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    SAMM50 SAMM50 sorting and assembly machinery component [ Homo sapiens (human) ]

    Gene ID: 25813, updated on 9-Dec-2024

    Summary

    Official Symbol
    SAMM50provided by HGNC
    Official Full Name
    SAMM50 sorting and assembly machinery componentprovided by HGNC
    Primary source
    HGNC:HGNC:24276
    See related
    Ensembl:ENSG00000100347 MIM:612058; AllianceGenome:HGNC:24276
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    OMP85; SAM50; TOB55; TRG-3; CGI-51; YNL026W
    Summary
    This gene encodes a component of the Sorting and Assembly Machinery (SAM) of the mitochondrial outer membrane. The Sam complex functions in the assembly of beta-barrel proteins into the outer mitochondrial membrane.[provided by RefSeq, Jun 2011]
    Expression
    Ubiquitous expression in fat (RPKM 26.2), duodenum (RPKM 21.9) and 25 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See SAMM50 in Genome Data Viewer
    Location:
    22q13.31
    Exon count:
    15
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 22 NC_000022.11 (43955442..43996529)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 22 NC_060946.1 (44438587..44480322)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (44351322..44392409)

    Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:44279103-44279833 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr22:44293320-44294519 Neighboring gene patatin like phospholipase domain containing 5 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:44301043-44301543 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:44317583-44318083 Neighboring gene H3K27ac hESC enhancer GRCh37_chr22:44319500-44320244 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:44320245-44320987 Neighboring gene Sharpr-MPRA regulatory region 5125 Neighboring gene patatin like phospholipase domain containing 3 Neighboring gene ReSE screen-validated silencer GRCh37_chr22:44347552-44347721 Neighboring gene H3K27ac hESC enhancers GRCh37_chr22:44350547-44351299 and GRCh37_chr22:44351300-44352051 Neighboring gene ribosomal protein L35a pseudogene 36 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19196 Neighboring gene uncharacterized LOC124905131 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13860 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13861 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13862 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13863 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19200 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19199 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19197 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19198 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19201 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19202 Neighboring gene parvin beta Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19203 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:44433869-44434401 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19204 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:44441960-44442509 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:44444424-44445372 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr22:44447510-44448390 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:44451418-44451918 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:44459805-44460304 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:44463139-44463704 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:44463705-44464268 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19205 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19206 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:44464833-44465396 Neighboring gene H3K27ac hESC enhancer GRCh37_chr22:44501635-44502135 Neighboring gene OCT4-H3K27ac hESC enhancer GRCh37_chr22:44502229-44503124 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:44503125-44504019 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:44504020-44504914 Neighboring gene OCT4-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:44541321-44541950 Neighboring gene OCT4-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:44541951-44542580 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:44543839-44544468 Neighboring gene tRNA-SeC (anticodon TCA) 2-1

    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?

    Phenotypes

    EBI GWAS Catalog

    Description
    Genetic polymorphisms of the human PNPLA3 gene are strongly associated with severity of non-alcoholic fatty liver disease in Japanese.
    EBI GWAS Catalog
    Genome-wide association study identifies loci influencing concentrations of liver enzymes in plasma.
    EBI GWAS Catalog
    Genome-wide association study of hematological and biochemical traits in a Japanese population.
    EBI GWAS Catalog
    Genome-wide scan revealed that polymorphisms in the PNPLA3, SAMM50, and PARVB genes are associated with development and progression of nonalcoholic fatty liver disease in Japan.
    EBI GWAS Catalog
    Population-based genome-wide association studies reveal six loci influencing plasma levels of liver enzymes.
    EBI GWAS Catalog

    HIV-1 interactions

    Replication interactions

    Interaction Pubs
    Knockdown of sorting and assembly machinery component 50 homolog (S. cerevisiae, SAMM50) by siRNA inhibits the early stages of HIV-1 replication in 293T cells infected with VSV-G pseudotyped HIV-1 PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • FLJ35825, FLJ42905, FLJ99036

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 

    General protein information

    Preferred Names
    sorting and assembly machinery component 50 homolog
    Names
    sorting and assembly machinery 50kDa
    transformation-related gene 3 protein

    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.

    Genomic

    1. NG_029057.2 RefSeqGene

      Range
      5062..46149
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_015380.5NP_056195.3  sorting and assembly machinery component 50 homolog

      See identical proteins and their annotated locations for NP_056195.3

      Status: REVIEWED

      Source sequence(s)
      AY189688, BC011681, DB030637
      Consensus CDS
      CCDS14055.1
      UniProtKB/Swiss-Prot
      Q53HC4, Q56VW7, Q969Y9, Q96I46, Q9NW85, Q9UQM9, Q9Y512
      Related
      ENSP00000345445.4, ENST00000350028.5
      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_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_000022.11 Reference GRCh38.p14 Primary Assembly

      Range
      43955442..43996529
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060946.1 Alternate T2T-CHM13v2.0

      Range
      44438587..44480322
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)