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

Gene ID: 11017, updated on 5-Mar-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
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Genomic context

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Location:
2p13.3
Exon count:
7
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (69893956..69905236)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (69906240..69916976)
105.20220307 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. 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
  2. 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
  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 (41) 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)

Genotypes

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 biological_process ND
No biological Data available
more info
  
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 
is_active_in cellular_component ND
No biological Data available
more info
  
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_2023_10

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

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