Aliases for MRPL39 Gene
Aliases for MRPL39 Gene
External Ids for MRPL39 Gene
- HGNC: 14027
- Entrez Gene: 54148
- Ensembl: ENSG00000154719
- OMIM: 611845
- UniProtKB: Q9NYK5
Previous GeneCards Identifiers for MRPL39 Gene
- GC21M023536
- GC21M025879
- GC21M026957
- GC21M012361
Summaries for MRPL39 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. Two transcript variants encoding distinct isoforms have been described. A pseudogene corresponding to this gene is found on chromosome 5q. [provided by RefSeq, Jul 2008]
GeneCards Summary for MRPL39 Gene
MRPL39 (Mitochondrial Ribosomal Protein L39) is a Protein Coding gene. Among its related pathways are Organelle biogenesis and maintenance and Mitochondrial translation. Gene Ontology (GO) annotations related to this gene include nucleotide binding. An important paralog of this gene is TARSL2.
Additional gene information for MRPL39 Gene
No data available for CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MRPL39 Gene
Genomics for MRPL39 Gene
GeneHancer (GH) Regulatory Elements for MRPL39 Gene
Promoters and enhancers for MRPL39 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 |
|---|---|---|---|---|---|---|---|---|---|---|
| GH21J025606 | Promoter/Enhancer | 2.1 | EPDnew Ensembl ENCODE | 678 | +0.1 | 127 | 2.4 | ZFP64 DMAP1 IRF4 YY1 ZNF213 E2F8 ZNF143 ZNF263 SP3 ZC3H11A | MRPL39 GABPA RPL13AP7 LINC00515 | |
| GH21J026021 | Promoter | 0.5 | EPDnew | 650 | -414.1 | -414112 | 0.1 | MRPL39 GC21P025992 ENSG00000224541 APP | ||
| GH21J025638 | Promoter/Enhancer | 1.8 | EPDnew Ensembl ENCODE | 25.3 | -31.8 | -31833 | 2.6 | RB1 ZNF335 GLIS2 ZNF366 ZNF143 BCLAF1 CREM EGR2 SMARCA5 SP3 | JAM2 MRPL39 GABPA ATP5PF RNGTTP1 | |
| GH21J025561 | Promoter/Enhancer | 2 | EPDnew Ensembl ENCODE dbSUPER | 20.5 | +45.2 | 45164 | 3 | SMAD1 RB1 STAT5A BATF RAD21 KLF5 IRF4 ZNF207 ZNF143 ATF7 | MIR155HG JAM2 MRPL39 GC21P025574 | |
| GH21J025570 | Enhancer | 1.2 | Ensembl ENCODE dbSUPER | 27.4 | +34.6 | 34617 | 4.8 | HDGF HDAC1 PKNOX1 ATF1 RB1 STAT5A BATF IRF4 EGR1 ATF7 | GC21P025574 MIR155 MRPL39 MIR155HG |
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)
GeneHancers around MRPL39 on UCSC Golden Path with GeneCards custom track
Regulatory Element Products
Genomic Locations for MRPL39 Gene
Genomic Locations for MRPL39 Gene
- chr21:25,585,656-25,607,846
- (GRCh38/hg38)
- Size:
- 22,191 bases
- Orientation:
- Minus strand
- chr21:26,957,968-26,979,829
- (GRCh37/hg19)
- Size:
- 21,862 bases
- Orientation:
- Minus strand
Genomic View for MRPL39 Gene
Genes around MRPL39 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 21q21.3 by Entrez Gene
- 21q21.3 by HGNC
- 21q21.3 by Ensembl
MRPL39 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 MRPL39 Gene
Proteins for MRPL39 Gene
-
Protein details for MRPL39 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q9NYK5-RM39_HUMAN
- Recommended name:
- 39S ribosomal protein L39, mitochondrial
- Protein Accession:
- Q9NYK5
- C9JYA5
- Q32Q74
- Q5QTR3
- Q96Q65
- Q9BSQ7
- Q9BZV6
- Q9NX44
Protein attributes for MRPL39 Gene
- Size:
- 338 amino acids
- Molecular mass:
- 38712 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.
