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Aliases for MRPL44 Gene

Aliases for MRPL44 Gene

  • Mitochondrial Ribosomal Protein L44 2 3
  • COXPD16 3 6
  • MRP-L44 3 4
  • L44MT 3 4
  • 39S Ribosomal Protein L44, Mitochondrial 3
  • 39S Ribosomal Protein L44 2
  • Mitochondrial 2
  • EC 3.1.26.- 4
  • EC 3.1.26 63

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 oncogenic osteomalacia. GO annotations related to this gene include 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.

No data available for 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

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for MRPL44 Gene

Start:
223,957,404 bp from pter
End:
223,967,714 bp from pter
Size:
10,311 bases
Orientation:
Plus strand

Genomic View for MRPL44 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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:
    No Data Available

    Three dimensional structures from OCA and Proteopedia for MRPL44 Gene

neXtProt entry for MRPL44 Gene

Proteomics data for MRPL44 Gene at MOPED

Selected DME Specific Peptides for MRPL44 Gene

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 for MRPL44 Gene

Gene Families for MRPL44 Gene

HGNC:
  • MRPL :Mitochondrial ribosomal proteins / large subunits

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 :
  • Q9H9J2
Domain:
  • Contains 1 DRBM (double-stranded RNA-binding) domain.
  • Contains 1 RNase III domain.
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

Gene Ontology (GO) - Molecular Function for MRPL44 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003723 RNA binding --
GO:0004525 ribonuclease III activity IEA --
GO:0005515 protein binding IPI 25416956
GO:0044822 poly(A) RNA binding IDA 22681889
genes like me logo Genes that share ontologies with MRPL44: view

Animal Model Products

CRISPR Products

miRNA for MRPL44 Gene

miRTarBase miRNAs that target MRPL44

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for MRPL44

In Situ Assay Products

Flow Cytometry Products

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

Localization for MRPL44 Gene

Subcellular locations from UniProtKB/Swiss-Prot for MRPL44 Gene

Mitochondrion.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for MRPL44 Gene COMPARTMENTS Subcellular localization image for MRPL44 gene
Compartment Confidence
mitochondrion 5
nucleus 1
plasma membrane 1

Gene Ontology (GO) - Cellular Components for MRPL44 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005575 cellular_component ND --
GO:0005739 mitochondrion --
GO:0005743 mitochondrial inner membrane TAS --
GO:0005840 ribosome IEA --
genes like me logo Genes that share ontologies with MRPL44: view

Pathways for MRPL44 Gene

SuperPathways for MRPL44 Gene

No Data Available

Gene Ontology (GO) - Biological Process for MRPL44 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006396 RNA processing IEA --
GO:0006996 organelle organization TAS --
GO:0032543 mitochondrial translation TAS --
GO:0070124 mitochondrial translational initiation TAS --
GO:0070125 mitochondrial translational elongation TAS --
genes like me logo Genes that share ontologies with MRPL44: view

No data available for Pathways by source for MRPL44 Gene

Transcripts for MRPL44 Gene

mRNA/cDNA for MRPL44 Gene

(178) Selected AceView cDNA sequences:
(2) REFSEQ mRNAs :
(4) Additional mRNA sequences :
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for MRPL44 Gene

Mitochondrial ribosomal protein L44:
Representative Sequences:

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for MRPL44

Primer Products

  • OriGene qSTAR qPCR primer pairs in human,mouse,rat for MRPL44

Flow Cytometry 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 for MRPL44 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for MRPL44 Gene

SOURCE GeneReport for Unigene cluster for MRPL44 Gene Hs.203559

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

In Situ Assay 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 35
  • 99.3 (n)
  • 99.1 (a)
MRPL44 36
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia MRPL44 35
  • 87.25 (n)
  • 87.95 (a)
MRPL44 36
  • 88 (a)
OneToOne
dog
(Canis familiaris)
Mammalia MRPL44 35
  • 89.66 (n)
  • 90.96 (a)
MRPL44 36
  • 91 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Mrpl44 35
  • 81.93 (n)
  • 85.84 (a)
Mrpl44 16
Mrpl44 36
  • 86 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia MRPL44 36
  • 78 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia MRPL44 36
  • 69 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Mrpl44 35
  • 81.83 (n)
  • 87.05 (a)
chicken
(Gallus gallus)
Aves MRPL44 35
  • 65.02 (n)
  • 67.18 (a)
MRPL44 36
  • 67 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia MRPL44 36
  • 68 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia MGC64346 35
tropical clawed frog
(Silurana tropicalis)
Amphibia mrpl44 35
  • 59.51 (n)
  • 56.41 (a)
Str.5690 35
zebrafish
(Danio rerio)
Actinopterygii Dr.2483 35
mrpl44 35
  • 59.89 (n)
  • 61.38 (a)
mrpl44 36
  • 55 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP001898 35
  • 43.47 (n)
  • 37.36 (a)
fruit fly
(Drosophila melanogaster)
Insecta mRpL44 35
  • 46.44 (n)
  • 36.64 (a)
mRpL44 36
  • 34 (a)
OneToOne
mRpL44 37
  • 35 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.8292 36
  • 33 (a)
OneToOne
Species with no ortholog for MRPL44:
  • 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 MAF
rs10980 -- 223,967,629(+) TTTGC(C/G)TCTAG utr-variant-3-prime
rs281372 -- 223,962,922(-) gagtt(C/T)gagag intron-variant
rs873956 -- 223,960,879(+) ATTCT(A/G)CAAGG intron-variant
rs893360 -- 223,960,884(-) GACTA(C/T)CTTGT intron-variant
rs1036600 -- 223,955,980(-) AACAA(C/T)GAGAG upstream-variant-2KB

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

Variant ID Type Subtype PubMed ID
nsv511173 CNV Loss 21212237

Relevant External Links for MRPL44 Gene

HapMap Linkage Disequilibrium report
MRPL44
Human Gene Mutation Database (HGMD)
MRPL44

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

Disorders for MRPL44 Gene

(1) OMIM Diseases for MRPL44 Gene (611849)

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

Publications for MRPL44 Gene

  1. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4
  2. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4
  3. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson S.L. … O'Brien S.J. (PLoS ONE 2010) 3 48
  4. Whole-exome sequencing identifies a mutation in the mitochondrial ribosome protein MRPL44 to underlie mitochondrial infantile cardiomyopathy. (PMID: 23315540) Carroll C.J. … Suomalainen A. (J. Med. Genet. 2013) 3 4
  5. The large subunit of the mammalian mitochondrial ribosome. Analysis of the complement of ribosomal proteins present. (PMID: 11551941) Koc E.C. … Spremulli L.L. (J. Biol. Chem. 2001) 3 4

Products for MRPL44 Gene

Sources for MRPL44 Gene

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