Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	51081
Gene name	Mitochondrial ribosomal protein S7
Gene symbol	MRPS7
Synonyms (NCBI Gene)	COXPD34MRP-SMRP-S7RP-S7RPMS7S7mtbMRP27auS7m
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

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miRTarBase ID	miRNA	Experiments
MIRT1160517	hsa-miR-1208	CLIP-seq
MIRT1160518	hsa-miR-125a-5p	CLIP-seq
MIRT1160519	hsa-miR-125b	CLIP-seq
MIRT1160520	hsa-miR-1273d	CLIP-seq
MIRT1160521	hsa-miR-1299	CLIP-seq
MIRT1160522	hsa-miR-1343	CLIP-seq
MIRT1160523	hsa-miR-191	CLIP-seq
MIRT1160524	hsa-miR-196a	CLIP-seq
MIRT1160525	hsa-miR-196b	CLIP-seq
MIRT1160526	hsa-miR-2115	CLIP-seq
MIRT1160527	hsa-miR-221	CLIP-seq
MIRT1160528	hsa-miR-222	CLIP-seq
MIRT1160529	hsa-miR-3074-5p	CLIP-seq
MIRT1160530	hsa-miR-3130-3p	CLIP-seq
MIRT1160531	hsa-miR-3159	CLIP-seq
MIRT1160532	hsa-miR-342-3p	CLIP-seq
MIRT1160533	hsa-miR-34a	CLIP-seq
MIRT1160534	hsa-miR-34c-5p	CLIP-seq
MIRT1160535	hsa-miR-3606	CLIP-seq
MIRT1160536	hsa-miR-3690	CLIP-seq
MIRT1160537	hsa-miR-4254	CLIP-seq
MIRT1160538	hsa-miR-4261	CLIP-seq
MIRT1160539	hsa-miR-4263	CLIP-seq
MIRT1160540	hsa-miR-4319	CLIP-seq
MIRT1160541	hsa-miR-4420	CLIP-seq
MIRT1160542	hsa-miR-4475	CLIP-seq
MIRT1160543	hsa-miR-449a	CLIP-seq
MIRT1160544	hsa-miR-449b	CLIP-seq
MIRT1160545	hsa-miR-452	CLIP-seq
MIRT1160546	hsa-miR-4676-3p	CLIP-seq
MIRT1160547	hsa-miR-4676-5p	CLIP-seq
MIRT1160548	hsa-miR-4682	CLIP-seq
MIRT1160549	hsa-miR-4688	CLIP-seq
MIRT1160550	hsa-miR-4714-3p	CLIP-seq
MIRT1160551	hsa-miR-4728-3p	CLIP-seq
MIRT1160552	hsa-miR-486-3p	CLIP-seq
MIRT1160553	hsa-miR-516a-3p	CLIP-seq
MIRT1160554	hsa-miR-548v	CLIP-seq
MIRT1160555	hsa-miR-549	CLIP-seq
MIRT1160556	hsa-miR-570	CLIP-seq
MIRT1160557	hsa-miR-575	CLIP-seq
MIRT1160558	hsa-miR-576-5p	CLIP-seq
MIRT1160559	hsa-miR-578	CLIP-seq
MIRT1160560	hsa-miR-580	CLIP-seq
MIRT1160561	hsa-miR-767-5p	CLIP-seq
MIRT1160562	hsa-miR-875-3p	CLIP-seq
MIRT1160526	hsa-miR-2115	CLIP-seq
MIRT1160527	hsa-miR-221	CLIP-seq
MIRT1160528	hsa-miR-222	CLIP-seq
MIRT1160530	hsa-miR-3130-3p	CLIP-seq
MIRT1160539	hsa-miR-4263	CLIP-seq
MIRT1160553	hsa-miR-516a-3p	CLIP-seq
MIRT2046144	hsa-miR-548a-3p	CLIP-seq
MIRT2046145	hsa-miR-548e	CLIP-seq
MIRT2046146	hsa-miR-548f	CLIP-seq
MIRT1160554	hsa-miR-548v	CLIP-seq
MIRT1160558	hsa-miR-576-5p	CLIP-seq
MIRT1160560	hsa-miR-580	CLIP-seq
MIRT1160561	hsa-miR-767-5p	CLIP-seq
MIRT1160523	hsa-miR-191	CLIP-seq
MIRT1160527	hsa-miR-221	CLIP-seq
MIRT1160528	hsa-miR-222	CLIP-seq
MIRT1160531	hsa-miR-3159	CLIP-seq
MIRT1160535	hsa-miR-3606	CLIP-seq
MIRT1160551	hsa-miR-4728-3p	CLIP-seq
MIRT1160554	hsa-miR-548v	CLIP-seq
MIRT1160560	hsa-miR-580	CLIP-seq
MIRT1160517	hsa-miR-1208	CLIP-seq
MIRT1160532	hsa-miR-342-3p	CLIP-seq
MIRT1160533	hsa-miR-34a	CLIP-seq
MIRT1160534	hsa-miR-34c-5p	CLIP-seq
MIRT1160543	hsa-miR-449a	CLIP-seq
MIRT1160544	hsa-miR-449b	CLIP-seq
MIRT1160545	hsa-miR-452	CLIP-seq
MIRT1160546	hsa-miR-4676-3p	CLIP-seq
MIRT1160517	hsa-miR-1208	CLIP-seq
MIRT2574213	hsa-miR-1291	CLIP-seq
MIRT2574214	hsa-miR-2467-3p	CLIP-seq
MIRT1160536	hsa-miR-3690	CLIP-seq
MIRT2574215	hsa-miR-378g	CLIP-seq
MIRT1160537	hsa-miR-4254	CLIP-seq
MIRT2574216	hsa-miR-4268	CLIP-seq
MIRT2574217	hsa-miR-4292	CLIP-seq
MIRT2574218	hsa-miR-4437	CLIP-seq
MIRT1160545	hsa-miR-452	CLIP-seq
MIRT2574219	hsa-miR-4674	CLIP-seq
MIRT1160546	hsa-miR-4676-3p	CLIP-seq
MIRT1160559	hsa-miR-578	CLIP-seq
MIRT1160517	hsa-miR-1208	CLIP-seq
MIRT2574213	hsa-miR-1291	CLIP-seq
MIRT2574214	hsa-miR-2467-3p	CLIP-seq
MIRT1160536	hsa-miR-3690	CLIP-seq
MIRT2574215	hsa-miR-378g	CLIP-seq
MIRT1160537	hsa-miR-4254	CLIP-seq
MIRT2574216	hsa-miR-4268	CLIP-seq
MIRT2574217	hsa-miR-4292	CLIP-seq
MIRT2574218	hsa-miR-4437	CLIP-seq
MIRT1160545	hsa-miR-452	CLIP-seq
MIRT2574219	hsa-miR-4674	CLIP-seq
MIRT1160546	hsa-miR-4676-3p	CLIP-seq
MIRT1160559	hsa-miR-578	CLIP-seq

