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

Gene ID: 24061, updated on 8-May-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 stem cell population maintenance. Located in nucleus. Part of meiotic cohesin complex. Is expressed in several structures, including alimentary system; genitourinary system; integumental system; nervous system; and sensory organ. Human ortholog(s) of this gene implicated in Cornelia de Lange syndrome 2 and developmental and epileptic encephalopathy. Orthologous to human SMC1A (structural maintenance of chromosomes 1A). [provided by Alliance of Genome Resources, Apr 2022]
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
  • 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 mediator complex binding IDA
Inferred from Direct Assay
more info
PubMed 
enables nucleotide binding IEA
Inferred from Electronic Annotation
more info
 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables protein heterodimerization activity ISO
Inferred from Sequence Orthology
more info
 
Process Evidence Code Pubs
acts_upstream_of_or_within DNA damage response IEA
Inferred from Electronic Annotation
more info
 
acts_upstream_of_or_within DNA repair IEA
Inferred from Electronic Annotation
more info
 
acts_upstream_of_or_within cell cycle IEA
Inferred from Electronic Annotation
more info
 
acts_upstream_of_or_within cell division IEA
Inferred from Electronic Annotation
more info
 
involved_in chromosome organization 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 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 sister chromatid cohesion IBA
Inferred from Biological aspect of Ancestor
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
located_in chromosome IEA
Inferred from Electronic Annotation
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 cytosol ISO
Inferred from Sequence Orthology
more info
 
located_in kinetochore ISO
Inferred from Sequence Orthology
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 mitotic cohesin complex ISO
Inferred from Sequence Orthology
more info
 
located_in mitotic spindle pole ISO
Inferred from Sequence Orthology
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 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)

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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