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    SMC1A structural maintenance of chromosomes 1A [ Homo sapiens ]

    Gene ID: 8243, updated on 12-May-2012

    Summary

    Official Symbol
    SMC1Aprovided by HGNC
    Official Full Name
    structural maintenance of chromosomes 1Aprovided by HGNC
    Primary source
    HGNC:11111
    Locus tag
    RP6-29D12.1
    See related
    Ensembl:ENSG00000072501; HPRD:02077; MIM:300040; Vega:OTTHUMG00000021614
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    SMC1; SMCB; CDLS2; SB1.8; SMC1L1; DXS423E; SMC1alpha; KIAA0178; MGC138332; DKFZp686L19178
    Summary
    Proper cohesion of sister chromatids is a prerequisite for the correct segregation of chromosomes during cell division. The cohesin multiprotein complex is required for sister chromatid cohesion. This complex is composed partly of two structural maintenance of chromosomes (SMC) proteins, SMC3 and either SMC1L2 or the protein encoded by this gene. Most of the cohesin complexes dissociate from the chromosomes before mitosis, although those complexes at the kinetochore remain. Therefore, the encoded protein is thought to be an important part of functional kinetochores. In addition, this protein interacts with BRCA1 and is phosphorylated by ATM, indicating a potential role for this protein in DNA repair. This gene, which belongs to the SMC gene family, is located in an area of the X-chromosome that escapes X inactivation. [provided by RefSeq, Jul 2008]

    Genomic context

    Location :
    Xp11.22-p11.21
    Sequence :
    Chromosome: X; NC_000023.10 (53401070..53449618, complement)
    See SMC1A in Epigenomics, MapViewer

    Chromosome X - NC_000023.10Genomic Context describing neighboring genes Neighboring gene IQ motif and Sec7 domain 2 Neighboring gene ribosomal protein SA pseudogene 62 Neighboring gene hydroxysteroid (17-beta) dehydrogenase 10 Neighboring gene RIB43A domain with coiled-coils 1

    Genomic regions, transcripts, and products

    Bibliography

    GeneRIFs: Gene References Into Functions What's a GeneRIF?

