CleftGeneDB-Search

Gene: MRPL53

Basic information

Tag	Content
Uniprot ID	Q96EL3
Entrez ID	116540
Genbank protein ID	AAH12163.1
Genbank nucleotide ID	NM_053050.4
Ensembl protein ID	ENSP00000258105
Ensembl nucleotide ID	ENSG00000204822
Gene name	39S ribosomal protein L53, mitochondrial
Gene symbol	MRPL53
Organism	Homo sapiens
NCBI taxa ID	9606
Cleft type
Developmental stage
Data sources	Manually collected
Reference	29053389
Functional description
Sequence	MAAALARLGL RPVKQVRVQF CPFEKNVEST RTFLQTVSSE KVRSTNLNCS VIADVRHDGS 60 EPCVDVLFGD GHRLIMRGAH LTALEMLTAF ASHIRARDAA GSGDKPGADT GR 112

Abbreviation :
CLO : cleft lip only. CPO : cleft palate only. CLP : cleft lip and palate. CL/P : cleft lip with/without cleft palate.
For humans: CL/P, CLO, CPO, and CLP. For mice: CLO, CLP, and CPO.

Gene expression information

Gene expression in different tissues (GTEx V7)

Gene expression in different tissues (ENCODE)

Protein structural annotations

3D structure in PDB database

PDB ID
3J7Y
3J9M
5OOL
5OOM
6NU2
6NU3
3J7Y
3J9M
5OOL

Protein disorder information

Orthologous information

Relation	Gene symbol	Entrez ID	UniProt ID	Species	Evidence	Details
1:1 ortholog	MRPL53	505728	Q2HJF1	Bos taurus	Prediction	More>>
1:1 ortholog	MRPL53	116540	Q96EL3	Homo sapiens	Publication	More>>
1:1 ortholog	Mrpl53	68499	Q9D1H8	Mus musculus	Prediction	More>>
1:1 ortholog	MRPL53	459335	H2QI65	Pan troglodytes	Prediction	More>>
1:1 ortholog	MRPL53		G1T980	Oryctolagus cuniculus	Prediction	More>>
1:1 ortholog	Mrpl53	362388	B2RYW4	Rattus norvegicus	Prediction	More>>
1:1 ortholog	mrpl53	447915	Q66I54	Danio rerio	Prediction	More>>

Identified variants/mutations related to cleft phenotype

Gene symbol	Significant Variants/SNPS	Methods	PubMed ID
MRPL53	rs6546909	Genotyping for eQTL analysis	29053389
MRPL53	rs1063588;	Genotyping for eQTL analysis	29053389
MRPL53	rs141704877	Sanger sequencing	29053389
MRPL53	rs78834087	Sanger sequencing	29053389
MRPL53	rs148007344	Sanger sequencing	29053389
MRPL53	rs139817903	Sanger sequencing	29053389
MRPL53	rs1047911	Sanger sequencing	29053389

