Human Gene SAMM50 (ENST00000350028.5_4) from GENCODE V47lift37

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Description: SAMM50 sorting and assembly machinery component (from RefSeq NM_015380.5)
Gencode Transcript: ENST00000350028.5_4
Gencode Gene: ENSG00000100347.15_8
Transcript (Including UTRs)
Position: hg19 chr22:44,351,322-44,392,409 Size: 41,088 Total Exon Count: 15 Strand: +
Coding Region
Position: hg19 chr22:44,351,458-44,392,263 Size: 40,806 Coding Exon Count: 15

Page Index	Sequence and Links	UniProtKB Comments	Primers	CTD	Gene Alleles
RNA-Seq Expression	Microarray Expression	RNA Structure	Protein Structure	Other Species	GO Annotations
mRNA Descriptions	Pathways	Other Names	Model Information	Methods

Data last updated at UCSC: 2024-08-22 23:36:26

Sequence and Links to Tools and Databases

Genomic Sequence (chr22:44,351,322-44,392,409)			mRNA (may differ from genome)		Protein (469 aa)
Gene Sorter	Genome Browser	Other Species FASTA	Gene interactions	Table Schema	AlphaFold
BioGPS	Ensembl	Entrez Gene	ExonPrimer	GeneCards	HGNC
MGI	OMIM	PubMed	Reactome	UniProtKB	Wikipedia
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

Comparative Toxicogenomics Database (CTD)


	The following chemicals interact with this gene D000082 Acetaminophen C023514 2,6-dinitrotoluene D002794 Choline D002994 Clofibrate D019327 Copper Sulfate D016572 Cyclosporine D003993 Dibutyl Phthalate D005492 Folic Acid D006830 Hydralazine D015474 Isotretinoin more ... click here to view the complete list

Common Gene Haplotype Alleles


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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


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mRNA Secondary Structure of 3' and 5' UTRs

Region	Fold Energy	Bases	Energy/Base	Display As
5' UTR	-62.30	136	-0.458	Picture	PostScript	Text
3' UTR	-44.50	146	-0.305	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 - Omp85 superfamily domain

SCOP Domains:
51338 - Composite domain of metallo-dependent hydrolases

ModBase Predicted Comparative 3D Structure on Q9Y512


Front	Top	Side

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.

Mouse	Rat	Zebrafish	D. melanogaster	C. elegans	S. cerevisiae
No ortholog	No ortholog	No ortholog	No ortholog	No ortholog	Genome Browser
Gene Details	Gene Details		Gene Details		Gene Details
Gene Sorter	Gene Sorter		Gene Sorter		Gene Sorter
	RGD	Ensembl			SGD
					Protein Sequence
					Alignment

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, ENST00000350028.1, ENST00000350028.2, ENST00000350028.3, ENST00000350028.4, NM_015380, Q53HC4, Q56VW7, Q969Y9, Q96I46, Q9NW85, Q9UQM9, Q9Y512, SAM50, SAM50_HUMAN, TRG3, uc317xxv.1, uc317xxv.2 UCSC ID: ENST00000350028.5_4 RefSeq Accession: NM_015380.5 Protein: Q9Y512 (aka SAM50_HUMAN or SA50_HUMAN)

Gene Model Information


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Methods, Credits, and Use Restrictions


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