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Aliases for SMC6 Gene

Aliases for SMC6 Gene

  • Structural Maintenance Of Chromosomes 6 2 3
  • SMC Protein 6 3 4
  • SMC6L1 3 4
  • SMC-6 3 4
  • HSMC6 3 4
  • SMC6 Structural Maintenance Of Chromosomes 6-Like 1 (Yeast) 2
  • SMC6 Structural Maintenance Of Chromosomes 6-Like 1 3

External Ids for SMC6 Gene

Previous HGNC Symbols for SMC6 Gene

  • SMC6L1

Previous GeneCards Identifiers for SMC6 Gene

  • GC02M017845

Summaries for SMC6 Gene

GeneCards Summary for SMC6 Gene

SMC6 (Structural Maintenance Of Chromosomes 6) is a Protein Coding gene. Among its related pathways are Transport to the Golgi and subsequent modification and SUMOylation.

UniProtKB/Swiss-Prot for SMC6 Gene

  • 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.

Gene Wiki entry for SMC6 Gene

No data available for Entrez Gene Summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SMC6 Gene

Genomics for SMC6 Gene

Regulatory Elements for SMC6 Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for SMC6 Gene

Chromosome:
2
Start:
17,663,812 bp from pter
End:
17,800,242 bp from pter
Size:
136,431 bases
Orientation:
Minus strand

Genomic View for SMC6 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for SMC6 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SMC6 Gene

Proteins for SMC6 Gene

  • Protein details for SMC6 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96SB8-SMC6_HUMAN
    Recommended name:
    Structural maintenance of chromosomes protein 6
    Protein Accession:
    Q96SB8
    Secondary Accessions:
    • A8K8Q6
    • D6W518
    • Q05BV4
    • Q9H0X3
    • Q9H6M0

    Protein attributes for SMC6 Gene

    Size:
    1091 amino acids
    Molecular mass:
    126326 Da
    Quaternary structure:
    • 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.
    SequenceCaution:
    • Sequence=AAH32675.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence.; Evidence={ECO:0000305}; Sequence=BAB15236.1; Type=Frameshift; Positions=718; Evidence={ECO:0000305};

    Alternative splice isoforms for SMC6 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SMC6 Gene

Proteomics data for SMC6 Gene at MOPED

Post-translational modifications for SMC6 Gene

Antibody Products

No data available for DME Specific Peptides for SMC6 Gene

Domains & Families for SMC6 Gene

Protein Domains for SMC6 Gene

Suggested Antigen Peptide Sequences for SMC6 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q96SB8

UniProtKB/Swiss-Prot:

SMC6_HUMAN :
  • 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.
  • Belongs to the SMC family. SMC6 subfamily.
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.
Family:
  • Belongs to the SMC family. SMC6 subfamily.
genes like me logo Genes that share domains with SMC6: view

Function for SMC6 Gene

Molecular function for SMC6 Gene

UniProtKB/Swiss-Prot 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.

Gene Ontology (GO) - Molecular Function for SMC6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 11408570
GO:0005524 ATP binding IEA --
GO:0031625 ubiquitin protein ligase binding IPI 25931565
genes like me logo Genes that share ontologies with SMC6: view

Phenotypes for SMC6 Gene

genes like me logo Genes that share phenotypes with SMC6: view

Animal Model Products

miRNA for SMC6 Gene

miRTarBase miRNAs that target SMC6

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for SMC6

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for SMC6 Gene

Localization for SMC6 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SMC6 Gene

Nucleus. Chromosome. Chromosome, telomere. Note=Associates with chromatin. Localizes to PML nuclear bodies in ALT cell lines.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for SMC6 Gene COMPARTMENTS Subcellular localization image for SMC6 gene
Compartment Confidence
nucleus 5

Gene Ontology (GO) - Cellular Components for SMC6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000781 chromosome, telomeric region IDA 17589526
GO:0000803 sex chromosome ISS --
GO:0005622 intracellular IDA --
GO:0005634 nucleus IDA 11408570
GO:0005654 nucleoplasm TAS --
genes like me logo Genes that share ontologies with SMC6: view

Pathways & Interactions for SMC6 Gene

genes like me logo Genes that share pathways with SMC6: view

Gene Ontology (GO) - Biological Process for SMC6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000722 telomere maintenance via recombination IMP 17589526
GO:0000724 double-strand break repair via homologous recombination --
GO:0006281 DNA repair IEA --
GO:0006974 cellular response to DNA damage stimulus IDA 11408570
GO:0016925 protein sumoylation TAS --
genes like me logo Genes that share ontologies with SMC6: view

No data available for SIGNOR curated interactions for SMC6 Gene

Drugs & Compounds for SMC6 Gene

(4) Drugs for SMC6 Gene - From: ApexBio

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
KPT-185 Pharma CRM1 inhibitor,selective and irrversible 0
KPT-276 Pharma 0
KPT-330 Pharma 0
Verdinexor (KPT-335) Pharma 0
genes like me logo Genes that share compounds with SMC6: view

Transcripts for SMC6 Gene

Unigene Clusters for SMC6 Gene

Structural maintenance of chromosomes 6:
Representative Sequences:

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for SMC6

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for SMC6 Gene

ExUns: 1a · 1b ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6a · 6b · 6c ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15a · 15b ^ 16 ^ 17 ^ 18 ^ 19a · 19b ^ 20 ^
SP1: -
SP2:
SP3: -
SP4: -
SP5: - -
SP6:
SP7:
SP8:

