MRPL48 (mitochondrial ribosomal protein L48)

Gene

• Entrez ID: 51642
• Gene name: Mitochondrial ribosomal protein L48
• Gene symbol: MRPL48
• Synonyms (NCBI Gene): CGI-118, HSPC290, L48MT, MRP-L48, mL48
• Chromosome: 11
• Chromosome location: 11q13.4
• Summary: Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% prot

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT2274768	hsa-miR-1224-5p	CLIP-seq
MIRT2274769	hsa-miR-1225-5p	CLIP-seq
MIRT2274770	hsa-miR-1271	CLIP-seq
MIRT2274771	hsa-miR-182	CLIP-seq
MIRT2274772	hsa-miR-193a-3p	CLIP-seq
MIRT2274773	hsa-miR-193b	CLIP-seq
MIRT2274774	hsa-miR-323-3p	CLIP-seq
MIRT2274775	hsa-miR-3622b-5p	CLIP-seq
MIRT2274776	hsa-miR-4506	CLIP-seq
MIRT2274777	hsa-miR-4517	CLIP-seq
MIRT2274778	hsa-miR-4720-5p	CLIP-seq
MIRT2274779	hsa-miR-4751	CLIP-seq
MIRT2274780	hsa-miR-4753-3p	CLIP-seq
MIRT2274781	hsa-miR-4794	CLIP-seq
MIRT2274782	hsa-miR-4799-3p	CLIP-seq
MIRT2274783	hsa-miR-892b	CLIP-seq
MIRT2274784	hsa-miR-9	CLIP-seq
MIRT2274785	hsa-miR-942	CLIP-seq
MIRT2274786	hsa-miR-96	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	20601428
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IDA	28892042
GO:0005739	Component	Mitochondrion	IEA
GO:0005743	Component	Mitochondrial inner membrane	IEA
GO:0005743	Component	Mitochondrial inner membrane	NAS	27023846
GO:0005743	Component	Mitochondrial inner membrane	TAS
GO:0005761	Component	Mitochondrial ribosome	IBA
GO:0005761	Component	Mitochondrial ribosome	IDA	20601428
GO:0005761	Component	Mitochondrial ribosome	IEA
GO:0005762	Component	Mitochondrial large ribosomal subunit	IDA	25278503, 28892042
GO:0005762	Component	Mitochondrial large ribosomal subunit	NAS	25278503
GO:0005840	Component	Ribosome	IEA
GO:0032543	Process	Mitochondrial translation	NAS	27023846
GO:1990904	Component	Ribonucleoprotein complex	IEA

Other IDs

• MIM: 611853
• HGNC: 16653
• e!Ensembl: ENSG00000175581

Protein

• UniProt ID: Q96GC5
• Protein name: Large ribosomal subunit protein mL48 (39S ribosomal protein L48, mitochondrial) (L48mt) (MRP-L48)
• PDB: 3J7Y, 3J9M, 5OOL, 5OOM, 6I9R, 6NU2, 6NU3, 6VLZ, 6VMI, 6ZM5, 6ZM6, 6ZS9, 6ZSA, 6ZSB, 6ZSC, 6ZSD, 6ZSE, 6ZSG, 7A5F, 7A5G, 7A5H, 7A5I, 7A5J, 7A5K, 7L08, 7L20, 7O9K, 7O9M, 7ODR, 7ODS, 7ODT, 7OF0, 7OF2, 7OF3, 7OF4, 7OF5, 7OF6, 7OF7, 7OG4, 7OI7, 7OI8, 7OI9, 7OIA, 7OIB, 7OIC, 7OID, 7OIE, 7PD3, 7PO4, 7QH7, 7QI4
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00338	Ribosomal_S10	92 → 187	Ribosomal protein S10p/S20e	Family

• Sequence:

  MSGTLEKVLCLRNNTIFKQAFSLLRFRTSGEKPIYSVGGILLSISRPYKTKPTHGIGKYK
  HLIKAEEPKKKKGKVEVRAINLGTDYEYGVLNIHLTAYDMTLAESYAQYVHNLCNSLSIK
  VEESYAMPTKTIEVLQLQDQGSKMLLDSVLTTHERVVQISGLSATFAEIFLEIIQSSLPE
  GVRLSVKEHTEEDFKGRFKARPELEELLAKLK

• Sequence length: 212

Pathways

Reactome:

Mitochondrial translation elongation
Mitochondrial translation termination

Associated diseases

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)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
BENIGN NEOPLASM	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST BENIGN NEOPLASM	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBESITY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Relationship Type	References	Evidence Score
Adrenocortical Carcinoma	Associate	20231622	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Stimulate	38093387	★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Associate	33048115	★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Stimulate	38093387	★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Associate	38093387	★☆☆☆☆ Found in Text Mining only
Retinoblastoma	Associate	38093387	★☆☆☆☆ Found in Text Mining only