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. Among its related pathways are Organelle biogenesis and maintenance and Mitochondrial translation. Gene Ontology (GO) annotations related to this gene include 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.
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 , fRNAdb sequence ontologies and piRNA Summary for MRPL44 Gene
Genomics for MRPL44 Gene
GeneHancer (GH) Regulatory Elements for MRPL44 Gene
Promoters and enhancers for MRPL44 Gene
| GeneHancer (GH) Identifier | GH Type | GH Score |
GH Sources | Gene Association Score | Total Score | TSS distance (kb) | Number of Genes Away | Size (kb) | Transcription Factor Binding Sites |
Gene Targets |
|---|---|---|---|---|---|---|---|---|---|---|
| GH02J223956 | Promoter/Enhancer | 2.1 | EPDnew Ensembl ENCODE | 657.9 | +6.6 | 6555 | 2.7 | MLX ZFP64 FEZF1 DMAP1 IRF4 YY1 SLC30A9 ZNF213 E2F8 ZNF143 | MRPL44 WDFY1 KCNE4 SCG2 LOC100419814 PIR34481 | |
| GH02J223951 | Enhancer | 0.6 | ENCODE | 657.5 | +1.6 | 1562 | 1 | HDGF PKNOX1 POLR2A ELF1 RUNX3 GABPA EZH2 THAP11 | MRPL44 PIR34481 | |
| GH02J223950 | Enhancer | 0.4 | Ensembl | 656.8 | +0.0 | 11 | 0.6 | FOXA2 CEBPA SCRT2 | MRPL44 PIR34481 | |
| GH02J223893 | Enhancer | 1.6 | FANTOM5 Ensembl ENCODE dbSUPER | 15.7 | -54.9 | -54923 | 4.8 | STAT5A BMI1 BATF IRF4 ZNF366 SCRT2 ATF7 FOS ETV6 BCLAF1 | WDFY1 MRPL44 GC02P223865 | |
| GH02J223860 | Enhancer | 1.1 | Ensembl ENCODE | 18.3 | -89.5 | -89521 | 2.6 | FOXA2 MLX ARID4B SIN3A RAD21 SLC30A9 ZNF143 SMARCC2 CREM THAP11 | MRPL44 AP1S3 GC02P223865 WDFY1 |
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data dump
GeneHancers around MRPL44 on UCSC Golden Path with GeneCards custom track
- Top Transcription factor binding sites by QIAGEN in the MRPL44 gene promoter:
-
- CUTL1
- ZID
- c-Jun
- c-Fos
- AP-1
- GATA-1
- c-Myb
- Ik-1
- NRF-2
- HNF-4alpha1
Regulatory Element Products
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 Entrez Gene
- 2q36.1 by HGNC
- 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). 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
Post-translational modifications for MRPL44 Gene
Other Protein References for MRPL44 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- Novus Biologicals Antibodies for MRPL44
- Invitrogen Antibodies for MRPL44
- GeneTex MRPL44 Antibody for MRPL44
-
Boster Bio Antibodies for MRPL44
-
Santa Cruz Biotechnology (SCBT) Antibodies for MRPL44
- Sino Biological Antibodies for MRPL44
Protein Products
-
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: Search results for 6 available MRPL44 Proteins ranked by validation data
- Compare Top MRPL44 Proteins
-
Quality Products:
- Search GeneTex for Proteins for MRPL44
-
Abcam proteins for MRPL44
Assay Products
No data available for DME Specific Peptides for MRPL44 Gene
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:
- ProtoNet:
Suggested Antigen Peptide Sequences for MRPL44 Gene
- GenScript: Design optimal peptide antigens:
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 | -- |
| GO:0004518 | nuclease activity | IEA | -- |
| GO:0004519 | endonuclease activity | IEA | -- |
| GO:0004525 | ribonuclease III activity | IBA | -- |
Phenotypes for MRPL44 Gene
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
- Cyagen custom Knockout/knockin (KOKI) mouse models for MRPL44
-
CRISPR Products
-
OriGene CRISPR knockouts for MRPL44
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for MRPL44
- genomics-online: gRNA clones - Search results for 107 available MRPL44 gene related products
- Overview of 107 available MRPL44 gene related products
- Applied Biological Materials CRISPR for MRPL44
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for MRPL44
- GenScript: Design CRISPR guide RNA sequences 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 shrna, sirna, and RNAi products in human, mouse, rat for MRPL44
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- Overview of 107 available MRPL44 gene related products
Clone Products
- Sino Biological Human cDNA Clone for MRPL44
- VectorBuilder custom plasmid, inducible vectors for MRPL44
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for MRPL44
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for MRPL44
- Applied Biological Materials Clones for MRPL44
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
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 | IDA | -- |
| GO:0005739 | mitochondrion | IDA,IEA | -- |
| 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
MINT
STRING
UniProtKB
IID
GPS-Prot Interaction Network for MRPL44
