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

    Gene ID: 57035, updated on 27-Nov-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, Nov 2024]
    Expression
    Ubiquitous expression in spleen (RPKM 20.3), prostate (RPKM 18.6) and 25 other tissues See more
    Orthologs
    mouse all
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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: 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. 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

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

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