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Aliases for SAMM50 Gene

Aliases for SAMM50 Gene

  • SAMM50 Sorting And Assembly Machinery Component 2 3
  • SAM50 3 4 6
  • Transformation-Related Gene 3 Protein 3 4
  • TRG-3 3 4
  • Sorting And Assembly Machinery Component 50 Homolog (S. Cerevisiae) 2
  • Sorting And Assembly Machinery Component 50 Homolog 3
  • Sorting And Assembly Machinery 50kDa 3
  • YNL026W 3
  • CGI-51 3
  • TOB55 3
  • OMP85 3

External Ids for SAMM50 Gene

Summaries for SAMM50 Gene

Entrez Gene Summary for SAMM50 Gene

  • 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]

GeneCards Summary for SAMM50 Gene

SAMM50 (SAMM50 Sorting And Assembly Machinery Component) is a Protein Coding gene. Among its related pathways are Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein and Mitochondrial Protein Import.

UniProtKB/Swiss-Prot for SAMM50 Gene

  • May be required for the assembly pathway of mitochondrial outer membrane proteins.

Gene Wiki entry for SAMM50 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SAMM50 Gene

Genomics for SAMM50 Gene

Genomic Location for SAMM50 Gene

Start:
43,955,381 bp from pter
End:
44,010,531 bp from pter
Size:
55,151 bases
Orientation:
Plus strand

Genomic View for SAMM50 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for SAMM50 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SAMM50 Gene

Regulatory Elements for SAMM50 Gene

Proteins for SAMM50 Gene

  • Protein details for SAMM50 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9Y512-SAM50_HUMAN
    Recommended name:
    Sorting and assembly machinery component 50 homolog
    Protein Accession:
    Q9Y512
    Secondary Accessions:
    • Q53HC4
    • Q56VW7
    • Q969Y9
    • Q96I46
    • Q9NW85
    • Q9UQM9

    Protein attributes for SAMM50 Gene

    Size:
    469 amino acids
    Molecular mass:
    51976 Da
    Quaternary structure:
    • Associates with the MINOS/MitOS complex, that includes IMMT, HSPA9 and CHCHD3

neXtProt entry for SAMM50 Gene

Proteomics data for SAMM50 Gene at MOPED

Post-translational modifications for SAMM50 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for SAMM50 Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

No data available for DME Specific Peptides for SAMM50 Gene

Domains for SAMM50 Gene

Protein Domains for SAMM50 Gene

UniProtKB/Swiss-Prot:

SAM50_HUMAN
Domain:
  • Its C-terminal part seems to contain many membrane-spanning sided beta-sheets, that have the potential to adopt a transmembrane beta-barrel type structure.:
    • Q9Y512
Family:
  • Belongs to the SAM50/omp85 family.:
    • Q9Y512
genes like me logo Genes that share domains with SAMM50: view

No data available for Gene Families for SAMM50 Gene

Function for SAMM50 Gene

Molecular function for SAMM50 Gene

UniProtKB/Swiss-Prot Function: May be required for the assembly pathway of mitochondrial outer membrane proteins.

Gene Ontology (GO) - Molecular Function for SAMM50 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 21081504
genes like me logo Genes that share ontologies with SAMM50: view
genes like me logo Genes that share phenotypes with SAMM50: view

No data available for Enzyme Numbers (IUBMB) , Animal Models , miRNA , Transcription Factor Targeting and HOMER Transcription for SAMM50 Gene

Localization for SAMM50 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SAMM50 Gene

Mitochondrion outer membrane; Multi-pass membrane protein. Cytoplasm.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for SAMM50 Gene COMPARTMENTS Subcellular localization image for SAMM50 gene
Compartment Confidence
mitochondrion 5
cytosol 3
chloroplast 2
nucleus 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for SAMM50 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001401 mitochondrial sorting and assembly machinery complex IMP 15644312
GO:0005739 mitochondrion IDA --
GO:0005741 mitochondrial outer membrane IDA 15644312
GO:0005743 mitochondrial inner membrane IEA --
GO:0016021 integral component of membrane IDA 15644312
genes like me logo Genes that share ontologies with SAMM50: view

Pathways for SAMM50 Gene

genes like me logo Genes that share pathways with SAMM50: view

Pathways by source for SAMM50 Gene

2 Reactome pathways for SAMM50 Gene

Gene Ontology (GO) - Biological Process for SAMM50 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006626 protein targeting to mitochondrion TAS --
GO:0044267 cellular protein metabolic process TAS --
GO:0045040 protein import into mitochondrial outer membrane IDA 15644312
genes like me logo Genes that share ontologies with SAMM50: view

Transcripts for SAMM50 Gene

Unigene Clusters for SAMM50 Gene

Sorting and assembly machinery component 50 homolog (S. cerevisiae):
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for SAMM50 Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7a · 7b ^ 8 ^ 9a · 9b ^ 10 ^ 11 ^ 12 ^ 13 ^ 14a · 14b ^ 15 ^ 16
SP1: - - - -
SP2: -
SP3: -
SP4: -
SP5:

Relevant External Links for SAMM50 Gene

GeneLoc Exon Structure for
SAMM50
ECgene alternative splicing isoforms for
SAMM50

