MRPL38 Gene (Protein Coding)

Mitochondrial Ribosomal Protein L38

GC17M075900
GIFtS:
36
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 MRPL38 Gene

Aliases for MRPL38 Gene

  • Mitochondrial Ribosomal Protein L38 2 3 5
  • Mitochondrial Large Ribosomal Subunit Protein ML38 3 4
  • 39S Ribosomal Protein L38, Mitochondrial 3 4
  • HSPC262 2 3
  • MRP-L38 3 4
  • MRP-L3 2 3
  • RPML3 2 3
  • MGC4810 2
  • MRPL38 5
  • L38MT 3
  • L38mt 4

External Ids for MRPL38 Gene

Previous GeneCards Identifiers for MRPL38 Gene

  • GC17U990214
  • GC17M076921
  • GC17M074358
  • GC17M074491
  • GC17M071406
  • GC17M073894
  • GC17M069320

Summaries for MRPL38 Gene

Entrez Gene Summary for MRPL38 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 MRPL38 Gene

MRPL38 (Mitochondrial Ribosomal Protein L38) is a Protein Coding gene. Diseases associated with MRPL38 include Atrial Septal Defect 3 and Pachyonychia Congenita 1. Among its related pathways are Mitochondrial translation and Organelle biogenesis and maintenance. An important paralog of this gene is PEBP1.

Additional gene information for MRPL38 Gene

No data available for CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for MRPL38 Gene

Genomics for MRPL38 Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for MRPL38 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 MRPL38 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for MRPL38

Top Transcription factor binding sites by QIAGEN in the MRPL38 gene promoter:
  • AML1a
  • CP2
  • Egr-2
  • Egr-4
  • ER-alpha
  • GATA-2
  • HTF
  • ITF-2
  • PPAR-alpha
  • Tal-1beta

Genomic Locations for MRPL38 Gene

Latest Assembly
chr17:75,898,644-75,905,093
(GRCh38/hg38)
Size:
6,450 bases
Orientation:
Minus strand

Previous Assembly
chr17:73,894,725-73,900,965
(GRCh37/hg19 by Entrez Gene)
Size:
6,241 bases
Orientation:
Minus strand

chr17:73,894,724-73,905,899
(GRCh37/hg19 by Ensembl)
Size:
11,176 bases
Orientation:
Minus strand

Genomic View for MRPL38 Gene

Genes around MRPL38 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MRPL38 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MRPL38 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for MRPL38 Gene

Proteins for MRPL38 Gene

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  1. Antibodies for research
  2. Protein products for research
  3. Assay products for research

  • Protein details for MRPL38 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96DV4-RM38_HUMAN
    Recommended name:
    39S ribosomal protein L38, mitochondrial
    Protein Accession:
    Q96DV4
    Secondary Accessions:
    • B3KN96
    • Q96Q66
    • Q9P0B9

    Protein attributes for MRPL38 Gene

    Size:
    380 amino acids
    Molecular mass:
    44597 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. mL38 is located at the central protuberance.
    SequenceCaution:
    • Sequence=AAH13311.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for MRPL38 Gene

    Alternative splice isoforms for MRPL38 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for MRPL38 Gene

Protein Expression for MRPL38 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for MRPL38 Gene

  • Ubiquitination at Lys96 and Lys107
  • Modification sites at PhosphoSitePlus

Other Protein References for MRPL38 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for MRPL38 Gene

Domains & Families for MRPL38 Gene

Gene Families for MRPL38 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Ribosomal proteins

Protein Domains for MRPL38 Gene

InterPro:
Blocks:
  • Phosphatidylethanolamine-binding protein
ProtoNet:

Suggested Antigen Peptide Sequences for MRPL38 Gene

GenScript: Design optimal peptide antigens:
  • cDNA, FLJ93795, Homo sapiens mitochondrial ribosomal protein L38 (MRPL38), nucleargene encoding mitochondrial protein, mRNA (B2R894_HUMAN)
  • cDNA FLJ13996 fis, clone Y79AA1002211, highly similar to Homo sapiens mitochondrial ribosomal protein L38 (MRPL38), nuclear gene encoding mitochondrial protein, mRNA (B3KN96_HUMAN)
  • 39S ribosomal protein L38, mitochondrial (RM38_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q96DV4

