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Aliases for RSBN1 Gene

Aliases for RSBN1 Gene

  • Round Spermatid Basic Protein 1 2 3 5
  • 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.

Additional gene information for RSBN1 Gene

No data available for Entrez Gene Summary , CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for RSBN1 Gene

Genomics for RSBN1 Gene

Regulatory Elements for RSBN1 Gene

Enhancers for RSBN1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH01H113927 1.7 FANTOM5 ENCODE dbSUPER 21.4 -119.4 -119433 8 MLX ZFP64 FEZF1 DMAP1 YY1 ZNF143 SP3 NFYC ZC3H11A SSRP1 TRIM33 LOC100421402 LRIG2 RSBN1 DCLRE1B OLFML3 AP4B1 SIKE1 AP4B1-AS1 HIPK1
GH01H114508 1.7 FANTOM5 ENCODE dbSUPER 20.4 -698.6 -698614 4 HDGF PKNOX1 ARID4B SIN3A YBX1 DMAP1 ZNF2 YY1 SLC30A9 ZNF766 TRIM33 SIKE1 RSBN1 AP4B1 OLFML3 TSHB BCAS2 ENSG00000201114
GH01H113779 1.8 FANTOM5 Ensembl ENCODE dbSUPER 19.1 +29.3 29289 6 HDGF PKNOX1 ATF1 FEZF1 TCF12 ELK1 ATF7 RUNX3 JUNB SMARCA4 RSBN1 PHTF1 ENSG00000231128 AP4B1 MAGI3 PTPN22 HIPK1 PIR59903
GH01H112934 1.5 Ensembl ENCODE dbSUPER 19 +876.0 875953 4 HDGF ATF1 ARNT ZNF133 GLI4 ZNF2 TCF12 GTF3C2 ZNF766 GATA2 LOC100421402 LRIG2 ST7L SLC16A1 RSBN1 AKR7A2P1 SLC16A1-AS1
GH01H112953 1.2 ENCODE 21 +856.5 856468 4 HDGF PKNOX1 MLX ARNT ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF143 LOC100421402 RSBN1 CAPZA1 ST7L RPS15P1 LOC105378910 LRIG2 SLC16A1 SLC16A1-AS1 AKR7A2P1
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around RSBN1 on UCSC Golden Path with GeneCards custom track

Promoters for RSBN1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000011619 1076 3201 FEZF1 DMAP1 YY1 SLC30A9 ZNF143 SP3 NFYC ZC3H11A ZNF610 NBN

Genomic Location for RSBN1 Gene

Chromosome:
1
Start:
113,761,832 bp from pter
End:
113,812,476 bp from pter
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:
    Round spermatid basic protein 1
    Protein Accession:
    Q5VWQ0
    Secondary Accessions:
    • A8K937
    • Q6AI21
    • Q8TC33
    • Q9HA80
    • Q9NUP6

    Protein attributes for RSBN1 Gene

    Size:
    802 amino acids
    Molecular mass:
    90072 Da
    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=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=CAH10493.1; Type=Miscellaneous discrepancy; Note=Aberrant splicing.; Evidence={ECO:0000305}; Sequence=CAH72507.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=CAI19067.1; Type=Erroneous initiation; 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:

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

Phenotypes From GWAS Catalog for RSBN1 Gene

genes like me logo Genes that share phenotypes with RSBN1: view

Animal Models for RSBN1 Gene

MGI Knock Outs for RSBN1:

Animal Model Products

CRISPR Products

miRNA for RSBN1 Gene

miRTarBase miRNAs that target RSBN1

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for RSBN1
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , 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 5
cytosol 3
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 IEA --
genes like me logo Genes that share ontologies with RSBN1: view

Pathways & Interactions for RSBN1 Gene

SuperPathways for RSBN1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for RSBN1 Gene

None

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

Unigene Clusters for RSBN1 Gene

Round spermatid basic protein 1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for RSBN1
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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

No ASD Table

Relevant External Links for RSBN1 Gene

GeneLoc Exon Structure for
RSBN1
ECgene alternative splicing isoforms for
RSBN1

Expression for RSBN1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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, PaxDb, MaxQB, and MOPED for RSBN1 Gene



Protein tissue co-expression partners for RSBN1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of RSBN1 Gene:

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

Primer Products

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 33 34
  • 99.71 (n)
dog
(Canis familiaris)
Mammalia RSBN1 33 34
  • 95.71 (n)
cow
(Bos Taurus)
Mammalia RSBN1 33 34
  • 95.55 (n)
rat
(Rattus norvegicus)
Mammalia Rsbn1 33
  • 93.49 (n)
mouse
(Mus musculus)
Mammalia Rsbn1 33 16 34
  • 93.37 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia RSBN1 34
  • 90 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia RSBN1 34
  • 81 (a)
OneToOne
chicken
(Gallus gallus)
Aves RSBN1 33 34
  • 81.59 (n)
lizard
(Anolis carolinensis)
Reptilia RSBN1 34
  • 73 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia rsbn1 33
  • 72.77 (n)
zebrafish
(Danio rerio)
Actinopterygii LOC100330644 33
  • 67.04 (n)
RSBN1 34
  • 56 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG10600 34
  • 16 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea dpy-21 34
  • 11 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.789 34
  • 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)

Paralogs for RSBN1 Gene

Paralogs for RSBN1 Gene

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

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

Variants for RSBN1 Gene

Sequence variations from dbSNP and Humsavar for RSBN1 Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type
rs1000067145 -- 113,812,982(+) TCCTG(A/G)TGAGG intron-variant, upstream-variant-2KB
rs1000106716 -- 113,765,602(+) TATTT(A/G)TCCAT nc-transcript-variant, utr-variant-3-prime
rs1000121326 -- 113,806,629(+) TGATC(C/T)ATTAA intron-variant
rs1000134467 -- 113,771,738(+) AATAA(A/G)TAAAA intron-variant
rs1000152370 -- 113,806,979(+) CTGTG(C/T)TGCAG intron-variant

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)

Relevant External Links for RSBN1 Gene

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

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

Disorders for RSBN1 Gene

Relevant External Links for RSBN1

Genetic Association Database (GAD)
RSBN1
Human Genome Epidemiology (HuGE) Navigator
RSBN1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
RSBN1

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 22 45 60
  2. 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 45 60
  3. 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 45 60
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 60
  5. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PMID: 12477932) Strausberg RL … Mammalian Gene Collection Program Team (Proceedings of the National Academy of Sciences of the United States of America 2002) 2 3 60

Products for RSBN1 Gene

Sources for RSBN1 Gene

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