Expression for SAMM50 Gene

mRNA expression in normal human tissues for SAMM50 Gene

mRNA differential expression in normal tissues according to GTEx for SAMM50 Gene

This gene is overexpressed in Muscle - Skeletal (4.4).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for SAMM50 Gene

SOURCE GeneReport for Unigene cluster for SAMM50 Gene Hs.505824

genes like me logo Genes that share expressions with SAMM50: view

Orthologs for SAMM50 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for SAMM50 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SAMM50 36
  • 99.5 (n)
  • 99.36 (a)
SAMM50 37
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia SAMM50 36
  • 86.92 (n)
  • 95.74 (a)
SAMM50 37
  • 93 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SAMM50 36
  • 89.2 (n)
  • 97.23 (a)
SAMM50 37
  • 97 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Samm50 36
  • 85.15 (n)
  • 95.95 (a)
Samm50 16
Samm50 37
  • 96 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia SAMM50 37
  • 92 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SAMM50 37
  • 91 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Samm50 36
  • 85.22 (n)
  • 95.1 (a)
chicken
(Gallus gallus)
Aves SAMM50 36
  • 81.81 (n)
  • 91.68 (a)
SAMM50 37
  • 91 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SAMM50 37
  • 90 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia MGC68698 36
tropical clawed frog
(Silurana tropicalis)
Amphibia MGC76027 36
samm50 36
  • 74.57 (n)
  • 88.46 (a)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.518 36
zebrafish
(Danio rerio)
Actinopterygii samm50 36
  • 73.49 (n)
  • 84.01 (a)
samm50 37
  • 84 (a)
OneToMany
samm50l 37
  • 78 (a)
OneToMany
zgc55803 36
fruit fly
(Drosophila melanogaster)
Insecta CG7639 37
  • 34 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea gop-3 36
  • 45.92 (n)
  • 34.8 (a)
gop-3 37
  • 33 (a)
OneToOne
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AGR392C 36
  • 44.38 (n)
  • 32.56 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes SAM50 36
  • 41.13 (n)
  • 34.2 (a)
SAM50 37
  • 24 (a)
OneToOne
SAM50 39
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0E08735g 36
  • 44.39 (n)
  • 29.7 (a)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT3G11070 36
  • 42.06 (n)
  • 32.84 (a)
rice
(Oryza sativa)
Liliopsida Os05g0470800 36
  • 39.8 (n)
  • 31.84 (a)
bread mold
(Neurospora crassa)
Ascomycetes NCU05593 36
  • 44.36 (n)
  • 37.47 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes sam50 36
  • 44.06 (n)
  • 35.09 (a)
Species with no ortholog for SAMM50:
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for SAMM50 Gene

ENSEMBL:
Gene Tree for SAMM50 (if available)
TreeFam:
Gene Tree for SAMM50 (if available)

Paralogs for SAMM50 Gene

Pseudogenes.org Pseudogenes for SAMM50 Gene

genes like me logo Genes that share paralogs with SAMM50: view

No data available for Paralogs for SAMM50 Gene

Variants for SAMM50 Gene

Sequence variations from dbSNP and Humsavar for SAMM50 Gene

SNP ID Clin Chr 22 pos Sequence Context AA Info Type MAF
rs7587 -- 43,990,401(-) CTGTC(A/G)CCTGT reference, synonymous-codon
rs8418 - 43,983,958(-) GCGGA(C/T)GCTTG reference, missense
rs10452 -- 43,983,942(-) CCCCC(A/G/T)AGGTA synonymous-codon, reference
rs14315 -- 43,976,752(-) ATGGC(A/G)TGCTG reference, synonymous-codon
rs736082 -- 43,985,665(+) attca(C/T)gcgca intron-variant

Structural Variations from Database of Genomic Variants (DGV) for SAMM50 Gene

Variant ID Type Subtype PubMed ID
nsv834218 CNV Loss 17160897
nsv834219 CNV Gain 17160897
nsv459895 CNV Gain 19166990
nsv471206 CNV Gain 18288195
nsv510517 CNV Loss 20534489
dgv1408e1 CNV Complex 17122850
esv2618097 CNV Insertion 19546169
nsv513593 CNV Insertion 21212237
esv2647300 CNV Deletion 19546169
esv2678443 CNV Deletion 23128226
nsv9914 CNV Loss 18304495
esv25385 CNV Loss 19812545

Relevant External Links for SAMM50 Gene

HapMap Linkage Disequilibrium report
SAMM50

Disorders for SAMM50 Gene

Relevant External Links for SAMM50

Genetic Association Database (GAD)
SAMM50
Human Genome Epidemiology (HuGE) Navigator
SAMM50
genes like me logo Genes that share disorders with SAMM50: view

No data available for UniProtKB/Swiss-Prot for SAMM50 Gene

Publications for SAMM50 Gene

  1. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4
  2. A genome annotation-driven approach to cloning the human ORFeome. (PMID: 15461802) Collins J.E. … Dunham I. (Genome Biol. 2004) 3 4
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4
  4. Dissection of the mitochondrial import and assembly pathway for human Tom40. (PMID: 15644312) Humphries A.D. … Ryan M.T. (J. Biol. Chem. 2005) 2 3
  5. The DNA sequence of human chromosome 22. (PMID: 10591208) Dunham I. … Wright H. (Nature 1999) 3 4

Products for SAMM50 Gene

Sources for SAMM50 Gene

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