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    RSRC1 arginine and serine rich coiled-coil 1 [ Homo sapiens (human) ]

    Gene ID: 51319, updated on 3-Apr-2024

    Summary

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    Official Symbol
    RSRC1provided by HGNC
    Official Full Name
    arginine and serine rich coiled-coil 1provided by HGNC
    Primary source
    HGNC:HGNC:24152
    See related
    Ensembl:ENSG00000174891 MIM:613352; AllianceGenome:HGNC:24152
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    MRT70; BM-011; SFRS21; SRrp53
    Summary
    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]
    Expression
    Ubiquitous expression in thyroid (RPKM 9.3), brain (RPKM 9.2) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    3q25.32
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (158110089..158545730)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (160884821..161320841)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (157827878..158263519)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene RN7SK pseudogene 46 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:157737752-157738378 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr3:157751099-157752298 Neighboring gene hs1251 and hs1262 enhancers downstream of SHOX2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20743 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:157820715-157821322 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14847 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:157824397-157824900 Neighboring gene H3K27ac hESC enhancers GRCh37_chr3:157827539-157828040 and GRCh37_chr3:157828041-157828540 Neighboring gene SHOX homeobox 2 Neighboring gene VISTA enhancer hs636 Neighboring gene VISTA enhancer hs741 Neighboring gene MPRA-validated peak4879 silencer Neighboring gene ribosomal protein L15 pseudogene 6 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:158047255-158047784 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20746 Neighboring gene VISTA enhancer hs1413 Neighboring gene LILRA2 pseudogene 1 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr3:158128478-158129071 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20747 Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:158221375-158221874 Neighboring gene ReSE screen-validated silencer GRCh37_chr3:158260149-158260366 Neighboring gene ribosomal protein S12 pseudogene 7 Neighboring gene long non-coding RNA uc.134 Neighboring gene MLF1 divergent transcript Neighboring gene myeloid leukemia factor 1 Neighboring gene methylthioadenosine phosphorylase pseudogene 1

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. RSRC1 loss-of-function variants cause mild to moderate autosomal recessive intellectual disability. Scala M, et al. Brain, 2020 Apr 1. PMID 32227164, Free PMC Article
    2. RSRC1 mutation affects intellect and behaviour through aberrant splicing and transcription, downregulating IGFBP3. Perez Y, et al. Brain, 2018 Apr 1. PMID 29522154
    3. RSRC1 suppresses gastric cancer cell proliferation and migration by regulating PTEN expression. Yu S, et al. Mol Med Rep, 2019 Aug. PMID 31257492, Free PMC Article
    4. RSRC1 and CPZ gene polymorphisms with neuroblastoma susceptibility in Chinese children. Tang J, et al. Gene, 2018 Jul 1. PMID 29653227
    5. RSRC1 SUMOylation enhances SUMOylation and inhibits transcriptional activity of estrogen receptor β. Chen L, et al. FEBS Lett, 2015 Jun 4. PMID 25937118

    See all (52) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Our findings support the pathogenic role of biallelic loss-of-function RSRC1 variants in autosomal recessive intellectual disability, in addition to contributing to the phenotypic delineation of this emerging condition
      Title: RSRC1 loss-of-function variants cause mild to moderate autosomal recessive intellectual disability.
    2. RSRC1 knockdown promoted the proliferation and migration of gastric cancer cells. In addition, the knockdown of RSRC1 decreased the expression of phosphatase and tensin homolog deleted on chromosome 10 (PTEN), a potent tumor suppressor gene controlling cellular growth and viability.
      Title: RSRC1 suppresses gastric cancer cell proliferation and migration by regulating PTEN expression.
    3. This study demonstrated that RSRC1 mutation affects intellect and behaviour through aberrant splicing and transcription, downregulating IGFBP3.
      Title: RSRC1 mutation affects intellect and behaviour through aberrant splicing and transcription, downregulating IGFBP3.
    4. RSRC1 rs6441201A allele was associated with increased neuroblastoma risk in Chinese children.
      Title: RSRC1 and CPZ gene polymorphisms with neuroblastoma susceptibility in Chinese children.
    5. Data indicate that arginine/serine-rich coiled-coil 1 (RSRC1) represses estrogen receptor beta (ERbeta) transcriptional activity via ERbeta SUMOylation.
      Title: RSRC1 SUMOylation enhances SUMOylation and inhibits transcriptional activity of estrogen receptor β.
    6. Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
      Title: Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
    7. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    8. This study use Functional MRI and Genome Wide Association Analysis indentic novel gene(RSRC1) associated with schizophrenia.
      Title: Gene discovery through imaging genetics: identification of two novel genes associated with schizophrenia.
    9. Observational study of gene-disease association. (HuGE Navigator)
      Title: Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Intellectual developmental disorder, autosomal recessive 70
    MedGen: C5193077 OMIM: 618402 GeneReviews: Not available
    		Compare labs

