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    Smc1a structural maintenance of chromosomes 1A [ Mus musculus (house mouse) ]

    Gene ID: 24061, updated on 2-Nov-2024

    Summary

    Official Symbol
    Smc1aprovided by MGI
    Official Full Name
    structural maintenance of chromosomes 1Aprovided by MGI
    Primary source
    MGI:MGI:1344345
    See related
    Ensembl:ENSMUSG00000041133 AllianceGenome:MGI:1344345
    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
    Smc1; Smcb; Sb1.8; SMC-1A; Smc1l1; Smc1alpha; mKIAA0178; 5830426I24Rik
    Summary
    Enables chromatin binding activity and mediator complex binding activity. Acts upstream of or within meiotic cell cycle and somatic stem cell population maintenance. Located in nucleus. Part of meiotic cohesin complex. Is expressed in several structures, including alimentary system; brain; genitourinary system; integumental system; and sensory organ. Human ortholog(s) of this gene implicated in Cornelia de Lange syndrome 2; congestive heart failure; and developmental and epileptic encephalopathy 85. Orthologous to human SMC1A (structural maintenance of chromosomes 1A). [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in CNS E11.5 (RPKM 47.7), liver E14 (RPKM 30.8) and 27 other tissues See more
    Orthologs
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    Genomic context

    See Smc1a in Genome Data Viewer
    Location:
    X F3; X 68.46 cM
    Exon count:
    26
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) X NC_000086.8 (150799386..150844969)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) X NC_000086.7 (152016428..152061973)

    Chromosome X - NC_000086.8Genomic Context describing neighboring genes Neighboring gene hydroxysteroid (17-beta) dehydrogenase 10 Neighboring gene predicted gene, 39540 Neighboring gene RIB43A domain with coiled-coils 1 Neighboring gene STARR-seq mESC enhancer starr_48089 Neighboring gene predicted gene 15267 Neighboring gene STARR-positive B cell enhancer ABC_E11059 Neighboring gene predicted gene 15266 Neighboring gene IQ motif and Sec7 domain 2 Neighboring gene predicted gene, 52480

    Genomic regions, transcripts, and products

    Expression

    • Project title: Mouse ENCODE transcriptome data 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 (2) 
    • Targeted (1)  1 citation

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • KIAA0178

    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 DNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables chromatin binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables chromatin binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables chromatin 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 spindle assembly IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in mitotic spindle assembly ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in response to DNA damage checkpoint signaling ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in response to DNA damage checkpoint signaling ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in response to radiation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in sister chromatid cohesion IBA
    Inferred from Biological aspect of Ancestor
    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 somatic stem cell population maintenance IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    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 cytosol IEA
    Inferred from Electronic Annotation
    more info
     
    located_in cytosol ISO
    Inferred from Sequence Orthology
    more info
     
    located_in kinetochore ISO
    Inferred from Sequence Orthology
    more info
     
    located_in kinetochore ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in lateral element ISO
    Inferred from Sequence Orthology
    more info
     
    part_of meiotic cohesin complex IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    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 IEA
    Inferred from Electronic Annotation
    more info
     
    part_of mitotic cohesin complex ISO
    Inferred from Sequence Orthology
    more info
     
    located_in mitotic spindle pole IEA
    Inferred from Electronic Annotation
    more info
     
    located_in mitotic spindle pole ISO
    Inferred from Sequence Orthology
    more info
     
    located_in nuclear matrix IEA
    Inferred from Electronic Annotation
    more info
     
    located_in nuclear matrix ISO
    Inferred from Sequence Orthology
    more info
     
    located_in nucleoplasm ISO
    Inferred from Sequence Orthology
    more info
     
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
     
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in nucleus ISO
    Inferred from Sequence Orthology
    more info
     
    located_in nucleus ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in synaptonemal complex ISO
    Inferred from Sequence Orthology
    more info
     

    General protein information

    Preferred Names
    structural maintenance of chromosomes protein 1A
    Names
    SMC (segregation of mitotic chromosomes 1)-like 1
    SMC protein 1A
    SMC-1-alpha
    chromosome segregation protein SmcB
    segregation of mitotic chromosomes b

    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_019710.2NP_062684.2  structural maintenance of chromosomes protein 1A

      See identical proteins and their annotated locations for NP_062684.2

      Status: VALIDATED

      Source sequence(s)
      AL672180, AW045560, BC131667
      Consensus CDS
      CCDS30473.1
      UniProtKB/Swiss-Prot
      A2AFQ5, Q3V480, Q9CU62, Q9CUX9, Q9D959, Q9WTU1
      Related
      ENSMUSP00000044645.6, ENSMUST00000045312.6
      Conserved Domains (1) summary
      pfam02463
      Location:31210
      SMC_N; RecF/RecN/SMC N terminal domain

    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_000086.8 Reference GRCm39 C57BL/6J

      Range
      150799386..150844969
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_036161950.1XP_036017843.1  structural maintenance of chromosomes protein 1A isoform X2

      Conserved Domains (1) summary
      pfam02463
      Location:31000
      SMC_N; RecF/RecN/SMC N terminal domain
    2. XM_036161951.1XP_036017844.1  structural maintenance of chromosomes protein 1A isoform X3

      Conserved Domains (1) summary
      pfam02463
      Location:3854
      SMC_N; RecF/RecN/SMC N terminal domain
    3. XM_006528840.4XP_006528903.1  structural maintenance of chromosomes protein 1A isoform X1

      Conserved Domains (1) summary
      pfam02463
      Location:41076
      SMC_N; RecF/RecN/SMC N terminal domain