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Aliases for RSRC1 Gene

Aliases for RSRC1 Gene

  • Arginine And Serine Rich Coiled-Coil 1 2 3 5
  • Arginine/Serine-Rich Coiled-Coil Protein 1 3 4
  • Splicing Factor, Arginine/Serine-Rich 21 2 3
  • Arginine/Serine-Rich Coiled-Coil 1 2 3
  • SRrp53 3 4
  • Serine/Arginine-Related Protein 53 3
  • BM-011 3
  • SFRS21 3

External Ids for RSRC1 Gene

Previous GeneCards Identifiers for RSRC1 Gene

  • GC03P159311
  • GC03P157823
  • GC03P155224

Summaries for RSRC1 Gene

Entrez Gene Summary for RSRC1 Gene

  • This gene encodes a member of the serine and arginine rich-related protein family. The encoded protein is involved in both constitutive and alternative mRNA splicing. This gene may be associated with schizophrenia. A pseudogene of this gene is located on chromosome 9. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Nov 2012]

GeneCards Summary for RSRC1 Gene

RSRC1 (Arginine And Serine Rich Coiled-Coil 1) is a Protein Coding gene. Diseases associated with RSRC1 include Schizophrenia.

UniProtKB/Swiss-Prot for RSRC1 Gene

  • Plays a role in pre-mRNA splicing. Involved in both constitutive and alternative pre-mRNA splicing. May have a role in the recognition of the 3 splice site during the second step of splicing.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for RSRC1 Gene

Genomics for RSRC1 Gene

Regulatory Elements for RSRC1 Gene

Enhancers for RSRC1 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
- Elite enhancer/Elite enhancer-gene association

Enhancers around RSRC1 on UCSC Golden Path with GeneCards custom track

Promoters for RSRC1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around RSRC1 on UCSC Golden Path with GeneCards custom track

Genomic Location for RSRC1 Gene

Chromosome:
3
Start:
158,105,855 bp from pter
End:
158,545,730 bp from pter
Size:
439,876 bases
Orientation:
Plus strand

Genomic View for RSRC1 Gene

Genes around RSRC1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
RSRC1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for RSRC1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for RSRC1 Gene

Proteins for RSRC1 Gene

  • Protein details for RSRC1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96IZ7-RSRC1_HUMAN
    Recommended name:
    Serine/Arginine-related protein 53
    Protein Accession:
    Q96IZ7
    Secondary Accessions:
    • A8K2R9
    • Q96QK2
    • Q9NZE5

    Protein attributes for RSRC1 Gene

    Size:
    334 amino acids
    Molecular mass:
    38677 Da
    Quaternary structure:
    • Interacts (via Arg/Ser-rich domain) with LUC7L3, RBM39 and RSF1.
    SequenceCaution:
    • Sequence=AAF64267.1; Type=Frameshift; Positions=159, 166, 174, 178; Evidence={ECO:0000305};

    Alternative splice isoforms for RSRC1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for RSRC1 Gene

Post-translational modifications for RSRC1 Gene

No data available for DME Specific Peptides for RSRC1 Gene

Domains & Families for RSRC1 Gene

Protein Domains for RSRC1 Gene

ProtoNet:

Suggested Antigen Peptide Sequences for RSRC1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with RSRC1: view

No data available for Gene Families and UniProtKB/Swiss-Prot for RSRC1 Gene

Function for RSRC1 Gene

Molecular function for RSRC1 Gene

UniProtKB/Swiss-Prot Function:
Plays a role in pre-mRNA splicing. Involved in both constitutive and alternative pre-mRNA splicing. May have a role in the recognition of the 3 splice site during the second step of splicing.

Gene Ontology (GO) - Molecular Function for RSRC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IEA,IPI 15798186
genes like me logo Genes that share ontologies with RSRC1: view
genes like me logo Genes that share phenotypes with RSRC1: view

Animal Model Products

CRISPR Products

miRNA for RSRC1 Gene

miRTarBase miRNAs that target RSRC1

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for RSRC1 Gene

Localization for RSRC1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for RSRC1 Gene

Nucleus. Nucleus speckle. Cytoplasm. Note=Shuttles between the nucleus and cytoplasm. {ECO:0000250}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for RSRC1 Gene COMPARTMENTS Subcellular localization image for RSRC1 gene
Compartment Confidence
nucleus 5
cytosol 2

Gene Ontology (GO) - Cellular Components for RSRC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA,ISS --
GO:0005737 cytoplasm IEA,ISS --
GO:0016607 nuclear speck IEA,ISS --
genes like me logo Genes that share ontologies with RSRC1: view

Pathways & Interactions for RSRC1 Gene

SuperPathways for RSRC1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for RSRC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000380 alternative mRNA splicing, via spliceosome IEA --
GO:0000398 mRNA splicing, via spliceosome IDA 15798186
GO:0006468 protein phosphorylation IEA --
GO:0006913 nucleocytoplasmic transport IEA,ISS --
GO:0008380 RNA splicing IDA 15798186
genes like me logo Genes that share ontologies with RSRC1: view

No data available for Pathways by source and SIGNOR curated interactions for RSRC1 Gene

Drugs & Compounds for RSRC1 Gene

No Compound Related Data Available

Transcripts for RSRC1 Gene

Unigene Clusters for RSRC1 Gene

Arginine/serine-rich coiled-coil 1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for RSRC1 Gene

No ASD Table

Relevant External Links for RSRC1 Gene

GeneLoc Exon Structure for
RSRC1
ECgene alternative splicing isoforms for
RSRC1

Expression for RSRC1 Gene

mRNA expression in normal human tissues for RSRC1 Gene

Protein differential expression in normal tissues from HIPED for RSRC1 Gene

This gene is overexpressed in Adipocyte (38.8) and Heart (9.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for RSRC1 Gene



