MRPL40 (mitochondrial ribosomal protein L40)

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Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases Related genes Diseases linked via similar genes

Gene

• Entrez ID: 64976
• Gene name: Mitochondrial ribosomal protein L40
• Gene symbol: MRPL40
• Synonyms (NCBI Gene): L40mt, MRP-L22, MRP-L40, MRPL22, NLVCF, URIM, mL40
• Chromosome: 22
• Chromosome location: 22q11.21
• 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 Show/Hide all (17)

miRTarBase ID	miRNA	Experiments	Reference
MIRT030492	hsa-miR-24-3p	Microarray	19748357
MIRT050804	hsa-miR-17-5p	CLASH	23622248
MIRT727154	hsa-miR-15a-5p	HITS-CLIP	22473208
MIRT727153	hsa-miR-15b-5p	HITS-CLIP	22473208
MIRT727152	hsa-miR-16-5p	HITS-CLIP	22473208
MIRT727151	hsa-miR-195-5p	HITS-CLIP	22473208
MIRT1159274	hsa-miR-3190	CLIP-seq
MIRT1159275	hsa-miR-3685	CLIP-seq
MIRT1159276	hsa-miR-3978	CLIP-seq
MIRT1159277	hsa-miR-4771	CLIP-seq
MIRT1159278	hsa-miR-4778-5p	CLIP-seq
MIRT1159279	hsa-miR-499a-5p	CLIP-seq
MIRT1159274	hsa-miR-3190	CLIP-seq
MIRT1159276	hsa-miR-3978	CLIP-seq
MIRT1159277	hsa-miR-4771	CLIP-seq
MIRT1159278	hsa-miR-4778-5p	CLIP-seq
MIRT1159279	hsa-miR-499a-5p	CLIP-seq

Gene ontology (GO) Show/Hide all (18)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003723	Function	RNA binding	HDA	22681889
GO:0005515	Function	Protein binding	IPI	25416956, 32296183
GO:0005634	Component	Nucleus	TAS	9790763
GO:0005730	Component	Nucleolus	IDA
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	IBA
GO:0005761	Component	Mitochondrial ribosome	ISS
GO:0005762	Component	Mitochondrial large ribosomal subunit	IDA	25278503, 28892042
GO:0005762	Component	Mitochondrial large ribosomal subunit	IEA
GO:0005762	Component	Mitochondrial large ribosomal subunit	NAS	25278503
GO:0005840	Component	Ribosome	IEA
GO:0009653	Process	Anatomical structure morphogenesis	TAS	9790763
GO:0032543	Process	Mitochondrial translation	NAS	27023846
GO:1990904	Component	Ribonucleoprotein complex	IEA

Other IDs

• MIM: 605089
• HGNC: 14491
• e!Ensembl: ENSG00000185608

Protein

• UniProt ID: Q9NQ50
• Protein name: Large ribosomal subunit protein mL40 (39S ribosomal protein L40, mitochondrial) (L40mt) (MRP-L40) (Nuclear localization signal-containing protein deleted in velocardiofacial syndrome) (Up-regulated in metastasis)
• 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 , 7QI4 , 7QI5
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF09812	MRP-L28	45 → 199	Mitochondrial ribosomal protein L28	Family

• Tissue specificity: TISSUE SPECIFICITY: Ubiquitous. {ECO:0000269|PubMed:9790763}.
• Sequence:

  MTASVLRSISLALRPTSGLLGTWQTQLRETHQRASLLSFWELIPMRSEPLRKKKKVDPKK
  DQEAKERLKRKIRKLEKATQELIPIEDFITPLKFLDKARERPQVELTFEETERRALLLKK
  WSLYKQQERKMERDTIRAMLEAQQEALEELQLESPKLHAEAIKRDPNLFPFEKEGPHYTP
  PIPNYQPPEGRYNDITKVYTQVEFKR

• Sequence length: 206

Pathways

Reactome Pathway

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 Show/Hide Unknown Diseases (11)
Phenotype Name	Clinical Significance	Source	Reference	Evidence Score
Acute myeloid leukemia	Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining Show/Hide Text Mining Associations (11)
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Breast Carcinoma	Breast Carcinoma	BEFREE	10226592		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	23172368, 35739158	Associate	★☆☆☆☆ Found in Text Mining only
Cerebral Infarction	Ischemic stroke	Pubtator	37322932	Associate	★☆☆☆☆ Found in Text Mining only
DiGeorge Syndrome	Digeorge syndrome	Pubtator	26221035	Associate	★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial neoplasm	Pubtator	35830453	Associate	★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	Pubtator	33883344	Associate	★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	10226592		★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	Pubtator	27718532	Associate	★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	10226592, 10953283		★☆☆☆☆ Found in Text Mining only
Polycystic Ovary Syndrome	Polycystic ovary syndrome	Pubtator	35830453	Associate	★☆☆☆☆ Found in Text Mining only
Shprintzen syndrome	Shprintzen Syndrome	BEFREE	9790763		★☆☆☆☆ Found in Text Mining only

Related Genes

Sort by: Blended Diseases Pathways Evidence source

MRPS31 2 shared pathwaysMitochondrial translation elongation, Mitochondrial translation termination Related via 2 shared pathways including Mitochondrial translation elongation, Mitochondrial translation termination. MRPS30 2 shared pathwaysMitochondrial translation elongation, Mitochondrial translation termination Related via 2 shared pathways including Mitochondrial translation elongation, Mitochondrial translation termination. MRPL53 2 shared pathwaysMitochondrial translation elongation, Mitochondrial translation termination Related via 2 shared pathways including Mitochondrial translation elongation, Mitochondrial translation termination. MRPL54 2 shared pathwaysMitochondrial translation elongation, Mitochondrial translation termination Related via 2 shared pathways including Mitochondrial translation elongation, Mitochondrial translation termination. CHCHD1 2 shared pathwaysMitochondrial translation elongation, Mitochondrial translation termination Related via 2 shared pathways including Mitochondrial translation elongation, Mitochondrial translation termination.

Related Gene	Shared Diseases	Shared Disease Names	Shared Pathways	Shared Pathway Names	Shared Evidence Sources	Shared Evidence Names
MRPS31	0	[]	2	["Mitochondrial translation elongation","Mitochondrial translation termination"]	0	[]
MRPS30	0	[]	2	["Mitochondrial translation elongation","Mitochondrial translation termination"]	0	[]
MRPL53	0	[]	2	["Mitochondrial translation elongation","Mitochondrial translation termination"]	0	[]
MRPL54	0	[]	2	["Mitochondrial translation elongation","Mitochondrial translation termination"]	0	[]
CHCHD1	0	[]	2	["Mitochondrial translation elongation","Mitochondrial translation termination"]	0	[]

Diseases Linked via Similar Genes

Myeloproliferative disorder Linked via 1 of 5 related genesMRPS31 Alzheimer disease Linked via 1 of 5 related genesMRPS30 Anorexia nervosa Linked via 1 of 5 related genesMRPS30 Attention deficit hyperactivity disorder Linked via 1 of 5 related genesMRPS30 Breast cancer Linked via 1 of 5 related genesMRPS30

Disease	Linked Via (Gene Count)	Linked Via (Gene Names)
Myeloproliferative disorder	1	["MRPS31"]
Alzheimer disease	1	["MRPS30"]
Anorexia nervosa	1	["MRPS30"]
Attention deficit hyperactivity disorder	1	["MRPS30"]
Breast cancer	1	["MRPS30"]