RPL27 (ribosomal protein L27)

Gene

• Entrez ID: 6155
• Gene name: Ribosomal protein L27
• Gene symbol: RPL27
• Synonyms (NCBI Gene): DBA16, L27, eL27
• Disease Acronyms (UniProt): DBA16
• 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

SNPs

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

miRNA

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

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000184	Process	Nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	TAS
GO:0003723	Function	RNA binding	HDA	22658674, 22681889
GO:0003735	Function	Structural constituent of ribosome	IBA	21873635
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:0005829	Component	Cytosol	TAS
GO:0005840	Component	Ribosome	TAS	8148381
GO:0005925	Component	Focal adhesion	HDA	21423176
GO:0006364	Process	RRNA processing	IMP	25424902
GO:0006412	Process	Translation	NAS	12962325
GO:0006413	Process	Translational initiation	TAS
GO:0006614	Process	SRP-dependent cotranslational protein targeting to membrane	TAS
GO:0016020	Component	Membrane	HDA	19946888
GO:0019083	Process	Viral transcription	TAS
GO:0022625	Component	Cytosolic large ribosomal subunit	HDA	12962325
GO:0022625	Component	Cytosolic large ribosomal subunit	IBA	21873635
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

Other IDs

• MIM: 607526
• HGNC: 10328
• e!Ensembl: ENSG00000131469

Protein

• UniProt ID: 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

Pathways

KEGG:

Ribosome
Coronavirus disease - COVID-19

Reactome:

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)

Associated diseases

Causal
Disease term	Disease name	dbSNP ID	References
Anemia	Anemia, Anemia, Macrocytic, Anemia, Diamond-Blackfan	rs118204044, rs118204045, rs118204046, rs121918330, rs869320719, rs869312029, rs121918332, rs869320724, rs767094129, rs786205058, rs786205059, rs137853119, rs137853120, rs137853121, rs1384933966, rs137853122, rs137853123, rs786205060, rs267607121, rs121908584, rs80338697, rs80338699, rs120074166, rs120074167, rs1050828, rs74575103, rs137852314, rs5030868, rs137852316, rs137852317, rs137852318, rs137852319, rs137852320, rs137852321, rs137852322, rs137852323, rs137852324, rs72554665, rs387906468, rs5030872, rs137852326, rs137852333, rs137852327, rs137852328, rs137852329, rs137852330, rs137852331, rs137852332, rs137852334, rs137852335, rs137852336, rs137852339, rs76645461, rs137852340, rs137852341, rs78478128, rs137852343, rs137852344, rs137852345, rs587776730, rs137852346, rs137852347, rs137852349, rs2070404412, rs2070350038, rs2070350009, rs137852303, rs137852304, rs33946267, rs34378160, rs33933298, rs11549407, rs35724775, rs34598529, rs41469945, rs267607201, rs80338694, rs80338696, rs387907018, rs398123546, rs78365220, rs587777100, rs587777101, rs483352840, rs869312752, rs765487627, rs1557229599, rs1557230040, rs1555524842, rs782090947, rs1358275550, rs1557229736, rs1557230573, rs1556323334, rs1233124208, rs1293528130, rs146864395, rs1595503440, rs1603411214, rs137852325, rs1575247302, rs1603411177, rs1336651679, rs782322505	25424902, 28297620
Atrial septal defect	Atrial Septal Defects	rs137852951, rs137852953, rs137852955, rs267607106, rs104893900, rs104893901, rs104893903, rs606231358, rs606231359, rs137852683, rs606231360, rs104893907, rs104894073, rs1585703301, rs104894074, rs267606903, rs121912677, rs387906585, rs387906773, rs72554028, rs587782928, rs587782929, rs587782930, rs587784067, rs1555226315, rs879253754, rs1114167356, rs773922431, rs1554093487, rs1554093433, rs1554093461, rs1561621507, rs1561619801, rs766692577, rs1581108237, rs1581111034, rs1579663872, rs1583066622, rs1456289029, rs1761430125
Diamond-blackfan anemia	DIAMOND-BLACKFAN ANEMIA 16	rs121434389, rs1570566590, rs151155897, rs143951267, rs267607023, rs786200892, rs148622862, rs397507554, rs121434405, rs1571026775, rs142156224, rs267607021, rs1581931541, rs267607022, rs61762293, rs104894711, rs104894716, rs121908649, rs786200935, rs786200936, rs104894188, rs104894189, rs116840806, rs116840811, rs116840812, rs116840808, rs116840809, rs397518451, rs6991, rs587777117, rs587777118, rs587777119, rs587777120, rs587777568, rs587777569, rs148942765, rs786203998, rs797045919, rs878854146, rs886039545, rs1057519624, rs144337183, rs138938035, rs1057520746, rs1060503527, rs1060503688, rs1085307115, rs1085307119, rs1064794604, rs1555841379, rs1553121909, rs1555208596, rs1555841301, rs1555841356, rs1553121678, rs1553121795, rs1553121684, rs1553811551, rs1554841994, rs1555524370, rs1555524354, rs1558283792, rs1558283853, rs1558284033, rs1558284062, rs1560120302, rs869066130, rs1568796003, rs1567287990, rs1568425218, rs1564307664, rs1570566592, rs148673599, rs1571024385, rs1571024430, rs1581931439, rs1589326484, rs1570569383, rs146366047, rs111833764, rs1571032029, rs1572360944, rs1581106084, rs1644516691, rs1686990557, rs1686990676, rs149420497, rs1765648528, rs113752862, rs1704930969, rs1553284997	25424902
Leukemia	Acute leukemia	rs121909646, rs121913488, rs587776834, rs752746786, rs869312821, rs767454740, rs1554564297
Migraine	Migraine Disorders	rs794727411

Associations from Text Mining
Disease Name	Relationship Type	References
Adenocarcinoma of Lung	Associate	32769881
Alzheimer Disease	Associate	35766008
Breast Neoplasms	Associate	39838295
Carcinoma Hepatocellular	Associate	37956648
Glomerulosclerosis Focal Segmental	Associate	39519211
Hypoxia	Associate	39838295
Infertility Male	Associate	36369953
Intervertebral disc disease	Associate	33761671
Nasopharyngeal Carcinoma	Associate	28791303
Nasopharyngeal Neoplasms	Associate	28791303
Nephrosis Lipoid	Associate	39519211
Squamous Cell Carcinoma of Head and Neck	Associate	19650912