Human Gene RSRC1 (uc003fbt.4)
  Description: Homo sapiens arginine/serine-rich coiled-coil 1 (RSRC1), transcript variant 2, mRNA.
RefSeq Summary (NM_016625): 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].
Transcript (Including UTRs)
   Position: hg19 chr3:157,827,841-158,262,624 Size: 434,784 Total Exon Count: 10 Strand: +
Coding Region
   Position: hg19 chr3:157,839,894-158,262,064 Size: 422,171 Coding Exon Count: 9 

Page IndexSequence and LinksUniProtKB CommentsPrimersGenetic AssociationsMalaCards
CTDGene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein Structure
Other SpeciesGO AnnotationsmRNA DescriptionsOther NamesModel InformationMethods
Data last updated at UCSC: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr3:157,827,841-158,262,624)mRNA (may differ from genome)Protein (334 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
GeneNetworkH-INVHGNCHPRDLynxMalacards
MGIneXtProtOMIMPubMedUniProtKBBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: RSRC1_HUMAN
DESCRIPTION: RecName: Full=Serine/Arginine-related protein 53; Short=SRrp53; AltName: Full=Arginine/serine-rich coiled-coil protein 1;
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.
SUBUNIT: Interacts (via Arg/Ser-rich domain) with LUC7L3, RBM39 and RSF1.
SUBCELLULAR LOCATION: Nucleus (By similarity). Nucleus speckle (By similarity). Cytoplasm (By similarity). Note=Shuttles between the nucleus and cytoplasm (By similarity).
PTM: Phosphorylated (By similarity).
SEQUENCE CAUTION: Sequence=AAF64267.1; Type=Frameshift; Positions=159, 166, 174, 178;

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): RSRC1
CDC HuGE Published Literature: RSRC1
Positive Disease Associations: Neuroblastoma
Related Studies:
  1. Neuroblastoma
    , , . [PubMed 0]
  2. Neuroblastoma
    , , . [PubMed 0]
  3. Neuroblastoma
    , , . [PubMed 0]
           more ... click here to view the complete list

-  MalaCards Disease Associations
  MalaCards Gene Search: RSRC1
Diseases sorted by gene-association score: schizophrenia (2)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 7.54 RPKM in Brain - Cerebellar Hemisphere
Total median expression: 181.26 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -59.70162-0.369 Picture PostScript Text
3' UTR -98.10560-0.175 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  ModBase Predicted Comparative 3D Structure on Q96IZ7
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
 RGD    
 Protein Sequence    
 Alignment    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005515 protein binding

Biological Process:
GO:0000380 alternative mRNA splicing, via spliceosome
GO:0000398 mRNA splicing, via spliceosome
GO:0006397 mRNA processing
GO:0006468 protein phosphorylation
GO:0006913 nucleocytoplasmic transport
GO:0008380 RNA splicing
GO:0046677 response to antibiotic

Cellular Component:
GO:0005634 nucleus
GO:0005737 cytoplasm
GO:0016607 nuclear speck


-  Descriptions from all associated GenBank mRNAs
  AK290334 - Homo sapiens cDNA FLJ77045 complete cds, highly similar to Homo sapiens arginine/serine-rich coiled-coil 1 (RSRC1), mRNA.
BC006982 - Homo sapiens arginine/serine-rich coiled-coil 1, mRNA (cDNA clone MGC:12197 IMAGE:3997840), complete cds.
AF208853 - Homo sapiens BM-011 mRNA, complete cds.
BC010357 - Homo sapiens arginine/serine-rich coiled-coil 1, mRNA (cDNA clone MGC:13367 IMAGE:4249317), complete cds.
AK300388 - Homo sapiens cDNA FLJ58941 complete cds, moderately similar to Arginine/serine-rich coiled coil protein 1.
KJ906167 - Synthetic construct Homo sapiens clone ccsbBroadEn_15837 RSRC1 gene, encodes complete protein.
HQ448170 - Synthetic construct Homo sapiens clone IMAGE:100071561; CCSB005679_01 arginine/serine-rich coiled-coil 1 (RSRC1) gene, encodes complete protein.
KJ893889 - Synthetic construct Homo sapiens clone ccsbBroadEn_03283 RSRC1 gene, encodes complete protein.
JD057827 - Sequence 38851 from Patent EP1572962.
JD038453 - Sequence 19477 from Patent EP1572962.

-  Other Names for This Gene
  Alternate Gene Symbols: A8K2R9, BM-011, NM_016625, NP_057709, Q96IZ7, Q96QK2, Q9NZE5, RSRC1_HUMAN, SRRP53, uc003fbt.3
UCSC ID: uc003fbt.4
RefSeq Accession: NM_016625
Protein: Q96IZ7 (aka RSRC1_HUMAN)
CCDS: CCDS3181.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_016625.3
exon count: 10CDS single in 3' UTR: no RNA size: 1754
ORF size: 1005CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 2177.00frame shift in genome: no % Coverage: 98.46
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.