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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
- NCBI Entrez Gene: 65080
- Ensembl: ENSG00000135900
- OMIM®: 611849
- UniProtKB/Swiss-Prot: 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
- HGNC (16650)
- NCBI Entrez Gene (65080)
- Ensembl (ENSG00000135900)
- OMIM® (611849)
- UniProtKB/Swiss-Prot (Q9H9J2)
- Open Targets Platform(ENSG00000135900)
- 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 Pubs
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 the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for MRPL44
- 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
Latest Assembly
- chr2:223,950,846-223,967,714
- (GRCh38/hg38)
- Size:
- 16,869 bases
- Orientation:
- Plus strand
Previous Assembly
- chr2:224,822,180-224,832,431
- (GRCh37/hg19 by Entrez Gene)
- Size:
- 10,252 bases
- Orientation:
- Plus strand
- chr2:224,822,121-224,832,431
- (GRCh37/hg19 by Ensembl)
- 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:
Antibodies for research
- G Biosciences Immunotag™ MRPL44 Antibody
- Novus Biologicals Antibodies for MRPL44
- Invitrogen Antibodies for MRPL44 (AFLGC-MRPL44)
-
Boster Bio Antibodies for MRPL44
-
Custom Antibody ServicesProSci Antibodies for MRPL44
-
Santa Cruz Biotechnology (SCBT) Antibodies for MRPL44
- Sino Biological Antibodies for MRPL44
Protein products for research
-
OriGene Purified Proteins for MRPL44
- Search Origene for MassSpec and Protein Over-expression Lysates for MRPL44
- Origene Custom Protein Services for MRPL44
- Sino Biological Recombinant Proteins for MRPL44
- Sino Biological Cell Lysates for MRPL44
- antibodies-online: Show 6 available MRPL44 Proteins ranked by validation data
- Compare Top MRPL44 Proteins
-
Quality Products:
-
Abcam proteins for MRPL44
Assay products for research
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
- InterPro:
- Blocks:
-
- Double-stranded RNA binding (DsRBD) domain
- 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 | IEA,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 Models for research
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR products for research
- Applied Biological Materials (abm): CRISPR Clones for MRPL44 - Starting at $85 >
- * MRPL44 CRISPR as ready-to-use vector or virus: Non-viral | Lenti- | Adeno- | AAV- | siRNA - Browse All
- * Cas9 Nucleases, Nickases, Null Mutants, and GFP tag also available.
-
OriGene CRISPR knockouts for MRPL44
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for MRPL44
-
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 for research
Inhibitory RNAs for research
- Origene shrna, sirna, 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
Clone products for research
- Applied Biological Materials (abm): Clones for MRPL44 - Starting at $45 >
- * MRPL44 as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Retro- | Protein Vector - Browse All
- * Viral Packaging Services and High Titer Production Services also available.
- Sino Biological Human cDNA Clone for MRPL44
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for MRPL44
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 |
| cytosol | 1 |
- Mitochondria (3)
- Nuclear bodies (1)
- Nucleoplasm (1)
- Plasma membrane (1)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005634 | nucleus | IBA | 21873635 |
| GO:0005654 | nucleoplasm | IDA | -- |
| GO:0005739 | mitochondrion | IEA,IDA | 28892042 |
| GO:0005743 | mitochondrial inner membrane | TAS | -- |
| GO:0005762 | mitochondrial large ribosomal subunit | IDA | 25278503 |
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
Transcripts for MRPL44 Gene
mRNA/cDNA for MRPL44 Gene
- 1 REFSEQ mRNAs :
- 10 NCBI additional mRNA sequence :
- 1 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000258383 1689 nts (view in UCSC)
CRISPR products for research
- Applied Biological Materials (abm): CRISPR Clones for MRPL44 - Starting at $85 >
- * MRPL44 CRISPR as ready-to-use vector or virus: Non-viral | Lenti- | Adeno- | AAV- | siRNA - Browse All
- * Cas9 Nucleases, Nickases, Null Mutants, and GFP tag also available.
-
OriGene CRISPR knockouts for MRPL44
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for MRPL44
-
Santa Cruz Biotechnology (SCBT) CRISPR for MRPL44
miRNA products for research
Inhibitory RNAs for research
- Origene shrna, sirna, 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
Clone products for research
- Applied Biological Materials (abm): Clones for MRPL44 - Starting at $45 >
- * MRPL44 as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Retro- | Protein Vector - Browse All
- * Viral Packaging Services and High Titer Production Services also available.