UniProtKB/Swiss-Prot:

RM38_HUMAN :
  • Belongs to the phosphatidylethanolamine-binding protein family. Mitochondrion-specific ribosomal protein mL38 subfamily.
Family:
  • Belongs to the phosphatidylethanolamine-binding protein family. Mitochondrion-specific ribosomal protein mL38 subfamily.
genes like me logo Genes that share domains with MRPL38: view

Function for MRPL38 Gene

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  2. CRISPR products for research
  3. miRNA products for research
  4. Inhibitory RNAs for research
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  6. Cell Lines for research

Phenotypes From GWAS Catalog for MRPL38 Gene

Gene Ontology (GO) - Molecular Function for MRPL38 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 28514442
genes like me logo Genes that share ontologies with MRPL38: view
genes like me logo Genes that share phenotypes with MRPL38: view

Animal Models for research

miRNA for MRPL38 Gene

miRTarBase miRNAs that target MRPL38

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MRPL38

No data available for Molecular function , Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for MRPL38 Gene

Localization for MRPL38 Gene

Subcellular locations from UniProtKB/Swiss-Prot for MRPL38 Gene

Mitochondrion.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for MRPL38 gene
Compartment Confidence
mitochondrion 5
peroxisome 1
nucleus 1
cytosol 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Mitochondria (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for MRPL38 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IEA,IDA 28892042
GO:0005743 mitochondrial inner membrane TAS --
GO:0005762 mitochondrial large ribosomal subunit IBA,IDA 25278503
GO:0005840 ribosome IEA --
genes like me logo Genes that share ontologies with MRPL38: view

Pathways & Interactions for MRPL38 Gene

genes like me logo Genes that share pathways with MRPL38: view

Gene Ontology (GO) - Biological Process for MRPL38 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0070125 mitochondrial translational elongation TAS --
GO:0070126 mitochondrial translational termination TAS --
genes like me logo Genes that share ontologies with MRPL38: view

No data available for SIGNOR curated interactions for MRPL38 Gene

Drugs & Compounds for MRPL38 Gene

Products:

  1. Drug products for research
No Compound Related Data Available

Transcripts for MRPL38 Gene

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  1. CRISPR products for research
  2. miRNA products for research
  3. Inhibitory RNAs for research
  4. Clone products for research

mRNA/cDNA for MRPL38 Gene

1 REFSEQ mRNAs :
6 NCBI additional mRNA sequence :
17 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MRPL38

Alternative Splicing Database (ASD) splice patterns (SP) for MRPL38 Gene

No ASD Table

Relevant External Links for MRPL38 Gene

GeneLoc Exon Structure for
MRPL38

Expression for MRPL38 Gene

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  1. Primer products for research
  2. Gene Expression Assays for research

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for MRPL38 Gene

mRNA expression in normal human tissues for MRPL38 Gene
mRNA expression by BioGPS for MRPL38 GenemRNA expression by GTEx for MRPL38 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

  • Testis (Reproductive System)

Protein differential expression in normal tissues from HIPED for MRPL38 Gene

This gene is overexpressed in Lung (22.3), Liver (14.8), and Pancreas (7.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for MRPL38 Gene



Protein tissue co-expression partners for MRPL38 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for MRPL38

SOURCE GeneReport for Unigene cluster for MRPL38 Gene:

Hs.442609

Evidence on tissue expression from TISSUES for MRPL38 Gene

  • Nervous system(4.3)
  • Intestine(4.3)
  • Blood(4.2)
  • Pancreas(3.1)
  • Lung(2.7)
  • Skin(2.1)
genes like me logo Genes that share expression patterns with MRPL38: view

Primer products for research

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for MRPL38 Gene

Orthologs for MRPL38 Gene

This gene was present in the common ancestor of animals.

