MRPS34 (mitochondrial ribosomal protein S34)

Gene

• Entrez ID: 65993
• Gene name: Mitochondrial ribosomal protein S34
• Gene symbol: MRPS34
• Synonyms: COXPD32, MRP-S12, MRP-S34, MRPS12, mS34
• Chromosome: 16
• Chromosome location: 16p13.3
• 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
MIRT020816	hsa-miR-155-5p	Proteomics	18668040
MIRT029599	hsa-miR-26b-5p	Microarray	19088304
MIRT050407	hsa-miR-23a-3p	CLASH	23622248
MIRT1160391	hsa-miR-1275	CLIP-seq
MIRT1160392	hsa-miR-2355-5p	CLIP-seq
MIRT1160393	hsa-miR-296-5p	CLIP-seq
MIRT1160394	hsa-miR-3153	CLIP-seq
MIRT1160395	hsa-miR-3166	CLIP-seq
MIRT1160396	hsa-miR-3670	CLIP-seq
MIRT1160397	hsa-miR-3679-3p	CLIP-seq
MIRT1160398	hsa-miR-4315	CLIP-seq
MIRT1160399	hsa-miR-4426	CLIP-seq
MIRT1160400	hsa-miR-4506	CLIP-seq
MIRT1160401	hsa-miR-4525	CLIP-seq
MIRT1160402	hsa-miR-4647	CLIP-seq
MIRT1160403	hsa-miR-4662b	CLIP-seq
MIRT1160404	hsa-miR-4665-5p	CLIP-seq
MIRT1160405	hsa-miR-4723-5p	CLIP-seq
MIRT1160406	hsa-miR-4771	CLIP-seq
MIRT1160407	hsa-miR-4792	CLIP-seq
MIRT1160408	hsa-miR-625	CLIP-seq
MIRT2046086	hsa-miR-103b	CLIP-seq
MIRT2046087	hsa-miR-1256	CLIP-seq
MIRT2046088	hsa-miR-1262	CLIP-seq
MIRT2046089	hsa-miR-1827	CLIP-seq
MIRT2046090	hsa-miR-214	CLIP-seq
MIRT2046091	hsa-miR-3128	CLIP-seq
MIRT2046092	hsa-miR-3151	CLIP-seq
MIRT2046093	hsa-miR-3619-5p	CLIP-seq
MIRT1160396	hsa-miR-3670	CLIP-seq
MIRT2046094	hsa-miR-376a	CLIP-seq
MIRT2046095	hsa-miR-376b	CLIP-seq
MIRT2046096	hsa-miR-3974	CLIP-seq
MIRT2046097	hsa-miR-4259	CLIP-seq
MIRT2046098	hsa-miR-4286	CLIP-seq
MIRT2046099	hsa-miR-4447	CLIP-seq
MIRT2046100	hsa-miR-4455	CLIP-seq
MIRT2046101	hsa-miR-4472	CLIP-seq
MIRT2046102	hsa-miR-4488	CLIP-seq
MIRT2046103	hsa-miR-4697-5p	CLIP-seq
MIRT2046104	hsa-miR-4701-3p	CLIP-seq
MIRT2046105	hsa-miR-4717-5p	CLIP-seq
MIRT2046106	hsa-miR-4720-5p	CLIP-seq
MIRT2046107	hsa-miR-4753-5p	CLIP-seq
MIRT1160406	hsa-miR-4771	CLIP-seq
MIRT1160407	hsa-miR-4792	CLIP-seq
MIRT2046108	hsa-miR-4799-3p	CLIP-seq
MIRT2046109	hsa-miR-486-3p	CLIP-seq
MIRT2046110	hsa-miR-491-5p	CLIP-seq
MIRT2046111	hsa-miR-571	CLIP-seq
MIRT2046112	hsa-miR-609	CLIP-seq
MIRT2046113	hsa-miR-761	CLIP-seq
MIRT1160391	hsa-miR-1275	CLIP-seq
MIRT1160394	hsa-miR-3153	CLIP-seq
MIRT2046100	hsa-miR-4455	CLIP-seq
MIRT1160400	hsa-miR-4506	CLIP-seq
MIRT1160401	hsa-miR-4525	CLIP-seq
MIRT1160404	hsa-miR-4665-5p	CLIP-seq
MIRT1160405	hsa-miR-4723-5p	CLIP-seq
MIRT1160408	hsa-miR-625	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003735	Function	Structural constituent of ribosome	IBA	21873635
GO:0003735	Function	Structural constituent of ribosome	IMP	28777931
GO:0005739	Component	Mitochondrion	IDA
GO:0005743	Component	Mitochondrial inner membrane	TAS
GO:0005763	Component	Mitochondrial small ribosomal subunit	IBA	21873635
GO:0005763	Component	Mitochondrial small ribosomal subunit	ISS
GO:0032543	Process	Mitochondrial translation	IBA	21873635
GO:0032543	Process	Mitochondrial translation	IMP	28777931
GO:0032543	Process	Mitochondrial translation	ISS
GO:0070125	Process	Mitochondrial translational elongation	TAS
GO:0070126	Process	Mitochondrial translational termination	TAS