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0006396 | RNA processing | IBA | -- |
| GO:0030422 | production of siRNA involved in RNA interference | IBA | -- |
| GO:0031053 | primary miRNA processing | IBA | -- |
| GO:0031054 | pre-miRNA processing | IBA | -- |
| 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
- (2) REFSEQ mRNAs :
- (4) Additional mRNA sequences :
- (178) Selected AceView cDNA sequences:
- (1) Ensembl transcripts including schematic representations, and UCSC links where relevant :
-
- ENST00000258383 1748 bps (uc002vnr.4)
Unigene Clusters for MRPL44 Gene
- Mitochondrial ribosomal protein L44:
- Representative Sequences:
CRISPR Products
-
OriGene CRISPR knockouts for MRPL44
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for MRPL44
- genomics-online: gRNA clones - Search results for 107 available MRPL44 gene related products
- Overview of 107 available MRPL44 gene related products
- Applied Biological Materials CRISPR for MRPL44
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for MRPL44
- GenScript: Design CRISPR guide RNA sequences for MRPL44
miRNA Products
Inhibitory RNA Products
- 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
- genomics-online: shRNA clones - Search results for 107 available MRPL44 gene related products
- Overview of 107 available MRPL44 gene related products
Clone Products
- Sino Biological Human cDNA Clone for MRPL44
- VectorBuilder custom plasmid, inducible vectors for MRPL44
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for MRPL44
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for MRPL44
- Applied Biological Materials Clones for MRPL44
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
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 results for 107 available MRPL44 gene related products
- Overview of 107 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 34 33 |
|
OneToOne | |
| dog (Canis familiaris) |
Mammalia | MRPL44 34 33 |
|
OneToOne | |
| cow (Bos Taurus) |
Mammalia | MRPL44 34 33 |
|
OneToOne | |
| mouse (Mus musculus) |
Mammalia | Mrpl44 16 34 33 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Mrpl44 33 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | MRPL44 34 |
|
OneToOne | |
| platypus (Ornithorhynchus anatinus) |
Mammalia | MRPL44 34 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | MRPL44 34 33 |
|
OneToOne | |
| lizard (Anolis carolinensis) |
Reptilia | MRPL44 34 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | mrpl44 33 |
|
||
| Str.5690 33 |
|
||||
| African clawed frog (Xenopus laevis) |
Amphibia | MGC64346 33 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | mrpl44 34 33 |
|
OneToOne | |
| Dr.2483 33 |
|
||||
| fruit fly (Drosophila melanogaster) |
Insecta | mRpL44 34 35 33 |
|
OneToOne | |
| African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP001898 33 |
|
||
| sea squirt (Ciona savignyi) |
Ascidiacea | CSA.8292 34 |
|
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 |
|---|---|---|---|---|---|
| rs143697995 | conflicting-interpretations-of-pathogenicity, 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 | |
| rs144037629 | likely-pathogenic, not provided | 223,959,667(+) | C/T | 5_prime_UTR_variant, coding_sequence_variant, missense_variant | |
| rs201475876 | likely-benign, not specified | 223,957,502(+) | G/A/C/T | coding_sequence_variant, intron_variant, missense_variant, synonymous_variant | |
| rs534596036 | likely-benign, not specified | 223,957,510(+) | A/G | coding_sequence_variant, intron_variant, missense_variant | |
| rs775681684 | likely-benign, not specified | 223,963,908(+) | G/A | coding_sequence_variant, synonymous_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
(1) MalaCards diseases for MRPL44 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| combined oxidative phosphorylation deficiency 16 |
|
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
- Structure of the large ribosomal subunit from human mitochondria. (PMID: 25278503) Brown A … Ramakrishnan V (Science (New York, N.Y.) 2014) 3 4 58
- 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 58
- Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson SL … O'Brien SJ (PloS one 2010) 3 44 58
- Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
- The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 58
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- GenScript Custom Peptide Services for MRPL44
- Sino Biological Human cDNA Clone for MRPL44
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- Sino Biological Antibodies for MRPL44
