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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 Component 50 Homolog 3
  • Sorting And Assembly Machinery 50kDa 3
  • YNL026W 3
  • CGI-51 3
  • OMP85 3
  • TOB55 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 Metabolism of proteins and Mitochondrial protein import.

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

Additional gene information for SAMM50 Gene

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

Genomics for SAMM50 Gene

GeneHancer (GH) Regulatory Elements for SAMM50 Gene

Promoters and enhancers for SAMM50 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH22J043954 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 681.4 +0.3 313 3.2 HDGF PKNOX1 FOXA2 SMAD1 ARID4B SIN3A DMAP1 ZNF2 YY1 POLR2B SAMM50 GC22M043953 GC22P043958 RPL35AP36 PNPLA3
GH22J043995 Enhancer 0.8 Ensembl ENCODE 29.6 +41.0 40950 1.7 ZNF687 ELF1 RELA GABPA POLR2A IKZF1 EED ZNF143 ETV6 MLLT1 SAMM50 PIR60090 GC22P043958
GH22J044020 Enhancer 1.4 FANTOM5 Ensembl ENCODE dbSUPER 11.7 +66.3 66330 2.2 ZNF473 ZSCAN4 INSM2 GLI4 ZEB1 ZNF335 ZNF366 FOS YY2 ZNF662 ENSG00000261251 LOC100506679 SAMM50 RPL35AP36 RTL6 SHISAL1 PHF21B TTLL1 PARVB GC22M044040
GH22J043985 Enhancer 0.8 ENCODE 19.3 +30.2 30182 0.8 HDAC1 PKNOX1 TAF9B ARNT ATF7 REST ELF1 SMARCA4 MEIS2 BACH1 SAMM50 RPL35AP36 PNPLA3 PIR60090 GC22P043958
GH22J044081 Enhancer 0.9 FANTOM5 ENCODE 11.5 +126.0 126045 0.3 CTCF ZNF654 TRIM22 FEZF1 ZIC2 IRF4 RAD21 XRCC5 POLR2A SMC3 SAMM50 RPL35AP36 ENSG00000279175 GC22M044040 PARVB
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around SAMM50 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the SAMM50 gene promoter:
  • MEF-2A
  • aMEF-2
  • AREB6
  • NRSF form 2
  • NRSF form 1
  • Arnt
  • AhR
  • YY1
  • C/EBPbeta
  • AML1a

Genomic Locations for SAMM50 Gene

Genomic Locations for SAMM50 Gene
chr22:43,955,381-44,010,531
(GRCh38/hg38)
Size:
55,151 bases
Orientation:
Plus strand
chr22:44,351,261-44,406,411
(GRCh37/hg19)
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 and MTX2 (together described as components of the mitochondrial outer membrane sorting assembly machinery (SAM) complex) and DNAJC11, mitochondrial inner membrane protein TMEM11 and with HSPA9 (PubMed:25781180, PubMed:25997101). The MICOS and SAM complexes together with DNAJC11 are part of a large protein complex spanning both membranes termed the mitochondrial intermembrane space bridging (MIB) complex (PubMed:25997101). Interacts with CHCHD3/MIC19 (PubMed:21081504).

neXtProt entry for SAMM50 Gene

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

Gene Families for SAMM50 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Transporters

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.
Family:
  • Belongs to the SAM50/omp85 family.
genes like me logo Genes that share domains with SAMM50: view

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).

Phenotypes From GWAS Catalog for SAMM50 Gene

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

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SAMM50

No data available for Enzyme Numbers (IUBMB) , 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for SAMM50 gene
Compartment Confidence
extracellular 5
mitochondrion 5
cytosol 3
peroxisome 1
nucleus 1
endoplasmic reticulum 1

Subcellular locations from the

Human Protein Atlas (HPA)

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:0005737 cytoplasm IEA --
GO:0005739 mitochondrion IDA,IEA 15644312
GO:0005741 mitochondrial outer membrane IDA 15644312
GO:0005743 mitochondrial inner membrane IEA --
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:0042407 cristae formation IMP 22252321
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

mRNA/cDNA for SAMM50 Gene

Unigene Clusters for SAMM50 Gene

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

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SAMM50

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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 and MOPED for SAMM50 Gene



