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    Samm50 SAMM50 sorting and assembly machinery component [ Mus musculus (house mouse) ]

    Gene ID: 68653, updated on 27-Nov-2024

    Summary

    Official Symbol
    Samm50provided by MGI
    Official Full Name
    SAMM50 sorting and assembly machinery componentprovided by MGI
    Primary source
    MGI:MGI:1915903
    See related
    Ensembl:ENSMUSG00000022437 AllianceGenome:MGI:1915903
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    1110030L07Rik
    Summary
    Predicted to be involved in cristae formation; mitochondrial respiratory chain complex assembly; and protein insertion into mitochondrial outer membrane. Located in mitochondrial inner membrane. Human ortholog(s) of this gene implicated in metabolic dysfunction-associated steatotic liver disease. Orthologous to human SAMM50 (SAMM50 sorting and assembly machinery component). [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in heart adult (RPKM 17.2), kidney adult (RPKM 16.7) and 28 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See Samm50 in Genome Data Viewer
    Location:
    15 E2; 15 39.78 cM
    Exon count:
    15
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 15 NC_000081.7 (84076441..84100284)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 15 NC_000081.6 (84192240..84216083)

    Chromosome 15 - NC_000081.7Genomic Context describing neighboring genes Neighboring gene microRNA 6392 Neighboring gene patatin-like phospholipase domain containing 3 Neighboring gene STARR-seq mESC enhancer starr_39354 Neighboring gene gamma-secretase subunit PEN-2 pseudogene Neighboring gene VISTA enhancer mm91 Neighboring gene STARR-seq mESC enhancer starr_39355 Neighboring gene STARR-seq mESC enhancer starr_39356 Neighboring gene parvin, beta Neighboring gene predicted gene, 33723 Neighboring gene CapStarr-seq enhancer MGSCv37_chr15:84146147-84146300 Neighboring gene predicted gene, 22890

    Genomic regions, transcripts, and products

    Expression

    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Variation

    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (1) 

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in cristae formation ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in cristae formation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in mitochondrial respiratory chain complex assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in mitochondrial respiratory chain complex assembly ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in mitochondrial respiratory chain complex assembly ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in protein insertion into mitochondrial outer membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in protein insertion into mitochondrial outer membrane IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in protein insertion into mitochondrial outer membrane ISO
    Inferred from Sequence Orthology
    more info
     
    Component Evidence Code Pubs
    part_of SAM complex IEA
    Inferred from Electronic Annotation
    more info
     
    part_of SAM complex ISO
    Inferred from Sequence Orthology
    more info
     
    located_in membrane ISO
    Inferred from Sequence Orthology
    more info
     
    located_in mitochondrial inner membrane HDA PubMed 
    located_in mitochondrial outer membrane ISO
    Inferred from Sequence Orthology
    more info
     
    located_in mitochondrion HDA PubMed 
    located_in mitochondrion ISO
    Inferred from Sequence Orthology
    more info
     

    General protein information

    Preferred Names
    sorting and assembly machinery component 50 homolog

    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_178614.5NP_848729.1  sorting and assembly machinery component 50 homolog

      See identical proteins and their annotated locations for NP_848729.1

      Status: VALIDATED

      Source sequence(s)
      AK039949, AK041783, BP765539
      Consensus CDS
      CCDS37166.1
      UniProtKB/Swiss-Prot
      Q3TIL3, Q3TTG7, Q3TWD3, Q8BGH2
      Related
      ENSMUSP00000023071.7, ENSMUST00000023071.8
      Conserved Domains (2) summary
      pfam01103
      Location:151468
      Bac_surface_Ag; Surface antigen
      pfam07244
      Location:45124
      POTRA; Surface antigen variable number repeat

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000081.7 Reference GRCm39 C57BL/6J

      Range
      84076441..84100284
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)