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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... See more...
Aliases for MRPL44 Gene
Aliases for MRPL44 Gene
External Ids for MRPL44 Gene
- HGNC: 16650
- Entrez Gene: 65080
- Ensembl: ENSG00000135900
- OMIM: 611849
- UniProtKB: Q9H9J2
Previous GeneCards Identifiers for MRPL44 Gene
- GC02P222844
- GC02P223543
- GC02P224786
- GC02P225024
- GC02P224647
- GC02P224530
- GC02P216673
- GC02P224822
Summaries 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 Combined Oxidative Phosphorylation Deficiency 1. Among its related pathways are Mitochondrial translation and Organelle biogenesis and maintenance. Gene Ontology (GO) annotations related to this gene include ribonuclease III activity.
UniProtKB/Swiss-Prot Summary 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
- Monarch Initiative
- Search for MRPL44 at DataMed
- Search for MRPL44 at HumanCyc
No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for MRPL44 Gene
Genomics for MRPL44 Gene
GeneHancer (GH) Regulatory Elements for MRPL44 Gene
Promoters and enhancers for MRPL44 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication |
Request up-to-date GeneHancer data (full dataset)
GeneHancers around MRPL44 on UCSC Golden Path with GeneCards custom track
- Top Transcription factor binding sites by QIAGEN in the MRPL44 gene promoter:
-
- AP-1
- c-Fos
- c-Jun
- c-Myb
- CUTL1
- GATA-1
- HNF-4alpha1
- Ik-1
- NRF-2
- ZID
Genomic Locations for MRPL44 Gene
Genomic Locations for MRPL44 Gene
- chr2:223,950,890-223,967,714
- (GRCh38/hg38)
- Size:
- 16,825 bases
- Orientation:
- Plus strand
- chr2:224,822,121-224,832,431
- (GRCh37/hg19)
- Size:
- 10,311 bases
- Orientation:
- Plus strand
Genomic View for MRPL44 Gene
Genes around MRPL44 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 2q36.1 by HGNC
- 2q36.1 by Entrez Gene
- 2q36.1 by Ensembl
MRPL44 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene 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
- 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) (PubMed:28892042, PubMed:25838379, PubMed:25278503). 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.
Protein Expression for MRPL44 Gene
Selected DME Specific Peptides for MRPL44 Gene
- Q9H9J2:
-
- LFIRDFLITQMTGKELFE
- NSCYIKSEEAKRQ
Post-translational modifications for MRPL44 Gene
Other Protein References for MRPL44 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- G Biosciences Immunotag™ MRPL44 Antibody
- Atlas Antibodies Anti-MRPL44 Antibody (HPA038147) and Anti-MRPL44 Antibody (HPA038148)
- Creative Diagnostics Anti-MRPL44 (aa 32-61) polyclonal antibody and Anti-MRPL44 monoclonal antibody
- Creative Biolabs Mouse Anti-MRPL44 Recombinant Antibody (CBFYM-2564)
- Novus Biologicals Antibodies for MRPL44
- Invitrogen Antibodies for MRPL44 (AFLGC-MRPL44)
-
Boster Bio Antibodies for MRPL44
-
Santa Cruz Biotechnology (SCBT) Antibodies for MRPL44
- Sino Biological Antibodies for MRPL44
Protein Products
- Atlas Antibodies PrEST Antigen MRPL44 (APrEST79058) and PrEST Antigen MRPL44 (APrEST87278)
- Creative Biomart Recombinant Human MRPL44, His-tagged, Recombinant Human MRPL44, and Recombinant Human MRPL44 cell lysate
-
OriGene Purified Proteins for MRPL44
- Search Origene for MassSpec and Protein Over-expression Lysates for MRPL44
- Origene Custom Protein Services for MRPL44
- Sino Biological Cell Lysates for MRPL44
- Sino Biological Recombinant Proteins for MRPL44
- antibodies-online: Show 6 available MRPL44 Proteins ranked by validation data
- Compare Top MRPL44 Proteins
-
Quality Products:
-
Abcam proteins for MRPL44
Domains & Families for MRPL44 Gene
Gene Families for MRPL44 Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Disease related genes
- Predicted intracellular proteins
- Ribosomal proteins
Protein Domains for MRPL44 Gene
- Blocks:
- InterPro:
- ProtoNet:
Suggested Antigen Peptide Sequences for MRPL44 Gene
- GenScript: Design optimal peptide antigens:
-
- 39S ribosomal protein L44, mitochondrial (RM44_HUMAN)
Graphical View of Domain Structure for InterPro Entry
Q9H9J2UniProtKB/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.
