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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
  • Structural Maintenance Of Chromosomes Protein 6 3
  • SMC6L1, 6

External Ids for SMC6 Gene

Previous Symbols for SMC6 Gene

  • SMC6L1

Summaries for SMC6 Gene

GeneCards Summary for SMC6 Gene

SMC6 (Structural Maintenance Of Chromosomes 6) is a Protein Coding gene.

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

Genomic Location for SMC6 Gene

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

Regulatory Elements 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

No data available for DME Specific Peptides for SMC6 Gene

Domains for SMC6 Gene

Gene Families for SMC6 Gene

HGNC:
  • SMC :Structural maintenance of chromosomes proteins

Protein Domains for SMC6 Gene

UniProtKB/Swiss-Prot:

SMC6_HUMAN
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.:
    • Q96SB8
Family:
  • Belongs to the SMC family. SMC6 subfamily.:
    • Q96SB8
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 14701739
GO:0005524 ATP binding IEA --
genes like me logo Genes that share ontologies with SMC6: view

miRNA for SMC6 Gene

miRTarBase miRNAs that target SMC6

No data available for Enzyme Numbers (IUBMB) , Phenotypes , Animal Models , Transcription Factor Targeting 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
cytosol 2

Gene Ontology (GO) - Cellular Components for SMC6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000781 chromosome, telomeric region IDA 17589526
GO:0005622 intracellular IDA --
GO:0005634 nucleus IDA --
GO:0005654 nucleoplasm TAS --
GO:0005730 nucleolus IDA --
genes like me logo Genes that share ontologies with SMC6: view

Pathways for SMC6 Gene

SuperPathways for SMC6 Gene

No Data Available

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 IEA --
GO:0016925 protein sumoylation TAS --
GO:0043687 post-translational protein modification TAS --
GO:0044267 cellular protein metabolic process TAS --
genes like me logo Genes that share ontologies with SMC6: view

No data available for Pathways by source for SMC6 Gene

Transcripts for SMC6 Gene

Unigene Clusters for SMC6 Gene

Structural maintenance of chromosomes 6:
Representative Sequences:

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

Integrated Proteomics: protein expression 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 expressions with SMC6: view

Orthologs for SMC6 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for SMC6 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SMC6 36
  • 99.76 (n)
  • 99.91 (a)
SMC6 37
  • 98 (a)
OneToOne
cow
(Bos Taurus)
Mammalia SMC6 36
  • 90.55 (n)
  • 92.02 (a)
SMC6 37
  • 91 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SMC6 36
  • 90.95 (n)
  • 93.3 (a)
SMC6 37
  • 93 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Smc6 36
  • 89.09 (n)
  • 90.81 (a)
Smc6 16
Smc6 37
  • 90 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia -- 37
  • 68 (a)
OneToMany
-- 37
  • 43 (a)
OneToMany
-- 37
  • 53 (a)
OneToMany
-- 37
  • 48 (a)
OneToMany
-- 37
  • 53 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia SMC6 37
  • 66 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Smc6 36
  • 89.03 (n)
  • 91.18 (a)
chicken
(Gallus gallus)
Aves SMC6 36
  • 68.05 (n)
  • 60.11 (a)
SMC6 37
  • 59 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SMC6 37
  • 57 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia MGC68930 36
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100495634 36
  • 65.58 (n)
  • 63.71 (a)
zebrafish
(Danio rerio)
Actinopterygii si:dkey-119f1.1 36
  • 56.74 (n)
  • 52.28 (a)
SMC6 37
  • 51 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP002985 36
  • 41.65 (n)
  • 29.98 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG5524 36
  • 42.99 (n)
  • 30.83 (a)
CG5524 37
  • 23 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea C23H4.6 37
  • 23 (a)
OneToMany
smc-6 37
  • 22 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes SMC6 37
  • 22 (a)
OneToOne
SMC6 39
thale cress
(Arabidopsis thaliana)
eudicotyledons MIM 36
  • 45.91 (n)
  • 30.32 (a)
rice
(Oryza sativa)
Liliopsida Os.22377 36
Os09g0121000 36
  • 48.93 (n)
  • 37.74 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 37
  • 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
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

Relevant External Links for SMC6 Gene

HapMap Linkage Disequilibrium report
SMC6

Disorders for SMC6 Gene

Relevant External Links for SMC6

Human Genome Epidemiology (HuGE) Navigator
SMC6
genes like me logo Genes that share disorders with SMC6: view

No data available for UniProtKB/Swiss-Prot 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 3 4
  2. Characterization of a novel human SMC heterodimer homologous to the Schizosaccharomyces pombe Rad18/Spr18 complex. (PMID: 11408570) Taylor E.M. … Lehmann A.R. (Mol. Biol. Cell 2001) 3 4
  3. Coordination of DNA damage responses via the Smc5/Smc6 complex. (PMID: 14701739) Harvey S.H. … O'Connell M.J. (Mol. Cell. Biol. 2004) 3 4
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4

Products for SMC6 Gene

Sources for SMC6 Gene

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