Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	6155
Gene name	Ribosomal protein L27
Gene symbol	RPL27
Synonyms (NCBI Gene)	DBA16L27eL27
Chromosome	17
Chromosome location	17q21.31
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

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SNP ID	Visualize variation	Clinical significance	Consequence
rs1085307119	G>A	Pathogenic	Splice acceptor variant, 5 prime UTR variant

Show/Hide all (14)

miRTarBase ID	miRNA	Experiments	Reference
MIRT026971	hsa-miR-107	Microarray	20489155
MIRT049040	hsa-miR-92a-3p	CLASH	23622248
MIRT048781	hsa-miR-93-5p	CLASH	23622248
MIRT045279	hsa-miR-186-5p	CLASH	23622248
MIRT044731	hsa-miR-320a	CLASH	23622248
MIRT043047	hsa-miR-324-5p	CLASH	23622248
MIRT039489	hsa-miR-652-3p	CLASH	23622248
MIRT039023	hsa-miR-766-3p	CLASH	23622248
MIRT1316416	hsa-miR-1323	CLIP-seq
MIRT1316417	hsa-miR-374a	CLIP-seq
MIRT1316418	hsa-miR-374b	CLIP-seq
MIRT1316419	hsa-miR-4775	CLIP-seq
MIRT1316420	hsa-miR-548o	CLIP-seq
MIRT1316421	hsa-miR-590-3p	CLIP-seq

Show/Hide all (36)

GO ID	Ontology	Definition	Evidence	Reference
GO:0002181	Process	Cytoplasmic translation	IC	23636399
GO:0002181	Process	Cytoplasmic translation	NAS	25901680
GO:0003723	Function	RNA binding	HDA	22658674, 22681889
GO:0003735	Function	Structural constituent of ribosome	IBA
GO:0003735	Function	Structural constituent of ribosome	IDA	23636399, 32669547
GO:0003735	Function	Structural constituent of ribosome	IEA
GO:0003735	Function	Structural constituent of ribosome	NAS	12962325
GO:0003735	Function	Structural constituent of ribosome	TAS	8148381
GO:0005515	Function	Protein binding	IPI	20926688, 26100019, 32814053
GO:0005634	Component	Nucleus	HDA	21630459
GO:0005654	Component	Nucleoplasm	IDA
GO:0005730	Component	Nucleolus	IDA
GO:0005737	Component	Cytoplasm	IEA
GO:0005737	Component	Cytoplasm	NAS	25901680
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005791	Component	Rough endoplasmic reticulum	IEA
GO:0005829	Component	Cytosol	IEA
GO:0005829	Component	Cytosol	TAS
GO:0005840	Component	Ribosome	IEA
GO:0005840	Component	Ribosome	TAS	8148381
GO:0005925	Component	Focal adhesion	HDA	21423176
GO:0006364	Process	RRNA processing	IMP	25424902
GO:0006412	Process	Translation	IEA
GO:0006412	Process	Translation	NAS	12962325
GO:0016020	Component	Membrane	HDA	19946888
GO:0022625	Component	Cytosolic large ribosomal subunit	HDA	12962325
GO:0022625	Component	Cytosolic large ribosomal subunit	IBA
GO:0022625	Component	Cytosolic large ribosomal subunit	IDA	32669547
GO:0022625	Component	Cytosolic large ribosomal subunit	IEA
GO:0022625	Component	Cytosolic large ribosomal subunit	IPI	25901680
GO:0022626	Component	Cytosolic ribosome	IDA	23636399
GO:0045202	Component	Synapse	IEA
GO:0070062	Component	Extracellular exosome	HDA	20458337
GO:0098556	Component	Cytoplasmic side of rough endoplasmic reticulum membrane	ISS
GO:1990904	Component	Ribonucleoprotein complex	IDA	18809582
GO:1990904	Component	Ribonucleoprotein complex	IEA

MIM	HGNC	e!Ensembl
607526	10328	ENSG00000131469

P61353

Protein name

Large ribosomal subunit protein eL27 (60S ribosomal protein L27)

Protein function

Component of the large ribosomal subunit (PubMed:12962325, PubMed:23636399, PubMed:25901680, PubMed:25957688, PubMed:32669547). Required for proper rRNA processing and maturation of 28S and 5.8S rRNAs (PubMed:25424902). {ECO:0000269|PubMed:23636

