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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

RSRC1 Gene

protein-coding   GIFtS: 46
GCID: GC03P157823

arginine/serine-rich coiled-coil 1

 Explore 1 disease affiliated with
RSRC1 via our new
 Human Malady Compendium 
Biological research products
for RSRC1
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
Arginine/Serine-Rich Coiled-Coil 11 2     BM-0111
SRrp531 2 3     MGC121971
SFRS211 2     Serine/Arginine-Related Protein 532
Arginine/Serine-Rich Coiled-Coil Protein 12 3     Splicing Factor, Arginine/Serine-Rich 212
SRRP533 5     

External Ids:    HGNC: 241521   Entrez Gene: 513192   Ensembl: ENSG000001748917   OMIM: 6133525   UniProtKB: Q96IZ73   

Export aliases for RSRC1 gene to outside databases

Previous GC identifers: GC03P159311 GC03P155224


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for RSRC1:
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)

UniProtKB/Swiss-Prot: RSRC1_HUMAN, Q96IZ7
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




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000003.11  NC_018914.1  NT_005612.16  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the RSRC1 gene promoter:
         Nkx2-5   CUTL1   POU3F2   PPAR-alpha   AREB6   MEF-2A   CP2   COMP1   aMEF-2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidRSRC1 promoter sequence
   Search SABiosciences Chromatin IP Primers for RSRC1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat RSRC1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 3q25.32   Ensembl cytogenetic band:  3q25.32   HGNC cytogenetic band: 3q25.32

RSRC1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
RSRC1 gene location

GeneLoc information about chromosome 3         GeneLoc Exon Structure

GeneLoc location for GC03P157823:  view genomic region     (about GC identifiers)

Start:
157,823,644 bp from pter      End:
158,263,519 bp from pter
Size:
439,876 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: RSRC1_HUMAN, Q96IZ7 (See protein sequence)
Recommended Name: Serine/Arginine-related protein 53  
Size: 334 amino acids; 38677 Da
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)
Sequence caution: Sequence=AAF64267.1; Type=Frameshift; Positions=159, 166, 174, 178;
Secondary accessions: A8K2R9 Q96QK2 Q9NZE5
Alternative splicing: 2 isoforms:  Q96IZ7-1   Q96IZ7-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for RSRC1: NX_Q96IZ7

Post-translational modifications:

  • Phosphorylated (By similarity)1
  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q96IZ7

  • RSRC1 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins (3 alternative transcripts): 
    NP_001258763.1  NP_001258767.1  NP_057709.2  

    ENSEMBL proteins: 
     ENSP00000420150   ENSP00000417690   ENSP00000295930   ENSP00000417302   ENSP00000419794  
     ENSP00000308671   ENSP00000417816   ENSP00000420018   ENSP00000419394   ENSP00000419054  
     ENSP00000420464  

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    Uscn Proteins for RSRC1

    Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus ISS--
    GO:0005737cytoplasm ISS--
    GO:0016607nuclear speck ISS--


    RSRC1 for ontologies           About GeneDecksing



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    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    ProtoNet protein and cluster: Q96IZ7


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Function Summary:

         UniProtKB/Swiss-Prot: RSRC1_HUMAN, Q96IZ7
    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

    miRNA
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    Gene Ontology (GO): 1 molecular function term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI15798186


    RSRC1 for ontologies           About GeneDecksing



    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
    About This Section



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for RSRC1

    STRING Interaction Network Preview (showing 5 interactants - click image to see more details)

    5/12 Interacting proteins for RSRC1 (Q96IZ72, 3 ENSP000002959304) via UniProtKB, MINT, STRING, and/or I2D (see all 12)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    LSM2Q9Y3332, 3, ENSP000003648134MINT-65198 I2D: score=5 STRING: ENSP00000364813
    ACTR3BQ9P1U12, 3, ENSP000002560014MINT-65197 I2D: score=2 STRING: ENSP00000256001
    GDF9O603832, 3MINT-65194 I2D: score=5 
    UTP14AQ9BVJ62, 3MINT-65196 I2D: score=5 
    YWHAGP619813, ENSP000003063304I2D: score=1 STRING: ENSP00000306330
    About this table

    Gene Ontology (GO): 5/6 biological process terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000380alternative mRNA splicing, via spliceosome IEA--
    GO:0000398mRNA splicing, via spliceosome IDA15798186
    GO:0006468protein phosphorylation IEA--
    GO:0006913nucleocytoplasmic transport ISS--
    GO:0008380RNA splicing IDA15798186


    RSRC1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for RSRC1
    Search CenterWatch for drugs/clinical trials and news about RSRC1 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
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    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for RSRC1 gene (3 alternative transcripts): 
    NM_001271834.1  NM_001271838.1  NM_016625.3  

    Unigene Cluster for RSRC1:

    Arginine/serine-rich coiled-coil 1
    Hs.591283  [show with all ESTs]
    Unigene Representative Sequence: NM_001271838
    14 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000480820 ENST00000494002 ENST00000295930(uc003fbt.3 uc003fbu.1)
    ENST00000471994 ENST00000464171 ENST00000312179(uc003fbv.3) ENST00000475278
    ENST00000480119 ENST00000468344 ENST00000471911(uc011bou.1) ENST00000476899
    ENST00000477788 ENST00000482822 ENST00000496268

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    Inhib. RNA
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    Additional cDNA sequence: 

    AF208853.1 AK290334.1 AK300388.1 BC006982.1 BC010357.1 

    11 DOTS entries:

    DT.306667  DT.120848465  DT.91789214  DT.99934270  DT.102840890  DT.120848468  DT.95168103  DT.120848454 
    DT.40245897  DT.91915183  DT.92410035 

