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Aliases for RBMS1 Gene

Aliases for RBMS1 Gene

  • RNA Binding Motif Single Stranded Interacting Protein 1 2 3
  • RNA Binding Motif, Single Stranded Interacting Protein 1 3 5
  • Suppressor Of Cdc 2 (Cdc13) With RNA Binding Motif 2 2 3
  • Suppressor Of CDC2 With RNA-Binding Motif 2 3 4
  • C-Myc Gene Single Strand Binding Protein 2 2 3
  • Single-Stranded DNA-Binding Protein MSSP-1 3 4
  • C2orf12 3 4
  • MSSP 3 4
  • SCR2 3 4
  • Chromosome 2 Open Reading Frame 12 2
  • Cervical Cancer Oncogene 4 3
  • MSSP-1 3
  • MSSP-2 3
  • MSSP-3 3
  • HCC-4 3
  • MSSP1 4
  • YC1 3

External Ids for RBMS1 Gene

Previous HGNC Symbols for RBMS1 Gene

  • C2orf12

Previous GeneCards Identifiers for RBMS1 Gene

  • GC02M159061
  • GC02M159659
  • GC02M161094
  • GC02M161333
  • GC02M160956
  • GC02M160838
  • GC02M153011
  • GC02M161128

Summaries for RBMS1 Gene

Entrez Gene Summary for RBMS1 Gene

  • This gene encodes a member of a small family of proteins which bind single stranded DNA/RNA. These proteins are characterized by the presence of two sets of ribonucleoprotein consensus sequence (RNP-CS) that contain conserved motifs, RNP1 and RNP2, originally described in RNA binding proteins, and required for DNA binding. These proteins have been implicated in such diverse functions as DNA replication, gene transcription, cell cycle progression and apoptosis. Several transcript variants, resulting from alternative splicing and encoding different isoforms, have been described. A pseudogene for this locus is found on chromosome 12. [provided by RefSeq, Feb 2009]

GeneCards Summary for RBMS1 Gene

RBMS1 (RNA Binding Motif Single Stranded Interacting Protein 1) is a Protein Coding gene. Diseases associated with RBMS1 include blue toe syndrome. GO annotations related to this gene include nucleic acid binding and RNA binding. An important paralog of this gene is PABPC1L2A.

UniProtKB/Swiss-Prot for RBMS1 Gene

  • Single-stranded DNA binding protein that interacts with the region upstream of the MYC gene. Binds specifically to the DNA sequence motif 5-[AT]CT[AT][AT]T-3. Probably has a role in DNA replication.

Gene Wiki entry for RBMS1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for RBMS1 Gene

Genomics for RBMS1 Gene

Regulatory Elements for RBMS1 Gene

Enhancers for RBMS1 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around RBMS1 on UCSC Golden Path with GeneCards custom track

Promoters for RBMS1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around RBMS1 on UCSC Golden Path with GeneCards custom track

Genomic Location for RBMS1 Gene

Chromosome:
2
Start:
160,272,151 bp from pter
End:
160,493,856 bp from pter
Size:
221,706 bases
Orientation:
Minus strand

Genomic View for RBMS1 Gene

Genes around RBMS1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
RBMS1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for RBMS1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for RBMS1 Gene

Proteins for RBMS1 Gene

  • Protein details for RBMS1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P29558-RBMS1_HUMAN
    Recommended name:
    RNA-binding motif, single-stranded-interacting protein 1
    Protein Accession:
    P29558
    Secondary Accessions:
    • Q14869
    • Q15433
    • Q53P46
    • Q53QX8
    • Q53RG6
    • Q8WV20

    Protein attributes for RBMS1 Gene

    Size:
    406 amino acids
    Molecular mass:
    44505 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAX93095.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=CAA45923.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=CAA45923.1; Type=Frameshift; Positions=319, 360; Evidence={ECO:0000305}; Sequence=CAA54628.1; Type=Erroneous translation; Note=Wrong coding sequence.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for RBMS1 Gene

    Alternative splice isoforms for RBMS1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for RBMS1 Gene

Proteomics data for RBMS1 Gene at MOPED

Post-translational modifications for RBMS1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for RBMS1 Gene

