MRPL38 (mitochondrial ribosomal protein L38)

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

Gene

• Entrez ID: 64978
• Gene name: Mitochondrial ribosomal protein L38
• Gene symbol: MRPL38
• Synonyms (NCBI Gene): HSPC262, L38MT, MRP-L3, MRP-L38, RPML3, mL38
• Chromosome: 17
• Chromosome location: 17q25.1
• 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 (54)

miRTarBase ID	miRNA	Experiments	Reference
MIRT048000	hsa-miR-30c-5p	CLASH	23622248
MIRT040319	hsa-miR-615-3p	CLASH	23622248
MIRT039380	hsa-miR-421	CLASH	23622248
MIRT2045663	hsa-miR-128	CLIP-seq
MIRT2045664	hsa-miR-2861	CLIP-seq
MIRT2045665	hsa-miR-3145-5p	CLIP-seq
MIRT2045666	hsa-miR-3622a-3p	CLIP-seq
MIRT2045667	hsa-miR-3622b-3p	CLIP-seq
MIRT2045668	hsa-miR-4265	CLIP-seq
MIRT2045669	hsa-miR-4296	CLIP-seq
MIRT2045670	hsa-miR-4302	CLIP-seq
MIRT2045671	hsa-miR-4322	CLIP-seq
MIRT2045672	hsa-miR-4324	CLIP-seq
MIRT2045673	hsa-miR-4417	CLIP-seq
MIRT2045674	hsa-miR-4693-3p	CLIP-seq
MIRT2045675	hsa-miR-4728-5p	CLIP-seq
MIRT2045676	hsa-miR-483-3p	CLIP-seq
MIRT2274640	hsa-miR-2355-5p	CLIP-seq
MIRT2274641	hsa-miR-23a	CLIP-seq
MIRT2274642	hsa-miR-23b	CLIP-seq
MIRT2274643	hsa-miR-23c	CLIP-seq
MIRT2045665	hsa-miR-3145-5p	CLIP-seq
MIRT2045666	hsa-miR-3622a-3p	CLIP-seq
MIRT2045667	hsa-miR-3622b-3p	CLIP-seq
MIRT2274644	hsa-miR-3926	CLIP-seq
MIRT2274645	hsa-miR-4286	CLIP-seq
MIRT2045672	hsa-miR-4324	CLIP-seq
MIRT2045674	hsa-miR-4693-3p	CLIP-seq
MIRT2045675	hsa-miR-4728-5p	CLIP-seq
MIRT2045676	hsa-miR-483-3p	CLIP-seq
MIRT2274646	hsa-miR-583	CLIP-seq
MIRT2573554	hsa-miR-1207-5p	CLIP-seq
MIRT2573555	hsa-miR-124	CLIP-seq
MIRT2045663	hsa-miR-128	CLIP-seq
MIRT2045664	hsa-miR-2861	CLIP-seq
MIRT2573556	hsa-miR-3714	CLIP-seq
MIRT2573557	hsa-miR-3910	CLIP-seq
MIRT2573558	hsa-miR-3918	CLIP-seq
MIRT2274644	hsa-miR-3926	CLIP-seq
MIRT2045668	hsa-miR-4265	CLIP-seq
MIRT2045669	hsa-miR-4296	CLIP-seq
MIRT2045670	hsa-miR-4302	CLIP-seq
MIRT2045671	hsa-miR-4322	CLIP-seq
MIRT2045673	hsa-miR-4417	CLIP-seq
MIRT2573559	hsa-miR-4633-3p	CLIP-seq
MIRT2573560	hsa-miR-4711-3p	CLIP-seq
MIRT2045675	hsa-miR-4728-5p	CLIP-seq
MIRT2573561	hsa-miR-4757-5p	CLIP-seq
MIRT2573562	hsa-miR-4763-3p	CLIP-seq
MIRT2573563	hsa-miR-506	CLIP-seq
MIRT2573564	hsa-miR-511	CLIP-seq
MIRT2573565	hsa-miR-516b	CLIP-seq
MIRT2274646	hsa-miR-583	CLIP-seq
MIRT2573566	hsa-miR-940	CLIP-seq

Gene ontology (GO) Show/Hide all (14)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	23455924, 25278503, 28514442, 30021884, 32296183, 33961781
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:0005762	Component	Mitochondrial large ribosomal subunit	IBA
GO:0005762	Component	Mitochondrial large ribosomal subunit	IDA	25278503, 28892042
GO:0005762	Component	Mitochondrial large ribosomal subunit	NAS	25278503
GO:0005829	Component	Cytosol	IDA
GO:0005840	Component	Ribosome	IEA
GO:0032543	Process	Mitochondrial translation	NAS	27023846
GO:1990904	Component	Ribonucleoprotein complex	IEA

Other IDs

• MIM: 611844
• HGNC: 14033
• e!Ensembl: ENSG00000204316

Protein

• UniProt ID: Q96DV4
• Protein name: Large ribosomal subunit protein mL38 (39S ribosomal protein L38, mitochondrial) (L38mt) (MRP-L38)
• 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
  PF01161	PBP	184 → 312	Phosphatidylethanolamine-binding protein	Domain