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
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0003723 | RNA binding | HDA | 22681889 |
| GO:0003725 | double-stranded RNA binding | IBA | 21873635 |
| GO:0004518 | nuclease activity | IEA | -- |
| GO:0004519 | endonuclease activity | IEA | -- |
| GO:0004525 | ribonuclease III activity | IBA | 21873635 |
Phenotypes for MRPL44 Gene
- MGI mutant phenotypes for MRPL44:
- inferred from 1 alleles
- GenomeRNAi human phenotypes for MRPL44:
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR Products
-
OriGene CRISPR knockouts for MRPL44
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for MRPL44
- genomics-online: gRNA clones - Search for available MRPL44 gRNA products
- Overview of 117 available MRPL44 gene related products
- Applied Biological Materials (abm): CRISPR Clones for MRPL44 - Select products 50% OFF >
- * MRPL44 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * MRPL44 CRISPR applications: KO, Activation, Repression, and more - Browse All
-
Santa Cruz Biotechnology (SCBT) CRISPR for MRPL44
miRNA for MRPL44 Gene
- miRTarBase miRNAs that target MRPL44
-
- hsa-mir-128-3p (MIRT022007)
- hsa-mir-101-3p (MIRT027245)
- hsa-mir-607 (MIRT656171)
- hsa-mir-6868-3p (MIRT656172)
- hsa-mir-452-3p (MIRT656173)
- hsa-mir-205-5p (MIRT656174)
- hsa-mir-520h (MIRT656175)
- hsa-mir-520g-3p (MIRT656176)
- hsa-mir-3973 (MIRT656177)
- hsa-mir-1237-5p (MIRT736313)
- hsa-mir-1294 (MIRT737174)
- hsa-mir-149-3p (MIRT737752)
- hsa-mir-1908-5p (MIRT738323)
- hsa-mir-3180-3p (MIRT740777)
- hsa-mir-3180 (MIRT740817)
- hsa-mir-3196 (MIRT741075)
- hsa-mir-328-5p (MIRT741293)
- hsa-mir-3689d (MIRT742474)
- hsa-mir-377-5p (MIRT742694)
- hsa-mir-4271 (MIRT743626)
- hsa-mir-4316 (MIRT743999)
- hsa-mir-4321 (MIRT744029)
- hsa-mir-4488 (MIRT745235)
- hsa-mir-4537 (MIRT746094)
- hsa-mir-455-3p (MIRT746191)
- hsa-mir-4677-3p (MIRT746906)
- hsa-mir-4697-5p (MIRT747239)
- hsa-mir-4706 (MIRT747333)
- hsa-mir-4716-3p (MIRT747493)
- hsa-mir-4725-3p (MIRT747707)
- hsa-mir-4728-5p (MIRT747848)
- hsa-mir-4749-5p (MIRT748314)
- hsa-mir-4781-5p (MIRT748800)
- hsa-mir-6086 (MIRT751848)
- hsa-mir-6134 (MIRT752440)
- hsa-mir-625-5p (MIRT752594)
- hsa-mir-6499-3p (MIRT752808)
- hsa-mir-649 (MIRT752872)
- hsa-mir-6516-5p (MIRT753350)
- hsa-mir-663a (MIRT753583)
- hsa-mir-6777-5p (MIRT755391)
- hsa-mir-6780b-5p (MIRT755638)
- hsa-mir-6785-5p (MIRT755843)
- hsa-mir-6787-5p (MIRT755944)
- hsa-mir-6794-5p (MIRT756093)
- hsa-mir-6816-5p (MIRT756803)
- hsa-mir-6825-5p (MIRT756996)
- hsa-mir-6851-5p (MIRT757597)
- hsa-mir-6880-5p (MIRT758311)
- hsa-mir-6883-5p (MIRT758428)
- hsa-mir-6885-5p (MIRT758542)
- hsa-mir-6889-5p (MIRT758640)
- hsa-mir-7847-3p (MIRT759848)
- hsa-mir-7854-3p (MIRT759925)
miRNA Products
Inhibitory RNA Products
- Origene sirna, shrna, and RNAi products in human, mouse, rat for MRPL44
- Browse OriGene Inhibitory RNA Products For MRPL44
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MRPL44
- genomics-online: shRNA clones - Search for available MRPL44 shRNA products
- Overview of 117 available MRPL44 gene related products
Clone Products
- Sino Biological Human cDNA Clone for MRPL44
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for MRPL44
- Applied Biological Materials (abm): Clones for MRPL44 - Select products 50% OFF >
- * MRPL44 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * MRPL44 tags and reporters available: His, HA, Myc, Flag, GFP, RFP, Luciferase - Browse All
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.
