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    Smc3 structural maintenance of chromosomes 3 [ Mus musculus (house mouse) ]

    Gene ID: 13006, updated on 9-Dec-2024

    Summary

    Official Symbol
    Smc3provided by MGI
    Official Full Name
    structural maintenance of chromosomes 3provided by MGI
    Primary source
    MGI:MGI:1339795
    See related
    Ensembl:ENSMUSG00000024974 AllianceGenome:MGI:1339795
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    HCAP; SmcD; Cspg6; Mmip1; SMC-3; Bamacan
    Summary
    Enables chromatin binding activity; cis-regulatory region sequence-specific DNA binding activity; and mediator complex binding activity. Acts upstream of or within meiotic cell cycle and stem cell population maintenance. Located in lateral element. Part of meiotic cohesin complex. Is expressed in several structures, including alimentary system; brain; genitourinary system; integumental system; and respiratory system. Used to study Cornelia de Lange syndrome 3. Human ortholog(s) of this gene implicated in Cornelia de Lange syndrome 3; hepatocellular carcinoma; and intellectual disability. Orthologous to human SMC3 (structural maintenance of chromosomes 3). [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Broad expression in CNS E11.5 (RPKM 31.0), liver E14 (RPKM 18.2) and 17 other tissues See more
    Orthologs
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    Genomic context

    See Smc3 in Genome Data Viewer
    Location:
    19 D2; 19 48.13 cM
    Exon count:
    29
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 19 NC_000085.7 (53588827..53634262)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 19 NC_000085.6 (53600396..53645831)

    Chromosome 19 - NC_000085.7Genomic Context describing neighboring genes Neighboring gene predicted gene, 54049 Neighboring gene STARR-seq mESC enhancer starr_46462 Neighboring gene STARR-positive B cell enhancer ABC_E621 Neighboring gene nuclear transport factor 2, pseudogene 1 Neighboring gene STARR-seq mESC enhancer starr_46463 Neighboring gene RNA binding motif protein 20 Neighboring gene predicted gene, 46653 Neighboring gene STARR-seq mESC enhancer starr_46464 Neighboring gene VISTA enhancer mm64 Neighboring gene predicted gene, 30943

    Genomic regions, transcripts, and products

    Expression

    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Variation

    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (4) 
    • Gene trapped (1) 
    • Targeted (4)  1 citation

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables ATP binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables ATP hydrolysis activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables beta-tubulin binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables beta-tubulin binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables chromatin binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables cis-regulatory region sequence-specific DNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables double-stranded DNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables dynein complex binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables dynein complex binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables mediator complex binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein heterodimerization activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables protein heterodimerization activity ISO
    Inferred from Sequence Orthology
    more info
     
    Process Evidence Code Pubs
    involved_in DNA repair IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cell division IEA
    Inferred from Electronic Annotation
    more info
     
    acts_upstream_of_or_within meiotic cell cycle IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    involved_in meiotic cell cycle ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in meiotic cell cycle ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in mitotic sister chromatid cohesion IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in mitotic spindle assembly IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in mitotic spindle assembly ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in regulation of DNA replication ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in regulation of DNA replication ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in sister chromatid cohesion IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in sister chromatid cohesion ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within stem cell population maintenance IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in basement membrane ISO
    Inferred from Sequence Orthology
    more info
     
    located_in chromatin ISO
    Inferred from Sequence Orthology
    more info
     
    located_in chromatin ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in chromosome, centromeric region IEA
    Inferred from Electronic Annotation
    more info
     
    part_of cohesin complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    part_of cohesin complex ISO
    Inferred from Sequence Orthology
    more info
     
    located_in lateral element IDA
    Inferred from Direct Assay
    more info
    PubMed 
    part_of meiotic cohesin complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    part_of meiotic cohesin complex ISO
    Inferred from Sequence Orthology
    more info
     
    part_of meiotic cohesin complex ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    part_of mitotic cohesin complex IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    part_of mitotic cohesin complex IEA
    Inferred from Electronic Annotation
    more info
     
    part_of mitotic cohesin complex ISO
    Inferred from Sequence Orthology
    more info
     
    located_in mitotic spindle pole ISO
    Inferred from Sequence Orthology
    more info
     
    located_in mitotic spindle pole ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in nuclear matrix ISO
    Inferred from Sequence Orthology
    more info
     
    located_in nuclear matrix ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in nucleoplasm ISO
    Inferred from Sequence Orthology
    more info
     
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
     
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in synaptonemal complex ISO
    Inferred from Sequence Orthology
    more info
     

    General protein information

    Preferred Names
    structural maintenance of chromosomes protein 3
    Names
    SMC protein 3
    basement membrane-associated chondroitin proteoglycan
    chondroitin sulfate proteoglycan 6
    chromosome segregation protein SmcD
    mad member-interacting protein 1
    structural maintenace of chromosomes 3

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_007790.3NP_031816.2  structural maintenance of chromosomes protein 3

      See identical proteins and their annotated locations for NP_031816.2

      Status: VALIDATED

      Source sequence(s)
      AF047601, AK005647, AK165878
      Consensus CDS
      CCDS38025.1
      UniProtKB/Swiss-Prot
      O35667, Q9CW03, Q9QUS3
      UniProtKB/TrEMBL
      Q1HL32, Q6P5E5
      Related
      ENSMUSP00000025930.10, ENSMUST00000025930.10
      Conserved Domains (1) summary
      COG1196
      Location:11194
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000085.7 Reference GRCm39 C57BL/6J

      Range
      53588827..53634262
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)