• Sequence:

  MAAPWWRAALCECRRWRGFSTSAVLGRRTPPLGPMPNSDIDLSNLERLEKYRSFDRYRRR
  AEQEAQAPHWWRTYREYFGEKTDPKEKIDIGLPPPKVSRTQQLLERKQAIQELRANVEEE
  RAARLRTASVPLDAVRAEWERTCGPYHKQRLAEYYGLYRDLFHGATFVPRVPLHVAYAVG
  EDDLMPVYCGNEVTPTEAAQAPEVTYEAEEGSLWTLLLTSLDGHLLEPDAEYLHWLLTNI
  PGNRVAEGQVTCPYLPPFPARGSGIHRLAFLLFKQDQPIDFSEDARPSPCYQLAQRTFRT
  FDFYKKHQETMTPAGLSFFQCRWDDSVTYIFHQLLDMREPVFEFVRPPPYHPKQKRFPHR
  QPLRYLDRYRDSHEPTYGIY

• Sequence length: 380

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
Phenotype Name	Clinical Significance	Source	Reference	Evidence Score
Lung cancer	Uncertain significance	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
mitochondrial disease	—	ClinGen	ClinGen report	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	31272500	Associate	★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of liver	Liver Cancer	BEFREE	31272500		★☆☆☆☆ Found in Text Mining only

Related Genes

Sort by: Blended Diseases Pathways Evidence source

MRPL39 1 shared diseaseMitochondrial disease 2 shared pathwaysMitochondrial translation elongation, Mitochondrial translation termination 1 shared evidence sourceClinGen (Mitochondrial disease) Related via 2 shared pathways including Mitochondrial translation elongation, Mitochondrial translation termination — evidence mostly ClinGen. MRPL44 1 shared diseaseMitochondrial disease 2 shared pathwaysMitochondrial translation elongation, Mitochondrial translation termination 1 shared evidence sourceClinGen (Mitochondrial disease) Related via 2 shared pathways including Mitochondrial translation elongation, Mitochondrial translation termination — evidence mostly ClinGen. MRPS22 1 shared diseaseMitochondrial disease 2 shared pathwaysMitochondrial translation elongation, Mitochondrial translation termination 1 shared evidence sourceClinGen (Mitochondrial disease) Related via 2 shared pathways including Mitochondrial translation elongation, Mitochondrial translation termination — evidence mostly ClinGen. MRPS25 1 shared diseaseMitochondrial disease 2 shared pathwaysMitochondrial translation elongation, Mitochondrial translation termination 1 shared evidence sourceClinGen (Mitochondrial disease) Related via 2 shared pathways including Mitochondrial translation elongation, Mitochondrial translation termination — evidence mostly ClinGen. MRPS28 1 shared diseaseMitochondrial disease 2 shared pathwaysMitochondrial translation elongation, Mitochondrial translation termination 1 shared evidence sourceClinGen (Mitochondrial disease) Related via 2 shared pathways including Mitochondrial translation elongation, Mitochondrial translation termination — evidence mostly ClinGen.

Related Gene	Shared Diseases	Shared Disease Names	Shared Pathways	Shared Pathway Names	Shared Evidence Sources	Shared Evidence Names
MRPL39	1	["Mitochondrial disease"]	2	["Mitochondrial translation elongation","Mitochondrial translation termination"]	1	["ClinGen (Mitochondrial disease)"]
MRPL44	1	["Mitochondrial disease"]	2	["Mitochondrial translation elongation","Mitochondrial translation termination"]	1	["ClinGen (Mitochondrial disease)"]
MRPS22	1	["Mitochondrial disease"]	2	["Mitochondrial translation elongation","Mitochondrial translation termination"]	1	["ClinGen (Mitochondrial disease)"]
MRPS25	1	["Mitochondrial disease"]	2	["Mitochondrial translation elongation","Mitochondrial translation termination"]	1	["ClinGen (Mitochondrial disease)"]
MRPS28	1	["Mitochondrial disease"]	2	["Mitochondrial translation elongation","Mitochondrial translation termination"]	1	["ClinGen (Mitochondrial disease)"]

Diseases Linked via Similar Genes

Combined oxidative phosphorylation deficiency Linked via 5 of 5 related genesMRPL39, MRPL44, MRPS22, MRPS25, MRPS28 Breast neoplasms Linked via 2 of 5 related genesMRPS22, MRPS28 Alzheimer disease Linked via 1 of 5 related genesMRPL39 46,xy gonadal dysgenesis Linked via 1 of 5 related genesMRPS22 Androgenetic alopecia Linked via 1 of 5 related genesMRPS22

Disease	Linked Via (Gene Count)	Linked Via (Gene Names)
Combined oxidative phosphorylation deficiency	5	["MRPL39","MRPL44","MRPS22","MRPS25","MRPS28"]
Breast neoplasms	2	["MRPS22","MRPS28"]
Alzheimer disease	1	["MRPL39"]
46,xy gonadal dysgenesis	1	["MRPS22"]
Androgenetic alopecia	1	["MRPS22"]