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 MRPL28 Gene

Aliases for MRPL28 Gene

  • Mitochondrial Ribosomal Protein L28 2 3 5
  • Melanoma-Associated Antigen Recognised By Cytotoxic T Lymphocytes 2 3
  • Melanoma-Associated Antigen Recognized By T-Lymphocytes 3 4
  • Mitochondrial Large Ribosomal Subunit Protein BL28m 3 4
  • 39S Ribosomal Protein L28, Mitochondrial 3 4
  • Melanoma Antigen P15 3 4
  • MRP-L28 3 4
  • MAAT1 3 4
  • L28mt 3 4
  • P15 2 3
  • MRPL28 5

External Ids for MRPL28 Gene

Previous HGNC Symbols for MRPL28 Gene

  • MAAT1

Previous GeneCards Identifiers for MRPL28 Gene

  • GC00U990874
  • GC16M000438

Summaries for MRPL28 Gene

Entrez Gene Summary for MRPL28 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, a part of which was originally isolated by its ability to recognize tyrosinase in an HLA-A24-restricted fashion. [provided by RefSeq, Jul 2008]

GeneCards Summary for MRPL28 Gene

MRPL28 (Mitochondrial Ribosomal Protein L28) is a Protein Coding gene. Diseases associated with MRPL28 include Pancreatic Serous Cystadenoma and Megalencephalic Leukoencephalopathy With Subcortical Cysts 1. Among its related pathways are Mitochondrial translation and Viral mRNA Translation. Gene Ontology (GO) annotations related to this gene include structural constituent of ribosome.

Gene Wiki entry for MRPL28 Gene

No data available for CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for MRPL28 Gene

Genomics for MRPL28 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for MRPL28 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
GH16J000369 Promoter/Enhancer 1.8 EPDnew Ensembl ENCODE CraniofacialAtlas 273.9 +0.8 775 2.3 SP1 ZNF207 MYC ZNF600 ZNF580 ZIC2 ZBTB10 ELK1 TARDBP ETS1 MRPL28 lnc-MRPL28-2 PGAP6 WDR90 AXIN1
GH16J000371 Enhancer 0.4 ENCODE 250.7 -0.4 -412 0.1 ZIC2 SCRT1 SCRT2 MRPL28 lnc-MRPL28-2 PGAP6 LOC100134368
GH16J000378 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 19.4 -10.5 -10450 6.1 ZNF600 ZIC2 CHD4 ZBTB10 MXD4 KLF11 ETS1 ZNF341 ZFP64 ZNF217 PGAP6 LOC100134368 RPL23AP5 ENSG00000261505 MRPL28 JMJD8 WDR90 RHOT2 ENSG00000228779 MPG
GH16J000351 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 8.9 +17.4 17390 5.8 MYC ZNF600 NCOR1 IKZF1 ZNF592 POLR2A ZIC2 NONO CTCF SMAD5 AXIN1 PGAP6 UBE2I CHTF18 ENSG00000268836 WASH4P WDR24 LUC7L ENSG00000269482 WDR90
GH16J000362 Enhancer 1.1 Ensembl ENCODE 11.5 +8.5 8488 2.8 ZNF654 ZNF600 ZMYM3 ZNF10 ZIC2 CTCF REST DEK ZFP64 SIN3A PGAP6 MRPL28 ARHGDIG AXIN1 lnc-MRPL28-2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around MRPL28 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for MRPL28

Top Transcription factor binding sites by QIAGEN in the MRPL28 gene promoter:
  • AP-1
  • c-Fos
  • c-Jun
  • COUP

Genomic Locations for MRPL28 Gene

Latest Assembly
chr16:366,969-371,289
(GRCh38/hg38)
Size:
4,321 bases
Orientation:
Minus strand

Previous Assembly
chr16:416,969-420,538
(GRCh37/hg19 by Entrez Gene)
Size:
3,570 bases
Orientation:
Minus strand

chr16:417,384-420,527
(GRCh37/hg19 by Ensembl)
Size:
3,144 bases
Orientation:
Minus strand

Genomic View for MRPL28 Gene

Genes around MRPL28 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MRPL28 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MRPL28 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MRPL28 Gene

Proteins for MRPL28 Gene

  • Protein details for MRPL28 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q13084-RM28_HUMAN
    Recommended name:
    39S ribosomal protein L28, mitochondrial
    Protein Accession:
    Q13084
    Secondary Accessions:
    • B2RCM4
    • D3DU46
    • Q4TT39
    • Q96S26
    • Q9BQD8
    • Q9BR04

    Protein attributes for MRPL28 Gene

    Size:
    256 amino acids
    Molecular mass:
    30157 Da
    Quaternary structure:
    • Component of the mitochondrial large ribosomal subunit (mt-LSU) (PubMed:28892042, PubMed:25278503, PubMed:11551941). 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 (PubMed:11551941, PubMed:25278503). Interacts with OXA1L.
    SequenceCaution:
    • Sequence=AAC50181.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=AAK61226.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};
    Miscellaneous:
    • Potentially represents an important therapeutic reagent for HLA-A24 patients. This antigen is recognized by tumor-infiltrating lymphocyte (TIL) 1290 in the context of HLA-A24.

