Human Gene NSMCE3 (ENST00000332303.6) from GENCODE V44
  Description: Homo sapiens NSE3 homolog, SMC5-SMC6 complex component (NSMCE3), mRNA. (from RefSeq NM_138704)
RefSeq Summary (NM_138704): The protein encoded by this gene is part of the SMC5-6 chromatin reorganizing complex and is a member of the MAGE superfamily. This is an intronless gene. [provided by RefSeq, May 2011].
Gencode Transcript: ENST00000332303.6
Gencode Gene: ENSG00000185115.6
Transcript (Including UTRs)
   Position: hg38 chr15:29,264,989-29,269,822 Size: 4,834 Total Exon Count: 1 Strand: -
Coding Region
   Position: hg38 chr15:29,268,791-29,269,705 Size: 915 Coding Exon Count: 1 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsRNA-Seq Expression
Microarray ExpressionRNA StructureProtein StructureOther SpeciesGO AnnotationsmRNA Descriptions
PathwaysOther NamesMethods
Data last updated at UCSC: 2023-08-18 00:09:47

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr15:29,264,989-29,269,822)mRNA (may differ from genome)Protein (304 aa)
Gene SorterGenome BrowserOther Species FASTATable SchemaAlphaFoldBioGPS
EnsemblEntrez GeneExonPrimerGencodeGeneCardsHPRD
LynxMalacardsMGIneXtProtOMIMPubMed
ReactomeUniProtKBBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: MAGG1_HUMAN
DESCRIPTION: RecName: Full=Melanoma-associated antigen G1; AltName: Full=Hepatocellular carcinoma-associated protein 4; AltName: Full=MAGE-G1 antigen; AltName: Full=Necdin-like protein 2;
FUNCTION: Component of the SMC5-SMC6 complex, a complex involved in repair of DNA double-strand breaks by homologous recombination. The complex may promote sister chromatid homologous recombination by recruiting the SMC1-SMC3 cohesin complex to double-strand breaks. The complex is required for telomere maintenance via recombination in ALT (alternative lengthening of telomeres) cell lines and mediates sumoylation of shelterin complex (telosome) components which is proposed to lead to shelterin complex disassembly in ALT-associated PML bodies (APBs). In vitro enhances ubiquitin ligase activity of NSMCE1. Proposed to act through recruitment and/or stabilization of the Ubl-conjugating enzyme (E2) at the E3:substrate complex. May be a growth suppressor that facilitates the entry of the cell into cell cycle arrest.
SUBUNIT: Component of the SMC5-SMC6 complex which consists at least of SMC5, SMC6, NSMCE2, NSMCE1, NSMCE4A or EID3 and NDNL2. NSMCE1, NSMCE4A or EID3 and NDNL2 probably form a subcomplex that bridges the head domains of the SMC5:SMC6 heterodimer. Interacts with PJA1. Binds the C-terminus of E2F1 and NGFR (By similarity).
INTERACTION: Q8N140:EID3; NbExp=4; IntAct=EBI-2557356, EBI-744483; Q8WV22:NSMCE1; NbExp=15; IntAct=EBI-2557356, EBI-2557372; Q9NXX6:NSMCE4A; NbExp=3; IntAct=EBI-2557356, EBI-2557393; Q8NG27:PJA1; NbExp=2; IntAct=EBI-2557356, EBI-714606;
SUBCELLULAR LOCATION: Cytoplasm (By similarity). Nucleus. Chromosome, telomere (Probable).
TISSUE SPECIFICITY: Ubiquitous.
PTM: Phosphorylated upon DNA damage, probably by ATM or ATR.
SIMILARITY: Contains 1 MAGE domain.
SEQUENCE CAUTION: Sequence=BAB84964.1; Type=Frameshift; Positions=290;

-  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


-  MalaCards Disease Associations
  MalaCards Gene Search: NSMCE3
Diseases sorted by gene-association score: lung disease, immunodeficiency, and chromosome breakage syndrome* (1230), viral pneumonia (24), lung disease (19)
* = Manually curated disease association

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 27.43 RPKM in Cells - EBV-transformed lymphocytes
Total median expression: 484.52 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 -52.90117-0.452 Picture PostScript Text
3' UTR -940.703802-0.247 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
IPR002190 - MAGE