- SequenceCaution:
-
- Sequence=AAF44696.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=AAQ13505.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=BAA91177.1; Type=Frameshift; Positions=72; Evidence={ECO:0000305};
Three dimensional structures from OCA and Proteopedia for MRPL39 Gene
Protein Expression for MRPL39 Gene
Post-translational modifications for MRPL39 Gene
Other Protein References for MRPL39 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- Novus Biologicals Antibodies for MRPL39
-
Abcam antibodies for MRPL39
- Invitrogen Antibodies for MRPL39 (AFLGC-MRPL39)
- GeneTex MRPL39 Antibody for MRPL39
-
Santa Cruz Biotechnology (SCBT) Antibodies for MRPL39
Protein Products
-
OriGene Purified Proteins for MRPL39
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- antibodies-online: Search results for 4 available MRPL39 Proteins ranked by validation data
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-
Quality Products:
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-
Abcam proteins for MRPL39
Assay Products
No data available for DME Specific Peptides for MRPL39 Gene
Domains & Families for MRPL39 Gene
Gene Families for MRPL39 Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Predicted intracellular proteins
- Ribosomal proteins
Protein Domains for MRPL39 Gene
- InterPro:
- ProtoNet:
Suggested Antigen Peptide Sequences for MRPL39 Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
Q9NYK5UniProtKB/Swiss-Prot:
RM39_HUMAN :- Belongs to the mitochondrion-specific ribosomal protein mL39 family.
- Family:
-
- Belongs to the mitochondrion-specific ribosomal protein mL39 family.
Function for MRPL39 Gene
Phenotypes From GWAS Catalog for MRPL39 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000166 | nucleotide binding | IEA | -- |
| GO:0003723 | RNA binding | HDA | 22658674 |
| GO:0004827 | proline-tRNA ligase activity | IBA | -- |
Phenotypes for MRPL39 Gene
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
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-
CRISPR Products
-
OriGene CRISPR knockouts for MRPL39
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- Overview of 102 available MRPL39 gene related products
- Applied Biological Materials CRISPR for MRPL39
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for MRPL39
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miRNA for MRPL39 Gene
- miRTarBase miRNAs that target MRPL39
miRNA Products
Inhibitory RNA Products
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- genomics-online: shRNA clones - Search results for 102 available MRPL39 gene related products
- Overview of 102 available MRPL39 gene related products
Clone Products
- Sino Biological Human cDNA Clone for MRPL39
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for MRPL39
- Applied Biological Materials Clones for MRPL39
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
No data available for Molecular function , Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for MRPL39 Gene
Localization for MRPL39 Gene
Subcellular locations from UniProtKB/Swiss-Prot for MRPL39 Gene
- Mitochondrion.
| Compartment | Confidence |
|---|---|
| mitochondrion | 5 |
| cytosol | 2 |
| nucleus | 1 |
| endoplasmic reticulum | 1 |
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005739 | mitochondrion | IBA,IEA | -- |
| GO:0005743 | mitochondrial inner membrane | TAS | -- |
| GO:0005761 | mitochondrial ribosome | NAS | 11167009 |
| GO:0005762 | mitochondrial large ribosomal subunit | IDA | 25278503 |
| GO:0005840 | ribosome | IEA | -- |
No data available for Subcellular locations from the Human Protein Atlas (HPA) for MRPL39 Gene
Pathways & Interactions for MRPL39 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Mitochondrial translation | ||
| 2 | Organelle biogenesis and maintenance | ||
Pathways by source for MRPL39 Gene
Interacting Proteins for MRPL39 Gene
GPS-Prot Interaction Network for MRPL39
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0006433 | prolyl-tRNA aminoacylation | IBA | -- |
| GO:0070125 | mitochondrial translational elongation | TAS | -- |
| GO:0070126 | mitochondrial translational termination | TAS | -- |
No data available for SIGNOR curated interactions for MRPL39 Gene
Transcripts for MRPL39 Gene
mRNA/cDNA for MRPL39 Gene
- (4) REFSEQ mRNAs :
- (8) Additional mRNA sequences :
- (171) Selected AceView cDNA sequences:
- (3) Ensembl transcripts including schematic representations, and UCSC links where relevant :
-
- ENST00000352957 1110 bps (uc002ylo.4)
- ENST00000307301 1199 bps (uc002yln.4)
- ENST00000419219 900 bps (uc061zha.1)
Unigene Clusters for MRPL39 Gene
- Mitochondrial ribosomal protein L39:
- Representative Sequences:
CRISPR Products
-
OriGene CRISPR knockouts for MRPL39
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- Overview of 102 available MRPL39 gene related products
- Applied Biological Materials CRISPR for MRPL39
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for MRPL39
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miRNA Products
Inhibitory RNA Products
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- Overview of 102 available MRPL39 gene related products
Clone Products
- Sino Biological Human cDNA Clone for MRPL39
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-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
| ExUns: | 1 | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5a | · | 5b | ^ | 6a | · | 6b | ^ | 7 | ^ | 8 | ^ | 9 | ^ | 10 | ^ | 11 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | |||||||||||||||||||||||||
| SP2: | - | ||||||||||||||||||||||||
| SP3: | - |
Expression for MRPL39 Gene
This gene is overexpressed in Breast (37.0) and Peripheral blood mononuclear cells (8.5).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for MRPL39 Gene
- Elite partner
NURSA nuclear receptor signaling pathways regulating expression of MRPL39 Gene:
MRPL39SOURCE GeneReport for Unigene cluster for MRPL39 Gene:
Hs.420696mRNA Expression by UniProt/SwissProt for MRPL39 Gene:
Q9NYK5-RM39_HUMAN
Tissue specificity:
Isoform 1 is ubiquitously expressed. Isoform 2 is heart-specific.