    Three dimensional structures from OCA and Proteopedia for MRPL28 Gene

neXtProt entry for MRPL28 Gene

Post-translational modifications for MRPL28 Gene

  • Ubiquitination at Lys106
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for MRPL28 Gene

Domains & Families for MRPL28 Gene

Gene Families for MRPL28 Gene

Protein Domains for MRPL28 Gene

Suggested Antigen Peptide Sequences for MRPL28 Gene

GenScript: Design optimal peptide antigens:
  • MRPL28 protein (Q6FHK1_HUMAN)
  • Melanoma-associated antigen recognized by T lymphocytes (RM28_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q13084

UniProtKB/Swiss-Prot:

RM28_HUMAN :
  • Belongs to the bacterial ribosomal protein bL28 family.
Family:
  • Belongs to the bacterial ribosomal protein bL28 family.
genes like me logo Genes that share domains with MRPL28: view

Function for MRPL28 Gene

Phenotypes From GWAS Catalog for MRPL28 Gene

Gene Ontology (GO) - Molecular Function for MRPL28 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003723 RNA binding HDA 22658674
GO:0003735 structural constituent of ribosome IEA,NAS 11543634
GO:0005515 protein binding IPI 20601428
genes like me logo Genes that share ontologies with MRPL28: view

Phenotypes for MRPL28 Gene

genes like me logo Genes that share phenotypes with MRPL28: view

miRNA for MRPL28 Gene

miRTarBase miRNAs that target MRPL28

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MRPL28

No data available for Molecular function , Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for MRPL28 Gene

Localization for MRPL28 Gene

Subcellular locations from UniProtKB/Swiss-Prot for MRPL28 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 MRPL28 gene
Compartment Confidence
mitochondrion 5
cytosol 4
nucleus 2

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for MRPL28 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IEA,IDA 28892042
GO:0005743 mitochondrial inner membrane TAS --
GO:0005761 mitochondrial ribosome NAS 11543634
GO:0005762 mitochondrial large ribosomal subunit IBA,IDA 25278503
GO:0005829 cytosol IDA --
genes like me logo Genes that share ontologies with MRPL28: view

Pathways & Interactions for MRPL28 Gene

genes like me logo Genes that share pathways with MRPL28: view

Gene Ontology (GO) - Biological Process for MRPL28 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006412 translation NAS 11543634
GO:0070125 mitochondrial translational elongation TAS --
GO:0070126 mitochondrial translational termination TAS --
genes like me logo Genes that share ontologies with MRPL28: view

No data available for SIGNOR curated interactions for MRPL28 Gene

Drugs & Compounds for MRPL28 Gene

(2) Drugs for MRPL28 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(2) Additional Compounds for MRPL28 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with MRPL28: view

Transcripts for MRPL28 Gene

mRNA/cDNA for MRPL28 Gene

1 REFSEQ mRNAs :
14 NCBI additional mRNA sequence :
11 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 MRPL28

Alternative Splicing Database (ASD) splice patterns (SP) for MRPL28 Gene

No ASD Table

Relevant External Links for MRPL28 Gene

GeneLoc Exon Structure for
MRPL28

Expression for MRPL28 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for MRPL28 Gene

Protein differential expression in normal tissues from HIPED for MRPL28 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (25.1), Bone marrow stromal cell (8.0), and Bone (7.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for MRPL28 Gene



Protein tissue co-expression partners for MRPL28 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for MRPL28

SOURCE GeneReport for Unigene cluster for MRPL28 Gene:

Hs.513230

mRNA Expression by UniProt/SwissProt for MRPL28 Gene:

Q13084-RM28_HUMAN
Tissue specificity: Found in a variety of normal tissues including spleen, testes, thymus, liver, kidney, brain, adrenal, lung and retinal tissue.

Evidence on tissue expression from TISSUES for MRPL28 Gene

  • Lung(4.5)
  • Muscle(4.4)
  • Nervous system(3.6)
  • Skin(3.4)
genes like me logo Genes that share expression patterns with MRPL28: view

Primer products for research

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 MRPL28 Gene

Orthologs for MRPL28 Gene

This gene was present in the common ancestor of animals.

