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Aliases for SAMM50 Gene

Aliases for SAMM50 Gene

  • SAMM50 Sorting And Assembly Machinery Component 2 3 5
  • Transformation-Related Gene 3 Protein 3 4
  • SAM50 3 4
  • TRG-3 3 4
  • Sorting And Assembly Machinery Component 50 Homolog (S. Cerevisiae) 2
  • Sorting And Assembly Machinery 50kDa 3
  • YNL026W 3
  • CGI-51 3
  • TOB55 3
  • OMP85 3

External Ids for SAMM50 Gene

Previous GeneCards Identifiers for SAMM50 Gene

  • GC22P042677
  • GC22P044342
  • GC22P027305

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 Mitochondrial protein import and Transport to the Golgi and subsequent modification.

UniProtKB/Swiss-Prot for SAMM50 Gene

  • Plays a crucial role in the maintenance of the structure of mitochondrial cristae and the proper assembly of the mitochondrial respiratory chain complexes (PubMed:22252321, PubMed:25781180). Required for the assembly of TOMM40 into the TOM complex (PubMed:15644312).

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

Regulatory Elements for SAMM50 Gene

Enhancers for SAMM50 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around SAMM50 on UCSC Golden Path with GeneCards custom track

Promoters for SAMM50 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around SAMM50 on UCSC Golden Path with GeneCards custom track

Genomic Location for SAMM50 Gene

Chromosome:
22
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

Genes around SAMM50 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SAMM50 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SAMM50 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence 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 mitochondrial contact site and cristae organizing system (MICOS) complex, composed of at least MINOS1/MIC10, CHCHD3/MIC19, CHCHD6/MIC25, APOOL/MIC27, IMMT/MIC60, APOO/MIC23/MIC26 and QIL1/MIC13 (PubMed:25781180, PubMed:25997101). This complex was also known under the names MINOS or MitOS complex. The MICOS complex associates with mitochondrial outer membrane proteins SAMM50, MTX1, MTX2 and DNAJC11, mitochondrial inner membrane protein TMEM11 and with HSPA9 (PubMed:25781180, PubMed:25997101). Found in a complex with IMMT/MIC60 and CHCHD3/MIC19 termed mitochondrial intermembrane space bridging (MIB) complex. Interacts with IMMT/MIC60 (PubMed:25997101). Interacts with CHCHD3/MIC19 (PubMed:21081504).

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:
REFSEQ proteins:

No data available for DME Specific Peptides for SAMM50 Gene

Domains & Families for SAMM50 Gene

Protein Domains for SAMM50 Gene

Suggested Antigen Peptide Sequences for SAMM50 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9Y512

UniProtKB/Swiss-Prot:

SAM50_HUMAN :
  • 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.
  • Belongs to the SAM50/omp85 family.
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.
  • Contains 1 POTRA domain.
Family:
  • Belongs to the SAM50/omp85 family.
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:
Plays a crucial role in the maintenance of the structure of mitochondrial cristae and the proper assembly of the mitochondrial respiratory chain complexes (PubMed:22252321, PubMed:25781180). Required for the assembly of TOMM40 into the TOM complex (PubMed:15644312).
genes like me logo Genes that share phenotypes with SAMM50: view

Animal Model Products

CRISPR Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets 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. Mitochondrion.

Subcellular locations from

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

Gene Ontology (GO) - Cellular Components for SAMM50 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IEA,IDA 15644312
GO:0005741 mitochondrial outer membrane IDA 15644312
GO:0005743 mitochondrial inner membrane IEA --
GO:0019867 outer membrane IEA --
GO:0070062 extracellular exosome IDA 19056867
genes like me logo Genes that share ontologies with SAMM50: view

Pathways & Interactions 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:0033108 mitochondrial respiratory chain complex assembly IMP 22252321
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

No data available for SIGNOR curated interactions for SAMM50 Gene

Drugs & Compounds for SAMM50 Gene

No Compound Related Data Available

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 (x4.4).

Protein differential expression in normal tissues from HIPED for SAMM50 Gene

This gene is overexpressed in Nasal epithelium (43.5).

