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

Gene ID: 68653, updated on 8-Feb-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 non-alcoholic fatty liver disease. Orthologous to human SAMM50 (SAMM50 sorting and assembly machinery component). [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in heart adult (RPKM 17.2), kidney adult (RPKM 16.7) and 28 other tissues See more
Orthologs
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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 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 protein insertion into mitochondrial outer membrane IBA
Inferred from Biological aspect of Ancestor
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 ISO
Inferred from Sequence Orthology
more info
 
located_in cytoplasm IEA
Inferred from Electronic Annotation
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
 
located_in outer membrane IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
sorting and assembly machinery component 50 homolog

NCBI Reference Sequences (RefSeq)

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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)