Other IDs

• MIM: 611994
• HGNC: 16618
• e!Ensembl: ENSG00000074071

Protein

• UniProt ID: P82930
• Protein name: Small ribosomal subunit protein mS34 (28S ribosomal protein S34, mitochondrial) (MRP-S34) (S34mt)
• Protein function: Required for mitochondrial translation, plays a role in maintaining the stability of the small ribosomal subunit and the 12S rRNA that are required for mitoribosome formation.
• PDB: 3J9M, 6NU2, 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
  PF16053	MRP-S34	61 → 187	Mitochondrial 28S ribosomal protein S34	Family

• Sequence:

  MARKKVRPRLIAELARRVRALREQLNRPRDSQLYAVDYETLTRPFSGRRLPVRAWADVRR
  ESRLLQLLGRLPLFGLGRLVTRKSWLWQHDEPCYWRLTRVRPDYTAQNLDHGKAWGILTF
  KGKTESEAREIEHVMYHDWRLVPKHEEEAFTAFTPAPEDSLASVPYPPLLRAMIIAERQK
  NGDTSTEEPMLNVQRIRMEPWDYPAKQEDKGRAKGTPV

• Sequence length: 218

Pathways

Reactome:

Mitochondrial translation elongation
Mitochondrial translation termination

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
Combined oxidative phosphorylation deficiency	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 32	rs587776508, rs576462794, rs118203917, rs387906327, rs139430866, rs387906962, rs138119149, rs387907061, rs1562800908, rs397515421, rs397514598, rs397514610, rs397514611, rs397514612, rs201431517, rs397514613, rs397514614, rs200286768, rs397515463, rs397515464, rs397515465, rs397515466, rs587777218, rs587777244, rs587777417, rs587777418, rs587777419, rs587777583, rs587777584, rs587777585, rs587777589, rs587777591, rs587777593, rs587777594, rs115079861, rs587777788, rs144972972, rs606231472, rs869320746, rs886037734, rs730880255, rs886037735, rs886037736, rs730882154, rs730882155, rs794726869, rs114638163, rs143712760, rs780383722, rs200105202, rs1554169353, rs751459058, rs775690041, rs863224897, rs863225449, rs869025313, rs869025314, rs869025315, rs781798317, rs754022333, rs869320703, rs869320704, rs771894262, rs764427452, rs879255657, rs778100619, rs759477396, rs1057518742, rs1057518743, rs1057517685, rs1057519299, rs1057523346, rs1057524183, rs1060502161, rs184469579, rs1064794140, rs755122704, rs1064797230, rs202183509, rs1131691396, rs1131692037, rs1161932777, rs144042123, rs777725264, rs563189672, rs763672163, rs746538436, rs1554042187, rs767427194, rs1555532483, rs1394499137, rs1555532484, rs763658299, rs763770476, rs199863563, rs148620369, rs1554147776, rs761385155, rs1555575927, rs1555576642, rs1554169280, rs1407198979, rs1274363168, rs1555726849, rs770871640, rs1555404423, rs924099073, rs775439829, rs1554268077, rs1308121771, rs1047420796, rs1322974029, rs751069628, rs368934219, rs761709212, rs1555342802, rs761334309, rs1554116357, rs536000212, rs565910322, rs376766195, rs1562168768, rs763443331, rs1370579526, rs755068980, rs1567773277, rs761097220, rs780533096, rs746356243, rs1559114055, rs752550279, rs1559094461, rs146988468, rs1561990552, rs1298860043, rs746746116, rs1568293849, rs1559359546, rs1561938413, rs565224393, rs1565216037, rs1035101172, rs1565235204, rs763770414, rs764714439, rs777185638, rs1169927428, rs1229314240, rs1429774361, rs374954001, rs1599560256, rs1582724664, rs1574663066, rs778120270, rs1574675683, rs1365308037, rs1582970514, rs777028011, rs1582957532, rs1170907347, rs773688171, rs1777047446, rs947204455, rs1049082567, rs754537066, rs758094541, rs1689552727, rs2077262520, rs748779965, rs1785349774	28777931
