MRPS28 (mitochondrial ribosomal protein S28)

Gene

• Entrez ID: 28957
• Gene name: Mitochondrial ribosomal protein S28
• Gene symbol: MRPS28
• Synonyms (NCBI Gene): COXPD47, HSPC007, MRP-S28, MRP-S35, MRPS35
• Chromosome: 8
• Chromosome location: 8q21.13
• 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
MIRT028763	hsa-miR-26b-5p	Microarray	19088304
MIRT2275140	hsa-miR-1298	CLIP-seq
MIRT2275141	hsa-miR-4291	CLIP-seq
MIRT2275142	hsa-miR-4705	CLIP-seq
MIRT2275143	hsa-miR-4729	CLIP-seq
MIRT2275144	hsa-miR-545	CLIP-seq
MIRT2275145	hsa-miR-617	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003723	Function	RNA binding	HDA	22658674, 22681889
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IDA
GO:0005739	Component	Mitochondrion	IEA
GO:0005743	Component	Mitochondrial inner membrane	NAS	27023846
GO:0005743	Component	Mitochondrial inner membrane	TAS
GO:0005763	Component	Mitochondrial small ribosomal subunit	IBA
GO:0005763	Component	Mitochondrial small ribosomal subunit	NAS	25838379
GO:0005763	Component	Mitochondrial small ribosomal subunit	TAS	10938081
GO:0005840	Component	Ribosome	IEA
GO:0032543	Process	Mitochondrial translation	IMP	30566640
GO:0032543	Process	Mitochondrial translation	NAS	27023846
GO:1990904	Component	Ribonucleoprotein complex	IEA

Other IDs

• MIM: 611990
• HGNC: 14513
• e!Ensembl: ENSG00000147586

Protein

• UniProt ID: Q9Y2Q9
• Protein name: Small ribosomal subunit protein bS1m (28S ribosomal protein S28, mitochondrial) (MRP-S28) (S28mt) (28S ribosomal protein S35, mitochondrial) (MRP-S35) (S35mt)
• PDB: 3J9M, 6NU2, 6NU3, 6RW4, 6RW5, 6VLZ, 6VMI, 6ZM5, 6ZM6, 6ZS9, 6ZSA, 6ZSB, 6ZSC, 6ZSD, 6ZSE, 6ZSG, 7A5F, 7A5G, 7A5I, 7A5K, 7L08, 7OG4, 7P2E, 7PNX, 7PNY, 7PNZ, 7PO0, 7PO1, 7PO2, 7PO3, 7QI4, 7QI5, 7QI6, 8ANY, 8CSP, 8CSQ, 8CSR, 8CSS, 8CST, 8CSU, 8K2A, 8OIR, 8OIS, 8QRK, 8QRL, 8QRM, 8QRN, 8RRI, 8XT0, 8XT2
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF10246	MRP-S35	74 → 178	Mitochondrial ribosomal protein MRP-S35	Family

• Sequence:

  MAALCRTRAVAAESHFLRVFLFFRPFRGVGTESGSESGSSNAKEPKTRAGGFASALERHS
  ELLQKVEPLQKGSPKNVESFASMLRHSPLTQMGPAKDKLVIGRIFHIVENDLYIDFGGKF
  HCVCRRPEVDGEKYQKGTRVRLRLLDLELTSRFLGATTDTTVLEANAVLLGIQESKDSRS
  KEEHHEK

• Sequence length: 187

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)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Combined oxidative phosphorylation deficiency 47	Pathogenic	rs1808705345	RCV001250730	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
BREAST NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DISORDER OF DEVELOPMENT OR MORPHOGENESIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MITOCHONDRIAL DISEASE	—	ClinGen, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MITOCHONDRIAL DISEASES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MRPS28-related disorder	Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations