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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
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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
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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

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