RPL27 ribosomal protein L27 [Homo sapiens (human)] - Gene

Summary

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: mouse all
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Genomic context

Location:: 17q21.31

Exon count:: 6

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	17	NC_000017.11 (42998273..43002959)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	17	NC_060941.1 (43855556..43860248)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	17	NC_000017.10 (41150290..41154976)

Chromosome 17 - NC_000017.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
RPL27 contributes to colorectal cancer proliferation and stemness via PLK1 signaling.
Title: RPL27 contributes to colorectal cancer proliferation and stemness via PLK1 signaling.
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.

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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)

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

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables RNA binding	HDA more info	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 more info	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 more info	PubMed
located_in focal adhesion	HDA more info	PubMed
located_in membrane	HDA more info	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 more info	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

EC 3.6.5.3

NP_001336850.1

EC 3.6.5.3

NP_001336851.1

EC 3.6.5.3

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

NG_053099.1 RefSeqGene

Range

5147..9687

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_1156

mRNA and Protein(s)

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)
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)
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

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