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Aliases for MALSU1 Gene

Aliases for MALSU1 Gene

  • Mitochondrial Assembly Of Ribosomal Large Subunit 1 2 3 5
  • C7orf30 3 4
  • Chromosome 7 Open Reading Frame 30 2
  • MtRsfA 3

External Ids for MALSU1 Gene

Previous HGNC Symbols for MALSU1 Gene

  • C7orf30

Summaries for MALSU1 Gene

GeneCards Summary for MALSU1 Gene

MALSU1 (Mitochondrial Assembly Of Ribosomal Large Subunit 1) is a Protein Coding gene. GO annotations related to this gene include ribosomal large subunit binding.

UniProtKB/Swiss-Prot for MALSU1 Gene

  • May function as a ribosomal silencing factor. Addition to isolated mitochondrial ribosomal subunits partially inhibits translation. Interacts with mitochondrial ribosomal protein L14 (MRPL14), probably blocking formation of intersubunit bridge B8, preventing association of the 28S and 39S ribosomal subunits and the formation of functional ribosomes, thus repressing translation. May also participate in the assembly and/or regulation of the stability of the large subunit of the mitochondrial ribosome.

Gene Wiki entry for MALSU1 Gene

No data available for Entrez Gene Summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MALSU1 Gene

Genomics for MALSU1 Gene

Regulatory Elements for MALSU1 Gene

Promoters for MALSU1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around MALSU1 on UCSC Golden Path with GeneCards custom track

Genomic Location for MALSU1 Gene

Chromosome:
7
Start:
23,298,739 bp from pter
End:
23,311,729 bp from pter
Size:
12,991 bases
Orientation:
Plus strand

Genomic View for MALSU1 Gene

Genes around MALSU1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MALSU1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MALSU1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MALSU1 Gene

Proteins for MALSU1 Gene

  • Protein details for MALSU1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96EH3-MASU1_HUMAN
    Recommended name:
    Mitochondrial assembly of ribosomal large subunit protein 1
    Protein Accession:
    Q96EH3
    Secondary Accessions:
    • A4D154

    Protein attributes for MALSU1 Gene

    Size:
    234 amino acids
    Molecular mass:
    26170 Da
    Quaternary structure:
    • Associates with the mitochondrial ribosome large subunit (39S). Interacts with MRPL12 and MRPL14.

neXtProt entry for MALSU1 Gene

Proteomics data for MALSU1 Gene at MOPED

Post-translational modifications for MALSU1 Gene

  • Ubiquitination at Lys 192
  • Modification sites at PhosphoSitePlus

Other Protein References for MALSU1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for MALSU1 Gene

Domains & Families for MALSU1 Gene

Protein Domains for MALSU1 Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for MALSU1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q96EH3

UniProtKB/Swiss-Prot:

MASU1_HUMAN :
  • Belongs to the Iojap/RsfS family.
Family:
  • Belongs to the Iojap/RsfS family.
genes like me logo Genes that share domains with MALSU1: view

No data available for Gene Families for MALSU1 Gene

Function for MALSU1 Gene

Molecular function for MALSU1 Gene

UniProtKB/Swiss-Prot Function:
May function as a ribosomal silencing factor. Addition to isolated mitochondrial ribosomal subunits partially inhibits translation. Interacts with mitochondrial ribosomal protein L14 (MRPL14), probably blocking formation of intersubunit bridge B8, preventing association of the 28S and 39S ribosomal subunits and the formation of functional ribosomes, thus repressing translation. May also participate in the assembly and/or regulation of the stability of the large subunit of the mitochondrial ribosome.

Gene Ontology (GO) - Molecular Function for MALSU1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 25416956
genes like me logo Genes that share ontologies with MALSU1: view

Phenotypes for MALSU1 Gene

GenomeRNAi human phenotypes for MALSU1:
genes like me logo Genes that share phenotypes with MALSU1: view

Animal Model Products

miRNA for MALSU1 Gene

miRTarBase miRNAs that target MALSU1

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for MALSU1 Gene

Localization for MALSU1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for MALSU1 Gene

Mitochondrion matrix. Note=Colocalizes with MRPL12 (PubMed:22238375) and/or MRPL14 (PubMed:22829778). {ECO:0000269 PubMed:22238375, ECO:0000269 PubMed:22829778}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for MALSU1 Gene COMPARTMENTS Subcellular localization image for MALSU1 gene
Compartment Confidence
mitochondrion 5
cytosol 3
extracellular 1
nucleus 1

No data available for Gene Ontology (GO) - Cellular Components for MALSU1 Gene

Pathways & Interactions for MALSU1 Gene

SuperPathways for MALSU1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for MALSU1 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for MALSU1 Gene

