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    SMC6 structural maintenance of chromosomes 6 [ Homo sapiens (human) ]

    Gene ID: 79677, updated on 8-Apr-2018
    Official Symbol
    SMC6provided by HGNC
    Official Full Name
    structural maintenance of chromosomes 6provided by HGNC
    Primary source
    HGNC:HGNC:20466
    See related
    Ensembl:ENSG00000163029 MIM:609387; Vega:OTTHUMG00000090675
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    SMC-6; hSMC6; SMC6L1
    Expression
    Broad expression in testis (RPKM 13.9), lymph node (RPKM 7.0) and 24 other tissues See more
    Orthologs
    Location:
    2p24.2
    Exon count:
    30
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) 2 NC_000002.12 (17663812..17753833, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (17845079..17935096, complement)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene nascent polypeptide-associated complex alpha subunit pseudogene Neighboring gene RAD51 associated protein 2 Neighboring gene visinin like 1 Neighboring gene uncharacterized LOC105373449 Neighboring gene GEN1, Holliday junction 5' flap endonuclease Neighboring gene mesogenin 1

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    • Metabolism of proteins, organism-specific biosystem (from REACTOME)
      Metabolism of proteins, organism-specific biosystemProtein metabolism comprises the pathways of translation, post-translational modification and protein folding.
    • Post-translational protein modification, organism-specific biosystem (from REACTOME)
      Post-translational protein modification, organism-specific biosystemAfter translation, many newly formed proteins undergo further covalent modifications that alter their functional properties and that are essentially irreversible under physiological conditions in the...
    • SUMO E3 ligases SUMOylate target proteins, organism-specific biosystem (from REACTOME)
      SUMO E3 ligases SUMOylate target proteins, organism-specific biosystemSUMO proteins are conjugated to lysine residues of target proteins via an isopeptide bond with the C-terminal glycine of SUMO (reviewed in Zhao 2007, Gareau and Lima 2010, Hannoun et al. 2010, Citro ...
    • SUMOylation, organism-specific biosystem (from REACTOME)
      SUMOylation, organism-specific biosystemSmall Ubiquitin-like MOdifiers (SUMOs) are a family of 3 proteins (SUMO1,2,3) that are reversibly conjugated to lysine residues of target proteins via a glycine-lysine isopeptide bond (reviewed in Ha...
    • SUMOylation of DNA damage response and repair proteins, organism-specific biosystem (from REACTOME)
      SUMOylation of DNA damage response and repair proteins, organism-specific biosystemSeveral factors that participate in DNA damage response and repair are SUMOylated (reviewed in Dou et al. 2011, Bekker-Jensen and Mailand 2011, Ulrich 2012, Psakhye and Jentsch 2012, Bologna and Ferr...
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • FLJ22116, FLJ35534

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    ATP binding IEA
    Inferred from Electronic Annotation
    more info
     
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    ubiquitin protein ligase binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    cellular response to DNA damage stimulus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cellular senescence IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    double-strand break repair via homologous recombination IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of chromosome segregation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    telomere maintenance via recombination IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    PML body IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Smc5-Smc6 complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    chromosome, telomeric region IDA
    Inferred from Direct Assay
    more info
    PubMed 
    interchromatin granule IDA
    Inferred from Direct Assay
    more info
    PubMed 
    intracellular IDA
    Inferred from Direct Assay
    more info
     
    nuclear speck IEA
    Inferred from Electronic Annotation
    more info
     
    nucleoplasm IDA
    Inferred from Direct Assay
    more info
     
    nucleoplasm TAS
    Traceable Author Statement
    more info
     
    nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    sex chromosome ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    site of double-strand break IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Preferred Names
    structural maintenance of chromosomes protein 6
    Names
    SMC protein 6
    SMC6 structural maintenance of chromosomes 6-like 1

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001142286.1NP_001135758.1  structural maintenance of chromosomes protein 6

      See identical proteins and their annotated locations for NP_001135758.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript. Both variants 1 and 2 encode the same protein.
      Source sequence(s)
      AL136544, AL832979, BC039828, CD369665, DB451629
      Consensus CDS
      CCDS1690.1
      UniProtKB/Swiss-Prot
      Q96SB8
      Related
      ENSP00000404092.2, OTTHUMP00000115843, ENST00000448223.6, OTTHUMT00000207359
      Conserved Domains (5) summary
      cd03276
      Location:9771075
      ABC_SMC6_euk; ATP-binding cassette domain of eukaryotic SM6 proteins
      COG1196
      Location:481069
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
      pfam08702
      Location:662742
      Fib_alpha; Fibrinogen alpha/beta chain family
      pfam17023
      Location:701835
      DUF5098; Domain of unknown function (DUF5098)
      cl21455
      Location:9241025
      P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases
    2. NM_024624.5NP_078900.1  structural maintenance of chromosomes protein 6