No data available for DME Specific Peptides for RBMS1 Gene

Domains & Families for RBMS1 Gene

Gene Families for RBMS1 Gene

Graphical View of Domain Structure for InterPro Entry

P29558

UniProtKB/Swiss-Prot:

RBMS1_HUMAN :
  • Contains 2 RRM (RNA recognition motif) domains.
Domain:
  • Contains 2 RRM (RNA recognition motif) domains.
genes like me logo Genes that share domains with RBMS1: view

Function for RBMS1 Gene

Molecular function for RBMS1 Gene

UniProtKB/Swiss-Prot Function:
Single-stranded DNA binding protein that interacts with the region upstream of the MYC gene. Binds specifically to the DNA sequence motif 5-[AT]CT[AT][AT]T-3. Probably has a role in DNA replication.

Gene Ontology (GO) - Molecular Function for RBMS1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IEA --
GO:0003676 nucleic acid binding IEA --
GO:0003690 double-stranded DNA binding NAS 7838710
GO:0003697 single-stranded DNA binding NAS 7838710
GO:0003723 RNA binding IEA,NAS 8041632
genes like me logo Genes that share ontologies with RBMS1: view
genes like me logo Genes that share phenotypes with RBMS1: view

Animal Models for RBMS1 Gene

MGI Knock Outs for RBMS1:

Animal Model Products

Inhibitory RNA Products

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for RBMS1 Gene

Localization for RBMS1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for RBMS1 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for RBMS1 Gene COMPARTMENTS Subcellular localization image for RBMS1 gene
Compartment Confidence
nucleus 5
cytosol 3
endoplasmic reticulum 1
extracellular 1
mitochondrion 1
plasma membrane 1

No data available for Gene Ontology (GO) - Cellular Components for RBMS1 Gene

Pathways & Interactions for RBMS1 Gene

SuperPathways for RBMS1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for RBMS1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006396 RNA processing TAS 8041632
genes like me logo Genes that share ontologies with RBMS1: view

No data available for Pathways by source and SIGNOR curated interactions for RBMS1 Gene

Drugs & Compounds for RBMS1 Gene

No Compound Related Data Available

Transcripts for RBMS1 Gene

Unigene Clusters for RBMS1 Gene

RNA binding motif, single stranded interacting protein 1:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for RBMS1 Gene

No ASD Table

Relevant External Links for RBMS1 Gene

GeneLoc Exon Structure for
RBMS1
ECgene alternative splicing isoforms for
RBMS1

Expression for RBMS1 Gene

mRNA expression in normal human tissues for RBMS1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for RBMS1 Gene

This gene is overexpressed in Lung (14.4), Placenta (13.5), Bone marrow stromal cell (10.9), Peripheral blood mononuclear cells (7.7), Fetal testis (7.5), and Liver (6.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for RBMS1 Gene



SOURCE GeneReport for Unigene cluster for RBMS1 Gene Hs.470412

mRNA Expression by UniProt/SwissProt for RBMS1 Gene

P29558-RBMS1_HUMAN
Tissue specificity: Highest amounts are found in placenta, lung and heart.
genes like me logo Genes that share expression patterns with RBMS1: view

Protein tissue co-expression partners for RBMS1 Gene

In Situ Assay Products

No data available for mRNA differential expression in normal tissues for RBMS1 Gene

Orthologs for RBMS1 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for RBMS1 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia RBMS1 35
  • 93.63 (n)
  • 98.76 (a)
RBMS1 36
  • 99 (a)
OneToOne
dog
(Canis familiaris)
Mammalia RBMS1 35
  • 94.4 (n)
  • 98.16 (a)
RBMS1 36
  • 92 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Rbms1 35
  • 90.9 (n)
  • 96.77 (a)
Rbms1 16
Rbms1 36
  • 88 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia RBMS1 35
  • 99.75 (n)
  • 100 (a)
RBMS1 36
  • 96 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Rbms1 35
  • 91.56 (n)
  • 97.02 (a)
oppossum
(Monodelphis domestica)
Mammalia RBMS1 36
  • 94 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia RBMS1 36
  • 91 (a)
OneToOne
chicken
(Gallus gallus)
Aves RBMS1 35
  • 84.75 (n)
  • 92.9 (a)
RBMS1 36
  • 93 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia RBMS1 36
  • 75 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia rbms1 35
  • 81.81 (n)
  • 89.63 (a)
Str.7567 35
African clawed frog
(Xenopus laevis)
Amphibia rbms1-prov 35
zebrafish
(Danio rerio)
Actinopterygii rbms1a 35
  • 70.4 (n)
  • 74.71 (a)
RBMS1 (1 of 2) 36
  • 70 (a)
OneToMany
rbms1a 36
  • 70 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta shep 36
  • 30 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea R10E4.2a 37
  • 57 (a)
R10E4.2b 37
  • 59 (a)
sup-26 36
  • 29 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes PAB1 36
  • 13 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.1122 36
  • 43 (a)
OneToMany
Species with no ortholog for RBMS1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • 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 RBMS1 Gene