ExUns: 21 ^ 22 ^ 23 ^ 24 ^ 25 ^ 26a · 26b ^ 27 ^ 28a · 28b ^ 29a · 29b
SP1: - -
SP2:
SP3:
SP4:
SP5:
SP6: -
SP7:
SP8:

Relevant External Links for SMC6 Gene

GeneLoc Exon Structure for
SMC6
ECgene alternative splicing isoforms for
SMC6

Expression for SMC6 Gene

mRNA expression in normal human tissues for SMC6 Gene

Protein differential expression in normal tissues from HIPED for SMC6 Gene

This gene is overexpressed in Serum (52.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for SMC6 Gene



SOURCE GeneReport for Unigene cluster for SMC6 Gene Hs.526728

mRNA Expression by UniProt/SwissProt for SMC6 Gene

Q96SB8-SMC6_HUMAN
Tissue specificity: Widely expressed. Overexpressed in testis.
genes like me logo Genes that share expression patterns with SMC6: view

Protein tissue co-expression partners for SMC6 Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for SMC6 Gene

Orthologs for SMC6 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for SMC6 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia SMC6 35
  • 90.55 (n)
  • 92.02 (a)
SMC6 36
  • 91 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SMC6 35
  • 90.95 (n)
  • 93.3 (a)
SMC6 36
  • 93 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Smc6 35
  • 89.09 (n)
  • 90.81 (a)
Smc6 16
Smc6 36
  • 90 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia SMC6 35
  • 99.76 (n)
  • 99.91 (a)
SMC6 36
  • 98 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Smc6 35
  • 89.03 (n)
  • 91.18 (a)
oppossum
(Monodelphis domestica)
Mammalia -- 36
  • 68 (a)
OneToMany
-- 36
  • 43 (a)
OneToMany
-- 36
  • 53 (a)
OneToMany
-- 36
  • 48 (a)
OneToMany
-- 36
  • 53 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia SMC6 36
  • 66 (a)
OneToOne
chicken
(Gallus gallus)
Aves SMC6 35
  • 68.05 (n)
  • 60.11 (a)
SMC6 36
  • 59 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SMC6 36
  • 57 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100495634 35
  • 65.58 (n)
  • 63.71 (a)
African clawed frog
(Xenopus laevis)
Amphibia MGC68930 35
zebrafish
(Danio rerio)
Actinopterygii si:dkey-119f1.1 35
  • 56.74 (n)
  • 52.28 (a)
SMC6 36
  • 51 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP002985 35
  • 41.65 (n)
  • 29.98 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG5524 35
  • 42.99 (n)
  • 30.83 (a)
CG5524 36
  • 23 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea C23H4.6 36
  • 23 (a)
OneToMany
smc-6 36
  • 22 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes SMC6 36
  • 22 (a)
OneToOne
SMC6 38
thale cress
(Arabidopsis thaliana)
eudicotyledons MIM 35
  • 45.91 (n)
  • 30.32 (a)
rice
(Oryza sativa)
Liliopsida Os.22377 35
Os09g0121000 35
  • 48.93 (n)
  • 37.74 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 32 (a)
OneToOne
Species with no ortholog for SMC6:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • 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 SMC6 Gene

ENSEMBL:
Gene Tree for SMC6 (if available)
TreeFam:
Gene Tree for SMC6 (if available)

Paralogs for SMC6 Gene

No data available for Paralogs for SMC6 Gene

Variants for SMC6 Gene

Sequence variations from dbSNP and Humsavar for SMC6 Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type MAF
rs919106 -- 17,725,743(+) GCTAC(A/C)CAGAA intron-variant
rs919108 -- 17,729,281(+) CAGCT(C/G)TAGAC intron-variant
rs1054129 -- 17,746,821(+) ATCTA(A/C)TTTAA intron-variant, upstream-variant-2KB
rs1065381 - 17,703,228(-) TATCT(A/G)CCCTT missense, reference
rs1813455 -- 17,698,830(+) TTTTA(A/G)TGCAT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for SMC6 Gene

Variant ID Type Subtype PubMed ID
dgv685e199 CNV Deletion 23128226
dgv1157e1 CNV Complex 17122850
nsv522195 CNV Loss 19592680
esv2439754 CNV Deletion 19546169
esv2719749 CNV Deletion 23290073
dgv4062n71 CNV Gain 21882294

Variation tolerance for SMC6 Gene

Residual Variation Intolerance Score: 6.65% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 9.18; 87.92% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for SMC6 Gene

HapMap Linkage Disequilibrium report
SMC6

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SMC6 Gene

Disorders for SMC6 Gene

Relevant External Links for SMC6

Human Genome Epidemiology (HuGE) Navigator
SMC6
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SMC6
genes like me logo Genes that share disorders with SMC6: view

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for SMC6 Gene

Publications for SMC6 Gene

  1. Towards a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs. (PMID: 11230166) Wiemann S. … Poustka A. (Genome Res. 2001) 2 67
  2. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 67
  3. DNA repair. Proteomics reveals dynamic assembly of repair complexes during bypass of DNA cross-links. (PMID: 25931565) RAoschle M. … Mann M. (Science 2015) 67
  4. Temporal proteomics of NGF-TrkA signaling identifies an inhibitory role for the E3 ligase Cbl-b in neuroblastoma cell differentiation. (PMID: 25921289) Emdal K.B. … Olsen J.V. (Sci Signal 2015) 67
  5. Panorama of ancient metazoan macromolecular complexes. (PMID: 26344197) Wan C. … Emili A. (Nature 2015) 67

Products for SMC6 Gene

Sources for SMC6 Gene

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