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description
    Q14683 Q13315 ATM    HPRD  PubMed  
    Q14683 P54132 BLM    HPRD  PubMed  
    Q14683 P38398 BRCA1    HPRD  PubMed  
    Q14683 Q14566 MCM6    HPRD  PubMed  
    Q14683 P33993 MCM7    HPRD  PubMed  
    Q14683 Q14676 MDC1    HPRD  PubMed  
    Q14683 P08581 MET    HPRD  PubMed  
    Q14683 P43246 MSH2    HPRD  PubMed  
    Q14683 O14777 NDC80    HPRD  PubMed  
    Q14683 Q14980 NUMA1    HPRD  PubMed  
    Q14683 P09884 POLA1    HPRD  PubMed  
    Q14683 O60216 RAD21    HPRD  PubMed  
    Q14683 P35251 RFC1    HPRD  PubMed  
    Q14683 Q92834 RPGR    HPRD  PubMed  
    Q14683 Q9UQE7 SMC3    HPRD  PubMed  
    BioGRID:113871 BioGRID:106823 AIRE    BioGRID  PubMed Affinity Capture-MS; Affinity Capture-Western 
    BioGRID:113871 BioGRID:116748 ATG2A    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:113871 BioGRID:124372 ATG4C    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:113871 BioGRID:106962 ATM    BioGRID  PubMed Affinity Capture-Western; Biochemical Activity; Reconstituted Complex 
    BioGRID:113871 BioGRID:107027 ATR    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:113871 BioGRID:107028 ATRX    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:113871 BioGRID:107056 BARD1    BioGRID  PubMed Co-purification 
    BioGRID:113871 BioGRID:114226 BECN1    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:113871 BioGRID:107140 BRCA1    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:113871 BioGRID:115889 CAMKK2    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:113871 BioGRID:107287 CASP4    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:113871 BioGRID:107454 CDK4    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:113871 BioGRID:121991 CHTF18    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:113871 BioGRID:115906 CTCF    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:113871 BioGRID:212479 Cdca5    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:113871 BioGRID:116123 EHMT2    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:113871 BioGRID:115331 HDAC5    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:113871 BioGRID:128743 KDM1B    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:113871 BioGRID:110411 MGMT    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:113871 BioGRID:110438 MLH1    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:113871 BioGRID:109211 MSH6    BioGRID  PubMed Reconstituted Complex 
    BioGRID:113871 BioGRID:110980 NUMA1    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:113871 BioGRID:116625 PAXIP1    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:113871 BioGRID:116848 PDS5A    BioGRID  PubMed Affinity Capture-MS; Affinity Capture-Western 
    BioGRID:113871 BioGRID:116685 PDS5B    BioGRID  PubMed Affinity Capture-MS; Affinity Capture-Western 
    BioGRID:113871 BioGRID:111271 PHF1    BioGRID  PubMed Affinity Capture-MS; Affinity Capture-Western 
    BioGRID:113871 BioGRID:111550 PRKAA2    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:113871 BioGRID:111822 RAD21    BioGRID  PubMed Affinity Capture-MS; Affinity Capture-Western; Co-localization; Two-hybrid 
    BioGRID:113871 BioGRID:114054 RAE1    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:113871 BioGRID:115306 REC8    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:113871 BioGRID:112030 RPGR    BioGRID  PubMed Affinity Capture-Western; Reconstituted Complex 
    BioGRID:113871 BioGRID:202560 Rad21    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:113871 BioGRID:114045 SMARCA5    BioGRID  PubMed Co-purification 
    BioGRID:113871 BioGRID:121244 SMARCAD1    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:113871 BioGRID:113871 SMC1A    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:113871 BioGRID:114574 SMC3    BioGRID  PubMed Affinity Capture-MS; Affinity Capture-Western 
    BioGRID:113871 BioGRID:115544 SRRM1    BioGRID  PubMed Affinity Capture-MS; Affinity Capture-Western; Co-fractionation 
    BioGRID:113871 BioGRID:118869 SSU72    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:113871 BioGRID:115564 STAG1    BioGRID  PubMed Affinity Capture-MS; Affinity Capture-Western; Co-purification; Reconstituted Complex 
    BioGRID:113871 BioGRID:115958 STAG2    BioGRID  PubMed Affinity Capture-MS; Affinity Capture-Western 
    BioGRID:113871 BioGRID:115957 STAG3    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:113871 BioGRID:119663 STYXL1    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:113871 BioGRID:113188 SUMO1    BioGRID  PubMed Reconstituted Complex 
    BioGRID:113871 BioGRID:119081 SYCP3    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:113871 BioGRID:203518 Stag2    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:113871 BioGRID:112923 THRA    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:113871 BioGRID:112924 THRB    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:113871 BioGRID:113164 UBC    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:113871 BioGRID:114465 USP13    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:113871 BioGRID:124189 USP32    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:113871 BioGRID:116698 WAPAL    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:113871 BioGRID:127236 WFDC5    BioGRID  PubMed Affinity Capture-MS; Affinity Capture-Western 

    General gene information

    Markers

    Homology

    • Homologs of the SMC1A gene: The SMC1A gene is conserved in , dog, cow, mouse, rat, chicken, zebrafish, fruit fly, mosquito, C.elegans, S.cerevisiae, K.lactis, , S.pombe, , N.crassa, A.thaliana, and rice.
    • Map Viewer (Mouse, Rat)

