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

    Gene ID: 115416, updated on 10-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
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    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: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Gene Ontology Provided by GOA

    Component Evidence Code Pubs
    located_in cytosol  
    located_in mitochondrial matrix  
    located_in mitochondrion PubMed 
    is_active_in mitochondrion  
    located_in mitochondrion 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)
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