Free for academic non-profit institutions. Other users need a Commercial license

Aliases for MRPL44 Gene

Aliases for MRPL44 Gene

  • Mitochondrial Ribosomal Protein L44 2 3 5
  • Mitochondrial Large Ribosomal Subunit Protein ML44 3 4
  • 39S Ribosomal Protein L44, Mitochondrial 2 3
  • MRP-L44 3 4
  • L44MT 3 4
  • EC 3.1.26.- 4
  • EC 3.1.26 58
  • COXPD16 3

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. Among its related pathways are Mitochondrial translation and Organelle biogenesis and maintenance. GO annotations related to this gene include poly(A) RNA binding and ribonuclease III activity.

UniProtKB/Swiss-Prot 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 , fRNAdb sequence ontologies and piRNA Summary for MRPL44 Gene

Genomics for MRPL44 Gene

Regulatory Elements for MRPL44 Gene

Enhancers for MRPL44 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH02H223893 1.8 FANTOM5 Ensembl ENCODE dbSUPER 15.7 -54.9 -54923 4 TBL1XR1 BMI1 BATF ZNF366 SCRT2 FOS ATF7 ETV6 RUNX3 CREM WDFY1 MRPL44 GC02P223865
GH02H223860 1.2 Ensembl ENCODE 18.3 -89.5 -89521 2 FOXA2 MLX ARID4B SIN3A RAD21 SLC30A9 ZNF143 SMARCC2 RCOR1 CREM MRPL44 AP1S3 GC02P223865
GH02H223928 1.5 Ensembl ENCODE dbSUPER 11.9 -20.6 -20616 2 FOXA2 ATF1 MLX ZFP64 ARID4B DMAP1 YY1 ATF7 ZHX2 MXD4 MRPL44 AP1S3 WDFY1 GC02P223865
GH02H223941 2 FANTOM5 Ensembl ENCODE dbSUPER 7.1 -7.2 -7156 4 PKNOX1 MLX ZFP64 ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 ZNF207 AP1S3 MRPL44 WDFY1 GC02P223865
GH02H223886 1.2 FANTOM5 Ensembl ENCODE dbSUPER 11.1 -63.7 -63690 0 TFE3 WDFY1 AP1S3 MRPL44 GC02P223865
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around MRPL44 on UCSC Golden Path with GeneCards custom track

Genomic Location for MRPL44 Gene

Chromosome:
2
Start:
223,950,890 bp from pter
End:
223,967,714 bp from pter
Size:
16,825 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). 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

Domains & Families for MRPL44 Gene

Gene Families for MRPL44 Gene

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

Protein Domains for MRPL44 Gene

Suggested Antigen Peptide Sequences for MRPL44 Gene

GenScript: Design optimal peptide antigens:

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 IDA 22681889
GO:0003725 double-stranded RNA binding IBA --
GO:0004518 nuclease activity IEA --
GO:0004519 endonuclease activity IEA --
GO:0004525 ribonuclease III activity IBA --
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

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for MRPL44
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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:0005575 cellular_component ND --
GO:0005634 nucleus IDA --
GO:0005739 mitochondrion IEA,IDA --
GO:0005743 mitochondrial inner membrane TAS --
GO:0005762 mitochondrial large ribosomal subunit IDA 25278503
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 --
GO:0070125 mitochondrial translational elongation TAS --
GO:0070126 mitochondrial translational termination TAS --
GO:0090501 RNA phosphodiester bond hydrolysis IEA --
GO:0090502 RNA phosphodiester bond hydrolysis, endonucleolytic IBA --
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

Unigene Clusters for MRPL44 Gene

Mitochondrial ribosomal protein L44:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for MRPL44
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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, PaxDb, 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
Organs:
Head and neck:
  • brain
  • ear
  • head
Thorax:
  • heart
  • heart valve
Abdomen:
  • liver
genes like me logo Genes that share expression patterns with MRPL44: view

Primer Products

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 34 33
  • 99.3 (n)
OneToOne
dog
(Canis familiaris)
Mammalia MRPL44 34 33
  • 89.66 (n)
OneToOne
cow
(Bos Taurus)
Mammalia MRPL44 34 33
  • 87.25 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Mrpl44 16 34 33
  • 81.93 (n)
rat
(Rattus norvegicus)
Mammalia Mrpl44 33
  • 81.83 (n)
oppossum
(Monodelphis domestica)
Mammalia MRPL44 34
  • 78 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia MRPL44 34
  • 69 (a)
OneToOne
chicken
(Gallus gallus)
Aves MRPL44 34 33
  • 65.02 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia MRPL44 34
  • 68 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia mrpl44 33
  • 59.51 (n)
Str.5690 33
African clawed frog
(Xenopus laevis)
Amphibia MGC64346 33
zebrafish
(Danio rerio)
Actinopterygii mrpl44 34 33
  • 59.89 (n)
OneToOne
Dr.2483 33
fruit fly
(Drosophila melanogaster)
Insecta mRpL44 35 33 34
  • 46.44 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP001898 33
  • 43.47 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.8292 34
  • 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)

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 Sequence Context AA Info Type
rs143697995 Pathogenic, Combined oxidative phosphorylation deficiency 16 (COXPD16) [MIM:615395] 223,959,821(+) AAATC(C/G/T)TGTTG reference, missense
rs144037629 Likely pathogenic 223,959,667(+) CCAAA(C/T)GCCAA reference, missense, utr-variant-5-prime
rs144334794 Likely pathogenic 223,963,830(+) CTATT(C/G/T)GTAGA reference, missense
rs534596036 Likely benign 223,957,510(+) GGGAC(A/G)TCGCT intron-variant, reference, missense
rs112912106 Benign 223,966,850(+) TGTTT(C/G)TTCTC intron-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)

Relevant External Links 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

(1) MalaCards diseases for MRPL44 Gene - From: HGMD, OMIM, GeneTests, Orphanet, Swiss-Prot, and GeneCards

Disorder Aliases PubMed IDs
combined oxidative phosphorylation deficiency 16
  • combined oxidative phosphorylation defect type 16
- 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.

Relevant External Links for MRPL44

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

No data available for Genatlas for MRPL44 Gene

Publications for MRPL44 Gene

  1. Structure of the large ribosomal subunit from human mitochondria. (PMID: 25278503) Brown A … Ramakrishnan V (Science (New York, N.Y.) 2014) 3 4 60
  2. 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 60
  3. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson SL … O'Brien SJ (PloS one 2010) 3 45 60
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 60
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 60

Products for MRPL44 Gene

Sources for MRPL44 Gene

Content
Loading form....