    EBI GWAS Catalog

    Description
    Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC12197

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    acts_upstream_of_or_within RNA splicing IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in alternative mRNA splicing, via spliceosome IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in mRNA splicing, via spliceosome IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in nucleocytoplasmic transport ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in response to antibiotic IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytoplasm ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in nuclear speck ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in nucleus ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  

    General protein information

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    Preferred Names
    serine/Arginine-related protein 53
    Names
    arginine/serine-rich coiled-coil 1
    arginine/serine-rich coiled-coil protein 1
    splicing factor, arginine/serine-rich 21

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001271834.2 → NP_001258763.1  serine/Arginine-related protein 53 isoform 2

      See identical proteins and their annotated locations for NP_001258763.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) uses an alternate splice site in the 5' UTR and lacks an internal exon in the coding region but maintains the reading frame, compared to variant 1. The encoded isoform (2) is shorter, compared to isoform 1.
      Source sequence(s)
      AC106707, BC010357, BG205691, DA273191
      Consensus CDS
      CCDS63822.1
      UniProtKB/TrEMBL
      A0A804HJC0
      Related
      ENSP00000308671.6, ENST00000312179.10

    2. NM_001271838.2 → NP_001258767.1  serine/Arginine-related protein 53 isoform 1

      See identical proteins and their annotated locations for NP_001258767.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (1). Both variants 1 and 2 encode the same protein.
      Source sequence(s)
      AC106707, AF208853, BC006982, BG205691, DA273191
      Consensus CDS
      CCDS3181.1
      UniProtKB/Swiss-Prot
      A8K2R9, Q96IZ7, Q96QK2, Q9NZE5
      UniProtKB/TrEMBL
      A0A804HJI2
      Related
      ENSP00000481697.1, ENST00000611884.5

    3. NM_016625.4 → NP_057709.2  serine/Arginine-related protein 53 isoform 1

      See identical proteins and their annotated locations for NP_057709.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Both variants 1 and 2 encode the same protein.
      Source sequence(s)
      AC106707, BC006982, BG205691, DA273191
      Consensus CDS
      CCDS3181.1
      UniProtKB/Swiss-Prot
      A8K2R9, Q96IZ7, Q96QK2, Q9NZE5
      UniProtKB/TrEMBL
      A0A804HJI2
      Related
      ENSP00000295930.3, ENST00000295930.7

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000003.12 Reference GRCh38.p14 Primary Assembly

      Range
      158110089..158545730
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047448273.1 → XP_047304229.1  serine/Arginine-related protein 53 isoform X1

      Related
      ENSP00000417302.1, ENST00000471994.5

    2. XM_047448275.1 → XP_047304231.1  serine/Arginine-related protein 53 isoform X3

      UniProtKB/Swiss-Prot
      A8K2R9, Q96IZ7, Q96QK2, Q9NZE5
      Related
      ENSP00000507909.1, ENST00000683137.1

    3. XM_047448274.1 → XP_047304230.1  serine/Arginine-related protein 53 isoform X2

      Related
      ENSP00000417690.1, ENST00000494002.5

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060927.1 Alternate T2T-CHM13v2.0

      Range
      160884821..161320841
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054346771.1 → XP_054202746.1  serine/Arginine-related protein 53 isoform X1

    2. XM_054346773.1 → XP_054202748.1  serine/Arginine-related protein 53 isoform X3

      UniProtKB/Swiss-Prot
      A8K2R9, Q96IZ7, Q96QK2, Q9NZE5

    3. XM_054346772.1 → XP_054202747.1  serine/Arginine-related protein 53 isoform X2

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q96IZ7.1 GenPept UniProtKB/Swiss-Prot:Q96IZ7

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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