Orthologs for MRPL38 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
 Mammalia MRPL38 30 31
  • 99.21 (n)
 OneToOne
Dog
(Canis familiaris)
 Mammalia MRPL38 30 31
  • 87.46 (n)
 OneToOne
Cow
(Bos Taurus)
 Mammalia MRPL38 30 31
  • 86.58 (n)
 OneToOne
Mouse
(Mus musculus)
 Mammalia Mrpl38 30 17 31
  • 86.32 (n)
 OneToOne
Rat
(Rattus norvegicus)
 Mammalia Mrpl38 30
  • 85.53 (n)
Oppossum
(Monodelphis domestica)
 Mammalia MRPL38 31
  • 73 (a)
 OneToOne
Platypus
(Ornithorhynchus anatinus)
 Mammalia MRPL38 31
  • 73 (a)
 OneToOne
Chicken
(Gallus gallus)
 Aves MRPL38 30 31
  • 65.34 (n)
 OneToOne
Lizard
(Anolis carolinensis)
 Reptilia MRPL38 31
  • 62 (a)
 OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
 Amphibia mrpl38 30
  • 62.6 (n)
Str.11091 30
Zebrafish
(Danio rerio)
 Actinopterygii mrpl38 30 31
  • 58.72 (n)
 OneToOne
Dr.11989 30
Rainbow Trout
(Oncorhynchus mykiss)
 Actinopterygii Omy.13875 30
Fruit Fly
(Drosophila melanogaster)
 Insecta mRpL38 30 31
  • 54.17 (n)
 OneToOne
African malaria mosquito
(Anopheles gambiae)
 Insecta AgaP_AGAP000652 30
  • 53.38 (n)
Worm
(Caenorhabditis elegans)
 Secernentea mrpl-38 31
  • 18 (a)
 OneToOne
Sea Squirt
(Ciona savignyi)
 Ascidiacea -- 31
  • 34 (a)
 OneToOne
Species where no ortholog for MRPL38 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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)
  • 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)

Evolution for MRPL38 Gene

ENSEMBL:
Gene Tree for MRPL38 (if available)
TreeFam:
Gene Tree for MRPL38 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for MRPL38: view image

Paralogs for MRPL38 Gene

Paralogs for MRPL38 Gene

(2) SIMAP similar genes for MRPL38 Gene using alignment to 3 proteins:

  • RM38_HUMAN
  • B2R894_HUMAN
  • B3KN96_HUMAN
genes like me logo Genes that share paralogs with MRPL38: view

Variants for MRPL38 Gene

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  1. SNP Genotyping and Copy Number Assays for research

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for MRPL38 Gene

SNP ID Clinical significance and condition Chr 17 pos Variation AA Info Type
rs34136221 - p.Arg99Trp
rs9191 - p.Asp371His

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for MRPL38 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for MRPL38 Gene

Variant ID Type Subtype PubMed ID
nsv1127598 CNV deletion 24896259
nsv833545 CNV gain 17160897

Variation tolerance for MRPL38 Gene

Residual Variation Intolerance Score: 93.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.53; 64.74% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for MRPL38 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
MRPL38

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MRPL38 Gene

Disorders for MRPL38 Gene

MalaCards: The human disease database

(2) MalaCards diseases for MRPL38 Gene - From: COP

Disorder Aliases PubMed IDs
atrial septal defect 3
  • asd3
pachyonychia congenita 1
  • pc1
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for MRPL38

Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with MRPL38: view

No data available for UniProtKB/Swiss-Prot and Genatlas for MRPL38 Gene

Publications for MRPL38 Gene

  1. 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
  2. Structures of the human mitochondrial ribosome in native states of assembly. (PMID: 28892042) Brown A … Ramakrishnan V (Nature structural & molecular biology 2017) 3 4
  3. Structure of the large ribosomal subunit from human mitochondria. (PMID: 25278503) Brown A … Ramakrishnan V (Science (New York, N.Y.) 2014) 3 4
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4
  5. 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

ExternalLinks

View latest publications for MRPL38 gene in Mastermind

Products for MRPL38 Gene

Sources for MRPL38 Gene