Human Gene SMC6 (ENST00000448223.7_7) from GENCODE V47lift37
  Description: structural maintenance of chromosomes 6, transcript variant 1 (from RefSeq NM_001142286.2)
Gencode Transcript: ENST00000448223.7_7
Gencode Gene: ENSG00000163029.16_15
Transcript (Including UTRs)
   Position: hg19 chr2:17,845,079-17,935,077 Size: 89,999 Total Exon Count: 28 Strand: -
Coding Region
   Position: hg19 chr2:17,846,766-17,927,213 Size: 80,448 Coding Exon Count: 26 

Page IndexSequence and LinksUniProtKB CommentsPrimersCTDGene Alleles
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr2:17,845,079-17,935,077)mRNA (may differ from genome)Protein (1091 aa)
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-  Comments and Description Text from UniProtKB
  ID: SMC6_HUMAN
DESCRIPTION: RecName: Full=Structural maintenance of chromosomes protein 6; Short=SMC protein 6; Short=SMC-6; Short=hSMC6;
FUNCTION: Core component of the SMC5-SMC6 complex, a complex involved in 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). Required for recruitment of telomeres to PML nuclear bodies.
SUBUNIT: Forms a heterodimer with SMC5. Component of the SMC5-SMC6 complex which consists at least of SMC5, SMC6, NSMCE2, NSMCE1, NSMCE4A or EID3 and NDNL2.
INTERACTION: Q8WV22:NSMCE1; NbExp=7; IntAct=EBI-605415, EBI-2557372; Q96MF7:NSMCE2; NbExp=2; IntAct=EBI-605415, EBI-2557388; Q8IY18:SMC5; NbExp=3; IntAct=EBI-605415, EBI-605405;
SUBCELLULAR LOCATION: Nucleus. Chromosome. Chromosome, telomere. Note=Associates with chromatin. Localizes to PML nuclear bodies in ALT cell lines.
TISSUE SPECIFICITY: Widely expressed. Overexpressed in testis.
DOMAIN: The flexible hinge domain, which separates the large intramolecular coiled coil regions, allows the heterotypic interaction with the corresponding domain of SMC5, forming a V- shaped heterodimer (By similarity).
PTM: Sumoylated by NSMCE2/MMS21.
PTM: Ubiquitinated.
SIMILARITY: Belongs to the SMC family. SMC6 subfamily.
SEQUENCE CAUTION: Sequence=AAH32675.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence; Sequence=BAB15236.1; Type=Frameshift; Positions=718;

-  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           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: 20.12 RPKM in Testis
Total median expression: 248.87 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 -117.00277-0.422 Picture PostScript Text
3' UTR -408.701687-0.242 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
IPR003395 - RecF/RecN/SMC

Pfam Domains:
PF02463 - RecF/RecN/SMC N terminal domain
PF13476 - AAA domain

SCOP Domains:
52540 - P-loop containing nucleoside triphosphate hydrolases

ModBase Predicted Comparative 3D Structure on Q96SB8
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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 orthologNo orthologNo orthologNo orthologNo ortholog
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-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0000166 nucleotide binding
GO:0005515 protein binding
GO:0005524 ATP binding
GO:0031625 ubiquitin protein ligase binding

Biological Process:
GO:0000722 telomere maintenance via recombination
GO:0000724 double-strand break repair via homologous recombination
GO:0006281 DNA repair
GO:0006310 DNA recombination
GO:0006974 cellular response to DNA damage stimulus
GO:0051984 positive regulation of chromosome segregation
GO:0090398 cellular senescence

Cellular Component:
GO:0000781 chromosome, telomeric region
GO:0000803 sex chromosome
GO:0005622 intracellular
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005694 chromosome
GO:0016605 PML body
GO:0016607 nuclear speck
GO:0030915 Smc5-Smc6 complex
GO:0035061 interchromatin granule
GO:0035861 site of double-strand break


-  Descriptions from all associated GenBank mRNAs
  AK292421 - Homo sapiens cDNA FLJ78755 complete cds, highly similar to Homo sapiens SMC6 structural maintenance of chromosomes 6-like 1(SMC6L1), mRNA.
AM392534 - Synthetic construct Homo sapiens clone IMAGE:100001751 for hypothetical protein (SMC6 gene).
AL832979 - Homo sapiens mRNA; cDNA DKFZp666P102 (from clone DKFZp666P102).
AK025769 - Homo sapiens cDNA: FLJ22116 fis, clone HEP18520.
BC039828 - Homo sapiens structural maintenance of chromosomes 6, mRNA (cDNA clone MGC:48735 IMAGE:5724409), complete cds.
AK124545 - Homo sapiens cDNA FLJ42554 fis, clone BRACE3005430.
JD110596 - Sequence 91620 from Patent EP1572962.
JD208443 - Sequence 189467 from Patent EP1572962.
AL136544 - Homo sapiens mRNA; cDNA DKFZp761N0411 (from clone DKFZp761N0411).
AJ310551 - Homo sapiens mRNA for SMC6 protein.
MF624758 - Homo sapiens cell line HepG2 structural maintenance of chromosomes 6 (SMC6) mRNA, complete cds.
MF624761 - Homo sapiens cell line 293T structural maintenance of chromosomes 6 (SMC6) mRNA, complete cds.
AB463292 - Synthetic construct DNA, clone: pF1KB8642, Homo sapiens SMC6 gene for protein for structural maintenance of chromosomes 6, without stop codon, in Flexi system.
AK098325 - Homo sapiens cDNA FLJ41006 fis, clone UTERU2017632, weakly similar to DNA REPAIR PROTEIN RAD18.
BC022998 - Homo sapiens, clone IMAGE:4386550, mRNA.
BC011389 - Homo sapiens, clone IMAGE:3874463, mRNA.
BC032675 - Homo sapiens structural maintenance of chromosomes 6, mRNA (cDNA clone IMAGE:5575553), partial cds.
AK092853 - Homo sapiens cDNA FLJ35534 fis, clone SPLEN2002385, weakly similar to DNA REPAIR PROTEIN RAD18.
AX747768 - Sequence 1293 from Patent EP1308459.
JD255268 - Sequence 236292 from Patent EP1572962.
JD223133 - Sequence 204157 from Patent EP1572962.

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

Protein Q96SB8 (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: A8K8Q6, D6W518, ENST00000448223.1, ENST00000448223.2, ENST00000448223.3, ENST00000448223.4, ENST00000448223.5, ENST00000448223.6, NM_001142286, Q05BV4, Q96SB8, Q9H0X3, Q9H6M0, SMC6L1, SMC6_HUMAN, uc320pur.1, uc320pur.2
UCSC ID: ENST00000448223.7_7
RefSeq Accession: NM_001142286.2
Protein: Q96SB8 (aka SMC6_HUMAN)

-  Gene Model Information
  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.