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, ... See more...

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
  • Serine/Arginine-Related Protein 53 3 4
  • Arginine/Serine-Rich Coiled-Coil 1 2 3
  • SRrp53 3 4
  • BM-011 3
  • SFRS21 3
  • SRRP53 4
  • MRT70 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 Intellectual Developmental Disorder, Autosomal Recessive 70 and Autosomal Recessive Non-Syndromic Intellectual Disability.

UniProtKB/Swiss-Prot Summary for RSRC1 Gene

  • Has a role in alternative splicing and transcription regulation (PubMed:29522154). 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.

Additional gene information for RSRC1 Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for RSRC1 Gene

Genomics for RSRC1 Gene

GeneHancer (GH) Regulatory Elements for RSRC1 Gene

Promoters and enhancers for RSRC1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH03J158101 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas 510.6 +1.1 1091 10.9 FOXK2 ZBTB40 ZNF217 EP300 CTCF ZSCAN5C SIN3A TCF12 NRF1 USF1 SHOX2 RSRC1 CCNL1 LXN MLF1 ENSG00000240207 ENSG00000272247 GFM1 RF00994-698
GH03J158470 Enhancer 0.9 Ensembl ENCODE 10.2 +365.8 365846 1.8 TCF12 JUND FOS TCF7 FOXA1 FOXA2 FOSL2 ZBTB33 FOXP1 MAFK MLF1 RSRC1 ENSG00000240207 RF00994-699 L13713-164
GH03J158185 Enhancer 0.9 VISTA UCNEbase Ensembl 8.7 +80.3 80332 1.3 RCOR1 RSRC1 MLF1 lnc-SHOX2-3 lnc-SHOX2-7 RPL15P6
GH03J158419 Enhancer 1 Ensembl ENCODE 8.5 +315.0 315046 2.2 ZBTB40 EP300 RELA TRIM22 BCL11A FOS SRF ARNT MEF2B NBN RSRC1 MLF1 ENSG00000271778 SHOX2 L13713-164 RF00994-699
GH03J158352 Enhancer 0.9 FANTOM5 Ensembl dbSUPER 9.2 +246.5 246537 2.8 FOXA2 SPI1 GABPA POLR2A MYC MAX RUNX3 MLF1 RSRC1 ENSG00000240207 MFSD1 piR-38372-004 L13713-164
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around RSRC1 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for RSRC1

Top Transcription factor binding sites by QIAGEN in the RSRC1 gene promoter:
  • aMEF-2
  • AREB6
  • COMP1
  • CP2
  • CUTL1
  • MEF-2A
  • Nkx2-5
  • POU3F2
  • PPAR-alpha

Genomic Locations for RSRC1 Gene

Genomic Locations for RSRC1 Gene
chr3:158,105,855-158,545,730
(GRCh38/hg38)
Size:
439,876 bases
Orientation:
Plus strand
chr3:157,823,644-158,263,519
(GRCh37/hg19)
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; 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

Gene Families for RSRC1 Gene

Human Protein Atlas (HPA):
  • Plasma proteins
  • Predicted intracellular proteins

Protein Domains for RSRC1 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for RSRC1 Gene

GenScript: Design optimal peptide antigens:
  • Arginine/serine-rich coiled-coil protein 1 (RSRC1_HUMAN)
genes like me logo Genes that share domains with RSRC1: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for RSRC1 Gene

Function for RSRC1 Gene

Molecular function for RSRC1 Gene

UniProtKB/Swiss-Prot Function:
Has a role in alternative splicing and transcription regulation (PubMed:29522154). 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.

