Aliases for RSBN1 Gene

Aliases for RSBN1 Gene

  • Round Spermatid Basic Protein 1 2 3 4 5
  • Lysine-Specific Demethylase 9 3 4
  • KDM9 3 4
  • EC 1.14.11.- 4
  • ROSBIN 3

External Ids for RSBN1 Gene

Previous GeneCards Identifiers for RSBN1 Gene

  • GC01M114019
  • GC01M114105
  • GC01M114304
  • GC01M112162

Summaries for RSBN1 Gene

GeneCards Summary for RSBN1 Gene

RSBN1 (Round Spermatid Basic Protein 1) is a Protein Coding gene. An important paralog of this gene is RSBN1L.

UniProtKB/Swiss-Prot Summary for RSBN1 Gene

  • Histone demethylase that specifically demethylates dimethylated 'Lys-20' of histone H4 (H4K20me2), thereby modulating chromosome architecture.

Additional gene information for RSBN1 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for RSBN1 Gene

Genomics for RSBN1 Gene

GeneHancer (GH) Regulatory Elements for RSBN1 Gene

Promoters and enhancers for RSBN1 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 RSBN1 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for RSBN1

Top Transcription factor binding sites by QIAGEN in the RSBN1 gene promoter:
  • AhR
  • COMP1
  • Egr-4
  • GATA-2
  • LCR-F1
  • LUN-1
  • Pax-4a
  • STAT1
  • STAT1alpha
  • STAT1beta

Genomic Locations for RSBN1 Gene

Genomic Locations for RSBN1 Gene
chr1:113,761,832-113,812,476
(GRCh38/hg38)
Size:
50,645 bases
Orientation:
Minus strand
chr1:114,304,454-114,355,098
(GRCh37/hg19)
Size:
50,645 bases
Orientation:
Minus strand

Genomic View for RSBN1 Gene

Genes around RSBN1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
RSBN1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for RSBN1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for RSBN1 Gene

Proteins for RSBN1 Gene

  • Protein details for RSBN1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q5VWQ0-RSBN1_HUMAN
    Recommended name:
    Lysine-specific demethylase 9
    Protein Accession:
    Q5VWQ0
    Secondary Accessions:
    • A8K937
    • Q6AI21
    • Q8TC33
    • Q9HA80
    • Q9NUP6

    Protein attributes for RSBN1 Gene

    Size:
    802 amino acids
    Molecular mass:
    90072 Da
    Cofactor:
    Name=Fe(2+); Xref=ChEBI:CHEBI:29033;
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAH26155.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=BAA92075.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=BAB13974.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=CAH10493.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=CAH10493.1; Type=Miscellaneous discrepancy; Note=Aberrant splicing.; Evidence={ECO:0000305};

    Alternative splice isoforms for RSBN1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for RSBN1 Gene

Post-translational modifications for RSBN1 Gene

Other Protein References for RSBN1 Gene

No data available for DME Specific Peptides for RSBN1 Gene

Domains & Families for RSBN1 Gene

Gene Families for RSBN1 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for RSBN1 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for RSBN1 Gene

GenScript: Design optimal peptide antigens:
  • Round spermatid basic protein 1 (RSBN1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q5VWQ0

UniProtKB/Swiss-Prot:

RSBN1_HUMAN :
  • Belongs to the round spermatid basic protein 1 family.
Family:
  • Belongs to the round spermatid basic protein 1 family.
genes like me logo Genes that share domains with RSBN1: view

Function for RSBN1 Gene

Molecular function for RSBN1 Gene

UniProtKB/Swiss-Prot Function:
Histone demethylase that specifically demethylates dimethylated 'Lys-20' of histone H4 (H4K20me2), thereby modulating chromosome architecture.

Enzyme Numbers (IUBMB) for RSBN1 Gene

Phenotypes From GWAS Catalog for RSBN1 Gene

Gene Ontology (GO) - Molecular Function for RSBN1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016491 oxidoreductase activity IEA --
GO:0046872 metal ion binding IEA --
GO:0051213 dioxygenase activity IEA --
genes like me logo Genes that share ontologies with RSBN1: view
genes like me logo Genes that share phenotypes with RSBN1: view

Animal Models for RSBN1 Gene

MGI Knock Outs for RSBN1:
  • Rsbn1 Rsbn1<tm1b(EUCOMM)Wtsi>

Animal Model Products

CRISPR Products

miRNA for RSBN1 Gene

miRTarBase miRNAs that target RSBN1

Clone Products

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for RSBN1 Gene

Localization for RSBN1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for RSBN1 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 RSBN1 gene
Compartment Confidence
nucleus 4
cytosol 3
cytoskeleton 1
mitochondrion 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoplasm (3)
  • Nuclear bodies (2)
  • Vesicles (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for RSBN1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IBA 21873635
genes like me logo Genes that share ontologies with RSBN1: view

