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... See more...

Aliases for MRPL44 Gene

Aliases for MRPL44 Gene

  • Mitochondrial Ribosomal Protein L44 2 3 5
  • 39S Ribosomal Protein L44, Mitochondrial 2 3 4
  • Mitochondrial Large Ribosomal Subunit Protein ML44 3 4
  • MRP-L44 3 4
  • EC 3.1.26.- 4
  • EC 3.1.26 54
  • COXPD16 3
  • L44MT 3
  • L44mt 4

External Ids for MRPL44 Gene

Previous GeneCards Identifiers for MRPL44 Gene

  • GC02P222844
  • GC02P223543
  • GC02P224786
  • GC02P225024
  • GC02P224647
  • GC02P224530
  • GC02P216673
  • GC02P224822

Summaries for MRPL44 Gene

Entrez Gene Summary for MRPL44 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. This gene encodes a 39S subunit protein. [provided by RefSeq, Jul 2008]

GeneCards Summary for MRPL44 Gene

MRPL44 (Mitochondrial Ribosomal Protein L44) is a Protein Coding gene. Diseases associated with MRPL44 include Combined Oxidative Phosphorylation Deficiency 16 and Combined Oxidative Phosphorylation Deficiency 1. Among its related pathways are Mitochondrial translation and Organelle biogenesis and maintenance. Gene Ontology (GO) annotations related to this gene include ribonuclease III activity.

UniProtKB/Swiss-Prot Summary for MRPL44 Gene

  • Component of the 39S subunit of mitochondrial ribosome. May have a function in the assembly/stability of nascent mitochondrial polypeptides exiting the ribosome.

Additional gene information for MRPL44 Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for MRPL44 Gene

Genomics for MRPL44 Gene

GeneHancer (GH) Regulatory Elements for MRPL44 Gene

Promoters and enhancers for MRPL44 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH02J223956 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas 757.9 +7.2 7155 3.9 SIN3A ZNF24 SP1 ZBTB40 SIX5 ZBTB6 FOXA1 MLX SMARCE1 RBPJ MRPL44 lnc-WDFY1-4 piR-41482 WDFY1 ENSG00000228446 SCG2
GH02J223950 Enhancer 0.8 Ensembl ENCODE 757.7 -0.6 -589 6.2 L3MBTL2 POLR2A ZIC2 CEBPA PKNOX1 EZH2 SCRT2 MGA RUNX3 ZBTB17 MRPL44 WDFY1 lnc-MRPL44-2
GH02J223893 Promoter/Enhancer 1.6 FANTOM5 Ensembl ENCODE dbSUPER 15.7 -54.9 -54923 4.8 ZNF24 SP1 ZNF362 JUND ETV6 RELA MLLT1 SP7 ZSCAN21 ZNF687 WDFY1 MRPL44 lnc-AP1S3-2 lnc-WDFY1-1 ENSG00000286239
GH02J223858 Enhancer 1 Ensembl ENCODE 18.3 -90.1 -90061 3.7 CTCF LCORL MLX CREB1 HLF RAD21 ZNF652 RERE MAFK CEBPG MRPL44 AP1S3 lnc-MRPL44-3 lnc-WDFY1-1 WDFY1 ENSG00000286239
GH02J223942 Promoter/Enhancer 2.4 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 7.1 -6.4 -6388 3.4 SP1 ZBTB40 SREBF1 MLX RBPJ POLR2A USF2 MIXL1 MYC NFYC WDFY1 ENSG00000286239 ENSG00000228446 AP1S3 MRPL44 RF00994-559
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around MRPL44 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the MRPL44 gene promoter:
  • AP-1
  • c-Fos
  • c-Jun
  • c-Myb
  • CUTL1
  • GATA-1
  • HNF-4alpha1
  • Ik-1
  • NRF-2
  • ZID

Genomic Locations for MRPL44 Gene

Genomic Locations for MRPL44 Gene
chr2:223,950,890-223,967,714
(GRCh38/hg38)
Size:
16,825 bases
Orientation:
Plus strand
chr2:224,822,121-224,832,431
(GRCh37/hg19)
Size:
10,311 bases
Orientation:
Plus strand

Genomic View for MRPL44 Gene

Genes around MRPL44 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MRPL44 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MRPL44 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MRPL44 Gene

Proteins for MRPL44 Gene

  • Protein details for MRPL44 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9H9J2-RM44_HUMAN
    Recommended name:
    39S ribosomal protein L44, mitochondrial
    Protein Accession:
    Q9H9J2
    Secondary Accessions:
    • Q53S16
    • Q6IA62
    • Q9H821

    Protein attributes for MRPL44 Gene

    Size:
    332 amino acids
    Molecular mass:
    37535 Da
    Quaternary structure:
    • Component of the mitochondrial large ribosomal subunit (mt-LSU) (PubMed:28892042, PubMed:25838379, PubMed:25278503). Mature mammalian 55S mitochondrial ribosomes consist of a small (28S) and a large (39S) subunit. The 28S small subunit contains a 12S ribosomal RNA (12S mt-rRNA) and 30 different proteins. The 39S large subunit contains a 16S rRNA (16S mt-rRNA), a copy of mitochondrial valine transfer RNA (mt-tRNA(Val)), which plays an integral structural role, and 52 different proteins.