Other genetic variants/mutations

ID	Variant	Type	Disease	Chromosome\Coordinate	Evidence
rs1482994789	p.Ala2Glu	missense variant	-	NC_000002.12:g.74472656G>T	TOPMed
rs142719386	p.Ala3Thr	missense variant	-	NC_000002.12:g.74472654C>T	ESP,ExAC,TOPMed,gnomAD
rs779401249	p.Ala4Val	missense variant	-	NC_000002.12:g.74472650G>A	ExAC,TOPMed,gnomAD
rs1047911	p.Ala4Thr	missense variant	-	NC_000002.12:g.74472651C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1047911	p.Ala4Ser	missense variant	-	NC_000002.12:g.74472651C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs779401249	p.Ala4Asp	missense variant	-	NC_000002.12:g.74472650G>T	ExAC,TOPMed,gnomAD
rs980701129	p.Leu5Ser	missense variant	-	NC_000002.12:g.74472647A>G	TOPMed
rs758825200	p.Leu5Phe	missense variant	-	NC_000002.12:g.74472646C>A	ExAC,TOPMed,gnomAD
rs150499635	p.Arg7Trp	missense variant	-	NC_000002.12:g.74472642G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs150499635	p.Arg7Gly	missense variant	-	NC_000002.12:g.74472642G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs535547076	p.Leu8Val	missense variant	-	NC_000002.12:g.74472639G>C	1000Genomes,ExAC,gnomAD
rs535547076	p.Leu8Phe	missense variant	-	NC_000002.12:g.74472639G>A	1000Genomes,ExAC,gnomAD
rs111410167	p.Gly9Cys	missense variant	-	NC_000002.12:g.74472636C>A	ExAC,gnomAD
rs111410167	p.Gly9Arg	missense variant	-	NC_000002.12:g.74472636C>G	ExAC,gnomAD
rs772960887	p.Gly9Val	missense variant	-	NC_000002.12:g.74472635C>A	ExAC,gnomAD
rs142063944	p.Leu10Pro	missense variant	-	NC_000002.12:g.74472632A>G	ESP,ExAC,TOPMed,gnomAD
rs142063944	p.Leu10Gln	missense variant	-	NC_000002.12:g.74472632A>T	ESP,ExAC,TOPMed,gnomAD
rs747987917	p.Leu10Val	missense variant	-	NC_000002.12:g.74472633G>C	ExAC,gnomAD
rs1305979650	p.Arg11Leu	missense variant	-	NC_000002.12:g.74472629C>A	gnomAD
rs957046184	p.Arg11Trp	missense variant	-	NC_000002.12:g.74472630G>A	TOPMed
rs968380682	p.Pro12His	missense variant	-	NC_000002.12:g.74472626G>T	TOPMed,gnomAD
rs968380682	p.Pro12Leu	missense variant	-	NC_000002.12:g.74472626G>A	TOPMed,gnomAD
rs968380682	p.Pro12Arg	missense variant	-	NC_000002.12:g.74472626G>C	TOPMed,gnomAD
NCI-TCGA novel	p.Val13Ala	missense variant	-	NC_000002.12:g.74472623A>G	NCI-TCGA
rs183536546	p.Lys14Asn	missense variant	-	NC_000002.12:g.74472619T>A	1000Genomes,ExAC,TOPMed,gnomAD
rs991151472	p.Gln15Pro	missense variant	-	NC_000002.12:g.74472617T>G	TOPMed
rs747196565	p.Gln15Ter	stop gained	-	NC_000002.12:g.74472618G>A	ExAC,TOPMed,gnomAD
rs747196565	p.Gln15Glu	missense variant	-	NC_000002.12:g.74472618G>C	ExAC,TOPMed,gnomAD
rs778079553	p.Val16Leu	missense variant	-	NC_000002.12:g.74472615C>G	ExAC,gnomAD
rs758633639	p.Arg17Trp	missense variant	-	NC_000002.12:g.74472612G>A	ExAC,TOPMed,gnomAD
rs765591182	p.Val18Phe	missense variant	-	NC_000002.12:g.74472609C>A	ExAC,gnomAD
rs755468918	p.Val18Gly	missense variant	-	NC_000002.12:g.74472608A>C	ExAC,gnomAD