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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	ISS
GO:0005739	Component	Mitochondrion	HTP	34800366
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:0005763	Component	Mitochondrial small ribosomal subunit	IBA
GO:0005763	Component	Mitochondrial small ribosomal subunit	IDA	25838379
GO:0005763	Component	Mitochondrial small ribosomal subunit	IEA
GO:0005763	Component	Mitochondrial small ribosomal subunit	ISS
GO:0005763	Component	Mitochondrial small ribosomal subunit	NAS	25838379
GO:0005840	Component	Ribosome	IBA
GO:0005840	Component	Ribosome	IEA
GO:0006412	Process	Translation	IBA
GO:0006412	Process	Translation	IEA
GO:0019843	Function	RRNA binding	IBA
GO:0032543	Process	Mitochondrial translation	ISS
GO:0032543	Process	Mitochondrial translation	NAS	27023846
GO:1990904	Component	Ribonucleoprotein complex	IEA

MIM	HGNC	e!Ensembl
611974	14499	ENSG00000125445

Q9Y2R9

Protein name

Small ribosomal subunit protein uS7m (28S ribosomal protein S7, mitochondrial) (MRP-S7) (S7mt) (bMRP-27a) (bMRP27a)

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
PF00177	Ribosomal_S7	69 → 234	Ribosomal protein S7p/S5e	Domain

Sequence

MAAPAVKVARGWSGLALGVRRAVLQLPGLTQVRWSRYSPEFKDPLIDKEYYRKPVEELTE
EEKYVRELKKTQLIKAAPAGKTSSVFEDPVISKFTNMMMIGGNKVLARSLMIQTLEAVKR
KQFEKYHAASAEEQATIERNPYTIFHQALKNCEPMIGLVPILKGGRFYQVPVPLPDRRRR
FLAMKWMITECRDKKHQRTLMPEKLSHKLLEAFHNQGPVIKRKHDLHKMAEANRALAHYR
WW

Sequence length

242

Interactions

View interactions

	KEGG		Reactome
	Ribosome		Mitochondrial translation elongation Mitochondrial translation termination

Show/Hide Causal Diseases (2)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Premature ovarian insufficiency	Likely pathogenic	rs2545055011	RCV003153253
Sensorineural hearing loss disorder	Likely pathogenic	rs2545055011	RCV003153253

Show/Hide Unknown Diseases (8)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Acute myeloid leukemia	Likely benign	rs200570062	RCV005896615
Combined oxidative phosphorylation deficiency 34	Uncertain significance; Benign; Conflicting classifications of pathogenicity	rs372546274, rs36039201, rs8075276, rs115047866, rs62085969	RCV001330695 RCV001776277 RCV001775790 RCV000579388 RCV001776055
Familial cancer of breast	Benign	rs2279162	RCV005919983
MRPS7-related disorder	Benign; Likely benign	rs35418346, rs112961013, rs114963701, rs892330067, rs1367517412, rs200570062, rs148641206	RCV003941058 RCV003931326 RCV003936585 RCV003952109 RCV003957142 RCV004758016 RCV003917926
See cases	Conflicting classifications of pathogenicity	rs115047866	RCV002252171
Thyroid cancer, nonmedullary, 1	Likely benign	rs200570062	RCV005896617
Uterine corpus endometrial carcinoma	Benign	rs113104724	RCV005925294
Uveal melanoma	Likely benign	rs200570062	RCV005896616

Show/Hide Text Mining Associations (6)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Breast Neoplasms	Associate	23172368
Carcinoma Hepatocellular	Associate	35510337
Cerebral Infarction	Associate	39290696
MELAS Syndrome	Associate	36254078
Osteosarcoma	Associate	32665038
Primary Ovarian Insufficiency	Associate	39379953

MRPS7 (mitochondrial ribosomal protein S7)