| Compartment | Confidence |
|---|---|
| mitochondrion | 5 |
| plasma membrane | 4 |
| nucleus | 4 |
- Mitochondria (3)
- Nucleus (2)
- Plasma membrane (2)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005634 | nucleus | IBA,IDA | -- |
| GO:0005739 | mitochondrion | IEA,IDA | 28892042 |
| GO:0005743 | mitochondrial inner membrane | TAS | -- |
| GO:0005762 | mitochondrial large ribosomal subunit | IDA | 25278503 |
| GO:0005840 | ribosome | IEA | -- |
Pathways & Interactions for MRPL44 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Mitochondrial translation | ||
| 2 | Organelle biogenesis and maintenance | ||
Pathways by source for MRPL44 Gene
Interacting Proteins for MRPL44 Gene
Selected Interacting proteins:
Q9H9J2-RM44_HUMAN
ENSP00000258383
for MRPL44 Gene via
UniProtKB
MINT
STRING
IID
GPS-Prot Interaction Network for MRPL44
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0006396 | RNA processing | IBA | 21873635 |
| GO:0030422 | production of siRNA involved in RNA interference | IBA | 21873635 |
| GO:0031053 | primary miRNA processing | IBA | 21873635 |
| GO:0031054 | pre-miRNA processing | IBA | 21873635 |
| GO:0070125 | mitochondrial translational elongation | TAS | -- |
No data available for SIGNOR curated interactions for MRPL44 Gene
Drugs & Compounds for MRPL44 Gene
No Compound Related Data Available
Drug Products
- Atlas Antibodies PrEST Antigen MRPL44 (APrEST79058) and PrEST Antigen MRPL44 (APrEST87278)
- Creative Biomart Recombinant Human MRPL44, His-tagged, Recombinant Human MRPL44, and Recombinant Human MRPL44 cell lysate
Transcripts for MRPL44 Gene
mRNA/cDNA for MRPL44 Gene
- (1) REFSEQ mRNAs :
- (10) Additional mRNA sequences :
- (178) Selected AceView cDNA sequences:
- (1) Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000258383 1689 bps (ENST00000258383.3)
CRISPR Products
-
OriGene CRISPR knockouts for MRPL44
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for MRPL44
- genomics-online: gRNA clones - Search for available MRPL44 gRNA products
- Overview of 117 available MRPL44 gene related products
- Applied Biological Materials (abm): CRISPR Clones for MRPL44 - Select products 50% OFF >
- * MRPL44 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * MRPL44 CRISPR applications: KO, Activation, Repression, and more - Browse All
-
Santa Cruz Biotechnology (SCBT) CRISPR for MRPL44
miRNA Products
Inhibitory RNA Products
- Origene sirna, shrna, and RNAi products in human, mouse, rat for MRPL44
- Browse OriGene Inhibitory RNA Products For MRPL44
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MRPL44
- genomics-online: shRNA clones - Search for available MRPL44 shRNA products
- Overview of 117 available MRPL44 gene related products
Clone Products
- Sino Biological Human cDNA Clone for MRPL44
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for MRPL44
- Applied Biological Materials (abm): Clones for MRPL44 - Select products 50% OFF >
- * MRPL44 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * MRPL44 tags and reporters available: His, HA, Myc, Flag, GFP, RFP, Luciferase - Browse All
Expression for MRPL44 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
This gene is overexpressed in Lung (18.0) and Breast (15.5).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for MRPL44 Gene
- Elite partner
NURSA nuclear receptor signaling pathways regulating expression of MRPL44 Gene:
MRPL44SOURCE GeneReport for Unigene cluster for MRPL44 Gene:
Hs.203559Evidence 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
Regions:
Head and neck:
- brain
- ear
- head
Thorax:
- heart
- heart valve
Abdomen:
- liver
Primer Products
-
OriGene qPCR primer pairs for MRPL44
- genomics-online: primer clones - Search for available MRPL44 Primer products
- Overview of 117 available MRPL44 gene related products
