MRPL44 (mitochondrial ribosomal protein L44)

Gene Gene information from NCBI Gene database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 65080
Gene name Mitochondrial ribosomal protein L44
Gene symbol MRPL44
Synonyms (NCBI Gene)
COXPD16L44MTMRP-L44mL44
Chromosome 2
Chromosome location 2q36.1
Summary 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% prot
SNPs SNP information provided by dbSNP.
3
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (3)
SNP ID Visualize variation Clinical significance Consequence
rs143697995 T>C,G Pathogenic, likely-pathogenic Coding sequence variant, missense variant
rs144037629 C>T Likely-pathogenic Coding sequence variant, missense variant
rs1574796091 T>A Pathogenic Stop gained, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
247
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (247)
miRTarBase ID miRNA Experiments Reference
MIRT022007 hsa-miR-128-3p Sequencing 20371350
MIRT027245 hsa-miR-101-3p Sequencing 20371350
MIRT656177 hsa-miR-3973 HITS-CLIP 23824327
MIRT656176 hsa-miR-520g-3p HITS-CLIP 23824327
MIRT656175 hsa-miR-520h HITS-CLIP 23824327
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
27
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (27)
GO ID Ontology Definition Evidence Reference
GO:0003723 Function RNA binding HDA 22681889
GO:0003723 Function RNA binding IEA
GO:0003725 Function Double-stranded RNA binding IEA
GO:0004518 Function Nuclease activity IEA
GO:0004519 Function Endonuclease activity IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
611849 16650 ENSG00000135900
Protein Protein information from UniProt database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9H9J2
Protein name Large ribosomal subunit protein mL44 (EC 3.1.26.-) (39S ribosomal protein L44, mitochondrial) (L44mt) (MRP-L44)
Protein function Component of the 39S subunit of mitochondrial ribosome. May have a function in the assembly/stability of nascent mitochondrial polypeptides exiting the ribosome.
PDB 3J7Y , 3J9M , 5OOL , 5OOM , 6I9R , 6NU2 , 6NU3 , 6VLZ , 6VMI , 6ZM5 , 6ZM6 , 6ZS9 , 6ZSA , 6ZSB , 6ZSC , 6ZSD , 6ZSE , 6ZSG , 7A5F , 7A5G , 7A5H , 7A5I , 7A5J , 7A5K , 7L08 , 7L20 , 7O9K , 7O9M , 7ODR , 7ODS , 7ODT , 7OF0 , 7OF2 , 7OF3 , 7OF4 , 7OF5 , 7OF6 , 7OF7 , 7OG4 , 7OI6 , 7OI7 , 7OI8 , 7OI9 , 7OIA , 7OIB , 7OIC , 7OID , 7OIE , 7PD3 , 7PO4 , 7QH6
Family and domains
Sequence 
MASGLVRLLQQGHRCLLAPVAPKLVPPVRGVKKGFRAAFRFQKELERQRLLRCPPPPVRR
SEKPNWDYHAEIQAFGHRLQENFSLDLLKTAFVNSCYIKSEEAKRQQLGIEKEAVLLNLK
SNQELSEQGTSFSQTCLTQFLEDEYPDMPTEGIKNLVDFLTGEEVVCHVARNLAVEQLTL
SEEFPVPPAVLQQTFFAVIGALLQSSGPERTALFIRDFLITQMTGKELFEMWKIINPMGL
LVEELKKRNVSAPESRLTRQSGGTTALPLYFVGLYCDKKLIAEGPGETVLVAEEEAARVA
LRKLYGFTENRRPWNYSKPKETLRAEKSITAS
Sequence length 332
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  Reactome
    Mitochondrial translation elongation
Mitochondrial translation termination
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
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Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (2)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 Pathogenic rs1574796091 RCV000791065
Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency Pathogenic; Likely pathogenic rs2106116608, rs761343107, rs143697995 RCV001650514
RCV002267787
RCV000054810
Show/Hide Unknown Diseases (7)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Familial cancer of breast Likely benign rs775732943 RCV005926809
Germ cell tumor of testis Benign rs11546405 RCV005886658
Malignant lymphoma, large B-cell, diffuse Benign rs11546405 RCV005886656
Mitochondrial complex IV deficiency, nuclear type 1 Uncertain significance rs1553539922 RCV000509564
Show/Hide Text Mining Associations (13)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Acidosis Lactic Associate 34140213
Asthma Associate 30206357
Cardiomyopathies Associate 34140213
Cardiomyopathy Hypertrophic Associate 34140213
Colorectal Neoplasms Associate 36299603
Drug Hypersensitivity Associate 30206357
Fatigue Associate 34140213
Lymphatic Metastasis Associate 25590838
Mitochondrial Diseases Associate 34140213
Muscle Weakness Associate 34140213