- Sino Biological Human cDNA Clone for MRPL44
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for MRPL44
Relevant External Links for MRPL44 Gene
- GeneLoc Exon Structure for
- MRPL44
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
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for MRPL44
SOURCE GeneReport for Unigene cluster for MRPL44 Gene:
Hs.203559Evidence on tissue expression from TISSUES for MRPL44 Gene
- Liver(4.3)
- Nervous system(3.6)
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 for research
-
OriGene qPCR primer pairs for MRPL44
Gene Expression Assays for research
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 30 31 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | MRPL44 30 31 |
|
OneToOne | |
| Cow (Bos Taurus) |
Mammalia | MRPL44 30 31 |
|
OneToOne | |
| Mouse (Mus musculus) |
Mammalia | Mrpl44 30 17 31 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Mrpl44 30 |
|
||
| Oppossum (Monodelphis domestica) |
Mammalia | MRPL44 31 |
|
OneToOne | |
| Platypus (Ornithorhynchus anatinus) |
Mammalia | MRPL44 31 |
|
OneToOne | |
| Chicken (Gallus gallus) |
Aves | MRPL44 30 31 |
|
OneToOne | |
| Lizard (Anolis carolinensis) |
Reptilia | MRPL44 31 |
|
OneToOne | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | mrpl44 30 |
|
||
| Str.5690 30 |
|
||||
| African clawed frog (Xenopus laevis) |
Amphibia | MGC64346 30 |
|
||
| Zebrafish (Danio rerio) |
Actinopterygii | mrpl44 30 31 |
|
OneToOne | |
| Dr.2483 30 |
|
||||
| Fruit Fly (Drosophila melanogaster) |
Insecta | mRpL44 30 31 32 |
|
OneToOne | |
| African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP001898 30 |
|
||
| Sea Squirt (Ciona savignyi) |
Ascidiacea | CSA.8292 31 |
|
OneToOne |
- Species where no ortholog for MRPL44 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Eremothecium 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 Vase (Ciona intestinalis)
- 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
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for MRPL44 Gene
| SNP ID | Clinical significance and condition | Chr 02 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs112912106 | Benign: not specified | 223,966,850(+) |
G/C NM_022915.4(MRPL44):c.828-13G>C |
INTRON | |
| rs113782060 | Uncertain Significance: not provided | 223,959,598(+) |
A/G NM_022915.4(MRPL44):c.244A>G (p.Asn82Asp) |
MISSENSE | |
| rs11546405 | Benign: not specified; not provided | 223,959,900(+) |
A/G NM_022915.4(MRPL44):c.546A>G (p.Glu182=) |
SYNONYMOUS | |
| rs11546406 | Benign: not specified. - | 223,959,767(+) |
C/Tp.Thr138Ile NM_022915.4(MRPL44):c.413C>T (p.Thr138Ile) |
MISSENSE | |
| rs13001719 | Benign: not provided | 223,963,581(+) |
G/A NM_022915.4(MRPL44):c.649-175G>A |
INTRON |
All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).
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 Assays for research
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 |
|
|
| combined oxidative phosphorylation deficiency 10 |
|
|
| neuropathy, hereditary motor and sensory, type via, with optic atrophy |
|
|
| myoclonic epilepsy associated with ragged-red fibers |
|
|
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 variants affecting the gene represented in this entry.
