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Aliases for SMC3 Gene

Aliases for SMC3 Gene

  • Structural Maintenance Of Chromosomes 3 2 3
  • CSPG6 3 4 6
  • HCAP 3 4 6
  • BAM 3 4 6
  • Basement Membrane-Associated Chondroitin Proteoglycan 3 4
  • Chondroitin Sulfate Proteoglycan 6 (Bamacan) 2 3
  • Chromosome-Associated Polypeptide 3 4
  • SMC Protein 3 3 4
  • SMC3L1 3 4
  • CDLS3 3 6
  • BMH 3 4
  • Structural Maintenance Of Chromosomes Protein 3 3
  • Chondroitin Sulfate Proteoglycan 6 4
  • Bamacan Proteoglycan 2
  • Bamacan 4
  • SMC-3 4

External Ids for SMC3 Gene

Previous Symbols for SMC3 Gene

  • CSPG6

Summaries for SMC3 Gene

Entrez Gene Summary for SMC3 Gene

  • This gene belongs to the SMC3 subfamily of SMC proteins. The encoded protein occurs in certain cell types as either an intracellular, nuclear protein or a secreted protein. The nuclear form, known as structural maintenance of chromosomes 3, is a component of the multimeric cohesin complex that holds together sister chromatids during mitosis, enabling proper chromosome segregation. Post-translational modification of the encoded protein by the addition of chondroitin sulfate chains gives rise to the secreted proteoglycan bamacan, an abundant basement membrane protein. [provided by RefSeq, Jul 2008]

GeneCards Summary for SMC3 Gene

SMC3 (Structural Maintenance Of Chromosomes 3) is a Protein Coding gene. Diseases associated with SMC3 include cornelia de lange syndrome 3 and smc3-related cornelia de lange syndrome. Among its related pathways are ERK Signaling and ERK Signaling. GO annotations related to this gene include protein heterodimerization activity and microtubule motor activity.

UniProtKB/Swiss-Prot for SMC3 Gene

  • Central component of cohesin, a complex required for chromosome cohesion during the cell cycle. The cohesin complex may form a large proteinaceous ring within which sister chromatids can be trapped. At anaphase, the complex is cleaved and dissociates from chromatin, allowing sister chromatids to segregate. Cohesion is coupled to DNA replication and is involved in DNA repair. The cohesin complex plays also an important role in spindle pole assembly during mitosis and in chromosomes movement.

Gene Wiki entry for SMC3 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SMC3 Gene

Genomics for SMC3 Gene

Genomic Location for SMC3 Gene

Start:
110,567,691 bp from pter
End:
110,604,636 bp from pter
Size:
36,946 bases
Orientation:
Plus strand

Genomic View for SMC3 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for SMC3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SMC3 Gene

Regulatory Elements for SMC3 Gene

Transcription factor binding sites by QIAGEN in the SMC3 gene promoter:

Proteins for SMC3 Gene

  • Protein details for SMC3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9UQE7-SMC3_HUMAN
    Recommended name:
    Structural maintenance of chromosomes protein 3
    Protein Accession:
    Q9UQE7
    Secondary Accessions:
    • A8K156
    • O60464
    • Q5T482

    Protein attributes for SMC3 Gene

    Size:
    1217 amino acids
    Molecular mass:
    141542 Da
    Quaternary structure:
    • Interacts with MXI1, MXD3 and MXD4. Interacts with SYCP2. Found in a complex with SMC1A, CDCA5 and RAD21, PDS5A/APRIN and PDS5B/SCC-112 (By similarity). Forms a heterodimer with SMC1A or SMC1B in cohesin complexes. Cohesin complexes are composed of the SMC1 (SMC1A or SMC1B) and SMC3 heterodimer attached via their hinge domain, RAD21 which link them, and one STAG protein (STAG1, STAG2 or STAG3), which interacts with RAD21. Also found in meiosis-specific cohesin complexes. Interacts with NUMA1, and forms a ternary complex with KIF3B and KIFAP3, suggesting a function in tethering the chromosomes to the spindle pole and in chromosome movement. Interacts with PDS5A and WAPAL; regulated by SMC3 acetylation. Interacts with RPGR (By similarity).
    Miscellaneous:
    • Mutated Cornelia de Lange cell lines display genomic instability and sensitivity to ionizing radiation and interstrand cross-linking agents
    SequenceCaution:
    • Sequence=AAD32447.1; Type=Frameshift; Positions=457, 488, 523; Evidence={ECO:0000305};

