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

Gene ID: 11017, updated on 1-Jun-2020

Summary

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
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

Genomic context

See SNRNP27 in Genome Data Viewer
Location:
2p13.3
Exon count:
7
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 2 NC_000002.12 (69893956..69905236)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (70121075..70132368)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene annexin A4 Neighboring gene MANTIS Neighboring gene germ cell-less 1, spermatogenesis associated Neighboring gene ribosomal protein L23a pseudogene 92 Neighboring gene MAX dimerization protein 1 Neighboring gene PCBP1 antisense RNA 1 Neighboring gene aspartic peptidase retroviral like 1

Genomic regions, transcripts, and products

Expression

  • 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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
nucleic acid binding NAS
Non-traceable Author Statement
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
biological_process ND
No biological Data available
more info
 
mRNA splicing, via spliceosome TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
cellular_component ND
No biological Data available
more info
 
nucleoplasm TAS
Traceable Author Statement
more info
 

General protein information

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)

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_006857.3NP_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
    Q8WVK2
    UniProtKB/TrEMBL
    A8K513
    Related
    ENSP00000244227.3, ENST00000244227.8
    Conserved Domains (1) summary
    pfam08648
    Location:30151
    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: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p13 Primary Assembly

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