Additional Disease Information for MRPL44
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- Atlas
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
- Open Targets Platform
- Open Targets Platform
No data available for Genatlas for MRPL44 Gene
Publications for MRPL44 Gene
- 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 74
- Structures of the human mitochondrial ribosome in native states of assembly. (PMID: 28892042) Brown A … Ramakrishnan V (Nature structural & molecular biology 2017) 3 4
- Structure of the large ribosomal subunit from human mitochondria. (PMID: 25278503) Brown A … Ramakrishnan V (Science (New York, N.Y.) 2014) 3 4
- Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson SL … O'Brien SJ (PloS one 2010) 3 41
- Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4
ExternalLinks
Products for MRPL44 Gene
- Custom Antibody ServicesOriGene Antibodies for MRPL44
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- antibodies-online: Show 6 available MRPL44 Antibodies ranked by validation data
- Compare Top MRPL44 Antibodies
- antibodies-online: Search results for available MRPL44 related products ranked by validation data
- antibodies-online: Show 6 available MRPL44 Proteins ranked by validation data
- Compare Top MRPL44 Proteins
- Quality Products:
- Santa Cruz Biotechnology (SCBT) Antibodies for MRPL44
- Search Santa Cruz Biotechnology (SCBT) for MRPL44 siRNA/shRNA
- Santa Cruz Biotechnology (SCBT) CRISPR for MRPL44
- Custom Antibody ServicesProSci Antibodies for MRPL44
- Search for MRPL44 Proteins at ProSci
- 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® (Updated: 05-Mar-2021)
- (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) ASD
- (28) SAGE
- (29) SOURCE
- (30) HomoloGene
- (31) PanEnsembl
- (32) euGenes
- (33) SGD
- (34) FlyBase
- (35) WormBase
- (36) Pseudogene
- (37) DGV
- (38) dbSNP
- (39) GenAtlas
- (40) HGMD
- (41) GAD
- (42) BGMUT
- (43) HuGE
- (44) Atlas
- (45) GenBank
- (46) HORDE
- (47) HUGE
- (48) IMGT
- (49) Leiden
- (50) miRBase
- (51) DME
- (52) OriGene
- (53) PubMed
- (54) R&D Systems
- (55) TGDB
- (56) Tocris
- (57) Abcam
- (58) Novus Biologicals
- (59) ProSpec
- (60) Sino Biological
- (61) GenScript
- (62) Qiagen
- (63) OCA
- (64) Proteopedia
- (65) MOPED
- (66) neXtProt
- (67) Reactome
- (68) GeneGo (Thomson Reuters)
- (69) DISEASES
- (70) SIMAP
- (71) GenomeRNAi
- (72) LifeMap
- (73) miRTarBase
- (74) MalaCards
- (75) Invitrogen
- (76) BitterDB
- (77) ESI-BIO
- (78) RefSeq
- (79) BioSystems
- (80) MaxQB
- (81) IUPHAR
- (82) BioGPS
- (83) Illumina
- (84) COMPARTMENTS
- (85) HOMER
- (86) PaxDb
- (87) ApexBio
- (88) Addgene
- (89) antibodies-online
- (90) CYP
- (91) NONCODE
- (92) TreeFam
- (93) PathCards
- (94) GeneReviews
- (95) GeneTex
- (96) Taconic Biosciences
- (97) GTEx
- (98) ProteomicsDB
- (99) SCBT
- (100) DGIdb
- (101) ClinicalTrials
- (102) RVIS
- (103) SIGNOR
- (104) diseasecard
- (105) NIH Rare Diseases
- (106) Orphanet
- (107) UMLS
- (108) GTR
- (109) Disease Ontology
- (110) MedlinePlus Genetics
- (111) MeSH
- (112) MedlinePlus
- (113) CDC
- (114) NINDS
- (115) NCBI Bookshelf
- (116) ClinVar
- (117) Gene Damage Index
- (118) HPO
- (119) UDN
- (120) VISTA
- (121) FANTOM5
- (122) ENCODE
- (123) ProSci
- (124) Horizon
- (125) The Signaling Pathways Project (SPP)
- (126) IID
- (127) VectorBuilder
- (128) SNPedia
- (129) BRCA Exchange
- (130) CIViC
- (131) ProteoGenix
- (132) dbSUPER
- (133) TISSUES
- (134) Gene ORGANizer
- (135) abm
- (136) Human Protein Atlas
- (137) GWAS Catalog
- (138) Monarch Initiative
- (139) DataMed
- (140) HumanCyc
- (141) UCNEbase
- (142) EPDnew
- (143) Applied Biosystems
- (144) GlyConnect
- (145) Aminode
- (146) GeneCopoeia
- (147) GPS-Prot
- (148) RNAcentral
- (149) LncRNADisease
- (150) LOVD
- (151) miR2Disease
- (152) DiseaseEnhancer
- (153) Boster Bio
- (154) Biorbyt
- (155) Biocompare
- (156) Mastermind
- (157) CTD^2 Dashboard
- (158) CraniofacialAtlas
- (159) GeneImprint
- (160) Synthego
- (161) ENA
- (162) GtRNAdb
- (163) LncBase
- (164) LncBook
- (165) LNCipedia
- (166) Modomics
- (167) PDBe
- (168) Rfam
- (169) SILVA
- (170) snOPY
- (171) SRPDB
- (172) GENCODE
- (173) TarBase
- (174) Open Targets Platform
- (175) 5SRRNADB
- (176) snoDB
- (177) MirGeneDB