    Pathways from BioSystems

    • Cell Cycle, organism-specific biosystem (from REACTOME)
      Cell Cycle, organism-specific biosystem
      Cell Cycle
    • Cell Cycle, Mitotic, organism-specific biosystem (from REACTOME)
      Cell Cycle, Mitotic, organism-specific biosystemThe replication of the genome and the subsequent segregation of chromosomes into daughter cells are controlled by a series of events collectively known as the cell cycle. DNA replication is carried o...
    • Cell cycle, organism-specific biosystem (from WikiPathways)
      Cell cycle, organism-specific biosystem(From http://en.wikipedia.org/wiki/Cell_cycle) The cell cycle is the series of events that takes place in a cell leading to its division and duplication (replication). Regulation of the cell cycle in...
    • Cell cycle, organism-specific biosystem (from KEGG)
      Cell cycle, organism-specific biosystemMitotic cell cycle progression is accomplished through a reproducible sequence of events, DNA replication (S phase) and mitosis (M phase) separated temporally by gaps known as G1 and G2 phases. Cycli...
    • Cell cycle, conserved biosystem (from KEGG)
      Cell cycle, conserved biosystemMitotic cell cycle progression is accomplished through a reproducible sequence of events, DNA replication (S phase) and mitosis (M phase) separated temporally by gaps known as G1 and G2 phases. Cycli...
    • Chromosome Maintenance, organism-specific biosystem (from REACTOME)
      Chromosome Maintenance, organism-specific biosystemChromosome maintenance is critical for stable chromosome function in mammalian and other eukaryotic cells. Aspects of telomere maintenance and nucleosome assembly are covered here.
    • DNA Replication, organism-specific biosystem (from REACTOME)
      DNA Replication, organism-specific biosystemStudies in the past decade have suggested that the basic mechanism of DNA replication initiation is conserved in all kingdoms of life. Initiation in unicellular eukaryotes, in particular Saccharomyce...
    • Gene Expression, organism-specific biosystem (from REACTOME)
      Gene Expression, organism-specific biosystemGene Expression covers the pathways by which genomic DNA is transcribed to yield RNA, the regulation of these transcription processes, and the pathways by which newly-made RNA Transcripts are process...
    • M Phase, organism-specific biosystem (from REACTOME)
      M Phase, organism-specific biosystemMitosis, or the M phase, involves nuclear division and cytokinesis, where two identical daughter cells are produced. Mitosis involves prophase, prometaphase, metaphase, anaphase, and telophase. Fin...
    • Meiosis, organism-specific biosystem (from REACTOME)
      Meiosis, organism-specific biosystemDuring meiosis the replicated chromosomes of a single diploid cell are segregated into 4 haploid daughter cells by two successive divisions, meiosis I and meiosis II. In meiosis I, the distinguishing...
    • Meiotic Synapsis, organism-specific biosystem (from REACTOME)
      Meiotic Synapsis, organism-specific biosystemMeiotic synapsis is the stable physical pairing of homologous chromosomes that begins in leptonema of prophase I and lasts until anaphase of prophase I. First, short segments of axial elements form a...
    • Mitotic M-M/G1 phases, organism-specific biosystem (from REACTOME)
      Mitotic M-M/G1 phases, organism-specific biosystem
      Mitotic M-M/G1 phases
    • Mitotic Metaphase/Anaphase Transition, organism-specific biosystem (from REACTOME)
      Mitotic Metaphase/Anaphase Transition, organism-specific biosystemThe metaphase to anaphase transition during mitosis is triggered by the destruction of mitotic cyclins.
    • Mitotic Prometaphase, organism-specific biosystem (from REACTOME)
      Mitotic Prometaphase, organism-specific biosystemThe dissolution of the nuclear membrane marks the beginning of the prometaphase. Kinetochores are created when proteins attach to the centromeres. Microtubules then attach at the kinetochores, and ...
    • Oocyte meiosis, organism-specific biosystem (from KEGG)
      Oocyte meiosis, organism-specific biosystemDuring meiosis, a single round of DNA replication is followed by two rounds of chromosome segregation, called meiosis I and meiosis II. At meiosis I, homologous chromosomes recombine and then segrega...
    • Oocyte meiosis, conserved biosystem (from KEGG)
      Oocyte meiosis, conserved biosystemDuring meiosis, a single round of DNA replication is followed by two rounds of chromosome segregation, called meiosis I and meiosis II. At meiosis I, homologous chromosomes recombine and then segrega...
    • Processing of Capped Intron-Containing Pre-mRNA, organism-specific biosystem (from REACTOME)
      Processing of Capped Intron-Containing Pre-mRNA, organism-specific biosystemCo-transcriptional pre-mRNA splicing is not obligatory. Pre-mRNA splicing begins co-transcriptionally and often continues post-transcriptionally. Human genes contain an average of nine introns per ge...
    • mRNA Splicing, organism-specific biosystem (from REACTOME)
      mRNA Splicing, organism-specific biosystemThe process in which excision of introns from the primary transcript of messenger RNA (mRNA) is followed by ligation of the two exon termini exposed by removal of each intron, is called mRNA splicing...
    • mRNA Splicing - Major Pathway, organism-specific biosystem (from REACTOME)
      mRNA Splicing - Major Pathway, organism-specific biosystemThe splicing of pre-mRNA occurs within a large, very dynamic complex, designated the 'spliceosome'. The 50-60S spliceosomes are estimated to be 40-60 nm in diameter, and have molecular weights in the...
    • mRNA processing, organism-specific biosystem (from WikiPathways)
      mRNA processing, organism-specific biosystemThis process describes the conversion of precursor messenger RNA into mature messenger RNA (mRNA). The pre-mRNA molecule undergoes three main modifications. These modifications are 5' capping, 3' po...

