MRPL13 (mitochondrial ribosomal protein L13)

Gene

• Entrez ID: 28998
• Gene name: Mitochondrial ribosomal protein L13
• Gene symbol: MRPL13
• Synonyms (NCBI Gene): L13, L13A, L13mt, RPL13, RPML13, uL13m
• Chromosome: 8
• Chromosome location: 8q24.12
• 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
MIRT024315	hsa-miR-215-5p	Microarray	19074876
MIRT026575	hsa-miR-192-5p	Microarray	19074876
MIRT050566	hsa-miR-20a-5p	CLASH	23622248
MIRT440216	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT440216	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT1158434	hsa-miR-4795-3p	CLIP-seq
MIRT2274394	hsa-miR-1200	CLIP-seq
MIRT2274395	hsa-miR-128	CLIP-seq
MIRT2274396	hsa-miR-2355-5p	CLIP-seq
MIRT2274397	hsa-miR-3144-3p	CLIP-seq
MIRT2274398	hsa-miR-3145-5p	CLIP-seq
MIRT2274399	hsa-miR-3667-3p	CLIP-seq
MIRT2274400	hsa-miR-3679-3p	CLIP-seq
MIRT2274401	hsa-miR-4286	CLIP-seq
MIRT2274402	hsa-miR-4724-3p	CLIP-seq
MIRT2274403	hsa-miR-4793-5p	CLIP-seq
MIRT2274404	hsa-miR-508-5p	CLIP-seq
MIRT2274405	hsa-miR-875-5p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003723	Function	RNA binding	HDA	22658674, 22681889
GO:0003729	Function	MRNA binding	IBA
GO:0003735	Function	Structural constituent of ribosome	IBA
GO:0003735	Function	Structural constituent of ribosome	IEA
GO:0003735	Function	Structural constituent of ribosome	NAS	11279069
GO:0005515	Function	Protein binding	IPI	20601428, 32814053
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IDA	28892042
GO:0005739	Component	Mitochondrion	IEA
GO:0005743	Component	Mitochondrial inner membrane	NAS	27023846
GO:0005743	Component	Mitochondrial inner membrane	TAS
GO:0005761	Component	Mitochondrial ribosome	IDA	20601428
GO:0005761	Component	Mitochondrial ribosome	IEA
GO:0005762	Component	Mitochondrial large ribosomal subunit	IBA
GO:0005762	Component	Mitochondrial large ribosomal subunit	IDA	21531335, 25278503, 28892042
GO:0005762	Component	Mitochondrial large ribosomal subunit	NAS	11279069, 25278503
GO:0005840	Component	Ribosome	IBA
GO:0005840	Component	Ribosome	IEA
GO:0006412	Process	Translation	IEA
GO:0006412	Process	Translation	NAS	11279069
GO:0017148	Process	Negative regulation of translation	IBA
GO:0032543	Process	Mitochondrial translation	NAS	27023846
GO:1990904	Component	Ribonucleoprotein complex	IEA

Other IDs

• MIM: 610200
• HGNC: 14278
• e!Ensembl: ENSG00000172172

Protein

• UniProt ID: Q9BYD1
• Protein name: Large ribosomal subunit protein uL13m (39S ribosomal protein L13, mitochondrial) (L13mt) (MRP-L13)
• 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, 7OI6, 7OI7, 7OI8, 7OI9, 7OIA, 7OIB, 7OIC, 7OID, 7OIE, 7PD3, 7PO4, 7QH6
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00572	Ribosomal_L13	16 → 134	Ribosomal protein L13	Family

• Sequence:

  MSSFSRAPQQWATFARIWYLLDGKMQPPGKLAAMASIRLQGLHKPVYHALSDCGDHVVIM
  NTRHIAFSGNKWEQKVYSSHTGYPGGFRQVTAAQLHLRDPVAIVKLAIYGMLPKNLHRRT
  MMERLHLFPDEYIPEDILKNLVEELPQPRKIPKRLDEYTQEEIDAFPRLWTPPEDYRL

• Sequence length: 178

Pathways

KEGG:

Ribosome

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
BREAST NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARCINOMA, SQUAMOUS CELL	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MOUTH NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
STOMACH NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Alzheimer Disease	Alzheimer disease	Pubtator	25129075	Associate	★☆☆☆☆ Found in Text Mining only
Anemia, Diamond-Blackfan	Anemia	GENOMICS_ENGLAND_DG	25424902		★☆☆☆☆ Found in Text Mining only
Atypical Hemolytic Uremic Syndrome	Hemolytic uremic syndrome	Pubtator	37373158	Associate	★☆☆☆☆ Found in Text Mining only
Bone Diseases, Developmental	Bone Disease	BEFREE	31630789		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	CTD_human_DG	21466612		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	9413939		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	32977823, 34707800, 35739158, 36267313, 38310106	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Breast Neoplasms	Breast neoplasm	Pubtator	34868337	Stimulate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	28978646	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	34868337	Stimulate	★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	25225161	Associate	★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	BEFREE	11773032		★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	Pubtator	11773032	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	34868337	Stimulate	★☆☆☆☆ Found in Text Mining only
Depressive Disorder Major	Major depressive disorder	Pubtator	37327287	Associate	★☆☆☆☆ Found in Text Mining only
Down Syndrome	Down syndrome	Pubtator	16100769	Associate	★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	BEFREE	31630789		★☆☆☆☆ Found in Text Mining only
Growth Disorders	Growth disorder	Pubtator	40725227	Associate	★☆☆☆☆ Found in Text Mining only
Hereditary Diffuse Gastric Cancer	Gastric Cancer	CTD_human_DG	21364753		★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	30184115		★☆☆☆☆ Found in Text Mining only
Hypospadias	Hypospadias	Pubtator	40725227	Associate	★☆☆☆☆ Found in Text Mining only
Infertility Male	Male infertility	Pubtator	36369953	Associate	★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	CTD_human_DG	21466612		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	9413939		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of gastrointestinal tract	Malignant gastrointestinal tract tumors	BEFREE	16786168		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of mouth	Malignant neoplasm of mouth	CTD_human_DG	15274141		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	10329586		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	CTD_human_DG	21364753		★☆☆☆☆ Found in Text Mining only
Mammary Carcinoma, Human	Marfan Syndrome	CTD_human_DG	21466612		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	CTD_human_DG	21466612		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	9413939		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms, Human	Mammary Neoplasms	CTD_human_DG	21466612		★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	35970041	Associate	★☆☆☆☆ Found in Text Mining only
Mouth Neoplasms	Mouth Neoplasms	CTD_human_DG	15274141		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Multiple Sclerosis	Multiple sclerosis	Pubtator	23077530	Associate	★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	10329586, 28978646, 9413939		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	10329586		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	10027329, 10329586	Associate	★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	34868337	Stimulate	★☆☆☆☆ Found in Text Mining only
Sarcoma Kaposi	Sarcoma	Pubtator	40016701	Associate	★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	LHGDN	19034380		★☆☆☆☆ Found in Text Mining only
Spondyloepimetaphyseal disorder	Spondyloepimetaphyseal dysplasia	BEFREE	31630789		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	CTD_human_DG	15274141		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach Neoplasms	CTD_human_DG	21364753		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	34868337	Stimulate	★☆☆☆☆ Found in Text Mining only