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RPL27 ribosomal protein L27 [ Homo sapiens (human) ]

Gene ID: 6155, updated on 7-Apr-2024

Summary

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Official Symbol
RPL27provided by HGNC
Official Full Name
ribosomal protein L27provided by HGNC
Primary source
HGNC:HGNC:10328
See related
Ensembl:ENSG00000131469 MIM:607526; AllianceGenome:HGNC:10328
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
L27; eL27; DBA16
Summary
Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of four RNA species and approximately 80 structurally distinct proteins. This gene encodes a member of the L27e family of ribosomal proteins and a component of the 60S subunit. A splice site mutation in this gene has been identified in a Diamond-Blackfan anemia (DBA) patient. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Mar 2017]
Expression
Ubiquitous expression in bone marrow (RPKM 537.2), ovary (RPKM 510.1) and 25 other tissues See more
Orthologs
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Genomic context

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Location:
17q21.31
Exon count:
6
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (42998273..43002959)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (43855556..43860248)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (41150290..41154976)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene PTGES3L-AARSD1 readthrough Neighboring gene MPRA-validated peak2851 silencer Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:41124646-41125212 Neighboring gene prostaglandin E synthase 3 like Neighboring gene MPRA-validated peak2852 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12229 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8549 Neighboring gene RUN domain containing 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:41142673-41143174 Neighboring gene uncharacterized LOC124904006 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr17:41149993-41151192 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12233 Neighboring gene interferon induced protein 35 Neighboring gene vesicle amine transport 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. RPL27 contributes to colorectal cancer proliferation and stemness via PLK1 signaling. Park SY, et al. Int J Oncol, 2023 Aug. PMID 37387446, Free PMC Article
  2. Cloning and nucleotide sequence of a full length cDNA encoding ribosomal protein L27 from human fetal kidney. Gallagher RA, et al. Biochim Biophys Acta, 1994 Apr 6. PMID 8148381
  3. Generation of region- and species-specific expressed gene probes from somatic cell hybrids. Jones KW, et al. Nat Genet, 1992 Jul. PMID 1302024
  4. Comparison of the positional cloning methods used to isolate the BRCA1 gene. Harshman K, et al. Hum Mol Genet, 1995 Aug. PMID 7581362
  5. Loss of function mutations in RPL27 and RPS27 identified by whole-exome sequencing in Diamond-Blackfan anaemia. Wang R, et al. Br J Haematol, 2015 Mar. PMID 25424902

See all (189) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Effect of RPL27 knockdown on the proliferation and apoptosis of human liver cancer cells.
    Title: Effect of RPL27 knockdown on the proliferation and apoptosis of human liver cancer cells.
  2. RPL27 contributes to colorectal cancer proliferation and stemness via PLK1 signaling.
    Title: RPL27 contributes to colorectal cancer proliferation and stemness via PLK1 signaling.
  3. Loss of function mutations in RPL27 and RPS27 lead to Diamond-Blackfan anaemia.
    Title: Loss of function mutations in RPL27 and RPS27 identified by whole-exome sequencing in Diamond-Blackfan anaemia.
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

Associated conditions

Description Tests
Diamond-Blackfan anemia 16
MedGen: C4479424 OMIM: 617408 GeneReviews: Not available
Compare labs

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

HIV-1 interactions

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Protein interactions

Protein Gene Interaction Pubs
Rev rev HIV-1 Rev interacting protein, ribosomal protein L27 (RPL27), is identified by the in-vitro binding experiments involving cytosolic or nuclear extracts from HeLa cells PubMed
Tat tat Expression of HIV-1 Tat upregulates the abundance of ribosomal protein L27 (RPL27) in the nucleoli of Jurkat T-cells PubMed