Orthologs for MRPL28 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia MRPL28 29
  • 93.31 (n)
Cow
(Bos Taurus)
Mammalia MRPL28 29 30
  • 85.04 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Mrpl28 29 16 30
  • 83.46 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Mrpl28 29
  • 83.07 (n)
Oppossum
(Monodelphis domestica)
Mammalia MRPL28 30
  • 81 (a)
OneToOne
Dog
(Canis familiaris)
Mammalia MRPL28 29 30
  • 78.61 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia MRPL28 30
  • 56 (a)
OneToOne
Chicken
(Gallus gallus)
Aves -- 30
  • 68 (a)
OneToMany
MRPL28 30
  • 67 (a)
OneToMany
-- 30
  • 62 (a)
OneToMany
Lizard
(Anolis carolinensis)
Reptilia MRPL28 30
  • 64 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia mrpl28 29
  • 62.98 (n)
Str.15480 29
Zebrafish
(Danio rerio)
Actinopterygii mrpl28 29 30
  • 68.65 (n)
OneToOne
wufa96b11 29
Rainbow Trout
(Oncorhynchus mykiss)
Actinopterygii Omy.10905 29
Fruit Fly
(Drosophila melanogaster)
Insecta mRpL28 30
  • 28 (a)
OneToOne
Worm
(Caenorhabditis elegans)
Secernentea mrpl-28 29 30
  • 47.67 (n)
OneToOne
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.3134 30
  • 40 (a)
OneToOne
Species where no ortholog for MRPL28 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • 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 MRPL28 Gene

ENSEMBL:
Gene Tree for MRPL28 (if available)
TreeFam:
Gene Tree for MRPL28 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for MRPL28: view image
Alliance of Genome Resources:
Additional Orthologs for MRPL28

Paralogs for MRPL28 Gene

No data available for Paralogs for MRPL28 Gene

Variants for MRPL28 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for MRPL28 Gene

SNP ID Clinical significance and condition Chr 16 pos Variation AA Info Type
rs141675853 Benign: not provided 369,086(-) G/C
NM_006428.5(MRPL28):c.423C>G (p.Leu141=)
SYNONYMOUS
rs149440376 Likely Benign: Oromandibular-limb hypogenesis spectrum 370,043(-) C/G
NM_006428.5(MRPL28):c.176G>C (p.Arg59Pro)
MISSENSE
rs181590179 Likely Benign: Oromandibular-limb hypogenesis spectrum 368,381(-) C/T
NM_006428.5(MRPL28):c.610G>A (p.Val204Met)
MISSENSE
rs11557302 -- p.Asp160Glu
rs13226 -- p.Tyr230Cys

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for MRPL28 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 MRPL28 Gene

Variant ID Type Subtype PubMed ID
dgv32n68 CNV loss 17160897
dgv4809n54 CNV loss 21841781
esv1353875 CNV insertion 17803354
esv2422427 CNV duplication 17116639
esv3637563 CNV gain 21293372
esv3637564 CNV gain 21293372
esv3637569 CNV loss 21293372
esv3637570 CNV gain 21293372
nsv513440 CNV insertion 21212237
nsv517471 CNV loss 19592680
nsv570954 CNV loss 21841781
nsv827478 CNV gain 20364138
nsv952897 CNV deletion 24416366

Variation tolerance for MRPL28 Gene

Residual Variation Intolerance Score: 65.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 7.09; 80.44% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for MRPL28 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
MRPL28
Leiden Open Variation Database (LOVD)
MRPL28

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MRPL28 Gene

Disorders for MRPL28 Gene

MalaCards: The human disease database

(3) MalaCards diseases for MRPL28 Gene - From: COP and GCD

- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for MRPL28

Human Genome Epidemiology Navigator
(HuGE)
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 MRPL28: view

No data available for UniProtKB/Swiss-Prot and Genatlas for MRPL28 Gene

Publications for MRPL28 Gene

  1. Oxygen consumption can regulate the growth of tumors, a new perspective on the Warburg effect. (PMID: 19753307) Chen Y … Denko NC (PloS one 2009) 2 3 22
  2. The large subunit of the mammalian mitochondrial ribosome. Analysis of the complement of ribosomal proteins present. (PMID: 11551941) Koc EC … Spremulli LL (The Journal of biological chemistry 2001) 2 3 4
  3. Cloning of a new gene encoding an antigen recognized by melanoma-specific HLA-A24-restricted tumor-infiltrating lymphocytes. (PMID: 7751637) Robbins PF … Rosenberg SA (Journal of immunology (Baltimore, Md. : 1950) 1995) 3 4 22
  4. Structures of the human mitochondrial ribosome in native states of assembly. (PMID: 28892042) Brown A … Ramakrishnan V (Nature structural & molecular biology 2017) 3 4
  5. Structure of the large ribosomal subunit from human mitochondria. (PMID: 25278503) Brown A … Ramakrishnan V (Science (New York, N.Y.) 2014) 3 4

Products for MRPL28 Gene

Sources for MRPL28 Gene