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RSRP1 arginine and serine rich protein 1 [ Homo sapiens (human) ]

Gene ID: 57035, updated on 10-Dec-2024

Summary

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Official Symbol
RSRP1provided by HGNC
Official Full Name
arginine and serine rich protein 1provided by HGNC
Primary source
HGNC:HGNC:25234
See related
Ensembl:ENSG00000117616 MIM:620030; AllianceGenome:HGNC:25234
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
NPD014; C1orf63
Summary
Involved in spliceosomal complex assembly. Located in nucleus. [provided by Alliance of Genome Resources, Dec 2024]
Expression
Ubiquitous expression in spleen (RPKM 20.3), prostate (RPKM 18.6) and 25 other tissues See more
Orthologs
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Genomic context

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See RSRP1 in Genome Data Viewer
Location:
1p36.11
Exon count:
11
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (25242249..25338254, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (25078510..25174547, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (25568740..25664745, complement)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr1:25554020-25555219 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 452 Neighboring gene uncharacterized LOC124903881 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:25559103-25560016 Neighboring gene SYF2 pre-mRNA splicing factor Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:25565284-25566070 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:25566071-25566856 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:25572736-25573460 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:25573461-25574185 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:25580071-25580587 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr1:25580588-25581105 Neighboring gene upstream Rhesus box Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:25593225-25593742 Neighboring gene uncharacterized LOC105376882 Neighboring gene Rh blood group D antigen Neighboring gene succinate dehydrogenase complex subunit D pseudogene 6 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr1:25649146-25649874 Neighboring gene downstream Rhesus box Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:25661249-25661779 Neighboring gene Sharpr-MPRA regulatory region 4019 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 453 Neighboring gene uncharacterized LOC124904723 Neighboring gene MPRA-validated peak126 silencer Neighboring gene small nucleolar RNA U13 Neighboring gene transmembrane protein 50A

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: Tissue-specific circular RNA induction during human fetal development
  • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
  • BioProject: PRJNA270632
  • Publication: PMID 26076956
  • Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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Related articles in PubMed

  1. Spliceosome-regulated RSRP1-dependent NF-κB activation promotes the glioblastoma mesenchymal phenotype. Li Y, et al. Neuro Oncol, 2021 Oct 1. PMID 34042961, Free PMC Article
  2. Elevated C1orf63 expression is correlated with CDK10 and predicts better outcome for advanced breast cancers: a retrospective study. Hong CQ, et al. BMC Cancer, 2015 Jul 25. PMID 26209438, Free PMC Article
  3. Complement receptor 1 gene variants are associated with erythrocyte sedimentation rate. Kullo IJ, et al. Am J Hum Genet, 2011 Jul 15. PMID 21700265, Free PMC Article
  4. The SARS-coronavirus-host interactome: identification of cyclophilins as target for pan-coronavirus inhibitors. Pfefferle S, et al. PLoS Pathog, 2011 Oct. PMID 22046132, Free PMC Article
  5. A Y2H-seq approach defines the human protein methyltransferase interactome. Weimann M, et al. Nat Methods, 2013 Apr. PMID 23455924

See all (23) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Results show that C1orf63 expression was elevated in tumor tissues and correlated with better prognosis for breast cancers with advanced stage but the underlying mechanism is unknown.
    Title: Elevated C1orf63 expression is correlated with CDK10 and predicts better outcome for advanced breast cancers: a retrospective study.
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

EBI GWAS Catalog

Description
Complement receptor 1 gene variants are associated with erythrocyte sedimentation rate.
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)

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • MGC43558

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in spliceosomal complex assembly IDA
Inferred from Direct Assay
more info
 PubMed 
Component Evidence Code Pubs
located_in nucleus IDA
Inferred from Direct Assay
more info
 PubMed 

General protein information

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Preferred Names
arginine/serine-rich protein 1
Names
UPF0471 protein C1orf63