neXtProt entry for SMC3 Gene

Proteomics data for SMC3 Gene at MOPED

Post-translational modifications for SMC3 Gene

  • Acetylation at Lys-105 and Lys-106 by ESCO1 is important for genome stability and S phase sister chromatid cohesion. Regulated by DSCC1, it is required for processive DNA synthesis, coupling sister chromatid cohesion establishment during S phase to DNA replication. Deacetylation by HDAC8, regulates release of the cohesin complex from chromatin.
  • Phosphorylated at Ser-1083 in a SPO11-dependent manner.
  • Modification sites at PhosphoSitePlus
  • Ubiquitination at Lys26, Lys188, Lys194, Lys215, Lys956, Lys963, Lys1012, Lys1025, Lys1034, Lys1038, and Lys1190

Other Protein References for SMC3 Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

No data available for DME Specific Peptides for SMC3 Gene

Domains for SMC3 Gene

Gene Families for SMC3 Gene

HGNC:
  • ECMPG :Proteoglycans / Extracellular Matrix : Other
  • SMC :Structural maintenance of chromosomes proteins

Protein Domains for SMC3 Gene

UniProtKB/Swiss-Prot:

SMC3_HUMAN
Domain:
  • The flexible hinge domain, which separates the large intramolecular coiled coil regions, allows the heterotypic interaction with the corresponding domain of SMC1A or SMC1B, forming a V-shaped heterodimer. The two heads of the heterodimer are then connected by different ends of the cleavable RAD21 protein, forming a ring structure (By similarity).:
    • Q9UQE7
Family:
  • Belongs to the SMC family. SMC3 subfamily.:
    • Q9UQE7
genes like me logo Genes that share domains with SMC3: view

Function for SMC3 Gene

Molecular function for SMC3 Gene

UniProtKB/Swiss-Prot Function: Central component of cohesin, a complex required for chromosome cohesion during the cell cycle. The cohesin complex may form a large proteinaceous ring within which sister chromatids can be trapped. At anaphase, the complex is cleaved and dissociates from chromatin, allowing sister chromatids to segregate. Cohesion is coupled to DNA replication and is involved in DNA repair. The cohesin complex plays also an important role in spindle pole assembly during mitosis and in chromosomes movement.

Gene Ontology (GO) - Molecular Function for SMC3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003682 chromatin binding IEA --
GO:0003777 microtubule motor activity NAS 11590136
GO:0005515 protein binding IPI 11590136
GO:0005524 ATP binding IEA --
GO:0036033 mediator complex binding IEA --
genes like me logo Genes that share ontologies with SMC3: view
genes like me logo Genes that share phenotypes with SMC3: view

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targeting and HOMER Transcription for SMC3 Gene

Localization for SMC3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SMC3 Gene

Nucleus. Chromosome. Chromosome, centromere. Note=Associates with chromatin. Before prophase it is scattered along chromosome arms. During prophase, most of cohesin complexes dissociate from chromatin probably because of phosphorylation by PLK, except at centromeres, where cohesin complexes remain. At anaphase, the RAD21 subunit of the cohesin complex is cleaved, leading to the dissociation of the complex from chromosomes, allowing chromosome separation. The phosphorylated form at Ser-1083 is preferentially associated with unsynapsed chromosomal regions (By similarity). {ECO:0000250}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for SMC3 Gene COMPARTMENTS Subcellular localization image for SMC3 gene
Compartment Confidence
cytoskeleton 5
nucleus 5
cytosol 4
extracellular 4
mitochondrion 1

Gene Ontology (GO) - Cellular Components for SMC3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000775 chromosome, centromeric region TAS --
GO:0000785 chromatin IDA 16682347
GO:0000800 lateral element IEA --
GO:0000922 spindle pole IDA 11590136
GO:0005604 basement membrane TAS 9015313
genes like me logo Genes that share ontologies with SMC3: view

