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

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, Oct 2024]
Expression: Broad expression in CNS E11.5 (RPKM 31.0), liver E14 (RPKM 18.2) and 17 other tissues See more
Orthologs: human all
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Genomic context

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_000085.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

SMC3 contributes to heart development by regulating super-enhancer associated genes.
Title: SMC3 contributes to heart development by regulating super-enhancer associated genes.
Yin Yang 1 regulates cohesin complex protein SMC3 in mouse hematopoietic stem cells.
Title: Yin Yang 1 regulates cohesin complex protein SMC3 in mouse hematopoietic stem cells.
SMC3 epigenetic silencing regulates Rab27a expression and drives pancreatic cancer progression.
Title: SMC3 epigenetic silencing regulates Rab27a expression and drives pancreatic cancer progression.
Maternal Smc3 protects the integrity of the zygotic genome through DNA replication and mitosis.
Title: Maternal Smc3 protects the integrity of the zygotic genome through DNA replication and mitosis.
Cohesin Core Complex Gene Dosage Contributes to Germinal Center Derived Lymphoma Phenotypes and Outcomes.
Title: Cohesin Core Complex Gene Dosage Contributes to Germinal Center Derived Lymphoma Phenotypes and Outcomes.
Smc3 dosage regulates B cell transit through germinal centers and restricts their malignant transformation.
Title: Smc3 dosage regulates B cell transit through germinal centers and restricts their malignant transformation.
Tex19.1 inhibits the N-end rule pathway and maintains acetylated SMC3 cohesin and sister chromatid cohesion in oocytes.
Title: Tex19.1 inhibits the N-end rule pathway and maintains acetylated SMC3 cohesin and sister chromatid cohesion in oocytes.
antecedent mutations may be required to optimize the leukemogenic potential of Smc3 mutations.
Title: Smc3 is required for mouse embryonic and adult hematopoiesis.
A positively charged channel within the Smc1/Smc3 hinge required for sister chromatid cohesion.
Title: A positively charged channel within the Smc1/Smc3 hinge required for sister chromatid cohesion.

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Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (4)
Gene trapped (1)
Targeted (4) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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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

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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)

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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.