rs765847354	p.Gln19His	missense variant	-	NC_000002.12:g.74472604C>A	ExAC,gnomAD
rs754394582	p.Gln19Arg	missense variant	-	NC_000002.12:g.74472605T>C	ExAC,TOPMed,gnomAD
rs760197888	p.Phe20Tyr	missense variant	-	NC_000002.12:g.74472602A>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Phe20Leu	missense variant	-	NC_000002.12:g.74472601G>T	NCI-TCGA
NCI-TCGA novel	p.Cys21Ser	missense variant	-	NC_000002.12:g.74472600A>T	NCI-TCGA
rs749982181	p.Phe23Leu	missense variant	-	NC_000002.12:g.74472594A>G	ExAC,gnomAD
rs749982181	p.Phe23Val	missense variant	-	NC_000002.12:g.74472594A>C	ExAC,gnomAD
rs1485933952	p.Glu24Lys	missense variant	-	NC_000002.12:g.74472591C>T	gnomAD
rs1259760843	p.Glu24Asp	missense variant	-	NC_000002.12:g.74472589C>G	gnomAD
COSM443227	p.Glu24Gln	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.74472591C>G	NCI-TCGA Cosmic
NCI-TCGA novel	p.Glu24Asp	missense variant	-	NC_000002.12:g.74472589C>A	NCI-TCGA
rs141704877	p.Lys25Glu	missense variant	-	NC_000002.12:g.74472588T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs761435493	p.Asn26Asp	missense variant	-	NC_000002.12:g.74472585T>C	ExAC,gnomAD
NCI-TCGA novel	p.Asn26LysPheSerTerUnkUnk	frameshift	-	NC_000002.12:g.74472583_74472584insC	NCI-TCGA
COSM3799192	p.Val27Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.74472582C>G	NCI-TCGA Cosmic
rs1303884689	p.Glu28Ala	missense variant	-	NC_000002.12:g.74472578T>G	gnomAD
COSM2999605	p.Glu28Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.74472579C>T	NCI-TCGA Cosmic
rs768620975	p.Thr30Lys	missense variant	-	NC_000002.12:g.74472572G>T	ExAC,gnomAD
rs768620975	p.Thr30Met	missense variant	-	NC_000002.12:g.74472572G>A	ExAC,gnomAD
rs1407856775	p.Arg31Lys	missense variant	-	NC_000002.12:g.74472569C>T	TOPMed
rs1475924365	p.Arg31Ser	missense variant	-	NC_000002.12:g.74472470C>G	gnomAD
rs78834087	p.Thr32Asn	missense variant	-	NC_000002.12:g.74472468G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1186851817	p.Phe33Ser	missense variant	-	NC_000002.12:g.74472465A>G	gnomAD
rs200063050	p.Phe33Leu	missense variant	-	NC_000002.12:g.74472464G>C	1000Genomes,ExAC,TOPMed,gnomAD
rs373576604	p.Leu34Arg	missense variant	-	NC_000002.12:g.74472462A>C	ESP,ExAC,TOPMed,gnomAD
rs779139769	p.Gln35Ter	stop gained	-	NC_000002.12:g.74472460G>A	ExAC,gnomAD
rs1307432311	p.Gln35Arg	missense variant	-	NC_000002.12:g.74472459T>C	gnomAD
rs148007344	p.Thr36Ala	missense variant	-	NC_000002.12:g.74472457T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs749654917	p.Thr36Met	missense variant	-	NC_000002.12:g.74472456G>A	ExAC,TOPMed,gnomAD
rs780460509	p.Ser39Ile	missense variant	-	NC_000002.12:g.74472447C>A	ExAC,TOPMed,gnomAD
rs780460509	p.Ser39Asn	missense variant	-	NC_000002.12:g.74472447C>T	ExAC,TOPMed,gnomAD
rs1431313097	p.Glu40Asp	missense variant	-	NC_000002.12:g.74472443C>G	TOPMed
rs1431313097	p.Glu40Asp	missense variant	-	NC_000002.12:g.74472443C>A	TOPMed