    Three dimensional structures from OCA and Proteopedia for MRPL44 Gene

neXtProt entry for MRPL44 Gene

Selected DME Specific Peptides for MRPL44 Gene

Q9H9J2:
  • LFIRDFLITQMTGKELFE
  • NSCYIKSEEAKRQ

Post-translational modifications for MRPL44 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for MRPL44 Gene

ENSEMBL proteins:
REFSEQ proteins:

Domains & Families for MRPL44 Gene

Gene Families for MRPL44 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins
  • Ribosomal proteins

Protein Domains for MRPL44 Gene

Suggested Antigen Peptide Sequences for MRPL44 Gene

GenScript: Design optimal peptide antigens:
  • 39S ribosomal protein L44, mitochondrial (RM44_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9H9J2

UniProtKB/Swiss-Prot:

RM44_HUMAN :
  • Belongs to the ribonuclease III family. Mitochondrion-specific ribosomal protein mL44 subfamily.
Family:
  • Belongs to the ribonuclease III family. Mitochondrion-specific ribosomal protein mL44 subfamily.
genes like me logo Genes that share domains with MRPL44: view

Function for MRPL44 Gene

Molecular function for MRPL44 Gene

UniProtKB/Swiss-Prot Function:
Component of the 39S subunit of mitochondrial ribosome. May have a function in the assembly/stability of nascent mitochondrial polypeptides exiting the ribosome.

Enzyme Numbers (IUBMB) for MRPL44 Gene

Phenotypes From GWAS Catalog for MRPL44 Gene

Gene Ontology (GO) - Molecular Function for MRPL44 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003723 RNA binding HDA 22681889
GO:0003725 double-stranded RNA binding IBA 21873635
GO:0004518 nuclease activity IEA --
GO:0004519 endonuclease activity IEA --
GO:0004525 ribonuclease III activity IBA 21873635
genes like me logo Genes that share ontologies with MRPL44: view
genes like me logo Genes that share phenotypes with MRPL44: view

Human Phenotype Ontology for MRPL44 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

miRNA for MRPL44 Gene

miRTarBase miRNAs that target MRPL44

Clone Products

No data available for Animal Models , Transcription Factor Targets and HOMER Transcription for MRPL44 Gene

Localization for MRPL44 Gene

Subcellular locations from UniProtKB/Swiss-Prot for MRPL44 Gene

Mitochondrion.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for MRPL44 gene
Compartment Confidence
mitochondrion 5
plasma membrane 4
nucleus 4

Subcellular locations from the

Human Protein Atlas (HPA)
  • Mitochondria (3)
  • Nucleus (2)
  • Plasma membrane (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for MRPL44 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IBA,IDA --
GO:0005739 mitochondrion IEA,IDA 28892042
GO:0005743 mitochondrial inner membrane TAS --
GO:0005762 mitochondrial large ribosomal subunit IDA 25278503
GO:0005840 ribosome IEA --
genes like me logo Genes that share ontologies with MRPL44: view

Pathways & Interactions for MRPL44 Gene

genes like me logo Genes that share pathways with MRPL44: view

Gene Ontology (GO) - Biological Process for MRPL44 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006396 RNA processing IBA 21873635
GO:0030422 production of siRNA involved in RNA interference IBA 21873635
GO:0031053 primary miRNA processing IBA 21873635
GO:0031054 pre-miRNA processing IBA 21873635
GO:0070125 mitochondrial translational elongation TAS --
genes like me logo Genes that share ontologies with MRPL44: view

No data available for SIGNOR curated interactions for MRPL44 Gene

Drugs & Compounds for MRPL44 Gene

No Compound Related Data Available

Transcripts for MRPL44 Gene

mRNA/cDNA for MRPL44 Gene

(1) REFSEQ mRNAs :
(10) Additional mRNA sequences :
(178) Selected AceView cDNA sequences:
(1) Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for MRPL44 Gene

No ASD Table

Relevant External Links for MRPL44 Gene

GeneLoc Exon Structure for
MRPL44
ECgene alternative splicing isoforms for
MRPL44

Expression for MRPL44 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for MRPL44 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for MRPL44 Gene

This gene is overexpressed in Lung (18.0) and Breast (15.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for MRPL44 Gene



Protein tissue co-expression partners for MRPL44 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of MRPL44 Gene:

MRPL44

SOURCE GeneReport for Unigene cluster for MRPL44 Gene:

Hs.203559

Evidence on tissue expression from TISSUES for MRPL44 Gene

  • Liver(4.2)
  • Nervous system(3.5)

Phenotype-based relationships between genes and organs from Gene ORGANizer for MRPL44 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • nervous
Regions:
Head and neck:
  • brain
  • ear
  • head
Thorax:
  • heart
  • heart valve
Abdomen:
  • liver
genes like me logo Genes that share expression patterns with MRPL44: view

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for MRPL44 Gene

Orthologs for MRPL44 Gene

This gene was present in the common ancestor of animals.