Drugs & Compounds for MALSU1 Gene

No Compound Related Data Available

Transcripts for MALSU1 Gene

Unigene Clusters for MALSU1 Gene

Mitochondrial assembly of ribosomal large subunit 1:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for MALSU1 Gene

No ASD Table

Relevant External Links for MALSU1 Gene

GeneLoc Exon Structure for
MALSU1
ECgene alternative splicing isoforms for
MALSU1

Expression for MALSU1 Gene

mRNA expression in normal human tissues for MALSU1 Gene

Protein differential expression in normal tissues from HIPED for MALSU1 Gene

This gene is overexpressed in Adrenal (31.1) and Heart (11.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for MALSU1 Gene



SOURCE GeneReport for Unigene cluster for MALSU1 Gene Hs.87385

genes like me logo Genes that share expression patterns with MALSU1: view

Protein tissue co-expression partners for MALSU1 Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for MALSU1 Gene

Orthologs for MALSU1 Gene

This gene was present in the common ancestor of animals.

Orthologs for MALSU1 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia MALSU1 35
  • 84.76 (n)
  • 76.5 (a)
MALSU1 36
  • 77 (a)
OneToOne
dog
(Canis familiaris)
Mammalia MALSU1 35
  • 83.76 (n)
  • 75.43 (a)
MALSU1 36
  • 74 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Malsu1 35
  • 80.12 (n)
  • 73.68 (a)
Malsu1 16
Malsu1 36
  • 73 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia MALSU1 35
  • 99.57 (n)
  • 99.57 (a)
MALSU1 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Malsu1 35
  • 78.89 (n)
  • 71.62 (a)
oppossum
(Monodelphis domestica)
Mammalia MALSU1 36
  • 51 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia MALSU1 36
  • 63 (a)
OneToOne
chicken
(Gallus gallus)
Aves C2H7ORF30 35
  • 68.81 (n)
  • 69.29 (a)
MALSU1 36
  • 47 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia MALSU1 36
  • 63 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.32354 35
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.10763 35
zebrafish
(Danio rerio)
Actinopterygii MALSU1 36
  • 39 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG9166 36
  • 26 (a)
OneToOne
Species with no ortholog for MALSU1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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 squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • 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)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for MALSU1 Gene

ENSEMBL:
Gene Tree for MALSU1 (if available)
TreeFam:
Gene Tree for MALSU1 (if available)

Paralogs for MALSU1 Gene

Pseudogenes.org Pseudogenes for MALSU1 Gene

genes like me logo Genes that share paralogs with MALSU1: view

No data available for Paralogs for MALSU1 Gene

Variants for MALSU1 Gene

Sequence variations from dbSNP and Humsavar for MALSU1 Gene

SNP ID Clin Chr 07 pos Sequence Context AA Info Type
rs3772 -- 23,307,597(-) GAAAA(A/G)GCTAA intron-variant
rs192439 -- 23,308,114(+) AGGTG(C/G)TCTTA intron-variant
rs149821 -- 23,299,841(-) GGGAG(A/G)TGGCC intron-variant
rs457713 -- 23,297,883(-) CAATC(A/C)TTTTC upstream-variant-2KB
rs466240 -- 23,299,155(-) TGCTT(A/G)CCCAC upstream-variant-2KB

Variation tolerance for MALSU1 Gene

Residual Variation Intolerance Score: 60% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.93; 19.19% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for MALSU1 Gene

HapMap Linkage Disequilibrium report
MALSU1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for MALSU1 Gene

Disorders for MALSU1 Gene

Relevant External Links for MALSU1

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
MALSU1

No disorders were found for MALSU1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for MALSU1 Gene

Publications for MALSU1 Gene

  1. C7orf30 specifically associates with the large subunit of the mitochondrial ribosome and is involved in translation. (PMID: 22238375) Wanschers B.F. … Huynen M.A. (Nucleic Acids Res. 2012) 2 3 4 67
  2. C7orf30 is necessary for biogenesis of the large subunit of the mitochondrial ribosome. (PMID: 22238376) Rorbach J. … Minczuk M. (Nucleic Acids Res. 2012) 2 3
  3. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3
  4. A proteome-scale map of the human interactome network. (PMID: 25416956) Rolland T. … Vidal M. (Cell 2014) 3
  5. The conserved interaction of C7orf30 with MRPL14 promotes biogenesis of the mitochondrial large ribosomal subunit and mitochondrial translation. (PMID: 23171548) Fung S. … Shoubridge E.A. (Mol. Biol. Cell 2013) 3

Products for MALSU1 Gene

Sources for MALSU1 Gene

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