Pfam Domains:
PF01454 - MAGE family

Protein Data Bank (PDB) 3-D Structure
MuPIT help
3NW0 - X-ray


ModBase Predicted Comparative 3D Structure on Q96MG7
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-  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
Genome BrowserNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGI     
Protein Sequence     
Alignment     

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005515 protein binding
GO:0046983 protein dimerization activity

Biological Process:
GO:0006281 DNA repair
GO:0006310 DNA recombination
GO:0006974 cellular response to DNA damage stimulus
GO:0031398 positive regulation of protein ubiquitination
GO:0034644 cellular response to UV
GO:0040008 regulation of growth
GO:0071478 cellular response to radiation
GO:0072711 cellular response to hydroxyurea

Cellular Component:
GO:0000781 chromosome, telomeric region
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005694 chromosome
GO:0005737 cytoplasm
GO:0030915 Smc5-Smc6 complex


-  Descriptions from all associated GenBank mRNAs
  AK074138 - Homo sapiens mRNA for FLJ00211 protein.
JD442514 - Sequence 423538 from Patent EP1572962.
JD285469 - Sequence 266493 from Patent EP1572962.
JD265591 - Sequence 246615 from Patent EP1572962.
JD539761 - Sequence 520785 from Patent EP1572962.
JD173019 - Sequence 154043 from Patent EP1572962.
BC053999 - Homo sapiens necdin-like 2, mRNA (cDNA clone MGC:61635 IMAGE:5755143), complete cds.
BC041166 - Homo sapiens necdin-like 2, mRNA (cDNA clone MGC:48906 IMAGE:5730248), complete cds.
JD357711 - Sequence 338735 from Patent EP1572962.
JD363324 - Sequence 344348 from Patent EP1572962.
BC035458 - Homo sapiens necdin-like 2, mRNA (cDNA clone IMAGE:4751130).
AF490510 - Homo sapiens hepatocellular carcinoma-associated protein HCA4 mRNA, complete cds.
AK056957 - Homo sapiens cDNA FLJ32395 fis, clone SKMUS2000117, moderately similar to Homo sapiens MAGEF1 mRNA.
JD237657 - Sequence 218681 from Patent EP1572962.
JD369747 - Sequence 350771 from Patent EP1572962.
LF211169 - JP 2014500723-A/18672: Polycomb-Associated Non-Coding RNAs.
MA446746 - JP 2018138019-A/18672: Polycomb-Associated Non-Coding RNAs.
JD439617 - Sequence 420641 from Patent EP1572962.
KJ894316 - Synthetic construct Homo sapiens clone ccsbBroadEn_03710 NDNL2 gene, encodes complete protein.
JD158010 - Sequence 139034 from Patent EP1572962.
LF344384 - JP 2014500723-A/151887: Polycomb-Associated Non-Coding RNAs.
MA579961 - JP 2018138019-A/151887: Polycomb-Associated Non-Coding RNAs.

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

Protein Q96MG7 (Reactome details) participates in the following event(s):

R-HSA-3108212 SMC5-SMC6 Complex SUMOylates Cohesin with SUMO1
R-HSA-3108214 SUMOylation of DNA damage response and repair proteins
R-HSA-3108232 SUMO E3 ligases SUMOylate target proteins
R-HSA-2990846 SUMOylation
R-HSA-597592 Post-translational protein modification
R-HSA-392499 Metabolism of proteins

-  Other Names for This Gene
  Alternate Gene Symbols: ENST00000332303.1, ENST00000332303.2, ENST00000332303.3, ENST00000332303.4, ENST00000332303.5, HCA4, MAGEG1, MAGG1_HUMAN, NDNL2, NM_138704, Q8IW16, Q8TEI6, Q96MG7, Q9H214, uc001zco.1, uc001zco.2, uc001zco.3, uc001zco.4, uc001zco.5, uc001zco.6
UCSC ID: ENST00000332303.6
RefSeq Accession: NM_138704
Protein: Q96MG7 (aka MAGG1_HUMAN or MGG1_HUMAN)
CCDS: CCDS10023.1

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