Pathways for SMC3 Gene

genes like me logo Genes that share pathways with SMC3: view

Pathways by source for SMC3 Gene

1 GeneGo (Thomson Reuters Life Sciences Research) pathway for SMC3 Gene
3 Cell Signaling Technology pathways for SMC3 Gene
1 BioSystems pathway for SMC3 Gene
15 Reactome pathways for SMC3 Gene
2 KEGG pathways for SMC3 Gene

Gene Ontology (GO) - Biological Process for SMC3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000278 mitotic cell cycle TAS --
GO:0006275 regulation of DNA replication IMP 19907496
GO:0006281 DNA repair IEA --
GO:0007052 mitotic spindle organization IEP 11590136
GO:0007062 sister chromatid cohesion NAS 11590136
genes like me logo Genes that share ontologies with SMC3: view

Compounds for SMC3 Gene

(1) Novoseek inferred chemical compound relationships for SMC3 Gene

Compound -log(P) Hits PubMed IDs
atp 0 3
genes like me logo Genes that share compounds with SMC3: view

Transcripts for SMC3 Gene

mRNA/cDNA for SMC3 Gene

Unigene Clusters for SMC3 Gene

Structural maintenance of chromosomes 3:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for SMC3 Gene

No ASD Table

Relevant External Links for SMC3 Gene

GeneLoc Exon Structure for
SMC3
ECgene alternative splicing isoforms for
SMC3

Expression for SMC3 Gene

mRNA expression in normal human tissues for SMC3 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for SMC3 Gene

SOURCE GeneReport for Unigene cluster for SMC3 Gene Hs.24485

genes like me logo Genes that share expressions with SMC3: view

Orthologs for SMC3 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for SMC3 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SMC3 36
  • 99.78 (n)
  • 100 (a)
SMC3 37
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia SMC3 36
  • 94.16 (n)
  • 99.01 (a)
SMC3 37
  • 100 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SMC3 36
  • 94.39 (n)
  • 100 (a)
SMC3 37
  • 100 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Smc3 36
  • 91.1 (n)
  • 99.92 (a)
Smc3 16
Smc3 37
  • 100 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia SMC3 37
  • 99 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 37
  • 98 (a)
OneToMany
-- 37
  • 99 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Smc3 36
  • 89.98 (n)
  • 100 (a)
chicken
(Gallus gallus)
Aves SMC3 36
  • 84.69 (n)
  • 99.34 (a)
SMC3 37
  • 99 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SMC3 37
  • 98 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia smc3 36
tropical clawed frog
(Silurana tropicalis)
Amphibia smc3 36
  • 79.81 (n)
  • 96.1 (a)
Str.5972 36
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.4168 36
zebrafish
(Danio rerio)
Actinopterygii Dr.24937 36
smc3 36
  • 77.3 (n)
  • 95.23 (a)
smc3 37
  • 95 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP006388 36
  • 53.94 (n)
  • 54.89 (a)
fruit fly
(Drosophila melanogaster)
Insecta Cap 36
  • 54.09 (n)
  • 54.26 (a)
Cap 37
  • 54 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea smc-3 36
  • 50.49 (n)
  • 42.08 (a)
smc-3 37
  • 39 (a)
OneToOne
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AAL182W 36
  • 46.93 (n)
  • 33.79 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes SMC3 36
  • 48.26 (n)
  • 35 (a)
SMC3 37
  • 32 (a)
OneToOne
SMC3 39
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0A00286g 36
  • 46.53 (n)
  • 33.79 (a)
thale cress
(Arabidopsis thaliana)
eudicotyledons TTN7 36
  • 51.21 (n)
  • 40.28 (a)
barley
(Hordeum vulgare)
Liliopsida Hv.1790 36
rice
(Oryza sativa)
Liliopsida Os.21109 36
Os02g0133300 36
  • 51.4 (n)
  • 41.36 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes psm3 36
  • 49.59 (n)
  • 40.45 (a)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.3392 36
sea squirt
(Ciona savignyi)
Ascidiacea CSA.10931 37
  • 72 (a)
OneToOne
Species with no ortholog for SMC3:
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for SMC3 Gene

