MRPL44 mitochondrial ribosomal protein L44 [Homo sapiens (human)] - Gene

Summary

Official Symbol: MRPL44provided by HGNC
Official Full Name: mitochondrial ribosomal protein L44provided by HGNC
Primary source: HGNC:HGNC:16650
See related: Ensembl:ENSG00000135900 MIM:611849; AllianceGenome:HGNC:16650
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: mL44; L44MT; COXPD16; MRP-L44
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% 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. This gene encodes a 39S subunit protein. [provided by RefSeq, Jul 2008]
Expression: Ubiquitous expression in bone marrow (RPKM 7.0), lymph node (RPKM 6.9) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 2q36.1

Exon count:: 5

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	2	NC_000002.12 (223950854..223967714)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	2	NC_060926.1 (224434103..224450970)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	2	NC_000002.11 (224822180..224832431)

Chromosome 2 - NC_000002.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Pathogenic variants in MRPL44 cause infantile cardiomyopathy due to a mitochondrial translation defect.
Title: Pathogenic variants in MRPL44 cause infantile cardiomyopathy due to a mitochondrial translation defect.
MRPL44 expression may be a representative marker of metabolic phenotype according to OxPhos amount and a useful predictor of lymph node metastasis in Papillary thyroid carcinoma.
Title: A metabolic phenotype based on mitochondrial ribosomal protein expression as a predictor of lymph node metastasis in papillary thyroid carcinoma.
Decreased MRPL44 affected assembly of the large ribosomal subunit and stability of 16S rRNA leading to complex IV deficiency.
Title: Whole-exome sequencing identifies a mutation in the mitochondrial ribosome protein MRPL44 to underlie mitochondrial infantile cardiomyopathy.
Observational study of gene-disease association. (HuGE Navigator)
Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.

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Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency MedGen: C3809339 OMIM: 615395 GeneReviews: Not available	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Replication interactions

Interaction	Pubs
Knockdown of mitochondrial ribosomal protein L44 (MRPL44) by siRNA inhibits HIV-1 replication in HeLa P4/R5 cells	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D11S2921 (e-PCR)
- UniSTS:152074

NoName (e-PCR)
- UniSTS:9484

MRPL44_1828 (e-PCR)
- UniSTS:280854

SHGC-82778 (e-PCR)
- UniSTS:95766

D8S2279 (e-PCR)
- UniSTS:473907

SHGC-32172 (e-PCR)
- UniSTS:21821

D2S431 (e-PCR)
- UniSTS:5194

L18426 (e-PCR)
- UniSTS:34648

RH102801 (e-PCR)
- UniSTS:97135

D1S1425 (e-PCR)
- UniSTS:149621

G35510 (e-PCR)
- UniSTS:44150

RH102838 (e-PCR)
- UniSTS:97172

RH12342 (e-PCR)
- UniSTS:40900

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables RNA binding	HDA more info	PubMed
enables double-stranded RNA binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
NOT enables ribonuclease III activity	IKR Inferred from Key Residues more info	PubMed

Process	Evidence Code	Pubs
involved_in RNA processing	IEA Inferred from Electronic Annotation more info
involved_in mitochondrial translation	NAS Non-traceable Author Statement more info	PubMed
involved_in mitochondrial translational elongation	IBA Inferred from Biological aspect of Ancestor more info
involved_in mitochondrial translational elongation	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in mitochondrial inner membrane	NAS Non-traceable Author Statement more info	PubMed
located_in mitochondrial inner membrane	TAS Traceable Author Statement more info
part_of mitochondrial large ribosomal subunit	IBA Inferred from Biological aspect of Ancestor more info
part_of mitochondrial large ribosomal subunit	IDA Inferred from Direct Assay more info	PubMed
part_of mitochondrial large ribosomal subunit	NAS Non-traceable Author Statement more info	PubMed
located_in mitochondrion	HTP more info	PubMed
located_in mitochondrion	IDA Inferred from Direct Assay more info	PubMed
located_in nuclear body	IDA Inferred from Direct Assay more info
located_in nucleoplasm	IDA Inferred from Direct Assay more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	IDA Inferred from Direct Assay more info

General protein information

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Preferred Names: large ribosomal subunit protein mL44

Names: 39S ribosomal protein L44, mitochondrial; mitochondrial large ribosomal subunit protein mL44

NP_075066.1

EC 3.1.26.-

XP_011509970.1

EC 3.1.26.-

XP_054199444.1

EC 3.1.26.-

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_050679.2 RefSeqGene

Range

11611..21862

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_022915.5 → NP_075066.1 large ribosomal subunit protein mL44

See identical proteins and their annotated locations for NP_075066.1

Status: REVIEWED

Source sequence(s)

AC073641

Consensus CDS

CCDS2459.1

UniProtKB/Swiss-Prot

Q53S16, Q6IA62, Q9H821, Q9H9J2

Related

ENSP00000258383.3, ENST00000258383.4

Conserved Domains (2) summary

cd19874
Location:225 → 307

DSRM_MRPL44; double-stranded RNA binding motif of mitochondrial 39S ribosomal protein L44 (MRPL44) and similar proteins

cl00258
Location:117 → 222

RIBOc; Ribonuclease III C terminal domain. This group consists of eukaryotic, bacterial and archeal ribonuclease III (RNAse III) proteins. RNAse III is a double stranded RNA-specific endonuclease. Prokaryotic RNAse III is important in post-transcriptional ...

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000002.12 Reference GRCh38.p14 Primary Assembly

Range

223950854..223967714

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011511668.3 → XP_011509970.1 large ribosomal subunit protein mL44 isoform X1

Conserved Domains (2) summary

pfam00636
Location:115 → 193

Ribonuclease_3; Ribonuclease III domain

cl00054
Location:222 → 290

DSRM; Double-stranded RNA binding motif. Binding is not sequence specific but is highly specific for double stranded RNA. Found in a variety of proteins including dsRNA dependent protein kinase PKR, RNA helicases, Drosophila staufen protein, E. coli RNase III, ...