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_001321772.2 → NP_001308701.1  arginine/serine-rich protein 1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (14) initiates transcription from an upstream promoter compared to variant 2. Variants 1 and 14 encode the same protein.
    Source sequence(s)
    AL031432, AL928711
    Consensus CDS
    CCDS260.1
    UniProtKB/Swiss-Prot
    A8K917, Q49AA4, Q5TH71, Q9BUV0, Q9GZP6
    Conserved Domains (1) summary
    pfam17069
    Location:1 → 290
    RSRP; Arginine/Serine-Rich protein 1

  2. NM_020317.5 → NP_064713.3  arginine/serine-rich protein 1

    See identical proteins and their annotated locations for NP_064713.3

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) encodes the supported protein, which is also encoded by variant 14.
    Source sequence(s)
    AK226012, AK292532, BC001892, BM875537, DA471865
    Consensus CDS
    CCDS260.1
    UniProtKB/Swiss-Prot
    A8K917, Q49AA4, Q5TH71, Q9BUV0, Q9GZP6
    Related
    ENSP00000243189.7, ENST00000243189.12
    Conserved Domains (1) summary
    pfam17069
    Location:1 → 290
    RSRP; Arginine/Serine-Rich protein 1

RNA

  1. NR_135143.2 RNA Sequence

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) uses alternate splice sites in an internal exon, compared to variant 2. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 2, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AF247168, AK027318, AK292532, BM875537
    Related
    ENST00000498238.1

  2. NR_135144.2 RNA Sequence

    Status: VALIDATED

    Description
    Transcript Variant: This variant (4) uses an alternate splice site in an internal exon, compared to variant 2. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 2, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AK226012, AK292532, BC041843, BM875537
    Related
    ENST00000568254.5

  3. NR_135777.2 RNA Sequence

    Status: VALIDATED

    Description
    Transcript Variant: This variant (5) initiates at an alternate promoter compared to variant 2.
    Source sequence(s)
    AL031432

  4. NR_135778.2 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AL031432

  5. NR_135780.2 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AL031432

  6. NR_135781.2 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AL031432

  7. NR_135782.2 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AL031432

  8. NR_135783.2 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AL031432

  9. NR_135784.2 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AL031432

  10. NR_135785.2 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AL031432

  11. NR_135786.2 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AL031432

  12. NR_135787.2 RNA Sequence

    Status: VALIDATED

    Description
    Transcript Variant: This variant (15) initiates transcription from an upstream promoter compared to variant 2.
    Source sequence(s)
    AL031432, AL928711, BC041843
    Related
    ENST00000473314.6

  13. NR_135788.2 RNA Sequence

    Status: VALIDATED

    Description
    Transcript Variant: This variant (16) initiates transcription from an upstream promoter compared to variant 2.
    Source sequence(s)
    AL031432, AL928711

  14. NR_135789.2 RNA Sequence

    Status: VALIDATED

    Description
    Transcript Variant: This variant (17) initiates transcription from an upstream promoter compared to variant 2.
    Source sequence(s)
    AL031432, AL928711

  15. NR_135790.1 RNA Sequence

    Status: VALIDATED

    Description
    Transcript Variant: This variant (18) initiates transcription from an upstream promoter and lacks the coding region found in variant 2.
    Source sequence(s)
    AL928711

  16. NR_135791.1 RNA Sequence

    Status: VALIDATED

    Description
    Transcript Variant: This variant (19) initiates transcription from an upstream promoter and lacks the coding region found in variant 2.
    Source sequence(s)
    AL928711

  17. NR_135792.1 RNA Sequence

    Status: VALIDATED

    Description
    Transcript Variant: This variant (20) initiates transcription from an upstream promoter and lacks the coding region found in variant 2.
    Source sequence(s)
    AL928711

  18. NR_135793.1 RNA Sequence

    Status: VALIDATED

    Description
    Transcript Variant: This variant (21) initiates transcription from an upstream promoter and lacks the coding region found in variant 2.
    Source sequence(s)
    AL928711, DA760736

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

    Range
    25242249..25338254 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060925.1 Alternate T2T-CHM13v2.0

    Range
    25078510..25174547 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9BUV0.2 GenPept UniProtKB/Swiss-Prot:Q9BUV0

Gene LinkOut

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