    24/90 AceView cDNA sequences (see all 90):

    BX101668 BU193270 BC010357 AA620642 CA771035 BM799955 CB129497 BG184516 
    BC006982 NM_016625 AA620664 AA548531 BM754311 AW960143 CA448335 BP349541 
    AL601595 BG207268 BQ435722 BG200023 BU945436 AW084175 BG674990 BG212521 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    RSRC1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: TTAAAGAACA

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)

    About this image
    See RSRC1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for RSRC1

    SOURCE GeneReport for Unigene cluster: Hs.591283
        SABiosciences Custom PCR Arrays for RSRC1
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for RSRC1

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for RSRC1 gene from 6/22 species (see all 22)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    chicken
    (Gallus gallus)
    Aves RSRC11 arginine/serine-rich coiled-coil 1 78.32(n)
    84.8(a)
      425020  XM_422823.3  XP_422823.3 
    lizard
    (Anolis carolinensis)
    Reptilia RSRC16
    --
    26(a)
    1 ↔ 1
    3(14189196-14191774)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.238602 Xenopus laevis transcribed sequence with weak similarity more 78.63(n)    BX850107.1 
    zebrafish
    (Danio rerio)
    Actinopterygii rsrc11 arginine/serine-rich coiled-coil 1 60.59(n)
    58.31(a)
      405883  NM_212947.1  NP_998112.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG118086
    CG63406
    (see all 3)
    --
    7(a)
    2(a)
    (see all 3)
    1 ↔ 1
    possible ortholog
    (see all 3)
    2R(11103716-11104575)
    X(15376410-15380645)
    worm
    (Caenorhabditis elegans)
    Secernentea H27M09.56
    Y119C1B.16
    (see all 3)
    --
    9(a)
    9(a)
    (see all 3)
    possible ortholog
    possible ortholog
    (see all 3)
    I(6845179-6846953)
    I(4554151-4555204)


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for RSRC1 gene
    CLASRP2  SON2  C1orf632  

    RSRC1 for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for RSRC1
    PGOHUM00000236246


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/7028 NCBI SNPs in RSRC1 are shown (see all 7028    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 3 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs2005513011,2
    C--155659895(+) ATTTTC/TTTTTT 1 -- ds50010--------
    rs1140384751,2
    F,--157826068(+) AGAAAC/TGTTGT 1 -- us2k11Minor allele frequency- T:0.02WA 118
    rs1489867101,2
    --157826165(+) AATACA/GTTGTT 1 -- us2k10--------
    rs1454080691,2
    --157826175(+) TATCAA/GTACTT 1 -- us2k10--------
    rs1827715941,2
    --157826438(+) CAAATA/GACTCA 1 -- us2k10--------
    rs1870962691,2
    --157826590(+) TCAGGA/GAAGTC 1 -- us2k10--------
    rs76424891,2
    C,F,H,--157826629(+) CAATAG/AATTTT 1 -- us2k119Minor allele frequency- A:0.02NS NA WA CSA EA 1139
    rs1915091161,2
    --157826736(+) TTCCAC/GTGGCC 1 -- us2k10--------
    rs1476945671,2
    --157826754(+) AGTTAC/TTTTAA 1 -- us2k10--------
    rs1839456801,2
    --157826815(+) CCAATG/TATGTT 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for RSRC1 (157823644 - 158073644 bp, first 250kb of RSRC1)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 6 variations for RSRC1
         2 CNVs: 63627 98501
         4 Indels: 50975 46315 62117 60442
    Human Gene Mutation Database (HGMD): RSRC1

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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    RSRC1 for disorders           About GeneDecksing

    OMIM gene information: 613352    OMIM disorders: --

    1 disease for RSRC1:    About MalaCards
    schizophrenia

    Human Genome Epidemiology (HuGE) Navigator: RSRC1 (6 documents)

    Export disorders for RSRC1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for RSRC1 gene, integrated from 9 sources (see all 15):
    (articles sorted by number of sources associating them with RSRC1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. A novel SR-related protein is required for the second step of Pre-mRNA splicing. (PubMed id 15798186)1, 2, 3 Cazalla D....Caceres J.F. (2005)
    2. Gene discovery through imaging genetics: identification of two novel genes associated with schizophrenia. (PubMed id 19065146)1, 3 Potkin S.G....Macciardi F. (2009)
    3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    4. System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation. (PubMed id 21406692)2 Rigbolt K.T....Blagoev B. (2011)
    5. The Brd4 extraterminal domain confers transcription a ctivation independent of pTEFb by recruiting multiple proteins, including NSD3. (PubMed id 21555454)1 Rahman S....Howley P.M. (2011)
    6. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1 Rose J.E....Uhl G.R. (2010)
    7. Systematic analysis of human protein complexes identi fies chromosome segregation proteins. (PubMed id 20360068)1 Hutchins J.R....Peters J.M. (2010)
    8. Identifying gene regulatory networks in schizophrenia . (PubMed id 20600988)1 Potkin S.G....Xie X. (2010)
    9. Variation at the NFATC2 locus increases the risk of t hiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipr il and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1 Bailey S.D....Anand S. (2010)
    10. Gene-centric association signals for lipids and apoli poproteins identified via the HumanCVD BeadChip. (PubMed id 19913121)1 Talmud P.J.... . (2009)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 51319 HGNC: 24152 AceView: MGC12197 Ensembl:ENSG00000174891 euGenes: HUgn51319
    ECgene: RSRC1 H-InvDB: RSRC1

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for RSRC1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for RSRC1 gene:
    Search GeneIP for patents involving RSRC1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences),
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    GeneCards Homepage - Last full update: 18 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 26 Apr 2013

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