Go to the HIV-1, Human Interaction Database

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 RNA binding HDA PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables structural constituent of ribosome IBA
Inferred from Biological aspect of Ancestor
more info
  
enables structural constituent of ribosome IDA
Inferred from Direct Assay
more info
 PubMed 
enables structural constituent of ribosome NAS
Non-traceable Author Statement
more info
 PubMed 
enables structural constituent of ribosome TAS
Traceable Author Statement
more info
 PubMed 
Process Evidence Code Pubs
involved_in cytoplasmic translation IC
Inferred by Curator
more info
 PubMed 
involved_in cytoplasmic translation NAS
Non-traceable Author Statement
more info
 PubMed 
involved_in rRNA processing IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in response to aldosterone IEA
Inferred from Electronic Annotation
more info
  
involved_in translation NAS
Non-traceable Author Statement
more info
 PubMed 
Component Evidence Code Pubs
located_in cytoplasm NAS
Non-traceable Author Statement
more info
 PubMed 
located_in cytoplasmic side of rough endoplasmic reticulum membrane ISS
Inferred from Sequence or Structural Similarity
more info
  
located_in cytosol TAS
Traceable Author Statement
more info
  
part_of cytosolic large ribosomal subunit HDA PubMed 
part_of cytosolic large ribosomal subunit IBA
Inferred from Biological aspect of Ancestor
more info
  
part_of cytosolic large ribosomal subunit IDA
Inferred from Direct Assay
more info
 PubMed 
part_of cytosolic large ribosomal subunit IPI
Inferred from Physical Interaction
more info
 PubMed 
located_in cytosolic ribosome IDA
Inferred from Direct Assay
more info
 PubMed 
located_in extracellular exosome HDA PubMed 
located_in focal adhesion HDA PubMed 
located_in membrane HDA PubMed 
located_in nucleolus IDA
Inferred from Direct Assay
more info
  
located_in nucleoplasm IDA
Inferred from Direct Assay
more info
  
located_in nucleus HDA PubMed 
part_of ribonucleoprotein complex IDA
Inferred from Direct Assay
more info
 PubMed 
located_in ribosome TAS
Traceable Author Statement
more info
 PubMed 
located_in synapse IEA
Inferred from Electronic Annotation
more info
  

General protein information

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Preferred Names
large ribosomal subunit protein eL27
Names
60S ribosomal protein L27
NP_000979.1
NP_001336850.1
NP_001336851.1

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.

Genomic

  1. NG_053099.1 RefSeqGene

    Range
    5147..9687
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_1156

mRNA and Protein(s)

  1. NM_000988.5 → NP_000979.1  large ribosomal subunit protein eL27

    See identical proteins and their annotated locations for NP_000979.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the protein. Variants 1-3 encode the same protein.
    Source sequence(s)
    AC055866
    Consensus CDS
    CCDS11449.1
    UniProtKB/Swiss-Prot
    P08526, P61353, Q4G0A9
    UniProtKB/TrEMBL
    B2R4D8
    Related
    ENSP00000253788.5, ENST00000253788.12
    Conserved Domains (1) summary
    cl00354
    Location:1 → 136
    KOW; an acronym for the authors' surnames (Kyrpides, Ouzounis and Woese)

  2. NM_001349921.2 → NP_001336850.1  large ribosomal subunit protein eL27

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1-3 encode the same protein.
    Source sequence(s)
    BC098560, BP203677
    Consensus CDS
    CCDS11449.1
    UniProtKB/Swiss-Prot
    P08526, P61353, Q4G0A9
    UniProtKB/TrEMBL
    B2R4D8
    Related
    ENSP00000467587.1, ENST00000589037.5
    Conserved Domains (1) summary
    cl00354
    Location:1 → 136
    KOW; an acronym for the authors' surnames (Kyrpides, Ouzounis and Woese)

  3. NM_001349922.2 → NP_001336851.1  large ribosomal subunit protein eL27

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) retains an intron in its 5' UTR compared to variant 1. Variants 1-3 encode the same protein.
    Source sequence(s)
    AC055866, AW404176, BC098560, CN302602
    Consensus CDS
    CCDS11449.1
    UniProtKB/Swiss-Prot
    P08526, P61353, Q4G0A9
    UniProtKB/TrEMBL
    B2R4D8
    Related
    ENSP00000464813.1, ENST00000589913.6
    Conserved Domains (1) summary
    cl00354
    Location:1 → 136
    KOW; an acronym for the authors' surnames (Kyrpides, Ouzounis and Woese)

RNA

  1. NR_146327.2 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) lacks an alternate internal exon compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    BC098560, BU955518, HY108539
    Related
    ENST00000588830.1

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_000017.11 Reference GRCh38.p14 Primary Assembly

    Range
    42998273..43002959
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060941.1 Alternate T2T-CHM13v2.0

    Range
    43855556..43860248
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P61353.2 GenPept UniProtKB/Swiss-Prot:P61353

Gene LinkOut

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

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