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- Epitope Tag Antibodies & Reporter Protein Antibodies
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- Novus Biologicals Antibodies for MRPL44
- Novus Biologicals lysates and proteins for MRPL44
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- Cyagen custom Knockout/knockin (KOKI) mouse models for MRPL44
- VectorBuilder custom plasmid, inducible vectors for MRPL44
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for MRPL44
- VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- antibodies-online: Search results for 19 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: Search results for 6 available MRPL44 Proteins ranked by validation data
- Compare Top MRPL44 Proteins
- Quality Products:
- GeneTex MRPL44 Antibody for MRPL44
- Search GeneTex for Proteins for MRPL44
- Santa Cruz Biotechnology (SCBT) Antibodies for MRPL44
- Search Santa Cruz Biotechnology (SCBT) for MRPL44 siRNA/shRNA
- Santa Cruz Biotechnology (SCBT) CRISPR for MRPL44
- genomics-online: cdna clones - Search results for 107 available MRPL44 gene related products
- Overview of 107 available MRPL44 gene related products
- orf clones - Search results for 107 available MRPL44 gene related products
- Overview of 107 available MRPL44 gene related products
- genomics-online: gRNA clones - Search results for 107 available MRPL44 gene related products
- Overview of 107 available MRPL44 gene related products
- genomics-online: primer clones - Search results for 107 available MRPL44 gene related products
- Overview of 107 available MRPL44 gene related products
- genomics-online: shRNA clones - Search results for 107 available MRPL44 gene related products
- Overview of 107 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
- GeneCopoeia 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) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) GO
- (12) TrEMBL
- (13) InterPro
- (14) ProtoNet
- (15) Blocks
- (16) MGI
- (17) IUBMB
- (18) KEGG
- (19) MINT
- (20) STRING
- (21) IntAct
- (22) Novoseek
- (23) PharmGKB
- (24) DrugBank
- (25) HMDB
- (26) UniGene
- (27) AceView
- (28) ASD
- (29) ECgene
- (30) GeneAnnot
- (31) CGAP SAGE
- (32) SOURCE
- (33) HomoloGene
- (34) PanEnsembl
- (35) euGenes
- (36) SGD
- (37) FlyBase
- (38) WormBase
- (39) Pseudogene
- (40) DGV
- (41) dbSNP
- (42) GenAtlas
- (43) HGMD
- (44) GAD
- (45) BGMUT
- (46) HuGE
- (47) Atlas
- (48) Cell Signaling Technology
- (49) GenBank
- (50) H-invDB
- (51) HORDE
- (52) HUGE
- (53) IMGT
- (54) Leiden
- (55) miRBase
- (56) DME
- (57) OriGene
- (58) PubMed
- (59) R&D Systems
- (60) TGDB
- (61) Tocris
- (62) Abcam
- (63) Novus Biologicals
- (64) ProSpec
- (65) Sino Biological
- (66) GenScript
- (67) Qiagen
- (68) Cloud-Clone Corp.
- (69) OCA
- (70) Proteopedia
- (71) MOPED
- (72) neXtProt
- (73) Reactome
- (74) GeneGo (Thomson Reuters)
- (75) fRNAdb
- (76) DISEASES
- (77) SIMAP
- (78) GenomeRNAi
- (79) LifeMap
- (80) miRTarBase
- (81) MalaCards
- (82) Invitrogen
- (83) BitterDB
- (84) Vector BioLabs
- (85) ESI-BIO
- (86) RefSeq
- (87) BioSystems
- (88) MaxQB
- (89) IUPHAR
- (90) BioGPS
- (91) Illumina
- (92) COMPARTMENTS
- (93) HOMER
- (94) PaxDb
- (95) ApexBio
- (96) Addgene
- (97) antibodies-online
- (98) CYP
- (99) NONCODE
- (100) SwitchGear Genomics
- (101) TreeFam
- (102) PathCards
- (103) GeneReviews
- (104) GeneTex
- (105) Taconic Biosciences
- (106) GTEx
- (107) ProteomicsDB
- (108) SCBT
- (109) DGIdb
- (110) ClinicalTrials
- (111) FDA Approved Drugs
- (112) RVIS
- (113) SIGNOR
- (114) diseasecard
- (115) NIH Rare Diseases
- (116) Orphanet
- (117) UMLS
- (118) GTR
- (119) Disease Ontology
- (120) Genetics Home Reference
- (121) MeSH
- (122) MedlinePlus
- (123) CDC
- (124) NINDS
- (125) NCBI Bookshelf
- (126) ClinVar
- (127) Gene Damage Index
- (128) ViGene Biosciences
- (129) HPO
- (130) UDN
- (131) VISTA
- (132) FANTOM5
- (133) ENCODE
- (134) ProSci
- (135) Horizon
- (136) NURSA
- (137) IID
- (138) Cyagen
- (139) VectorBuilder
- (140) SNPedia
- (141) BRCA Exchange
- (142) St John's Lab
- (143) CIViC
- (144) ProteoGenix
- (145) dbSUPER
- (146) TISSUES
- (147) Gene ORGANizer
- (148) abm
- (149) CrownBio
- (150) Human Protein Atlas
- (151) GWAS Catalog
- (152) Monarch Initiative
- (153) DataMed
- (154) HumanCyc
- (155) genomics-online
- (156) UCNEbase
- (157) EPDnew
- (158) Applied Biosystems
- (159) GlyConnect
- (160) Aminode
- (161) GeneCopoeia
- (162) GPS-Prot
- (163) RNACentral
- (164) LncRNADisease
- (165) LOVD
- (166) miR2Disease
- (167) DiseaseEnhancer
- (168) Boster Bio
- (169) Biorbyt