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

Gene ID: 25813, updated on 7-Jun-2020

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
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

Genomic context

See SAMM50 in Genome Data Viewer
Location:
22q13.31
Exon count:
15
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 22 NC_000022.11 (43955442..43996529)
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 uncharacterized LOC107987326 Neighboring gene parvin beta Neighboring gene uncharacterized LOC107985570 Neighboring gene parvin gamma

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

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

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

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
cellular protein-containing complex assembly IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cristae formation IMP
Inferred from Mutant Phenotype
more info
PubMed 
inner mitochondrial membrane organization IC
Inferred by Curator
more info
PubMed 
mitochondrial respiratory chain complex assembly IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
mitochondrial respiratory chain complex assembly IMP
Inferred from Mutant Phenotype
more info
PubMed 
protein import into mitochondrial outer membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein import into mitochondrial outer membrane IDA
Inferred from Direct Assay
more info
PubMed 
protein-containing complex assembly IBA
Inferred from Biological aspect of Ancestor
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)

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
    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: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000022.11 Reference GRCh38.p13 Primary Assembly

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