Orthologs for MRPL44 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia MRPL44 33 32
  • 99.3 (n)
OneToOne
dog
(Canis familiaris)
Mammalia MRPL44 33 32
  • 89.66 (n)
OneToOne
cow
(Bos Taurus)
Mammalia MRPL44 33 32
  • 87.25 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Mrpl44 17 33 32
  • 81.93 (n)
rat
(Rattus norvegicus)
Mammalia Mrpl44 32
  • 81.83 (n)
oppossum
(Monodelphis domestica)
Mammalia MRPL44 33
  • 78 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia MRPL44 33
  • 69 (a)
OneToOne
chicken
(Gallus gallus)
Aves MRPL44 33 32
  • 65.02 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia MRPL44 33
  • 68 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia mrpl44 32
  • 59.51 (n)
Str.5690 32
African clawed frog
(Xenopus laevis)
Amphibia MGC64346 32
zebrafish
(Danio rerio)
Actinopterygii mrpl44 33 32
  • 59.89 (n)
OneToOne
Dr.2483 32
fruit fly
(Drosophila melanogaster)
Insecta mRpL44 33 34 32
  • 46.44 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP001898 32
  • 43.47 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.8292 33
  • 33 (a)
OneToOne
Species where no ortholog for MRPL44 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for MRPL44 Gene

ENSEMBL:
Gene Tree for MRPL44 (if available)
TreeFam:
Gene Tree for MRPL44 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for MRPL44: view image

Paralogs for MRPL44 Gene

No data available for Paralogs for MRPL44 Gene

Variants for MRPL44 Gene

Sequence variations from dbSNP and Humsavar for MRPL44 Gene

SNP ID Clin Chr 02 pos Variation AA Info Type
rs11546405 benign, not specified, not provided 223,959,900(+) A/G coding_sequence_variant, synonymous_variant
rs11546406 benign, not specified, - 223,959,767(+) C/T coding_sequence_variant, missense_variant
rs141821599 not-provided, Combined oxidative phosphorylation deficiency 16 223,959,850(+) G/A/T coding_sequence_variant, missense_variant
rs143697995 likely-pathogenic, pathogenic, Combined oxidative phosphorylation deficiency 16, not provided, Combined oxidative phosphorylation deficiency 16 (COXPD16) [MIM:615395] 223,959,821(+) T/C/G coding_sequence_variant, missense_variant
rs1553539922 not-provided, Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency 223,959,938(+) T/C coding_sequence_variant, missense_variant

Structural Variations from Database of Genomic Variants (DGV) for MRPL44 Gene

Variant ID Type Subtype PubMed ID
nsv511173 CNV loss 21212237

Variation tolerance for MRPL44 Gene

Residual Variation Intolerance Score: 55% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.34; 53.67% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for MRPL44 Gene

Human Gene Mutation Database (HGMD)
MRPL44
SNPedia medical, phenotypic, and genealogical associations of SNPs for
MRPL44

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MRPL44 Gene

Disorders for MRPL44 Gene

MalaCards: The human disease database

(2) MalaCards diseases for MRPL44 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, and GeneCards

- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

RM44_HUMAN
  • Combined oxidative phosphorylation deficiency 16 (COXPD16) [MIM:615395]: An autosomal recessive, mitochondrial disorder characterized by hypertrophic cardiomyopathy, liver steatosis, and decreased levels of mitochondrial complexes I and IV in heart and skeletal muscle. {ECO:0000269 PubMed:23315540}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for MRPL44

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with MRPL44: view

No data available for Genatlas for MRPL44 Gene

Publications for MRPL44 Gene

  1. Structures of the human mitochondrial ribosome in native states of assembly. (PMID: 28892042) Brown A … Ramakrishnan V (Nature structural & molecular biology 2017) 3 4 56
  2. Structure of the large ribosomal subunit from human mitochondria. (PMID: 25278503) Brown A … Ramakrishnan V (Science (New York, N.Y.) 2014) 3 4 56
  3. Whole-exome sequencing identifies a mutation in the mitochondrial ribosome protein MRPL44 to underlie mitochondrial infantile cardiomyopathy. (PMID: 23315540) Carroll CJ … Suomalainen A (Journal of medical genetics 2013) 3 4 56
  4. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson SL … O'Brien SJ (PloS one 2010) 3 43 56
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 56

Products for MRPL44 Gene

Sources for MRPL44 Gene