This gene encodes a highly conserved metalloprotein. A similar protein in bacteria acts as an endoribonuclease, and is thought to function in ribosomal RNA maturation and ribosome assembly. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2015] See more...

Aliases for YBEY Gene

Aliases for YBEY Gene

  • YbeY Metalloendoribonuclease 2 3 5
  • YbeY Metallopeptidase (Putative) 2 3
  • Endoribonuclease YbeY 3 4
  • C21orf57 3 4
  • Chromosome 21 Open Reading Frame 57 2
  • Putative Metalloprotease C21orf57 3
  • RRNA Maturation Factor Homolog 3
  • Putative Ribonuclease 3
  • EC 3.1.-.- 4
  • YBEY 5

External Ids for YBEY Gene

Previous HGNC Symbols for YBEY Gene

  • C21orf57

Previous GeneCards Identifiers for YBEY Gene

  • GC21P047707

Summaries for YBEY Gene

Entrez Gene Summary for YBEY Gene

  • This gene encodes a highly conserved metalloprotein. A similar protein in bacteria acts as an endoribonuclease, and is thought to function in ribosomal RNA maturation and ribosome assembly. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2015]

GeneCards Summary for YBEY Gene

YBEY (YbeY Metalloendoribonuclease) is a Protein Coding gene. Diseases associated with YBEY include Schizophrenia 10. Gene Ontology (GO) annotations related to this gene include metalloendopeptidase activity. An important paralog of this gene is BRD7.

UniProtKB/Swiss-Prot Summary for YBEY Gene

  • Single strand-specific metallo-endoribonuclease involved in rRNA maturation.

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for YBEY Gene

Genomics for YBEY Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for YBEY 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 YBEY on the GeneHancer Hub at the UCSC Golden Path

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

Genomic Locations for YBEY Gene

Genomic Locations for YBEY Gene
chr21:46,286,056-46,314,188
(GRCh38/hg38)
Size:
28,133 bases
Orientation:
Plus strand
chr21:47,706,251-47,717,665
(GRCh37/hg19)
Size:
11,415 bases
Orientation:
Plus strand

Genomic View for YBEY Gene

Genes around YBEY on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for YBEY Gene

Proteins for YBEY Gene

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

    Protein Symbol:
    P58557-YBEY_HUMAN
    Recommended name:
    Endoribonuclease YbeY
    Protein Accession:
    P58557
    Secondary Accessions:
    • B7WPA9
    • B7WPF7
    • D3DSN2

    Protein attributes for YBEY Gene

    Size:
    167 amino acids
    Molecular mass:
    19298 Da
    Cofactor:
    Name=Zn(2+); Xref=ChEBI:CHEBI:29105;
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAK74138.1; Type=Erroneous translation; Note=Wrong choice of CDS.; Evidence={ECO:0000305}; Sequence=AAK74139.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305}; Sequence=AAK74140.1; Type=Erroneous translation; Note=Wrong choice of CDS.; Evidence={ECO:0000305}; Sequence=AAK74141.1; Type=Erroneous translation; Note=Wrong choice of CDS.; Evidence={ECO:0000305};
    Miscellaneous:
    • A protein of the expected size has been detected by antibody binding and Western blot in at least one of the analyzed tissues or cells.

    Alternative splice isoforms for YBEY Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for YBEY Gene

Post-translational modifications for YBEY Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for YBEY Gene

Domains & Families for YBEY Gene

Gene Families for YBEY Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for YBEY Gene

InterPro:
Blocks:
  • Protein of unknown function UPF0054
ProtoNet:

Suggested Antigen Peptide Sequences for YBEY Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ50010 (Q8TBC8_HUMAN)
  • rRNA maturation factor homolog (YBEY_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P58557

UniProtKB/Swiss-Prot:

YBEY_HUMAN :
  • Belongs to the endoribonuclease YbeY family.
Family:
  • Belongs to the endoribonuclease YbeY family.
genes like me logo Genes that share domains with YBEY: view

Function for YBEY Gene

Molecular function for YBEY Gene

UniProtKB/Swiss-Prot Function:
Single strand-specific metallo-endoribonuclease involved in rRNA maturation.

Enzyme Numbers (IUBMB) for YBEY Gene

Phenotypes From GWAS Catalog for YBEY Gene

Gene Ontology (GO) - Molecular Function for YBEY Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004222 metalloendopeptidase activity IEA --
GO:0004518 nuclease activity IEA --
GO:0004519 endonuclease activity IEA --
GO:0004521 endoribonuclease activity IDA 28153719
GO:0016787 hydrolase activity IEA --
genes like me logo Genes that share ontologies with YBEY: view
genes like me logo Genes that share phenotypes with YBEY: view

Animal Model Products

  • Taconic Biosciences Mouse Models for YBEY

CRISPR Products

Inhibitory RNA Products

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

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for YBEY Gene

Localization for YBEY Gene

Subcellular locations from UniProtKB/Swiss-Prot for YBEY 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 YBEY gene
Compartment Confidence
nucleus 5
mitochondrion 3
extracellular 1
cytosol 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for YBEY Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA,IDA 22042635
genes like me logo Genes that share ontologies with YBEY: view

Pathways & Interactions for YBEY Gene

PathCards logo

SuperPathways for YBEY Gene

No Data Available

Gene Ontology (GO) - Biological Process for YBEY Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006364 rRNA processing IEA --
GO:0006508 proteolysis IEA --
GO:0090305 nucleic acid phosphodiester bond hydrolysis IEA --
GO:0090502 RNA phosphodiester bond hydrolysis, endonucleolytic IEA --
genes like me logo Genes that share ontologies with YBEY: view

No data available for Pathways by source and SIGNOR curated interactions for YBEY Gene

Drugs & Compounds for YBEY Gene

No Compound Related Data Available

Transcripts for YBEY Gene

mRNA/cDNA for YBEY Gene

7 REFSEQ mRNAs :
15 NCBI additional mRNA sequence :
8 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

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

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

ExUns: 1a · 1b ^ 2a · 2b ^ 3a · 3b ^ 4a · 4b · 4c ^ 5 ^ 6 ^ 7
SP1: - - - - -
SP2: - - - - - -
SP3: - - -
SP4: - - - -
SP5: - - - - - - -
SP6: - - - -
SP7: - - -
SP8: - -
SP9:

Relevant External Links for YBEY Gene

GeneLoc Exon Structure for
YBEY

Expression for YBEY Gene

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

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

  • Testis (Reproductive System)

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

This gene is overexpressed in Testis (x5.6).