Integrated Proteomics: protein expression in normal tissues and cell lines 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 expression patterns with SAMM50: view

Protein tissue co-expression partners for SAMM50 Gene

- Elite partner

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA Expression by UniProt/SwissProt for SAMM50 Gene

Orthologs for SAMM50 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for SAMM50 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia SAMM50 35
  • 86.92 (n)
  • 95.74 (a)
SAMM50 36
  • 93 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SAMM50 35
  • 89.2 (n)
  • 97.23 (a)
SAMM50 36
  • 97 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Samm50 35
  • 85.15 (n)
  • 95.95 (a)
Samm50 16
Samm50 36
  • 96 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia SAMM50 35
  • 99.5 (n)
  • 99.36 (a)
SAMM50 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Samm50 35
  • 85.22 (n)
  • 95.1 (a)
oppossum
(Monodelphis domestica)
Mammalia SAMM50 36
  • 92 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SAMM50 36
  • 91 (a)
OneToOne
chicken
(Gallus gallus)
Aves SAMM50 35
  • 81.81 (n)
  • 91.68 (a)
SAMM50 36
  • 91 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SAMM50 36
  • 90 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia MGC76027 35
samm50 35
  • 74.57 (n)
  • 88.46 (a)
African clawed frog
(Xenopus laevis)
Amphibia MGC68698 35
zebrafish
(Danio rerio)
Actinopterygii samm50 35
  • 73.49 (n)
  • 84.01 (a)
zgc55803 35
samm50 36
  • 84 (a)
OneToMany
samm50l 36
  • 78 (a)
OneToMany
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.518 35
fruit fly
(Drosophila melanogaster)
Insecta CG7639 36
  • 34 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea gop-3 35
  • 45.92 (n)
  • 34.8 (a)
gop-3 36
  • 33 (a)
OneToOne
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AGR392C 35
  • 44.38 (n)
  • 32.56 (a)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0E08735g 35
  • 44.39 (n)
  • 29.7 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes SAM50 35
  • 41.13 (n)
  • 34.2 (a)
SAM50 36
  • 24 (a)
OneToOne
SAM50 38
thale cress
(Arabidopsis thaliana)
eudicotyledons AT3G11070 35
  • 42.06 (n)
  • 32.84 (a)
rice
(Oryza sativa)
Liliopsida Os05g0470800 35
  • 39.8 (n)
  • 31.84 (a)
bread mold
(Neurospora crassa)
Ascomycetes NCU05593 35
  • 44.36 (n)
  • 37.47 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes sam50 35
  • 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
rs8418 - 43,983,958(-) GCGGA(C/T)GCTTG reference, missense
rs3761472 - 43,972,242(+) TGATG(A/G)CGCAC reference, missense
rs7587 -- 43,990,401(-) CTGTC(A/G)CCTGT reference, synonymous-codon
rs10452 -- 43,983,942(-) CCCCC(A/G/T)AGGTA reference, synonymous-codon
rs14315 -- 43,976,752(-) ATGGC(A/G)TGCTG reference, synonymous-codon

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

Variation tolerance for SAMM50 Gene

Residual Variation Intolerance Score: 8.95% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 9.36; 88.42% of all genes are more intolerant (likely to be disease-causing)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Relevant External Links for SAMM50 Gene

Disorders for SAMM50 Gene

Relevant External Links for SAMM50

Genetic Association Database (GAD)
SAMM50
Human Genome Epidemiology (HuGE) Navigator
SAMM50
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SAMM50

No disorders were found for SAMM50 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for SAMM50 Gene

Publications for SAMM50 Gene

  1. 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 4 67
  2. Detailed analysis of the human mitochondrial contact site complex indicate a hierarchy of subunits. (PMID: 25781180) Ott C. … Kozjak-Pavlovic V. (PLoS ONE 2015) 3
  3. Characterization of the Cardiac Overexpression of HSPB2 Reveals Mitochondrial and Myogenic Roles Supported by a Cardiac HspB2 Interactome. (PMID: 26465331) Grose J.H. … Benjamin I.J. (PLoS ONE 2015) 3
  4. A human interactome in three quantitative dimensions organized by stoichiometries and abundances. (PMID: 26496610) Hein M.Y. … Mann M. (Cell 2015) 3
  5. TIMMDC1/C3orf1 functions as a membrane-embedded mitochondrial complex I assembly factor through association with the MCIA complex. (PMID: 24344204) Guarani V. … Harper J.W. (Mol. Cell. Biol. 2014) 3

Products for SAMM50 Gene

Sources for SAMM50 Gene

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