Human Gene MALSU1 (ENST00000466681.2_4) from GENCODE V47lift37
  Description: mitochondrial assembly of ribosomal large subunit 1 (from RefSeq NM_138446.2)
Gencode Transcript: ENST00000466681.2_4
Gencode Gene: ENSG00000156928.5_7
Transcript (Including UTRs)
   Position: hg19 chr7:23,338,958-23,351,348 Size: 12,391 Total Exon Count: 4 Strand: +
Coding Region
   Position: hg19 chr7:23,338,972-23,349,162 Size: 10,191 Coding Exon Count: 4 

Page IndexSequence and LinksUniProtKB CommentsPrimersCTDGene Alleles
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr7:23,338,958-23,351,348)mRNA (may differ from genome)Protein (234 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
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BioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: MASU1_HUMAN
DESCRIPTION: RecName: Full=Mitochondrial assembly of ribosomal large subunit protein 1;
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.
SUBUNIT: Associates with the mitochondrial ribosome large subunit (39S). Interacts with MRPL12 and MRPL14.
SUBCELLULAR LOCATION: Mitochondrion matrix. Note=Colocalizes with MRPL12 (PubMed:22238375) and/or MRPL14 (PubMed:22829778).
SIMILARITY: Belongs to the Iojap/RsfS family.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 18.36 RPKM in Testis
Total median expression: 520.93 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
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-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
3' UTR -473.602186-0.217 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR025656 - Oligomer_dom
IPR004394 - Ribosome-assoc_Iojap-like

Pfam Domains:
PF02410 - Ribosomal silencing factor during starvation

SCOP Domains:
81301 - Nucleotidyltransferase

ModBase Predicted Comparative 3D Structure on Q96EH3
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details Gene Details  
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-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005515 protein binding
GO:0043023 ribosomal large subunit binding

Biological Process:
GO:0042273 ribosomal large subunit biogenesis
GO:0070130 negative regulation of mitochondrial translation
GO:0090071 negative regulation of ribosome biogenesis

Cellular Component:
GO:0005739 mitochondrion
GO:0005759 mitochondrial matrix
GO:0005829 cytosol


-  Descriptions from all associated GenBank mRNAs
  BC012331 - Homo sapiens chromosome 7 open reading frame 30, mRNA (cDNA clone MGC:20424 IMAGE:4646294), complete cds.
AK316559 - Homo sapiens cDNA, FLJ92099.
AK127742 - Homo sapiens cDNA FLJ45842 fis, clone NTONG2009468.
KJ895288 - Synthetic construct Homo sapiens clone ccsbBroadEn_04682 MALSU1 gene, encodes complete protein.
AL832885 - Homo sapiens mRNA; cDNA DKFZp667L233 (from clone DKFZp667L233).
BC065766 - Homo sapiens cDNA clone IMAGE:4701659, with apparent retained intron.

-  Other Names for This Gene
  Alternate Gene Symbols: A4D154, C7orf30, ENST00000466681.1, MASU1_HUMAN, NM_138446, Q96EH3, uc321izf.1, uc321izf.2
UCSC ID: ENST00000466681.2_4
RefSeq Accession: NM_138446.2
Protein: Q96EH3 (aka MASU1_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.