Human Gene SAMM50 (uc003bej.3)
  Description: Homo sapiens sorting and assembly machinery component 50 homolog (S. cerevisiae) (SAMM50), mRNA.
RefSeq Summary (NM_015380): 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].
Transcript (Including UTRs)
   Position: hg19 chr22:44,351,261-44,392,412 Size: 41,152 Total Exon Count: 15 Strand: +
Coding Region
   Position: hg19 chr22:44,351,458-44,392,263 Size: 40,806 Coding Exon Count: 15 

Page IndexSequence and LinksUniProtKB CommentsPrimersGenetic AssociationsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr22:44,351,261-44,392,412)mRNA (may differ from genome)Protein (469 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGeneCardsGeneNetwork
H-INVHGNCHPRDLynxMGIneXtProt
OMIMPubMedReactomeTreefamUniProtKBWikipedia
BioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: SAM50_HUMAN
DESCRIPTION: RecName: Full=Sorting and assembly machinery component 50 homolog; AltName: Full=Transformation-related gene 3 protein; Short=TRG-3;
FUNCTION: May be required for the assembly pathway of mitochondrial outer membrane proteins (By similarity).
SUBUNIT: Associates with the MINOS/MitOS complex, that includes IMMT, HSPA9 and CHCHD3.
SUBCELLULAR LOCATION: Mitochondrion outer membrane; Multi-pass membrane protein. Cytoplasm (By similarity).
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 (By similarity).
SIMILARITY: Belongs to the SAM50/omp85 family.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): SAMM50
CDC HuGE Published Literature: SAMM50
Positive Disease Associations: Coronary Disease , plasma levels of liver enzymes
Related Studies:
  1. Coronary Disease
    , , . [PubMed 0]
  2. Coronary Disease
    , , . [PubMed 0]
  3. plasma levels of liver enzymes
    Yuan ,et al. 2008, Population-based genome-wide association studies reveal six loci influencing plasma levels of liver enzymes, American journal of human genetics 2008 83- 4 : 520-8. [PubMed 18940312]
           more ... click here to view the complete list

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 41.26 RPKM in Muscle - Skeletal
Total median expression: 893.68 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -92.00197-0.467 Picture PostScript Text
3' UTR -47.42149-0.318 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR000184 - Bac_surfAg_D15

Pfam Domains:
PF01103 - Surface antigen

ModBase Predicted Comparative 3D Structure on Q9Y512
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologGenome BrowserGenome BrowserGenome BrowserNo ortholog
Gene Details  Gene DetailsGene Details 
Gene Sorter  Gene SorterGene Sorter 
  EnsemblFlyBaseWormBase 
  Protein SequenceProtein SequenceProtein Sequence 
  AlignmentAlignmentAlignment 

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005515 protein binding

Biological Process:
GO:0033108 mitochondrial respiratory chain complex assembly
GO:0042407 cristae formation
GO:0045040 protein import into mitochondrial outer membrane

Cellular Component:
GO:0001401 mitochondrial sorting and assembly machinery complex
GO:0005737 cytoplasm
GO:0005739 mitochondrion
GO:0005741 mitochondrial outer membrane
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0019867 outer membrane
GO:0070062 extracellular exosome