Developmental delay	Global developmental delay	rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291, rs886041382, rs1057518991, rs1057518699, rs753254213, rs748294403, rs762552974, rs1135401795, rs1553121073, rs1553122926, rs1364690005, rs1554086554, rs1554210415, rs1554168326, rs1554776342, rs1553873247, rs1567860112, rs779009256, rs1557447255, rs1564568350, rs780011005, rs1597464953, rs1200336864, rs1569513017, rs1587459606, rs1570332505, rs748888652, rs1575155995, rs2087029320, rs1589669105, rs1601769604, rs1184981709, rs749201074
Developmental regression	Developmental regression	rs1224421127
Leigh syndrome	Leigh Disease	rs267606829, rs137852863, rs121908577, rs1445075330, rs121908985, rs104893898, rs28939679, rs104894705, rs1568985256, rs199476144, rs199474672, rs118192098, rs118192100, rs199476133, rs199476135, rs199476138, rs267606614, rs207459999, rs199476104, rs199476105, rs199476107, rs199476109, rs267606893, rs267606897, rs28384199, rs267606890, rs199476117, rs267606891, rs267606889, rs199476118, rs199476123, rs121918657, rs28933402, rs782316919, rs121913659, rs768050261, rs121913660, rs121913661, rs201431517, rs1556423632, rs587776949, rs201889294, rs398123061, rs398124308, rs587776434, rs587776438, rs587776440, rs1556423547, rs587776497, rs587776498, rs797045055, rs375169579, rs782490558, rs782190413, rs863224228, rs863224229, rs757486575, rs750831299, rs863224926, rs864309500, rs761389904, rs147816470, rs150613320, rs782623477, rs782007828, rs782349178, rs1057517942, rs199683937, rs1057521059, rs1057520688, rs781948238, rs782024654, rs782289759, rs1131692037, rs1161932777, rs1242159511, rs773850151, rs1553997617, rs1554768246, rs1410388157, rs1554059248, rs1554062427, rs1267554976, rs1391748504, rs376281345, rs772294726, rs1554768333, rs149718203, rs536758576, rs1555066709, rs1053850536, rs1564349176, rs782061187, rs762620949, rs1219762677, rs761097220, rs747359752, rs782609482, rs1229474296, rs782682492, rs1564349087, rs1588688823, rs1588691786, rs1603222000, rs1603223363, rs1603224017, rs1603220522, rs1603221804, rs1603222011, rs1603222119, rs1574663066, rs778120270, rs1574675683, rs1559047521, rs747249702, rs1244071473, rs1588693841, rs746519257, rs1591111808, rs766830864, rs1363125797, rs1836430953	2877793
Nystagmus	Nystagmus	rs137852207, rs137852208, rs1928435502, rs137852209, rs137852210, rs1929191668, rs137852211, rs137852212, rs2124209414, rs387906720, rs387906721, rs1602791884, rs786205896
Optic atrophy	Optic Atrophy	rs121434508, rs267607017, rs80356524, rs80356525, rs879255560, rs104893753, rs80356529, rs397515360, rs104893620, rs199476104, rs199476112, rs199476118, rs398124298, rs770066665, rs398124299, rs61750185, rs672601379, rs727504060, rs786204830, rs794727804, rs199946797, rs863224127, rs863224131, rs863224134, rs863224906, rs372054380, rs886037828, rs764791523, rs145639028, rs1057519312, rs1064794257, rs1064794656, rs1064797303, rs774265764, rs760337383, rs1553784985, rs72653786, rs1555229948, rs1555119216, rs761743852, rs1553785338, rs1020764190, rs782581701, rs1560408865, rs761460379, rs773022324, rs782740998, rs1560327427, rs80356528, rs1734162973, rs1716524583, rs1057368575

Unknown
Disease name	Disease term	dbSNP ID	References
Acquired kyphoscoliosis	Acquired Kyphoscoliosis
Choreoathetosis	Choreoathetosis
Congenital kyphoscoliosis	Congenital kyphoscoliosis
Exotropia	Exotropia
Gastroesophageal reflux disease	Gastroesophageal reflux disease
Ptosis	Blepharoptosis, Ptosis	rs139920573