ENSEMBL:
Gene Tree for RBMS1 (if available)
TreeFam:
Gene Tree for RBMS1 (if available)

Paralogs for RBMS1 Gene

(11) SIMAP similar genes for RBMS1 Gene using alignment to 5 proteins:

Pseudogenes.org Pseudogenes for RBMS1 Gene

genes like me logo Genes that share paralogs with RBMS1: view

Variants for RBMS1 Gene

Sequence variations from dbSNP and Humsavar for RBMS1 Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type
rs716614 -- 160,280,362(-) GTGAT(A/G)AAATA intron-variant
rs716615 -- 160,280,479(-) TTTTA(A/G)AGTGG intron-variant
rs1563575 -- 160,275,183(+) GTTGG(A/G)AATAT intron-variant
rs1870105 -- 160,282,141(-) GGAAA(C/T)TGAAA intron-variant
rs1870106 -- 160,278,489(-) TGCAG(C/G)CTGTA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for RBMS1 Gene

Variant ID Type Subtype PubMed ID
dgv743e199 CNV Deletion 23128226
esv2721039 CNV Deletion 23290073
esv2721041 CNV Deletion 23290073
esv991493 CNV Deletion 20482838
esv1606282 CNV Deletion 17803354
nsv821774 CNV Gain 20364138
nsv2998 CNV Insertion 18451855
esv2672047 CNV Deletion 23128226
nsv3000 CNV Insertion 18451855
nsv3001 CNV Loss 18451855

Variation tolerance for RBMS1 Gene

Residual Variation Intolerance Score: 16.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.57; 12.26% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for RBMS1 Gene

HapMap Linkage Disequilibrium report
RBMS1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for RBMS1 Gene

Disorders for RBMS1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for RBMS1 Gene - From: DISEASES

Disorder Aliases PubMed IDs
blue toe syndrome
- elite association - COSMIC cancer census association via MalaCards
Search RBMS1 in MalaCards View complete list of genes associated with diseases

Relevant External Links for RBMS1

Genetic Association Database (GAD)
RBMS1
Human Genome Epidemiology (HuGE) Navigator
RBMS1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
RBMS1
genes like me logo Genes that share disorders with RBMS1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for RBMS1 Gene

Publications for RBMS1 Gene

  1. Molecular cloning of MSSP-2, a c-myc gene single-strand binding protein: characterization of binding specificity and DNA replication activity. (PMID: 7838710) Takai T. … Ariga H. (Nucleic Acids Res. 1994) 2 3 4 23 67
  2. Identification and cDNA cloning of single-stranded DNA binding proteins that interact with the region upstream of the human c-myc gene. (PMID: 8134115) Negishi Y. … Ariga H. (Oncogene 1994) 2 3 23
  3. MSSP, a protein binding to an origin of replication in the c-myc gene, interacts with a catalytic subunit of DNA polymerase alpha and stimulates its polymerase activity. (PMID: 10869558) Niki T. … Iguchi-Ariga S.M. (FEBS Lett. 2000) 3 23
  4. Cloning and characterization of the genomic DNA of the human MSSP genes. (PMID: 8871567) Haigermoser C. … Ariga H. (Nucleic Acids Res. 1996) 3 23
  5. SCR: novel human suppressors of cdc2/cdc13 mutants of Schizosaccharomyces pombe harbour motifs for RNA binding proteins. (PMID: 8041632) Kanaoka Y. … Nojima H. (Nucleic Acids Res. 1994) 2 3

Products for RBMS1 Gene

Sources for RBMS1 Gene

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