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

Summary

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

Location:: 3q25.32

Exon count:: 13

Annotation release	Status	Assembly	Chr	Location
110	current	GRCh38.p14 (GCF_000001405.40)	3	NC_000003.12 (158110089..158545730)
110	current	T2T-CHM13v2.0 (GCF_009914755.1)	3	NC_060927.1 (160884849..161320841)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	3	NC_000003.11 (157827878..158263519)

Chromosome 3 - NC_000003.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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.
RSRC1 rs6441201A allele was associated with increased neuroblastoma risk in Chinese children.
Title: RSRC1 and CPZ gene polymorphisms with neuroblastoma susceptibility in Chinese children.
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.
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.
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.
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.
Observational study of gene-disease association. (HuGE Navigator)
Title: Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.

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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 EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH98506 (e-PCR)
- UniSTS:86315

SHGC-111808 (e-PCR)
- UniSTS:168757

RH65530 (e-PCR)
- UniSTS:47685

SHGC-110282 (e-PCR)
- UniSTS:167760

SHGC-111925 (e-PCR)
- UniSTS:183633

REN16326 (e-PCR)
- UniSTS:341126

RH120686 (e-PCR)
- UniSTS:132767

D3S3419 (e-PCR)
- UniSTS:28891

SHGC-13701 (e-PCR)
- UniSTS:25318

RH121136 (e-PCR)
- UniSTS:134131

Homology

Homologs of the RSRC1 gene: The RSRC1 gene is conserved in chimpanzee, Rhesus monkey, dog, cow, mouse, and rat.
Orthologs from Annotation Pipeline: 454 organisms have orthologs with human gene RSRC1
Orthologs

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	PubMed
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 protein phosphorylation	IEA Inferred from Electronic Annotation 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	PubMed
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	PubMed
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)

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/Swiss-Prot

Q96IZ7

Related

ENSP00000308671.6, ENST00000312179.10
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

Q96IZ7, Q9NZE5

Related

ENSP00000481697.1, ENST00000611884.5
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

Q96IZ7, Q9NZE5

Related

ENSP00000295930.3, ENST00000295930.7