Phenotypes From GWAS Catalog for RSRC1 Gene

Gene Ontology (GO) - Molecular Function for RSRC1 Gene

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

Human Phenotype Ontology for RSRC1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

miRNA for RSRC1 Gene

miRTarBase miRNAs that target RSRC1

Clone Products

No data available for Enzyme Numbers (IUBMB) , 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
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 RSRC1 gene
Compartment Confidence
nucleus 5
cytosol 2
cytoskeleton 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nuclear speckles (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for RSRC1 Gene

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

Pathways & Interactions for RSRC1 Gene

PathCards logo

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 IBA 21873635
GO:0000398 mRNA splicing, via spliceosome IDA 15798186
GO:0006397 mRNA processing IEA --
GO:0006468 protein phosphorylation IEA --
GO:0006913 nucleocytoplasmic transport ISS,IEA --
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

mRNA/cDNA for RSRC1 Gene

3 REFSEQ mRNAs :
7 NCBI additional mRNA sequence :
15 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 RSRC1 Gene

No ASD Table

Relevant External Links for RSRC1 Gene

GeneLoc Exon Structure for
RSRC1

Expression for RSRC1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE 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, MaxQB, and MOPED for RSRC1 Gene



Protein tissue co-expression partners for RSRC1 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for RSRC1

SOURCE GeneReport for Unigene cluster for RSRC1 Gene:

Hs.591283

mRNA Expression by UniProt/SwissProt for RSRC1 Gene:

Q96IZ7-RSRC1_HUMAN
Tissue specificity: Widely expressed. Expressed in brain, spinal cord, cerebellum.

Evidence on tissue expression from TISSUES for RSRC1 Gene

  • Bone marrow(4.2)
  • Nervous system(2.5)
genes like me logo Genes that share expression patterns with RSRC1: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer 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
chimpanzee
(Pan troglodytes)
Mammalia RSRC1 30
  • 99.8 (n)
cow
(Bos Taurus)
Mammalia RSRC1 31 30
  • 93.11 (n)
OneToOne
dog
(Canis familiaris)
Mammalia RSRC1 31 30
  • 91.92 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Rsrc1 17 31 30
  • 88.83 (n)
rat
(Rattus norvegicus)
Mammalia Rsrc1 30
  • 87.52 (n)
oppossum
(Monodelphis domestica)
Mammalia RSRC1 31
  • 74 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia RSRC1 31
  • 58 (a)
OneToOne
chicken
(Gallus gallus)
Aves RSRC1 31
  • 80 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia RSRC1 31
  • 77 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.23860 30
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.2949 30
zebrafish
(Danio rerio)
Actinopterygii rsrc1 31
  • 56 (a)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.1259 30
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)
Aminode:
Evolutionary constrained regions (ECRs) for RSRC1: view image

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, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for RSRC1 Gene

SNP ID Clinical significance and condition Chr 03 pos Variation AA Info Type
rs1183090232 Pathogenic: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 70 158,123,939(+) C/T NONSENSE
rs868818936 Pathogenic: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 70 158,123,876(+) C/T NONSENSE

Additional dbSNP identifiers (rs#s) for RSRC1 Gene

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)

Additional Variant Information for RSRC1 Gene

Human Gene Mutation Database (HGMD)
RSRC1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
RSRC1

SNP Genotyping and Copy Number Assay Products

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

Disorders for RSRC1 Gene

MalaCards: The human disease database

(3) MalaCards diseases for RSRC1 Gene - From: OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search RSRC1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

RSRC1_HUMAN
  • Intellectual developmental disorder, autosomal recessive 70 (MRT70) [MIM:618402]: A form of mental retardation, a disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. Intellectual deficiency is the only primary symptom of non-syndromic mental retardation, while syndromic mental retardation presents with associated physical, neurological and/or psychiatric manifestations. MRT70 is characterized primarily by impaired intellectual development. Mild facial dysmorphism, febrile seizures, and behavioral abnormalities have been reported in some patients. {ECO:0000269 PubMed:28640246, ECO:0000269 PubMed:29522154}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for RSRC1

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

No data available for 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 SG … Macciardi F (Molecular psychiatry 2009) 2 3 41 54
  2. A novel SR-related protein is required for the second step of Pre-mRNA splicing. (PMID: 15798186) Cazalla D … Cáceres JF (Molecular and cellular biology 2005) 2 3 4 54
  3. RSRC1 mutation affects intellect and behaviour through aberrant splicing and transcription, downregulating IGFBP3. (PMID: 29522154) Perez Y … Birk OS (Brain : a journal of neurology 2018) 3 4 54
  4. 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
  5. 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 SD … DREAM investigators (Diabetes care 2010) 3 41 54

Products for RSRC1 Gene

Sources for RSRC1 Gene