Protein tissue co-expression partners for SAMM50 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of SAMM50 Gene:

SAMM50

SOURCE GeneReport for Unigene cluster for SAMM50 Gene:

Hs.505824

Evidence on tissue expression from TISSUES for SAMM50 Gene

  • Nervous system(4.9)
  • Skin(4.5)
  • Liver(4.4)
  • Muscle(4.3)
  • Lung(2.1)
genes like me logo Genes that share expression patterns with SAMM50: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer 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
chimpanzee
(Pan troglodytes)
Mammalia SAMM50 34 33
  • 99.5 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia SAMM50 34
  • 92 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SAMM50 34
  • 91 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SAMM50 34 33
  • 89.2 (n)
OneToOne
cow
(Bos Taurus)
Mammalia SAMM50 34 33
  • 86.92 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Samm50 33
  • 85.22 (n)
mouse
(Mus musculus)
Mammalia Samm50 16 34 33
  • 85.15 (n)
chicken
(Gallus gallus)
Aves SAMM50 34 33
  • 81.81 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SAMM50 34
  • 90 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia samm50 33
  • 74.57 (n)
MGC76027 33
African clawed frog
(Xenopus laevis)
Amphibia MGC68698 33
zebrafish
(Danio rerio)
Actinopterygii samm50l 34
  • 78 (a)
OneToMany
samm50 34 33
  • 73.49 (n)
OneToMany
zgc55803 33
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.518 33
fruit fly
(Drosophila melanogaster)
Insecta CG7639 34
  • 34 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea gop-3 34 33
  • 45.92 (n)
OneToOne
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0E08735g 33
  • 44.39 (n)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AGR392C 33
  • 44.38 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes SAM50 36 34 33
  • 41.13 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT3G11070 33
  • 42.06 (n)
rice
(Oryza sativa)
Liliopsida Os05g0470800 33
  • 39.8 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU05593 33
  • 44.36 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes sam50 33
  • 44.06 (n)
Species where no ortholog for SAMM50 was found in the sources mined by GeneCards:
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for SAMM50: view image

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 Variation AA Info Type
rs1000020388 -- 43,991,274(+) C/G intron_variant
rs1000045511 -- 43,977,231(+) T/G intron_variant
rs1000050112 -- 43,991,081(+) A/G intron_variant
rs1000151542 -- 43,959,542(+) A/T intron_variant
rs1000157701 -- 43,976,390(+) T/C intron_variant

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

Variant ID Type Subtype PubMed ID
esv25385 CNV loss 19812545
esv2618097 CNV insertion 19546169
esv2647300 CNV deletion 19546169
esv2678443 CNV deletion 23128226
esv2758840 CNV loss 17122850
esv3647884 CNV loss 21293372
nsv1056412 CNV gain 25217958
nsv459895 CNV gain 19166990
nsv471206 CNV gain 18288195
nsv510517 OTHER sequence alteration 20534489
nsv513593 CNV insertion 21212237
nsv589101 CNV gain 21841781
nsv834218 CNV loss 17160897
nsv834219 CNV gain 17160897
nsv979684 CNV duplication 23825009
nsv9914 CNV loss 18304495

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)

Additional Variant Information for SAMM50 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
SAMM50

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SAMM50 Gene

Disorders for SAMM50 Gene

Additional Disease Information for SAMM50

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

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 AD … Ryan MT (The Journal of biological chemistry 2005) 2 3 4 58
  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 4 58
  3. MINOS1 is a conserved component of mitofilin complexes and required for mitochondrial function and cristae organization. (PMID: 22114354) Alkhaja AK … Deckers M (Molecular biology of the cell 2012) 3 4 58
  4. Sam50 functions in mitochondrial intermembrane space bridging and biogenesis of respiratory complexes. (PMID: 22252321) Ott C … Kozjak-Pavlovic V (Molecular and cellular biology 2012) 3 4 58
  5. ChChd3, an inner mitochondrial membrane protein, is essential for maintaining crista integrity and mitochondrial function. (PMID: 21081504) Darshi M … Taylor SS (The Journal of biological chemistry 2011) 3 4 58

Products for SAMM50 Gene

Sources for SAMM50 Gene

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