U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Links from GEO Profiles

    • Showing Current items.

    MALSU1 mitochondrial assembly of ribosomal large subunit 1 [ Homo sapiens (human) ]

    Gene ID: 115416, updated on 9-Dec-2024

    Summary

    Official Symbol
    MALSU1provided by HGNC
    Official Full Name
    mitochondrial assembly of ribosomal large subunit 1provided by HGNC
    Primary source
    HGNC:HGNC:21721
    See related
    Ensembl:ENSG00000156928 MIM:614624; AllianceGenome:HGNC:21721
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    mtRsfA; C7orf30
    Summary
    Enables mitochondrial large ribosomal subunit binding activity. Involved in negative regulation of mitochondrial translation and ribosomal large subunit biogenesis. Located in cytosol and mitochondrion. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Ubiquitous expression in kidney (RPKM 9.8), fat (RPKM 9.6) and 25 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See MALSU1 in Genome Data Viewer
    Location:
    7p15.3
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (23299339..23311729)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (23435779..23448169)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (23338958..23351348)

    Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC101927890 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25722 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25723 Neighboring gene MPRA-validated peak6433 silencer Neighboring gene glycoprotein nmb Neighboring gene ReSE screen-validated silencer GRCh37_chr7:23311287-23311491 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18007 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18008 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25724 Neighboring gene MPRA-validated peak6435 silencer Neighboring gene insulin like growth factor 2 mRNA binding protein 3 Neighboring gene Sharpr-MPRA regulatory region 6228 Neighboring gene ReSE screen-validated silencer GRCh37_chr7:23394340-23394499 Neighboring gene Sharpr-MPRA regulatory region 10260 Neighboring gene small nucleolar RNA, C/D box 65C Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25725 Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:23474935-23475436 Neighboring gene RNA, U7 small nuclear 143 pseudogene

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables mitochondrial large ribosomal subunit binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables ribosomal large subunit binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    Process Evidence Code Pubs
    involved_in negative regulation of mitochondrial translation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in negative regulation of ribosome biogenesis IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in negative regulation of translation IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in ribosomal large subunit biogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
     
    located_in mitochondrial matrix IEA
    Inferred from Electronic Annotation
    more info
     
    located_in mitochondrion HTP PubMed 
    is_active_in mitochondrion IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in mitochondrion IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    mitochondrial assembly of ribosomal large subunit protein 1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_138446.2NP_612455.1  mitochondrial assembly of ribosomal large subunit protein 1

      See identical proteins and their annotated locations for NP_612455.1

      Status: VALIDATED

      Source sequence(s)
      AC005082, BC012331
      Consensus CDS
      CCDS5381.1
      UniProtKB/Swiss-Prot
      A4D154, Q96EH3
      Related
      ENSP00000419370.1, ENST00000466681.2
      Conserved Domains (1) summary
      pfam02410
      Location:98194
      RsfS; Ribosomal silencing factor during starvation

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000007.14 Reference GRCh38.p14 Primary Assembly

      Range
      23299339..23311729
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060931.1 Alternate T2T-CHM13v2.0

      Range
      23435779..23448169
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)