledons Gma.14515 32
rice
(Oryza sativa)
Liliopsida Os09g0352400 32
  • 53.65 (n)
wheat
(Triticum aestivum)
Liliopsida Ta.29234 32
corn
(Zea mays)
Liliopsida Zm.5487 32
sea squirt
(Ciona savignyi)
Ascidiacea CSA.7954 33
  • 53 (a)
OneToOne
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPBC13G1.09 32
  • 50.2 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU08323 32
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for BYSL: view image

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 upstream_transcript_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
nsv476418 CNV novel sequence insertion 20440878
nsv830646 CNV loss 17160897

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

SNP Genotyping and Copy Number Assay Products

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 23 56
  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 23 56
  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 23 56
  4. Genome-wide RNAi Screening Identifies Protein Modules Required for 40S Subunit Synthesis in Human Cells. (PMID: 26711351) Badertscher L … Kutay U (Cell reports 2015) 3 4 56
  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 43 56

Products for BYSL Gene

Sources for BYSL Gene