PDB

4UG0 , 4V6X , 5AJ0 , 5LKS , 5T2C , 6IP5 , 6IP6 , 6IP8 , 6LQM , 6LSR , 6LSS , 6LU8 , 6OLE , 6OLF , 6OLG , 6OLI , 6OLZ , 6OM0 , 6OM7 , 6QZP , 6W6L , 6XA1 , 6Y0G , 6Y2L , 6Y57 , 6Y6X , 6Z6L , 6Z6M , 6Z6N , 6ZM7 , 6ZME , 6ZMI , 6ZMO , 7BHP , 7F5S , 7OW7 , 8A3D , 8FKY , 8FKZ , 8FL2 , 8FL3 , 8FL4 , 8FL6 , 8FL7 , 8FL9 , 8FLA , 8FLB , 8FLC , 8FLD , 8FLE , 8FLF

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00467	KOW	7 → 40	KOW motif	Family
PF01777	Ribosomal_L27e	52 → 136	Ribosomal L27e protein family	Family

Sequence

MGKFMKPGKVVLVLAGRYSGRKAVIVKNIDDGTSDRPYSHALVAGIDRYPRKVTAAMGKK
KIAKRSKIKSFVKVYNYNHLMPTRYSVDIPLDKTVVNKDVFRDPALKRKARREAKVKFEE
RYKTGKNKWFFQKLRF

Sequence length

136

Interactions

View interactions

	KEGG		Reactome
	Ribosome Coronavirus disease - COVID-19		L13a-mediated translational silencing of Ceruloplasmin expression SRP-dependent cotranslational protein targeting to membrane Viral mRNA Translation Major pathway of rRNA processing in the nucleolus and cytosol Formation of a pool of free 40S subunits GTP hydrolysis and joining of the 60S ribosomal subunit Nonsense Mediated Decay (NMD) independent of the Exon Junction Complex (EJC) Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC)

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Causal Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Diamond-Blackfan anemia 16	Pathogenic	rs1085307119	RCV000477703	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (2)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
DIAMOND-BLACKFAN ANEMIA	—	Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RPL27-related disorder	Uncertain significance; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (25)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Aase Smith syndrome 2	Aase-Smith syndrome	ORPHANET_DG	25424902		★★★★★ ★☆☆☆☆ Found in Text Mining only
Acute leukemia	Leukemia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	35766008	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Anemia	Anemia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Anemia, Diamond-Blackfan	Anemia	BEFREE	25424902		★★★★★ ★☆☆☆☆ Found in Text Mining only
Anemia, Diamond-Blackfan	Anemia	ORPHANET_DG	25424902		★★★★★ ★☆☆☆☆ Found in Text Mining only
Anemia, Diamond-Blackfan	Anemia	GENOMICS_ENGLAND_DG	25424902, 28297620		★★★★★ ★☆☆☆☆ Found in Text Mining only
Anemia, Macrocytic	Anemia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Atrial Septal Defects	Atrial Septal Defect	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Blackfan-Diamond anemia	Blackfan-Diamond Anemia	Orphanet			★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	39838295	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	37956648	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
DIAMOND-BLACKFAN ANEMIA 16	Diamond-Blackfan anemia	GENOMICS_ENGLAND_DG	25424902		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
DIAMOND-BLACKFAN ANEMIA 16	Diamond-Blackfan anemia	CTD_human_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Dwarfism	Dwarfism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Glomerulosclerosis Focal Segmental	Focal segmental glomerulosclerosis	Pubtator	39519211	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	39838295	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Infertility Male	Male infertility	Pubtator	36369953	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Intervertebral disc disease	Intervertebral disc disease	Pubtator	33761671	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Migraine Disorders	Migraine	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Nasopharyngeal Carcinoma	Nasopharyngeal carcinoma	Pubtator	28791303	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Nasopharyngeal Neoplasms	Nasopharyngeal carcinoma	Pubtator	28791303	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Nephrosis Lipoid	Nephrotic syndrome	Pubtator	39519211	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Pulmonary Stenosis	Pulmonary Stenosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	19650912	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

RPL27 (ribosomal protein L27)