ENSG00000135900


Homo sapiens

Features
Gene ID: ENSG00000135900
  
Biological name :MRPL44
  
Synonyms : mitochondrial ribosomal protein L44 / MRPL44 / Q9H9J2
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 2
Strand: 1
Band: q36.1
Gene start: 223957404
Gene end: 223967714
  
Corresponding Affymetrix probe sets: 218202_x_at (Human Genome U133 Plus 2.0 Array)   222555_s_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000258383
NCBI entrez gene - 65080     See in Manteia.
OMIM - 611849
RefSeq - XM_017004731
RefSeq - NM_022915
RefSeq - XM_017004730
RefSeq Peptide - NP_075066
swissprot - Q9H9J2
swissprot - A0A024R473
Ensembl - ENSG00000135900
  
Related genetic diseases (OMIM): 615395 - ?Combined oxidative phosphorylation deficiency 16, 615395
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 mrpl44ENSDARG00000094277Danio rerio
 MRPL44ENSGALG00000003067Gallus gallus
 Mrpl44ENSMUSG00000026248Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
No match


Protein motifs (from Interpro)
Interpro ID Name
 IPR014720  Double-stranded RNA-binding domain
 IPR036389  Ribonuclease III, endonuclease domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006396 RNA processing IBA
 biological_processGO:0070125 mitochondrial translational elongation TAS
 biological_processGO:0070126 mitochondrial translational termination TAS
 biological_processGO:0090501 RNA phosphodiester bond hydrolysis IEA
 biological_processGO:0090502 RNA phosphodiester bond hydrolysis, endonucleolytic IBA
 cellular_componentGO:0005634 nucleus IDA
 cellular_componentGO:0005739 mitochondrion IEA
 cellular_componentGO:0005743 mitochondrial inner membrane TAS
 cellular_componentGO:0005762 mitochondrial large ribosomal subunit IDA
 cellular_componentGO:0005840 ribosome IEA
 cellular_componentGO:0005886 plasma membrane IDA
 molecular_functionGO:0003723 RNA binding IEA
 molecular_functionGO:0003725 double-stranded RNA binding IBA
 molecular_functionGO:0004518 nuclease activity IEA
 molecular_functionGO:0004519 endonuclease activity IEA
 molecular_functionGO:0004525 ribonuclease III activity IBA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0016787 hydrolase activity IEA


Pathways (from Reactome)
Pathway description
Mitochondrial translation initiation
Mitochondrial translation elongation
Mitochondrial translation termination


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000007 Autosomal recessive inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele)." [HPO:curators]
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 HP:0001414 Microvesicular steatosis 
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 HP:0001639 Hypertrophic cardiomyopathy 
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 HP:0002151 Increased serum lactate "Abnormally increased level of blood lactate (2-hydroxypropanoic acid). Lactate is produced from pyruvate by lactate dehydrogenase during normal metabolism." [HPO:curators]
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 HP:0002910 Elevated transaminases "Elevations of the levels of SGOT and SGPT in the serum. SGOT (serum glutamic oxaloacetic transaminase) and SGPT (serum glutamic pyruvic transaminase) are transaminases primarily found in the liver and heart and are released into the bloodstream as the result of liver or heart damage. SGOT and SGPT are used clinically mainly as markers of liver damage." [HPO:curators]
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 HP:0003593 Early onset 
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 HP:0003828 Variable expressivity 
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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