Pathways & Interactions for RSBN1 Gene

PathCards logo

SuperPathways for RSBN1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for RSBN1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006325 chromatin organization IEA --
GO:0055114 oxidation-reduction process IEA --
genes like me logo Genes that share ontologies with RSBN1: view

No data available for Pathways by source and SIGNOR curated interactions for RSBN1 Gene

Drugs & Compounds for RSBN1 Gene

No Compound Related Data Available

Transcripts for RSBN1 Gene

mRNA/cDNA for RSBN1 Gene

1 REFSEQ mRNAs :
10 NCBI additional mRNA sequence :
6 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for RSBN1 Gene

No ASD Table

Relevant External Links for RSBN1 Gene

GeneLoc Exon Structure for
RSBN1

Expression for RSBN1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for RSBN1 Gene

Protein differential expression in normal tissues from HIPED for RSBN1 Gene

This gene is overexpressed in Adrenal (15.8), Adipocyte (12.5), Lung (8.8), and Peripheral blood mononuclear cells (8.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for RSBN1 Gene



Protein tissue co-expression partners for RSBN1 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for RSBN1

SOURCE GeneReport for Unigene cluster for RSBN1 Gene:

Hs.486285

Evidence on tissue expression from TISSUES for RSBN1 Gene

  • Nervous system(3.3)
genes like me logo Genes that share expression patterns with RSBN1: view

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 RSBN1 Gene

Orthologs for RSBN1 Gene

This gene was present in the common ancestor of animals.

Orthologs for RSBN1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia RSBN1 31 30
  • 99.71 (n)
OneToOne
dog
(Canis familiaris)
Mammalia RSBN1 31 30
  • 95.71 (n)
OneToOne
cow
(Bos Taurus)
Mammalia RSBN1 31 30
  • 95.55 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Rsbn1 30
  • 93.49 (n)
mouse
(Mus musculus)
Mammalia Rsbn1 17 31 30
  • 93.37 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia RSBN1 31
  • 90 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia RSBN1 31
  • 81 (a)
OneToOne
chicken
(Gallus gallus)
Aves RSBN1 31 30
  • 81.59 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia RSBN1 31
  • 73 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia rsbn1 30
  • 72.77 (n)
zebrafish
(Danio rerio)
Actinopterygii LOC100330644 30
  • 67.04 (n)
RSBN1 31
  • 56 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG10600 31
  • 16 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea dpy-21 31
  • 11 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.789 31
  • 55 (a)
OneToMany
Species where no ortholog for RSBN1 was found in the sources mined by GeneCards:
  • 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)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • 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 RSBN1 Gene

ENSEMBL:
Gene Tree for RSBN1 (if available)
TreeFam:
Gene Tree for RSBN1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for RSBN1: view image

Paralogs for RSBN1 Gene

Paralogs for RSBN1 Gene

(1) SIMAP similar genes for RSBN1 Gene using alignment to 2 proteins:

  • RSBN1_HUMAN
  • H0YDA9_HUMAN
genes like me logo Genes that share paralogs with RSBN1: view

Variants for RSBN1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for RSBN1 Gene

SNP ID Clinical significance and condition Chr 01 pos Variation AA Info Type
791807 Benign: not provided 113,768,335(-) G/A NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT

Additional dbSNP identifiers (rs#s) for RSBN1 Gene

Structural Variations from Database of Genomic Variants (DGV) for RSBN1 Gene

Variant ID Type Subtype PubMed ID
esv23869 CNV loss 19812545
esv2461577 CNV deletion 19546169
esv3587239 CNV loss 21293372
esv3587240 CNV loss 21293372
esv3587247 CNV loss 21293372
esv3587248 CNV gain 21293372
esv3587249 CNV loss 21293372
nsv820192 CNV loss 19587683
nsv831093 CNV loss 17160897

Variation tolerance for RSBN1 Gene

Residual Variation Intolerance Score: 11% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.14; 23.02% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for RSBN1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
RSBN1

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for RSBN1 Gene

Disorders for RSBN1 Gene

Additional Disease Information for RSBN1

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

No disorders were found for RSBN1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for RSBN1 Gene

Publications for RSBN1 Gene

  1. PTPN22 Trp620 explains the association of chromosome 1p13 with type 1 diabetes and shows a statistical interaction with HLA class II genotypes. (PMID: 18305142) Smyth DJ … Todd JA (Diabetes 2008) 3 23 41 54
  2. Dynamic Control of X Chromosome Conformation and Repression by a Histone H4K20 Demethylase. (PMID: 28867287) Brejc K … Meyer BJ (Cell 2017) 2 3 54
  3. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 41 54
  4. Variants in TNFAIP3, STAT4, and C12orf30 loci associated with multiple autoimmune diseases are also associated with juvenile idiopathic arthritis. (PMID: 19565500) Prahalad S … Jorde LB (Arthritis and rheumatism 2009) 3 41 54
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 54

Products for RSBN1 Gene

Sources for RSBN1 Gene