ENSEMBL:
Gene Tree for SMC3 (if available)
TreeFam:
Gene Tree for SMC3 (if available)

Paralogs for SMC3 Gene

Selected SIMAP similar genes for SMC3 Gene using alignment to 2 proteins:

Pseudogenes.org Pseudogenes for SMC3 Gene

genes like me logo Genes that share paralogs with SMC3: view

No data available for Paralogs for SMC3 Gene

Variants for SMC3 Gene

Sequence variations from dbSNP and Humsavar for SMC3 Gene

SNP ID Clin Chr 10 pos Sequence Context AA Info Type MAF
rs1856802 -- 110,575,877(+) TTGAG(A/G)TTGCA intron-variant
rs1856804 -- 110,569,589(-) CAGGT(C/T)TGTTA intron-variant
rs1890920 -- 110,599,982(+) AACCA(A/T)TCTAG intron-variant
rs1970437 -- 110,599,201(+) CAAGC(A/G)ATTCT intron-variant
rs1972374 -- 110,570,853(-) TGTTT(A/T)ATCAG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for SMC3 Gene

Variant ID Type Subtype PubMed ID
nsv7211 OTHER Inversion 18451855
nsv467454 CNV Gain 19166990
nsv526452 CNV Gain 19592680
nsv508607 CNV Loss 20534489

Relevant External Links for SMC3 Gene

HapMap Linkage Disequilibrium report
SMC3
Human Gene Mutation Database (HGMD)
SMC3
Locus Specific Mutation Databases (LSDB)
SMC3

Disorders for SMC3 Gene

(1) OMIM Diseases for SMC3 Gene (606062)

UniProtKB/Swiss-Prot

SMC3_HUMAN
  • Cornelia de Lange syndrome 3 (CDLS3) [MIM:610759]: A form of Cornelia de Lange syndrome, a clinically heterogeneous developmental disorder associated with malformations affecting multiple systems. Characterized by facial dysmorphisms, abnormal hands and feet, growth delay, cognitive retardation, hirsutism, gastroesophageal dysfunction and cardiac, ophthalmologic and genitourinary anomalies. Cornelia de Lange syndrome type 3 is a mild form with absence of major structural anomalies. The phenotype in some instances approaches that of apparently non-syndromic mental retardation. {ECO:0000269 PubMed:17273969}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(2) Novoseek inferred disease relationships for SMC3 Gene

Disease -log(P) Hits PubMed IDs
colon carcinoma 40.1 4
tumors 0 1

Relevant External Links for SMC3

Genetic Association Database (GAD)
SMC3
Human Genome Epidemiology (HuGE) Navigator
SMC3
genes like me logo Genes that share disorders with SMC3: view

Publications for SMC3 Gene

  1. Mutations in cohesin complex members SMC3 and SMC1A cause a mild variant of Cornelia de Lange syndrome with predominant mental retardation. (PMID: 17273969) Deardorff M.A. … Krantz I.D. (Am. J. Hum. Genet. 2007) 3 4 23
  2. Cornelia de Lange syndrome mutations in SMC1A or SMC3 affect binding to DNA. (PMID: 18996922) Revenkova E. … Musio A. (Hum. Mol. Genet. 2009) 3 4 23
  3. Mutations and variants in the cohesion factor genes NIPBL, SMC1A, and SMC3 in a cohort of 30 unrelated patients with Cornelia de Lange syndrome. (PMID: 20358602) Pie J. … Ramos F.J. (Am. J. Med. Genet. A 2010) 3 23 49
  4. Complex formation of SMAP/KAP3, a KIF3A/B ATPase motor-associated protein, with a human chromosome-associated polypeptide. (PMID: 9506951) Shimizu K. … Takai Y. (J. Biol. Chem. 1998) 2 3 4
  5. Regulation of intra-S phase checkpoint by ionizing radiation (IR)-dependent and IR-independent phosphorylation of SMC3. (PMID: 18442975) Luo H. … Qin J. (J. Biol. Chem. 2008) 3 23

Products for SMC3 Gene

Sources for SMC3 Gene

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