MRPL49

Protein identityUniProt · HPA

UniProt accession

Q13405

Gene

MRPL49

Ensembl

ENSG00000149792

Chromosome

11

Canonical length

166 aa

Protein class

Plasma proteins, Predicted intracellular proteins, Ribosomal proteins

OverviewNCBI Gene

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% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. Pseudogenes corresponding to this gene are found on chromosomes 5q and 8p. [provided by RefSeq, May 2011]

Canonical amino-acid sequenceUniProt

166 residues, UniProt reviewed canonical sequence.

>Q13405|MRPL49
     1  MAATMFRATL RGWRTGVQRG CGLRLLSQTQ GPPDYPRFVE SVDEYQFVER LLPATRIPDP
    61  PKHEHYPTPS GWQPPRDPPP NLPYFVRRSR MHNIPVYKDI THGNRQMTVI RKVEGDIWAL
   121  QKDVEDFLSP LLGKTPVTQV NEVTGTLRIK GYFDQELKAW LLEKGF

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against MRPL49 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Intracellular

Secreted

No

Transmembrane segments

0

Mean surface accessibility (rSASA)

0.46

Highest tissue expression

83 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about MRPL49.

Disease | AllUniProt

Conditions MRPL49 is implicated in, by any mechanism.

• Combined oxidative phosphorylation deficiency 60 (COXPD60) MIM:621195

Disease | GeneticClinVar

7 pathogenic / likely-pathogenic of 48 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Combined oxidative phosphorylation deficiency 60
• Perrault syndrome 1
• Mitochondrial disease
• Combined oxidative phosphorylation defect type 2

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

1.5

gnomAD pLI

0

gnomAD missense Z

0.28

DepMap mean gene effect

-0.71

DepMap dependency class

common

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 6% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• mitochondrial translation

Molecular functions

• structural constituent of ribosome

Cellular components

• mitochondrial inner membrane
• mitochondrial large ribosomal subunit
• mitochondrial ribosome
• mitochondrion

Protein domainsUniProt · Pfam · InterPro

• Large ribosomal subunit protein mL49
• Mitochondrial large subunit ribosomal protein (Img2)

KeywordsUniProt

• Mitochondrion
• Primary mitochondrial disease
• Ribonucleoprotein
• Ribosomal protein

InteractionsUniProt · HPA

Protein binding partners of MRPL49 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• OXA1L
• MRPL13
• MRPL18
• MRPL27
• MRPL50
• MRPL52