-  Descriptions from all associated GenBank mRNAs
  AK308995 - Homo sapiens cDNA, FLJ99036.
BC011681 - Homo sapiens sorting and assembly machinery component 50 homolog (S. cerevisiae), mRNA (cDNA clone MGC:19651 IMAGE:3010765), complete cds.
AK001087 - Homo sapiens cDNA FLJ10225 fis, clone HEMBB1000036.
AY189688 - Homo sapiens transformation-related protein 3 mRNA, complete cds.
AF151809 - Homo sapiens CGI-51 protein mRNA, complete cds.
BC007830 - Homo sapiens sorting and assembly machinery component 50 homolog (S. cerevisiae), mRNA (cDNA clone MGC:14085 IMAGE:3635175), complete cds.
JD129560 - Sequence 110584 from Patent EP1572962.
JD406933 - Sequence 387957 from Patent EP1572962.
AK222657 - Homo sapiens mRNA for CGI-51 protein variant, clone: CBL08016.
LF337504 - JP 2014500723-A/145007: Polycomb-Associated Non-Coding RNAs.
BC015200 - Homo sapiens sorting and assembly machinery component 50 homolog (S. cerevisiae), mRNA (cDNA clone MGC:14783 IMAGE:4333051), complete cds.
AK312773 - Homo sapiens cDNA, FLJ93188.
AK297770 - Homo sapiens cDNA FLJ55111 complete cds, highly similar to Sorting and assembly machinery component 50 homolog.
JD419552 - Sequence 400576 from Patent EP1572962.
CR456483 - Homo sapiens dJ796I17.2 full length open reading frame (ORF) cDNA clone (cDNA clone C22ORF:pGEM.dJ796I17.2.V2).
CU013321 - Homo sapiens SAMM50, mRNA (cDNA clone IMAGE:100000195), complete cds, without stop codon, in Gateway system.
DQ896401 - Synthetic construct Homo sapiens clone IMAGE:100010861; FLH193990.01L; RZPDo839E0369D sorting and assembly machinery component 50 homolog (S. cerevisiae) (SAMM50) gene, encodes complete protein.
DQ893124 - Synthetic construct clone IMAGE:100005754; FLH193994.01X; RZPDo839E0379D sorting and assembly machinery component 50 homolog (S. cerevisiae) (SAMM50) gene, encodes complete protein.
CU013033 - Homo sapiens SAMM50, mRNA (cDNA clone IMAGE:100000291), complete cds, with stop codon, in Gateway system.
AB463278 - Synthetic construct DNA, clone: pF1KB8447, Homo sapiens SAMM50 gene for sorting and assembly machinery component 50 homolog, without stop codon, in Flexi system.
CU677235 - Synthetic construct Homo sapiens gateway clone IMAGE:100017335 5' read SAMM50 mRNA.
KJ898552 - Synthetic construct Homo sapiens clone ccsbBroadEn_07946 SAMM50 gene, encodes complete protein.
KJ906101 - Synthetic construct Homo sapiens clone ccsbBroadEn_15771 SAMM50 gene, encodes complete protein.
LF337505 - JP 2014500723-A/145008: Polycomb-Associated Non-Coding RNAs.
LF337506 - JP 2014500723-A/145009: Polycomb-Associated Non-Coding RNAs.
LF337507 - JP 2014500723-A/145010: Polycomb-Associated Non-Coding RNAs.
LF337508 - JP 2014500723-A/145011: Polycomb-Associated Non-Coding RNAs.
LF337509 - JP 2014500723-A/145012: Polycomb-Associated Non-Coding RNAs.
AK097015 - Homo sapiens cDNA FLJ39696 fis, clone SMINT2011033, highly similar to Sorting and assembly machinery component 50 homolog.
LF337510 - JP 2014500723-A/145013: Polycomb-Associated Non-Coding RNAs.
LF337511 - JP 2014500723-A/145014: Polycomb-Associated Non-Coding RNAs.
AK091282 - Homo sapiens cDNA FLJ33963 fis, clone CTONG2018976.
AK093144 - Homo sapiens cDNA FLJ35825 fis, clone TESTI2006360.
AX747952 - Sequence 1477 from Patent EP1308459.
LF337513 - JP 2014500723-A/145016: Polycomb-Associated Non-Coding RNAs.
AK124895 - Homo sapiens cDNA FLJ42905 fis, clone BRHIP3015751.
JD204502 - Sequence 185526 from Patent EP1572962.
JD440537 - Sequence 421561 from Patent EP1572962.
MA573081 - JP 2018138019-A/145007: Polycomb-Associated Non-Coding RNAs.
MA573082 - JP 2018138019-A/145008: Polycomb-Associated Non-Coding RNAs.
MA573083 - JP 2018138019-A/145009: Polycomb-Associated Non-Coding RNAs.
MA573084 - JP 2018138019-A/145010: Polycomb-Associated Non-Coding RNAs.
MA573085 - JP 2018138019-A/145011: Polycomb-Associated Non-Coding RNAs.
MA573086 - JP 2018138019-A/145012: Polycomb-Associated Non-Coding RNAs.
MA573087 - JP 2018138019-A/145013: Polycomb-Associated Non-Coding RNAs.
MA573088 - JP 2018138019-A/145014: Polycomb-Associated Non-Coding RNAs.
MA573090 - JP 2018138019-A/145016: Polycomb-Associated Non-Coding RNAs.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein Q9Y512 (Reactome details) participates in the following event(s):

R-HSA-1268025 SAM50 complex inserts proteins into mitochondrial outer membrane
R-HSA-8949613 Cristae formation
R-HSA-1592230 Mitochondrial biogenesis
R-HSA-1268020 Mitochondrial protein import
R-HSA-1852241 Organelle biogenesis and maintenance
R-HSA-392499 Metabolism of proteins

-  Other Names for This Gene
  Alternate Gene Symbols: CGI-51, NM_015380, NP_056195, Q53HC4, Q56VW7, Q969Y9, Q96I46, Q9NW85, Q9UQM9, Q9Y512, SAM50, SAM50_HUMAN, TRG3
UCSC ID: uc003bej.3
RefSeq Accession: NM_015380
Protein: Q9Y512 (aka SAM50_HUMAN or SA50_HUMAN)
CCDS: CCDS14055.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_015380.4
exon count: 15CDS single in 3' UTR: no RNA size: 1773
ORF size: 1410CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 2848.00frame shift in genome: no % Coverage: 99.04
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.