Evidence on tissue expression from TISSUES for MRPL39 Gene
- Heart(4.3)
- Muscle(4.3)
Primer Products
-
OriGene qPCR primer pairs for MRPL39
-
OriGene qPCR primer pairs and template standards for MRPL39
- genomics-online: primer clones - Search results for 102 available MRPL39 gene related products
- Overview of 102 available MRPL39 gene related products
Gene Expression Assay Products
No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for MRPL39 Gene
Orthologs for MRPL39 Gene
This gene was present in the common ancestor of animals and fungi.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | MRPL39 34 33 |
|
OneToOne | |
| dog (Canis familiaris) |
Mammalia | MRPL39 34 33 |
|
OneToOne | |
| cow (Bos Taurus) |
Mammalia | MRPL39 34 33 |
|
OneToOne | |
| mouse (Mus musculus) |
Mammalia | Mrpl39 16 34 33 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Mrpl39 33 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | MRPL39 34 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | MRPL39 34 33 |
|
OneToOne | |
| lizard (Anolis carolinensis) |
Reptilia | MRPL39 34 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | mrpl39 33 |
|
||
| Str.11934 33 |
|
||||
| African clawed frog (Xenopus laevis) |
Amphibia | Xl.16628 33 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | mrpl39 34 33 |
|
OneToOne | |
| fruit fly (Drosophila melanogaster) |
Insecta | mRpL39 34 33 |
|
OneToOne | |
| mRpL5 35 |
|
|
|||
| African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP010644 33 |
|
||
| worm (Caenorhabditis elegans) |
Secernentea | tars-1 34 |
|
OneToMany | |
| baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | THS1 34 |
|
OneToMany | |
| sea squirt (Ciona savignyi) |
Ascidiacea | -- 34 |
|
OneToOne |
- Species where no ortholog for MRPL39 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)
- 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)
- platypus (Ornithorhynchus anatinus)
- 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)
Evolution for MRPL39 Gene
- ENSEMBL:
- Gene Tree for MRPL39 (if available)
- TreeFam:
- Gene Tree for MRPL39 (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for MRPL39: view image
Paralogs for MRPL39 Gene
Variants for MRPL39 Gene
| SNP ID | Clin | Chr 21 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs1000113119 | -- | 25,594,777(-) | A/T | intron_variant | |
| rs1000418789 | -- | 25,594,498(-) | C/T | intron_variant | |
| rs1000453628 | -- | 25,596,442(-) | C/A | intron_variant | |
| rs1000618450 | -- | 25,590,003(-) | T/C | intron_variant | |
| rs1000668971 | -- | 25,588,050(-) | G/A | intron_variant |
Residual Variation Intolerance Score:
73.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
2.11;
38.53% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for MRPL39 Gene
- SNPedia medical, phenotypic, and genealogical associations of SNPs for
- MRPL39
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MRPL39 Gene
Disorders for MRPL39 Gene
Additional Disease Information for MRPL39
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
No disorders were found for MRPL39 Gene.
No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for MRPL39 Gene
Publications for MRPL39 Gene
- The human mitochondrial ribosomal protein genes: mapping of 54 genes to the chromosomes and implications for human disorders. (PMID: 11543634) Kenmochi N … Tanaka T (Genomics 2001) 2 3 4 58
- Structure of the large ribosomal subunit from human mitochondria. (PMID: 25278503) Brown A … Ramakrishnan V (Science (New York, N.Y.) 2014) 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
Products for MRPL39 Gene
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- Quality Products:
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- Overview of 102 available MRPL39 gene related products
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- Overview of 102 available MRPL39 gene related products
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- Overview of 102 available MRPL39 gene related products
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- Overview of 102 available MRPL39 gene related products
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Sources for MRPL39 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
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