rs1414469378	p.Glu40Gln	missense variant	-	NC_000002.12:g.74472445C>G	gnomAD
rs756595580	p.Lys41Asn	missense variant	-	NC_000002.12:g.74472440C>G	ExAC,gnomAD
rs1400305026	p.Lys41Glu	missense variant	-	NC_000002.12:g.74472442T>C	gnomAD
rs746411133	p.Val42Ile	missense variant	-	NC_000002.12:g.74472439C>T	ExAC,TOPMed,gnomAD
rs1158082601	p.Val42Gly	missense variant	-	NC_000002.12:g.74472438A>C	TOPMed
rs746411133	p.Val42Phe	missense variant	-	NC_000002.12:g.74472439C>A	ExAC,TOPMed,gnomAD
rs780721569	p.Arg43Gly	missense variant	-	NC_000002.12:g.74472436G>C	ExAC,TOPMed,gnomAD
rs780721569	p.Arg43Cys	missense variant	-	NC_000002.12:g.74472436G>A	ExAC,TOPMed,gnomAD
rs553484653	p.Ser44Phe	missense variant	-	NC_000002.12:g.74472432G>A	ExAC,TOPMed,gnomAD
rs751976686	p.Thr45Ser	missense variant	-	NC_000002.12:g.74472430T>A	TOPMed,gnomAD
rs1386840178	p.Thr45Asn	missense variant	-	NC_000002.12:g.74472429G>T	TOPMed
rs751976686	p.Thr45Ala	missense variant	-	NC_000002.12:g.74472430T>C	TOPMed,gnomAD
rs1462546231	p.Asn46Asp	missense variant	-	NC_000002.12:g.74472427T>C	gnomAD
NCI-TCGA novel	p.Asn46ThrPheSerTerUnkUnk	frameshift	-	NC_000002.12:g.74472425_74472426AT>-	NCI-TCGA
rs751173436	p.Asn48Ser	missense variant	-	NC_000002.12:g.74472420T>C	ExAC,TOPMed,gnomAD
COSM1409584	p.Cys49Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.74472417C>A	NCI-TCGA Cosmic
rs763855401	p.Ser50Pro	missense variant	-	NC_000002.12:g.74472415A>G	ExAC,gnomAD
rs148457004	p.Ile52Met	missense variant	-	NC_000002.12:g.74472407A>C	ESP,ExAC,gnomAD
rs1317760857	p.Arg56Lys	missense variant	-	NC_000002.12:g.74472396C>T	TOPMed
NCI-TCGA novel	p.Arg56Ser	missense variant	-	NC_000002.12:g.74472395C>G	NCI-TCGA
rs767597639	p.Asp58Glu	missense variant	-	NC_000002.12:g.74472389G>C	ExAC,TOPMed,gnomAD
rs114954370	p.Asp58Tyr	missense variant	-	NC_000002.12:g.74472391C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs776477681	p.Asp58Gly	missense variant	-	NC_000002.12:g.74472390T>C	ExAC,gnomAD
rs771006399	p.Gly59Ser	missense variant	-	NC_000002.12:g.74472388C>T	ExAC,TOPMed,gnomAD
rs771006399	p.Gly59Arg	missense variant	-	NC_000002.12:g.74472388C>G	ExAC,TOPMed,gnomAD
rs1187269862	p.Ser60Phe	missense variant	-	NC_000002.12:g.74472384G>A	TOPMed,gnomAD
rs1354535630	p.Ser60Pro	missense variant	-	NC_000002.12:g.74472385A>G	gnomAD
rs1240177821	p.Glu61Asp	missense variant	-	NC_000002.12:g.74472380C>G	gnomAD
rs1420639045	p.Pro62Ser	missense variant	-	NC_000002.12:g.74472379G>A	TOPMed
rs150665596	p.Cys63Ser	missense variant	-	NC_000002.12:g.74472375C>G	ESP,ExAC,TOPMed,gnomAD
rs150665596	p.Cys63Tyr	missense variant	-	NC_000002.12:g.74472375C>T	ESP,ExAC,TOPMed,gnomAD
rs746344630	p.Val66Met	missense variant	-	NC_000002.12:g.74472367C>T	ExAC,TOPMed,gnomAD
rs1164880190	p.Leu67Pro	missense variant	-	NC_000002.12:g.74472363A>G	TOPMed
rs1409668038	p.Gly69Arg	missense variant	-	NC_000002.12:g.74472358C>T	gnomAD
rs746229425	p.Gly69Val	missense variant	-	NC_000002.12:g.74472252C>A	ExAC,gnomAD
