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Aliases for MRPL44 Gene

Aliases for MRPL44 Gene

  • Mitochondrial Ribosomal Protein L44 2 3 5
  • MRP-L44 3 4
  • L44MT 3 4
  • 39S Ribosomal Protein L44 2
  • Mitochondrial 2
  • EC 3.1.26.- 4
  • EC 3.1.26 63
  • 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 Organelle biogenesis and maintenance and Mitochondrial translation. 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.

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

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:
    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:

Antibody Products

Domains & Families for MRPL44 Gene

Gene Families for MRPL44 Gene

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 :
  • Contains 1 DRBM (double-stranded RNA-binding) domain.
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

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

No data available for Gene Ontology (GO) - Molecular Function , 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
Jensen Localization Image for MRPL44 Gene COMPARTMENTS Subcellular localization image for MRPL44 gene
Compartment Confidence
mitochondrion 5
nucleus 3

No data available for Gene Ontology (GO) - Cellular Components for MRPL44 Gene

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:0006996 organelle organization TAS --
GO:0030422 production of siRNA involved in RNA interference IBA --
GO:0032543 mitochondrial translation TAS --
GO:0070126 mitochondrial translational termination 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

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

Unigene Clusters for MRPL44 Gene

Mitochondrial ribosomal protein L44:
Representative Sequences:

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

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, MOPED, and MaxQB for MRPL44 Gene



SOURCE GeneReport for Unigene cluster for MRPL44 Gene Hs.203559

genes like me logo Genes that share expression patterns with MRPL44: view

Protein tissue co-expression partners for MRPL44 Gene

- Elite partner

Primer Products

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
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
chimpanzee
(Pan troglodytes)
Mammalia MRPL44 35
  • 99.3 (n)
  • 99.1 (a)
MRPL44 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Mrpl44 35
  • 81.83 (n)
  • 87.05 (a)
oppossum
(Monodelphis domestica)
Mammalia MRPL44 36
  • 78 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia MRPL44 36
  • 69 (a)
OneToOne
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
tropical clawed frog
(Silurana tropicalis)
Amphibia mrpl44 35
  • 59.51 (n)
  • 56.41 (a)
Str.5690 35
African clawed frog
(Xenopus laevis)
Amphibia MGC64346 35
zebrafish
(Danio rerio)
Actinopterygii Dr.2483 35
mrpl44 35
  • 59.89 (n)
  • 61.38 (a)
mrpl44 36
  • 55 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta mRpL44 37
  • 35 (a)
mRpL44 35
  • 46.44 (n)
  • 36.64 (a)
mRpL44 36
  • 34 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP001898 35
  • 43.47 (n)
  • 37.36 (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
rs11546406 - 223,959,767(+) CCTTA(C/T)ACAGT reference, missense
VAR_070568 Combined oxidative phosphorylation deficiency 16 (COXPD16)
rs10980 -- 223,967,629(+) TTTGC(C/G)TCTAG utr-variant-3-prime
rs281372 -- 223,962,922(-) gagtt(C/T)gagag intron-variant
rs893360 -- 223,960,884(-) GACTA(C/T)CTTGT 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

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

MalaCards: The human disease database

(1) MalaCards diseases for MRPL44 Gene - From: OMIM, ClinVar, 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. 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 67
  2. A metabolic phenotype based on mitochondrial ribosomal protein expression as a predictor of lymph node metastasis in papillary thyroid carcinoma. (PMID: 25590838) Lee J. … Jo Y.S. (Medicine (Baltimore) 2015) 3
  3. BioID-based Identification of Skp Cullin F-box (SCF)I^-TrCP1/2 E3 Ligase Substrates. (PMID: 25900982) Coyaud E. … Raught B. (Mol. Cell Proteomics 2015) 3
  4. Temporal proteomics of NGF-TrkA signaling identifies an inhibitory role for the E3 ligase Cbl-b in neuroblastoma cell differentiation. (PMID: 25921289) Emdal K.B. … Olsen J.V. (Sci Signal 2015) 3
  5. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3

Products for MRPL44 Gene

Sources for MRPL44 Gene

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