Gene Expression 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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | MRPL44 33 32 |
|
OneToOne | |
| dog (Canis familiaris) |
Mammalia | MRPL44 33 32 |
|
OneToOne | |
| cow (Bos Taurus) |
Mammalia | MRPL44 33 32 |
|
OneToOne | |
| mouse (Mus musculus) |
Mammalia | Mrpl44 17 33 32 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Mrpl44 32 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | MRPL44 33 |
|
OneToOne | |
| platypus (Ornithorhynchus anatinus) |
Mammalia | MRPL44 33 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | MRPL44 33 32 |
|
OneToOne | |
| lizard (Anolis carolinensis) |
Reptilia | MRPL44 33 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | mrpl44 32 |
|
||
| Str.5690 32 |
|
||||
| African clawed frog (Xenopus laevis) |
Amphibia | MGC64346 32 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | mrpl44 33 32 |
|
OneToOne | |
| Dr.2483 32 |
|
||||
| fruit fly (Drosophila melanogaster) |
Insecta | mRpL44 33 34 32 |
|
OneToOne | |
| African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP001898 32 |
|
||
| sea squirt (Ciona savignyi) |
Ascidiacea | CSA.8292 33 |
|
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)
- Aminode:
- Evolutionary constrained regions (ECRs) for MRPL44: view image
Paralogs for MRPL44 Gene
No data available for Paralogs for MRPL44 Gene
Variants for MRPL44 Gene
| SNP ID | Clin | Chr 02 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs11546405 | benign, not specified, not provided | 223,959,900(+) | A/G | coding_sequence_variant, synonymous_variant | |
| rs11546406 | benign, not specified, - | 223,959,767(+) | C/T | coding_sequence_variant, missense_variant | |
| rs141821599 | not-provided, Combined oxidative phosphorylation deficiency 16 | 223,959,850(+) | G/A/T | coding_sequence_variant, missense_variant | |
| rs143697995 | likely-pathogenic, pathogenic, Combined oxidative phosphorylation deficiency 16, not provided, Combined oxidative phosphorylation deficiency 16 (COXPD16) [MIM:615395] | 223,959,821(+) | T/C/G | coding_sequence_variant, missense_variant | |
| rs1553539922 | not-provided, Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency | 223,959,938(+) | T/C | coding_sequence_variant, missense_variant |
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)
Additional Variant Information for MRPL44 Gene
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MRPL44 Gene
Disorders for MRPL44 Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| combined oxidative phosphorylation deficiency 16 |
|
|
| combined oxidative phosphorylation deficiency 1 |
|
|
Search MRPL44 in MalaCards
View complete list of genes associated with diseases
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.
Additional Disease Information for MRPL44
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
No data available for Genatlas for MRPL44 Gene
Publications for MRPL44 Gene
- Structures of the human mitochondrial ribosome in native states of assembly. (PMID: 28892042) Brown A … Ramakrishnan V (Nature structural & molecular biology 2017) 3 4 56
- Structure of the large ribosomal subunit from human mitochondria. (PMID: 25278503) Brown A … Ramakrishnan V (Science (New York, N.Y.) 2014) 3 4 56
- 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 56
- Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson SL … O'Brien SJ (PloS one 2010) 3 43 56
- Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 56
ExternalLinks
Products for MRPL44 Gene
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- Quality Products:
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- Overview of 117 available MRPL44 gene related products
- orf clones - Search for available MRPL44 ORF products