rs377509724	p.Gly71Arg	missense variant	-	NC_000002.12:g.74472247C>G	ESP,gnomAD
rs202083153	p.Arg73Cys	missense variant	-	NC_000002.12:g.74472241G>A	TOPMed,gnomAD
rs747766347	p.Ile75Thr	missense variant	-	NC_000002.12:g.74472234A>G	ExAC,gnomAD
rs1374693627	p.Ile75Met	missense variant	-	NC_000002.12:g.74472233A>C	TOPMed,gnomAD
rs771752993	p.Ile75Leu	missense variant	-	NC_000002.12:g.74472235T>G	ExAC,gnomAD
rs1355606615	p.Met76Arg	missense variant	-	NC_000002.12:g.74472231A>C	TOPMed
rs868535628	p.Arg77Cys	missense variant	-	NC_000002.12:g.74472229G>A	TOPMed
rs1421673367	p.Leu81Arg	missense variant	-	NC_000002.12:g.74472216A>C	gnomAD
rs1477557979	p.Thr82Asn	missense variant	-	NC_000002.12:g.74472213G>T	TOPMed,gnomAD
rs1187213783	p.Thr82Ala	missense variant	-	NC_000002.12:g.74472214T>C	gnomAD
rs1190409843	p.Ala83Thr	missense variant	-	NC_000002.12:g.74472211C>T	gnomAD
rs1237275435	p.Met86Val	missense variant	-	NC_000002.12:g.74472202T>C	gnomAD
rs1208570176	p.Met86Ile	missense variant	-	NC_000002.12:g.74472200C>A	gnomAD
rs925154921	p.Ser92Phe	missense variant	-	NC_000002.12:g.74472183G>A	TOPMed,gnomAD
rs574615587	p.Ser92Pro	missense variant	-	NC_000002.12:g.74472184A>G	1000Genomes,ExAC,TOPMed,gnomAD
rs750396824	p.Ile94Thr	missense variant	-	NC_000002.12:g.74472177A>G	ExAC,gnomAD
rs764118872	p.Arg95Pro	missense variant	-	NC_000002.12:g.74472174C>G	ExAC
rs763042946	p.Arg97Gly	missense variant	-	NC_000002.12:g.74472169T>C	ExAC,TOPMed,gnomAD
rs752856417	p.Asp98Glu	missense variant	-	NC_000002.12:g.74472164G>C	ExAC,gnomAD
rs999211261	p.Ala99Val	missense variant	-	NC_000002.12:g.74472162G>A	TOPMed
rs11554617	p.Ala100Val	missense variant	-	NC_000002.12:g.74472159G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs776847633	p.Gly101Ala	missense variant	-	NC_000002.12:g.74472156C>G	ExAC,gnomAD
rs375317196	p.Gly101Cys	missense variant	-	NC_000002.12:g.74472157C>A	ESP,ExAC,TOPMed,gnomAD
rs776847633	p.Gly101Asp	missense variant	-	NC_000002.12:g.74472156C>T	ExAC,gnomAD
rs769782494	p.Ser102Arg	missense variant	-	NC_000002.12:g.74472154T>G	gnomAD
rs1421664112	p.Gly103Glu	missense variant	-	NC_000002.12:g.74472150C>T	TOPMed,gnomAD
rs761235979	p.Pro106Ser	missense variant	-	NC_000002.12:g.74472142G>A	ExAC,TOPMed,gnomAD
rs761235979	p.Pro106Thr	missense variant	-	NC_000002.12:g.74472142G>T	ExAC,TOPMed,gnomAD
rs773890839	p.Pro106Leu	missense variant	-	NC_000002.12:g.74472141G>A	ExAC,TOPMed,gnomAD
rs760626014	p.Gly107Asp	missense variant	-	NC_000002.12:g.74472138C>T	TOPMed,gnomAD
rs778549382	p.Asp109Val	missense variant	-	NC_000002.12:g.74472132T>A	ExAC,gnomAD
rs541034466	p.Thr110Ala	missense variant	-	NC_000002.12:g.74472130T>C	1000Genomes
rs994442221	p.Arg112Pro	missense variant	-	NC_000002.12:g.74472123C>G	TOPMed
rs749014275	p.Arg112Cys	missense variant	-	NC_000002.12:g.74472124G>A	ExAC,TOPMed,gnomAD
rs779678862	p.Ter113Leu	stop lost	-	NC_000002.12:g.74472120C>A	ExAC,gnomAD