Protein differential expression in normal tissues from HIPED for YBEY Gene

This gene is overexpressed in Lung (49.7), Fetal ovary (10.2), and Testis (9.0).

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



Protein tissue co-expression partners for YBEY Gene

- Elite partner

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

SOURCE GeneReport for Unigene cluster for YBEY Gene:

Hs.474066
genes like me logo Genes that share expression patterns with YBEY: view

No data available for mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for YBEY Gene

Orthologs for YBEY Gene

This gene was present in the common ancestor of chordates.

Orthologs for YBEY Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia YBEY 30 31
  • 99.4 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Ybey 30
  • 83.74 (n)
Mouse
(Mus musculus)
Mammalia Ybey 30 17 31
  • 82.32 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia YBEY 30 31
  • 77.03 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia YBEY 31
  • 75 (a)
OneToOne
Dog
(Canis familiaris)
Mammalia YBEY 30 31
  • 73.17 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia YBEY 31
  • 69 (a)
OneToOne
Chicken
(Gallus gallus)
Aves YBEY 31
  • 57 (a)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia YBEY 31
  • 65 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia ybey 30
  • 60.83 (n)
Zebrafish
(Danio rerio)
Actinopterygii LOC100537917 30
  • 61.28 (n)
ybey 31 31
  • 59 (a)
OneToMany
wufb30h03 30
Rainbow Trout
(Oncorhynchus mykiss)
Actinopterygii Omy.2303 30
Species where no ortholog for YBEY 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)
  • Fruit Fly (Drosophila melanogaster)
  • 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)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (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)

Evolution for YBEY Gene

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

Paralogs for YBEY Gene

Paralogs for YBEY Gene

(1) SIMAP similar genes for YBEY Gene using alignment to 1 proteins:

  • YBEY_HUMAN
genes like me logo Genes that share paralogs with YBEY: view

Variants for YBEY Gene

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

SNP ID Clinical significance and condition Chr 21 pos Variation AA Info Type
rs58271568 Benign: not specified 46,287,125(+) T/TAAAAA INTRON_VARIANT
rs61182475 Benign: not specified 46,287,136(+) T/A INTRON_VARIANT
rs71318063 Benign: not specified 46,302,071(+) A/ATGG INFRAME_INSERTION
rs9975588 Benign: not specified 46,284,982(+) G/A MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for YBEY Gene

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

Variant ID Type Subtype PubMed ID
dgv2516e59 CNV duplication 20981092
dgv7929n54 CNV loss 21841781
esv1185684 CNV insertion 17803354
esv1190668 CNV deletion 17803354
esv2320022 CNV deletion 18987734
esv27873 CNV gain 19812545
esv9428 CNV gain 19470904
nsv1060978 CNV gain 25217958
nsv1110384 CNV duplication 24896259
nsv1142337 CNV tandem duplication 24896259
nsv3547 CNV insertion 18451855
nsv470910 CNV gain 18288195
nsv519904 CNV loss 19592680
nsv527355 CNV gain 19592680
nsv587975 CNV gain 21841781
nsv587977 CNV loss 21841781
nsv587980 CNV loss 21841781
nsv821184 CNV deletion 20802225

Variation tolerance for YBEY Gene

Residual Variation Intolerance Score: 47.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.22; 24.43% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for YBEY Gene

Human Gene Mutation Database (HGMD)
YBEY
SNPedia medical, phenotypic, and genealogical associations of SNPs for
YBEY

SNP Genotyping and Copy Number Assay Products

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

Disorders for YBEY Gene

MalaCards: The human disease database

(1) MalaCards diseases for YBEY Gene - From: DISEASES

Disorder Aliases PubMed IDs
schizophrenia 10
  • sczd10
- elite association - COSMIC cancer census association via MalaCards
Search YBEY in MalaCards View complete list of genes associated with diseases
genes like me logo Genes that share disorders with YBEY: view

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

Publications for YBEY Gene

  1. C21orf57 is a human homologue of bacterial YbeY proteins. (PMID: 28153719) Ghosal A … Walker GC (Biochemical and biophysical research communications 2017) 2 3 4
  2. Antibody-based protein profiling of the human chromosome 21. (PMID: 22042635) Uhlén M … Sivertsson Å (Molecular & cellular proteomics : MCP 2012) 3 4
  3. From PREDs and open reading frames to cDNA isolation: revisiting the human chromosome 21 transcription map. (PMID: 11707072) Reymond A … Antonarakis SE (Genomics 2001) 3 4
  4. The DNA sequence of human chromosome 21. (PMID: 10830953) Hattori M … Chromosome 21 mapping and sequencing consortium (Nature 2000) 3 4
  5. The HIV-1 Tat protein recruits a ubiquitin ligase to reorganize the 7SK snRNP for transcriptional activation. (PMID: 29845934) Faust TB … Frankel AD (eLife 2018) 3

Products for YBEY Gene

Sources for YBEY Gene