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    SNRNP27 small nuclear ribonucleoprotein U4/U6.U5 subunit 27 [ Homo sapiens (human) ]

    Gene ID: 11017, updated on 27-Nov-2024

    Summary

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    Official Symbol
    SNRNP27provided by HGNC
    Official Full Name
    small nuclear ribonucleoprotein U4/U6.U5 subunit 27provided by HGNC
    Primary source
    HGNC:HGNC:30240
    See related
    Ensembl:ENSG00000124380 MIM:619629; AllianceGenome:HGNC:30240
    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
    27K; RY1
    Summary
    This gene encodes a serine/arginine-rich (SR) protein. SR proteins play important roles in pre-mRNA splicing by facilitating the recognition and selection of splice sites. The encoded protein associates with the 25S U4/U6.U5 tri-snRNP, a major component of the U2-type spiceosome. The expression of this gene may be altered in cells infected with the human T-cell lymphotropic virus type 1 (HTLV-1) retrovirus. A pseudogene of this gene is located on the long arm of chromosome 5. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Feb 2011]
    Expression
    Ubiquitous expression in brain (RPKM 19.6), adrenal (RPKM 18.4) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See SNRNP27 in Genome Data Viewer
    Location:
    2p13.3
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (69893956..69905236)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (69906240..69916976)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (70121088..70132368)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene annexin A4 Neighboring gene uncharacterized LOC124906021 Neighboring gene H3K27ac hESC enhancers GRCh37_chr2:70055828-70056749 and GRCh37_chr2:70056750-70057670 Neighboring gene germ cell-less 1, spermatogenesis associated Neighboring gene ribosomal protein L23a pseudogene 92 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:70120713-70121648 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:70121649-70122583 Neighboring gene small nucleolar RNA U13 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15980 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:70141467-70142072 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11602 Neighboring gene Sharpr-MPRA regulatory region 10436 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:70164441-70164976 Neighboring gene MAX dimerization protein 1 Neighboring gene aspartic peptidase retroviral like 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. Altered expression of a novel cellular gene as a consequence of integration of human T cell lymphotropic virus type 1. Nakamura Y, et al. J Gen Virol, 1994 Oct. PMID 7931148
    2. The [U4/U6.U5] tri-snRNP-specific 27K protein is a novel SR protein that can be phosphorylated by the snRNP-associated protein kinase. Fetzer S, et al. RNA, 1997 Apr. PMID 9085842, Free PMC Article
    3. The mammalian analogue of the yeast PRP8 splicing protein is present in the U4/5/6 small nuclear ribonucleoprotein particle and the spliceosome. Pinto AL, et al. Proc Natl Acad Sci U S A, 1989 Nov. PMID 2479028, Free PMC Article
    4. The network of protein-protein interactions within the human U4/U6.U5 tri-snRNP. Liu S, et al. RNA, 2006 Jul. PMID 16723661, Free PMC Article
    5. Mechanism of 5' splice site transfer for human spliceosome activation. Charenton C, et al. Science, 2019 Apr 26. PMID 30975767, Free PMC Article

    See all (43) citations in PubMed

    GeneRIFs: Gene References Into Functions

    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

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables nucleic acid binding NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in mRNA splicing, via spliceosome NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    Component Evidence Code Pubs
    part_of U4/U6 x U5 tri-snRNP complex IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
    		  
    located_in nucleus NAS
    Non-traceable Author Statement
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    U4/U6.U5 small nuclear ribonucleoprotein 27 kDa protein
    Names
    U4/U6.U5 tri-snRNP-associated 27 kDa protein
    U4/U6.U5 tri-snRNP-associated protein 3
    U4/U6.U5-27K
    putative nucleic acid binding protein RY-1
    small nuclear ribonucleoprotein 27kDa (U4/U6.U5)
    small nuclear ribonucleoprotein, U4/U6.U5 27kDa subunit

    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_006857.3 → NP_006848.1  U4/U6.U5 small nuclear ribonucleoprotein 27 kDa protein

      See identical proteins and their annotated locations for NP_006848.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes a functional protein.
      Source sequence(s)
      AC019206, AW452063, BC017890, X76302
      Consensus CDS
      CCDS33219.1
      UniProtKB/Swiss-Prot
      Q15410, Q8WVK2
      UniProtKB/TrEMBL
      A8K513, D6W5G1
      Related
      ENSP00000244227.3, ENST00000244227.8
      Conserved Domains (1) summary
      pfam08648
      Location:98 → 154
      DUF1777; Protein of unknown function (DUF1777)

    RNA

    1. NR_037862.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) is represented as non-coding because it uses an alternate splice site in the 3' UTR, compared to variant 1, which renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AW452063, BU171817, X76302
      Related
      ENST00000409116.5

    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_000002.12 Reference GRCh38.p14 Primary Assembly

      Range
      69893956..69905236
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060926.1 Alternate T2T-CHM13v2.0

      Range
      69906240..69916976
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8WVK2.1 GenPept UniProtKB/Swiss-Prot:Q8WVK2

    Gene LinkOut

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

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