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    ATP binding IEA
    Inferred from Electronic Annotation
    more info
     
    chromatin binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    microtubule motor activity NAS
    Non-traceable Author Statement
    more info
    PubMed 
    nucleotide binding IEA
    Inferred from Electronic Annotation
    more info
     
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protein heterodimerization activity IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    DNA recombination IEA
    Inferred from Electronic Annotation
    more info
     
    DNA repair TAS
    Traceable Author Statement
    more info
    PubMed 
    M phase of mitotic cell cycle TAS
    Traceable Author Statement
    more info
     
    RNA splicing TAS
    Traceable Author Statement
    more info
     
    cell cycle checkpoint IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cell division IEA
    Inferred from Electronic Annotation
    more info
     
    chromosome condensation IEA
    Inferred from Electronic Annotation
    more info
     
    gene expression TAS
    Traceable Author Statement
    more info
     
    meiosis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    mitotic cell cycle TAS
    Traceable Author Statement
    more info
     
    mitotic metaphase/anaphase transition TAS
    Traceable Author Statement
    more info
     
    mitotic prometaphase TAS
    Traceable Author Statement
    more info
     
    mitotic sister chromatid cohesion TAS
    Traceable Author Statement
    more info
    PubMed 
    mitotic sister chromatid segregation TAS
    Traceable Author Statement
    more info
    PubMed 
    mitotic spindle organization TAS
    Traceable Author Statement
    more info
    PubMed 
    negative regulation of DNA endoreduplication IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    nuclear mRNA splicing, via spliceosome TAS
    Traceable Author Statement
    more info
     
    response to radiation IEP
    Inferred from Expression Pattern
    more info
    PubMed 
    signal transduction in response to DNA damage IDA
    Inferred from Direct Assay
    more info
    PubMed 
    sister chromatid cohesion IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    chromosome IEA
    Inferred from Electronic Annotation
    more info
     
    cohesin core heterodimer TAS
    Traceable Author Statement
    more info
    PubMed 
    condensed chromosome kinetochore IEA
    Inferred from Electronic Annotation
    more info
     
    condensed nuclear chromosome TAS
    Traceable Author Statement
    more info
    PubMed 
    cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    kinetochore IDA
    Inferred from Direct Assay
    more info
    PubMed 
    meiotic cohesin complex IDA
    Inferred from Direct Assay
    more info
     
    NOT nucleolus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    nucleoplasm TAS
    Traceable Author Statement
    more info
     
    nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    structural maintenance of chromosomes protein 1A
    Names
    structural maintenance of chromosomes protein 1A
    SMC-1A
    SMC-1-alpha
    SMC protein 1A
    segregation of mitotic chromosomes 1
    SMC1 structural maintenance of chromosomes 1-like 1
    SMC1 (structural maintenance of chromosomes 1, yeast)-like 1

    NCBI Reference Sequences (RefSeq)

    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.

    Genomic

    1. NG_006988.1 RefSeqGene

      Range
      5001..53549
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_006306.2NP_006297.2  structural maintenance of chromosomes protein 1A

      Status: REVIEWED

      Source sequence(s)
      AK056308, AK091458, BQ232418, D80000
      Consensus CDS
      CCDS14352.1
      UniProtKB/Swiss-Prot
      Q14683
      Related
      ENSP00000323421, OTTHUMP00000023351, ENST00000322213, OTTHUMT00000056756
      Conserved Domains (3) summary
      cd03275
      Location:4148
      Blast Score: 634
      ABC_SMC1_euk; Eukaryotic SMC1 proteins; SMC proteins are large (approximately 110 to 170 kDa), and each is arranged into five recognizable domains. Amino-acid sequence homology of SMC proteins between species is largely confined to the amino- and carboxy-terminal ...
      pfam02463
      Location:31210
      Blast Score: 1288
      SMC_N; RecF/RecN/SMC N terminal domain
      cl05797
      Location:513628
      Blast Score: 305
      SMC_hinge; SMC proteins Flexible Hinge Domain

    RefSeqs of Annotated Genomes: Build 37.3

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

    Reference GRCh37.p5 Primary Assembly

    Genomic

    1. NC_000023.10 Reference GRCh37.p5 Primary Assembly

      Range
      53401070..53449618, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate HuRef

    Genomic

    1. AC_000155.1 Alternate HuRef

      Range
      50459360..50507246, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

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