      See identical proteins and their annotated locations for NP_078900.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks an alternate exon in the 5' UTR, compared to variant 1. Both variants 1 and 2 encode the same protein.
      Source sequence(s)
      AL832979, BC039828, CD369665, DB451629
      Consensus CDS
      CCDS1690.1
      UniProtKB/Swiss-Prot
      Q96SB8
      Related
      ENSP00000323439.4, OTTHUMP00000115842, ENST00000351948.8, OTTHUMT00000207358
      Conserved Domains (5) summary
      cd03276
      Location:9771075
      ABC_SMC6_euk; ATP-binding cassette domain of eukaryotic SM6 proteins
      COG1196
      Location:481069
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
      pfam08702
      Location:662742
      Fib_alpha; Fibrinogen alpha/beta chain family
      pfam17023
      Location:701835
      DUF5098; Domain of unknown function (DUF5098)
      cl21455
      Location:9241025
      P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p12 Primary Assembly

    Genomic

    1. NC_000002.12 Reference GRCh38.p12 Primary Assembly

      Range
      17663812..17753833 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017004916.2XP_016860405.1  structural maintenance of chromosomes protein 6 isoform X4

    2. XM_011533108.3XP_011531410.1  structural maintenance of chromosomes protein 6 isoform X3

      Conserved Domains (4) summary
      cd03276
      Location:9691067
      ABC_SMC6_euk; ATP-binding cassette domain of eukaryotic SM6 proteins
      COG1196
      Location:481061
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
      pfam08702
      Location:635715
      Fib_alpha; Fibrinogen alpha/beta chain family
      pfam17023
      Location:674808
      DUF5098; Domain of unknown function (DUF5098)
    3. XM_017004913.2XP_016860402.1  structural maintenance of chromosomes protein 6 isoform X1

      Conserved Domains (4) summary
      cd03276
      Location:9961094
      ABC_SMC6_euk; ATP-binding cassette domain of eukaryotic SM6 proteins
      COG1196
      Location:481088
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
      pfam08702
      Location:662742
      Fib_alpha; Fibrinogen alpha/beta chain family
      pfam17023
      Location:701835
      DUF5098; Domain of unknown function (DUF5098)
    4. XM_017004914.1XP_016860403.1  structural maintenance of chromosomes protein 6 isoform X1

      Conserved Domains (4) summary
      cd03276
      Location:9961094
      ABC_SMC6_euk; ATP-binding cassette domain of eukaryotic SM6 proteins
      COG1196
      Location:481088
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
      pfam08702
      Location:662742
      Fib_alpha; Fibrinogen alpha/beta chain family
      pfam17023
      Location:701835
      DUF5098; Domain of unknown function (DUF5098)
    5. XM_017004915.2XP_016860404.1  structural maintenance of chromosomes protein 6 isoform X2

      UniProtKB/Swiss-Prot
      Q96SB8
      Related
      ENSP00000384539.1, ENST00000402989.5
      Conserved Domains (5) summary
      cd03276
      Location:9771075
      ABC_SMC6_euk; ATP-binding cassette domain of eukaryotic SM6 proteins
      COG1196
      Location:481069
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
      pfam08702
      Location:662742
      Fib_alpha; Fibrinogen alpha/beta chain family
      pfam17023
      Location:701835
      DUF5098; Domain of unknown function (DUF5098)
      cl21455
      Location:9241025
      P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases
    6. XM_011533107.3XP_011531409.1  structural maintenance of chromosomes protein 6 isoform X1

      Conserved Domains (4) summary
      cd03276
      Location:9961094
      ABC_SMC6_euk; ATP-binding cassette domain of eukaryotic SM6 proteins
      COG1196
      Location:481088
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
      pfam08702
      Location:662742
      Fib_alpha; Fibrinogen alpha/beta chain family
      pfam17023
      Location:701835
      DUF5098; Domain of unknown function (DUF5098)

    RNA

    1. XR_939716.3 RNA Sequence

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