- Overview of 117 available MRPL44 gene related products
- genomics-online: gRNA clones - Search for available MRPL44 gRNA products
- Overview of 117 available MRPL44 gene related products
- genomics-online: primer clones - Search for available MRPL44 Primer products
- Overview of 117 available MRPL44 gene related products
- genomics-online: shRNA clones - Search for available MRPL44 shRNA products
- Overview of 117 available MRPL44 gene related products
- Browse GeneCopoeia Cell Lines
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for MRPL44
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for MRPL44
- Search GeneCopoeia for miRNA 3'UTR Target clone products for MRPL44
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MRPL44
- Boster Bio Antibodies for MRPL44
- Browse Boster Bio ELISA Kits
Sources for MRPL44 Gene
- (1) GeneCards
- (2) HGNC
- (3) NCBI Entrez Gene
- (4) UniProtKB/Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) Cell Signaling Technology
- (12) GO
- (13) UniProtKB/TrEMBL
- (14) InterPro
- (15) ProtoNet
- (16) Blocks
- (17) MGI
- (18) IUBMB
- (19) KEGG
- (20) MINT
- (21) STRING
- (22) IntAct
- (23) Novoseek
- (24) PharmGKB
- (25) DrugBank
- (26) HMDB
- (27) AceView
- (28) ASD
- (29) ECgene
- (30) CGAP SAGE
- (31) SOURCE
- (32) HomoloGene
- (33) PanEnsembl
- (34) euGenes
- (35) SGD
- (36) FlyBase
- (37) WormBase
- (38) Pseudogene
- (39) DGV
- (40) dbSNP
- (41) GenAtlas
- (42) HGMD
- (43) GAD
- (44) BGMUT
- (45) HuGE
- (46) Atlas
- (47) GenBank
- (48) H-invDB
- (49) HORDE
- (50) HUGE
- (51) IMGT
- (52) Leiden
- (53) miRBase
- (54) DME
- (55) OriGene
- (56) PubMed
- (57) R&D Systems
- (58) TGDB
- (59) Tocris
- (60) Abcam
- (61) Novus Biologicals
- (62) ProSpec
- (63) Sino Biological
- (64) GenScript
- (65) Qiagen
- (66) OCA
- (67) Proteopedia
- (68) MOPED
- (69) neXtProt
- (70) Reactome
- (71) GeneGo (Thomson Reuters)
- (72) DISEASES
- (73) SIMAP
- (74) GenomeRNAi
- (75) LifeMap
- (76) miRTarBase
- (77) MalaCards
- (78) Invitrogen
- (79) BitterDB
- (80) ESI-BIO
- (81) RefSeq
- (82) BioSystems
- (83) MaxQB
- (84) IUPHAR
- (85) BioGPS
- (86) Illumina
- (87) COMPARTMENTS
- (88) HOMER
- (89) PaxDb
- (90) ApexBio
- (91) Addgene
- (92) antibodies-online
- (93) CYP
- (94) NONCODE
- (95) TreeFam
- (96) PathCards
- (97) GeneReviews
- (98) GeneTex
- (99) Taconic Biosciences
- (100) GTEx
- (101) ProteomicsDB
- (102) SCBT
- (103) DGIdb
- (104) ClinicalTrials
- (105) RVIS
- (106) SIGNOR
- (107) diseasecard
- (108) NIH Rare Diseases
- (109) Orphanet
- (110) UMLS
- (111) GTR
- (112) Disease Ontology
- (113) Genetics Home Reference
- (114) MeSH
- (115) MedlinePlus
- (116) CDC
- (117) NINDS
- (118) NCBI Bookshelf
- (119) ClinVar
- (120) Gene Damage Index
- (121) HPO
- (122) UDN
- (123) VISTA
- (124) FANTOM5
- (125) ENCODE
- (126) ProSci
- (127) Horizon
- (128) NURSA
- (129) IID
- (130) VectorBuilder
- (131) SNPedia
- (132) BRCA Exchange
- (133) CIViC
- (134) ProteoGenix
- (135) dbSUPER
- (136) TISSUES
- (137) Gene ORGANizer
- (138) abm
- (139) Human Protein Atlas
- (140) GWAS Catalog
- (141) Monarch Initiative
- (142) DataMed
- (143) HumanCyc
- (144) genomics-online
- (145) UCNEbase
- (146) EPDnew
- (147) Applied Biosystems
- (148) GlyConnect
- (149) Aminode
- (150) GeneCopoeia
- (151) GPS-Prot
- (152) RNACentral
- (153) LncRNADisease
- (154) LOVD
- (155) miR2Disease
- (156) DiseaseEnhancer
- (157) Boster Bio
- (158) Biorbyt
- (159) Biocompare
- (160) Mastermind
- (161) CTD^2 Dashboard
- (162) CraniofacialAtlas
- (163) GeneImprint
- (164) Synthego
- (165) Bio Basic
- (166) ENA
- (167) GtRNAdb
- (168) LncBase
- (169) LncBook
- (170) LNCipedia
- (171) LncRNAdb
- (172) Modomics
- (173) PDBe
- (174) Rfam
- (175) SILVA
- (176) snOPY
- (177) SRPDB
- (178) GENCODE
- (179) TarBase
- (180) MyBioSource