Protein tissue co-expression partners for RSRC1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of RSRC1 Gene:

RSRC1

SOURCE GeneReport for Unigene cluster for RSRC1 Gene:

Hs.591283
genes like me logo Genes that share expression patterns with RSRC1: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for RSRC1 Gene

Orthologs for RSRC1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for RSRC1 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia RSRC1 34
  • 93.11 (n)
  • 95.81 (a)
RSRC1 35
  • 96 (a)
OneToOne
dog
(Canis familiaris)
Mammalia RSRC1 34
  • 91.92 (n)
  • 94.61 (a)
RSRC1 35
  • 95 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Rsrc1 34
  • 88.83 (n)
  • 90.91 (a)
Rsrc1 16
Rsrc1 35
  • 92 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia RSRC1 34
  • 99.8 (n)
  • 100 (a)
rat
(Rattus norvegicus)
Mammalia Rsrc1 34
  • 87.52 (n)
  • 92.81 (a)
oppossum
(Monodelphis domestica)
Mammalia RSRC1 35
  • 74 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia RSRC1 35
  • 58 (a)
OneToOne
chicken
(Gallus gallus)
Aves RSRC1 35
  • 80 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia RSRC1 35
  • 77 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.2949 34
African clawed frog
(Xenopus laevis)
Amphibia Xl.23860 34
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.1259 34
zebrafish
(Danio rerio)
Actinopterygii rsrc1 35
  • 56 (a)
OneToOne
Species where no ortholog for RSRC1 was found in the sources mined by GeneCards:
  • 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)
  • 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 squirt (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 RSRC1 Gene

ENSEMBL:
Gene Tree for RSRC1 (if available)
TreeFam:
Gene Tree for RSRC1 (if available)

Paralogs for RSRC1 Gene

Pseudogenes.org Pseudogenes for RSRC1 Gene

genes like me logo Genes that share paralogs with RSRC1: view

No data available for Paralogs for RSRC1 Gene

Variants for RSRC1 Gene

Sequence variations from dbSNP and Humsavar for RSRC1 Gene

SNP ID Clin Chr 03 pos Sequence Context AA Info Type
rs844119 -- 158,295,434(-) AAAAT(A/G)TAAAC intron-variant
rs844141 -- 158,198,588(-) agacc(A/G)tcgag intron-variant
rs844142 -- 158,198,112(-) acaca(A/T)taata intron-variant
rs852110 -- 158,206,584(-) TCATA(C/T)CCCAT intron-variant
rs852325 -- 158,198,146(-) gtcct(C/T)agaga intron-variant

Structural Variations from Database of Genomic Variants (DGV) for RSRC1 Gene

Variant ID Type Subtype PubMed ID
dgv4929n100 CNV loss 25217958
dgv892e199 CNV deletion 23128226
dgv947e214 CNV loss 21293372
esv1640604 CNV insertion 17803354
esv2357327 CNV deletion 18987734
esv2502281 CNV deletion 19546169
esv2726099 CNV deletion 23290073
esv2760751 CNV loss 21179565
esv2763312 CNV gain 21179565
esv28868 CNV loss 19812545
esv3306639 CNV mobile element insertion 20981092
esv3307002 CNV mobile element insertion 20981092
esv3327235 CNV insertion 20981092
esv3345873 CNV insertion 20981092
esv3346857 CNV insertion 20981092
esv3365385 CNV insertion 20981092
esv3401043 CNV insertion 20981092
esv3404234 CNV insertion 20981092
esv3411597 CNV insertion 20981092
esv3562777 CNV deletion 23714750
esv3598329 CNV gain 21293372
esv3598332 CNV loss 21293372
esv3598333 CNV loss 21293372
esv3598337 CNV gain 21293372
esv6140 CNV loss 19470904
esv8211 CNV gain 19470904
nsv1000904 CNV loss 25217958
nsv1004124 CNV gain 25217958
nsv1014381 CNV gain 25217958
nsv1117036 CNV deletion 24896259
nsv1133327 CNV tandem duplication 24896259
nsv1149262 CNV deletion 26484159
nsv472700 CNV novel sequence insertion 20440878
nsv520244 CNV loss 19592680
nsv829768 CNV gain 17160897
nsv955534 CNV deletion 24416366
nsv965227 CNV duplication 23825009

Variation tolerance for RSRC1 Gene

Residual Variation Intolerance Score: 53% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.37; 27.13% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for RSRC1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
RSRC1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for RSRC1 Gene

Disorders for RSRC1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for RSRC1 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
schizophrenia
  • schizophrenia 12
- elite association - COSMIC cancer census association via MalaCards
Search RSRC1 in MalaCards View complete list of genes associated with diseases

Relevant External Links for RSRC1

Genetic Association Database (GAD)
RSRC1
Human Genome Epidemiology (HuGE) Navigator
RSRC1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
RSRC1
genes like me logo Genes that share disorders with RSRC1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for RSRC1 Gene

Publications for RSRC1 Gene

  1. Gene discovery through imaging genetics: identification of two novel genes associated with schizophrenia. (PMID: 19065146) Potkin S.G. … Macciardi F. (Mol. Psychiatry 2009) 2 3 46 65
  2. A novel SR-related protein is required for the second step of pre- mRNA splicing. (PMID: 15798186) Cazalla D. … Caceres J.F. (Mol. Cell. Biol. 2005) 2 3 4 65
  3. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose J.E. … Uhl G.R. (Mol. Med. 2010) 3 46 65
  4. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PMID: 20628086) Bailey S.D. … Anand S. (Diabetes Care 2010) 3 46 65
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 65

Products for RSRC1 Gene

Sources for RSRC1 Gene

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