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

Gene ID: 25813, updated on 8-May-2016
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 HPRD:10826; MIM:612058; Vega:OTTHUMG00000150557
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]
Orthologs
Location:
22q13.31
Exon count:
15
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 22 NC_000022.11 (43955381..43996532)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (44351261..44392412)

Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene patatin like phospholipase domain containing 5 Neighboring gene patatin like phospholipase domain containing 3 Neighboring gene ribosomal protein L35a pseudogene 36 Neighboring gene parvin beta Neighboring gene transfer RNA-SeC (TCA) 2-1 Neighboring gene parvin gamma

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

NHGRI GWAS Catalog

Description
Genetic polymorphisms of the human PNPLA3 gene are strongly associated with severity of non-alcoholic fatty liver disease in Japanese.
NHGRI GWA Catalog
Genome-wide association study identifies loci influencing concentrations of liver enzymes in plasma.
NHGRI GWA Catalog
Genome-wide association study of hematological and biochemical traits in a Japanese population.
NHGRI GWA 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.
NHGRI GWA Catalog
Population-based genome-wide association studies reveal six loci influencing plasma levels of liver enzymes.
NHGRI GWA Catalog

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

  • Metabolism of proteins, organism-specific biosystem (from REACTOME)
    Metabolism of proteins, organism-specific biosystemProtein metabolism comprises the pathways of translation, post-translational modification and protein folding.
  • Mitochondrial protein import, organism-specific biosystem (from REACTOME)
    Mitochondrial protein import, organism-specific biosystemA human mitochondrion contains about 1500 proteins, more than 99% of which are encoded in the nucleus, synthesized in the cytosol and imported into the mitochondrion. Proteins are targeted to four lo...
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • FLJ35825, FLJ42905, FLJ99036

Gene Ontology Provided by GOA

Function Evidence Code Pubs
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
cristae formation IMP
Inferred from Mutant Phenotype
more info
PubMed 
mitochondrial respiratory chain complex assembly IMP
Inferred from Mutant Phenotype
more info
PubMed 
protein import into mitochondrial outer membrane IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
extracellular exosome IDA
Inferred from Direct Assay
more info
PubMed 
integral component of membrane IDA
Inferred from Direct Assay
more info
PubMed 
mitochondrial inner membrane IEA
Inferred from Electronic Annotation
more info
 
mitochondrial outer membrane IDA
Inferred from Direct Assay
more info
PubMed 
mitochondrial sorting and assembly machinery complex IMP
Inferred from Mutant Phenotype
more info
PubMed 
mitochondrion IDA
Inferred from Direct Assay
more info
PubMed 
Preferred Names
sorting and assembly machinery component 50 homolog
Names
sorting and assembly machinery 50kDa
transformation-related gene 3 protein

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_029057.1 RefSeqGene

    Range
    5001..46152
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_015380.4NP_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
    Q9Y512
    Related
    ENSP00000345445, OTTHUMP00000197826, ENST00000350028, OTTHUMT00000318898
    Conserved Domains (2) summary
    pfam01103
    Location:151468
    Bac_surface_Ag; Surface antigen
    pfam07244
    Location:45124
    Surf_Ag_VNR; Surface antigen variable number repeat

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107 details...

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

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000022.11 Reference GRCh38.p2 Primary Assembly

    Range
    43955381..43996532
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018933.2 Alternate CHM1_1.1

    Range
    44309992..44351172
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)