Gene: Mrpl53

Basic information

Tag Content
Uniprot ID Q9D1H8
Entrez ID 68499
Genbank protein ID AAH65995.1; AAH22162.1; BAB22849.1;
Genbank nucleotide ID NM_026744.3
Ensembl protein ID ENSMUSP00000109571
Ensembl nucleotide ID ENSMUSG00000030037
Gene name 39S ribosomal protein L53, mitochondrial
Gene symbol Mrpl53
Organism Mus musculus
NCBI taxa ID 10090
Cleft type
Developmental stage
Data sources Homology search
Reference
Functional description
Sequence
MAAALARLGL RPVKLVRVQF CPFEKNVEST RTFLQTVSSE KVRATNLNCS VIADVRHDGS 60
EPCVDVLFGD GYRLIMRGAH LTTQEMLSAL ASHIRDRNAA AASAPGADKV APGTSTRR 118

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.

Protein structural annotations

3D structure in PDB database

There is no related protein structure for this gene.

Protein disorder information

Orthologous information

Relation Gene symbol Entrez ID UniProt ID Cleft type Developmental stage Species Evidence Details
1:1 orthologMRPL53505728Q2HJF1Bos taurusPredictionMore>>
1:1 orthologMRPL53116540Q96EL3Homo sapiensPublicationMore>>
1:1 orthologMrpl5368499Q9D1H8Mus musculusPredictionMore>>
1:1 orthologMRPL53459335H2QI65Pan troglodytesPredictionMore>>
1:1 orthologMRPL53G1T980Oryctolagus cuniculusPredictionMore>>
1:1 orthologMrpl53362388B2RYW4Rattus norvegicusPredictionMore>>
1:1 orthologmrpl53447915Q66I54Danio rerioPredictionMore>>

Identified variants/mutations related to cleft phenotype

Gene symbol Significant Variants/SNPS Methods PubMed ID
MRPL53rs6546909Genotyping for eQTL analysis29053389
MRPL53rs1063588;Genotyping for eQTL analysis29053389
MRPL53rs141704877Sanger sequencing29053389
MRPL53 rs78834087Sanger sequencing29053389
MRPL53rs148007344Sanger sequencing29053389
MRPL53rs139817903Sanger sequencing29053389
MRPL53rs1047911Sanger sequencing29053389

Other genetic variants/mutations

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Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID GO Term Evidence
GO:0003674 molecular_functionND

GO:Biological Process

GO ID GO Term Evidence
GO:0008150 biological_processND

GO:Cellular Component

GO ID GO Term Evidence
GO:0005739 mitochondrionISO
GO:0005739 mitochondrionHDA
GO:0005762 mitochondrial large ribosomal subunitISS
GO:0005762 mitochondrial large ribosomal subunitISO

Reactome Pathway

Reactome ID Reactome Term Evidence
R-MMU-392499 Metabolism of proteinsIEA
R-MMU-5368287 Mitochondrial translationIEA
R-MMU-5389840 Mitochondrial translation elongationIEA
R-MMU-5419276 Mitochondrial translation terminationIEA
R-MMU-72766 TranslationIEA

Functional annotations

Keywords

Keyword ID Keyword Term
KW-0496 Mitochondrion
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