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID	GO Term	Evidence
GO:0005515	protein binding	IPI

GO:Biological Process

GO ID	GO Term	Evidence
GO:0070125	mitochondrial translational elongation	TAS
GO:0070126	mitochondrial translational termination	TAS

GO:Cellular Component

GO ID	GO Term	Evidence
GO:0005739	mitochondrion	IDA
GO:0005743	mitochondrial inner membrane	TAS
GO:0005762	mitochondrial large ribosomal subunit	IDA

Reactome Pathway

Reactome ID	Reactome Term	Evidence
R-HSA-392499	Metabolism of proteins	TAS
R-HSA-392499	Metabolism of proteins	IEA
R-HSA-5368286	Mitochondrial translation initiation	IEA
R-HSA-5368287	Mitochondrial translation	TAS
R-HSA-5368287	Mitochondrial translation	IEA
R-HSA-5389840	Mitochondrial translation elongation	IEA
R-HSA-5389840	Mitochondrial translation elongation	TAS
R-HSA-5419276	Mitochondrial translation termination	TAS
R-HSA-72766	Translation	TAS
R-HSA-72766	Translation	IEA

Drugs and compounds information

ID	Drug Name	Action	PubMed
C070055	2,3',4,4',5-pentachlorobiphenyl	2,3',4,4',5-pentachlorobiphenyl results in increased expression of MRPL53 mRNA	31388691
C009505	4,4'-diaminodiphenylmethane	4,4'-diaminodiphenylmethane results in decreased expression of MRPL53 mRNA	18648102
D000082	Acetaminophen	[Acetaminophen co-treated with Lipopolysaccharides] results in decreased expression of MRPL53 mRNA	31059760
D000082	Acetaminophen	Acetaminophen results in decreased expression of MRPL53 mRNA	31059760
D000082	Acetaminophen	Acetaminophen affects the expression of MRPL53 mRNA	17562736
D000082	Acetaminophen	[Clofibrate co-treated with Acetaminophen] affects the expression of MRPL53 mRNA	17585979
D000082	Acetaminophen	PPARA affects the reaction [[Clofibrate co-treated with Acetaminophen] affects the expression of MRPL53 mRNA]	17585979
D016604	Aflatoxin B1	Aflatoxin B1 results in increased methylation of MRPL53 gene	27153756
D017638	Asbestos, Crocidolite	Asbestos, Crocidolite results in increased expression of MRPL53 mRNA	29523930
D001564	Benzo(a)pyrene	Benzo(a)pyrene results in decreased expression of MRPL53 mRNA	20504355
C006780	bisphenol A	bisphenol A results in increased expression of MRPL53 mRNA	30248606
C006780	bisphenol A	bisphenol A results in increased expression of MRPL53 mRNA	25181051
D020111	Chlorodiphenyl (54% Chlorine)	Chlorodiphenyl (54% Chlorine) results in increased expression of MRPL53 mRNA	23650126
D002794	Choline	[Methionine deficiency co-treated with Choline deficiency co-treated with Folic Acid deficiency] results in increased methylation of MRPL53 gene	20938992
C074702	chromium hexavalent ion	chromium hexavalent ion affects the expression of MRPL53 mRNA	28472532
D002994	Clofibrate	[Clofibrate co-treated with Acetaminophen] affects the expression of MRPL53 mRNA	17585979
D002994	Clofibrate	Clofibrate results in decreased expression of MRPL53 mRNA	17585979
D002994	Clofibrate	PPARA affects the reaction [[Clofibrate co-treated with Acetaminophen] affects the expression of MRPL53 mRNA]	17585979
D004997	Ethinyl Estradiol	Ethinyl Estradiol results in increased expression of MRPL53 mRNA	17942748
D004997	Ethinyl Estradiol	[Tetrachlorodibenzodioxin co-treated with Ethinyl Estradiol] results in increased expression of MRPL53 mRNA	17942748
D018120	Finasteride	Finasteride results in increased expression of MRPL53 mRNA	24136188
D005485	Flutamide	Flutamide results in increased expression of MRPL53 mRNA	24136188
D005492	Folic Acid	[Methionine deficiency co-treated with Choline deficiency co-treated with Folic Acid deficiency] results in increased methylation of MRPL53 gene	20938992
D006830	Hydralazine	[Hydralazine co-treated with Valproic Acid] results in increased expression of MRPL53 mRNA	17183730
D006861	Hydrogen Peroxide	Hydrogen Peroxide affects the expression of MRPL53 mRNA	21179406
D007213	Indomethacin	Indomethacin results in increased expression of MRPL53 mRNA	28201806
D007657	Ketone Bodies	Ketone Bodies results in increased expression of MRPL53 mRNA	16807920
D008070	Lipopolysaccharides	[Acetaminophen co-treated with Lipopolysaccharides] results in decreased expression of MRPL53 mRNA	31059760
D008094	Lithium	Lithium inhibits the reaction [Methamphetamine results in increased expression of MRPL53 mRNA]	19149911
D008694	Methamphetamine	Lithium inhibits the reaction [Methamphetamine results in increased expression of MRPL53 mRNA]	19149911
D008694	Methamphetamine	Methamphetamine results in increased expression of MRPL53 mRNA	19149911
D008715	Methionine	[Methionine deficiency co-treated with Choline deficiency co-treated with Folic Acid deficiency] results in increased methylation of MRPL53 gene	20938992
C012655	nimesulide	nimesulide results in increased expression of MRPL53 mRNA	24136188
D000077154	Rosiglitazone	Rosiglitazone affects the expression of MRPL53 mRNA	22013433
C017947	sodium arsenite	sodium arsenite results in increased expression of MRPL53 mRNA	29361514
D013467	Sulindac	Sulindac results in increased expression of MRPL53 mRNA	24136188
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin affects the expression of MRPL53 mRNA	21570461
D013749	Tetrachlorodibenzodioxin	[Tetrachlorodibenzodioxin co-treated with Ethinyl Estradiol] results in increased expression of MRPL53 mRNA	17942748
D013749	Tetrachlorodibenzodioxin	AHR protein alternative form affects the reaction [Tetrachlorodibenzodioxin results in decreased expression of MRPL53 mRNA]	21215274
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin results in decreased expression of MRPL53 mRNA	21215274
D000077867	Tolcapone	Tolcapone results in decreased expression of MRPL53 mRNA	24136188
D014050	Toluene	Toluene results in decreased expression of MRPL53 mRNA	22967744
C012589	trichostatin A	trichostatin A results in increased expression of MRPL53 mRNA	15901671
D014635	Valproic Acid	[Hydralazine co-treated with Valproic Acid] results in increased expression of MRPL53 mRNA	17183730
D014635	Valproic Acid	Valproic Acid affects the expression of MRPL53 mRNA	25979313
D014635	Valproic Acid	Valproic Acid results in increased expression of MRPL53 mRNA	15901671

Functional annotations

Keywords

Keyword ID	Keyword Term
KW-0002	3D-structure
KW-0496	Mitochondrion
KW-0621	Polymorphism
KW-1185	Reference proteome
KW-0687	Ribonucleoprotein
KW-0689	Ribosomal protein
KW-0809	Transit peptide

Interpro

InterPro ID	InterPro Term
IPR019716	Ribosomal_L53_mit
IPR036249	Thioredoxin-like_sf

PROSITE

PROSITE ID	PROSITE Term

Pfam

Pfam ID	Pfam Term
PF10780	MRP_L53

Gene: MRPL53

Basic information

Gene expression information

Gene expression in different tissues (GTEx V7)

Gene expression in different tissues (ENCODE)

Protein structural annotations

3D structure in PDB database

Protein disorder information

Orthologous information

Identified variants/mutations related to cleft phenotype

Other genetic variants/mutations

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO:Biological Process

GO:Cellular Component

Reactome Pathway

Drugs and compounds information

Functional annotations

Keywords

Interpro

PROSITE

Pfam

Protein-protein interaction

Protein-miRNA interaction