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Aliases for SMC3 Gene

Aliases for SMC3 Gene

  • Structural Maintenance Of Chromosomes 3 2 3 5
  • 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
  • CSPG6 3 4
  • HCAP 3 4
  • BAM 3 4
  • BMH 3 4
  • Chondroitin Sulfate Proteoglycan 6 4
  • Bamacan Proteoglycan 2
  • Bamacan 4
  • CDLS3 3
  • SMC-3 4

External Ids for SMC3 Gene

Previous HGNC Symbols for SMC3 Gene

  • CSPG6

Previous GeneCards Identifiers for SMC3 Gene

  • GC10P112318
  • GC10P105957

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 Transport to the Golgi and subsequent modification and SUMOylation. 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

Regulatory Elements for SMC3 Gene

Promoters for SMC3 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around SMC3 on UCSC Golden Path with GeneCards custom track

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

Genomic Location for SMC3 Gene

Chromosome:
10
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

Genes around SMC3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SMC3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SMC3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SMC3 Gene

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/SCC-112 and PDS5B/APRIN (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 WAPL; regulated by SMC3 acetylation. Interacts with RPGR (By similarity). Interacts (via central hinge region) with KIAA1328 (via N- and C-terminal domains) (PubMed:15656913).
    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.
  • Ubiquitination at Lys 26, Lys 188, Lys 194, Lys 215, Lys 963, Lys 1012, Lys 1025, Lys 1034, Lys 1038, and Lys 1190
  • Modification sites at PhosphoSitePlus

Other Protein References for SMC3 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for SMC3 (SMC3)

No data available for DME Specific Peptides for SMC3 Gene

Domains & Families for SMC3 Gene

Protein Domains for SMC3 Gene

Suggested Antigen Peptide Sequences for SMC3 Gene

Graphical View of Domain Structure for InterPro Entry

Q9UQE7

UniProtKB/Swiss-Prot:

SMC3_HUMAN :
  • 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).
  • Belongs to the SMC family. SMC3 subfamily.
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).
Family:
  • Belongs to the SMC family. SMC3 subfamily.
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
genes like me logo Genes that share ontologies with SMC3: view
genes like me logo Genes that share phenotypes with SMC3: view

Human Phenotype Ontology for SMC3 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for SMC3 Gene

MGI Knock Outs for SMC3:
  • Smc3 tm1a(EUCOMM)Wtsi

Animal Model Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets 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
cytosol 5
nucleus 5
extracellular 4
mitochondrion 1

Gene Ontology (GO) - Cellular Components for SMC3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005604 basement membrane IEA --
GO:0005654 nucleoplasm TAS --
GO:0005737 cytoplasm IDA 11590136
GO:0016363 nuclear matrix IDA 11590136
GO:0030893 meiotic cohesin complex IEA,IDA 21242291
genes like me logo Genes that share ontologies with SMC3: view

Pathways & Interactions for SMC3 Gene

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

SIGNOR curated interactions for SMC3 Gene

Other effect:

Gene Ontology (GO) - Biological Process for SMC3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006275 regulation of DNA replication IMP 19907496
GO:0007062 sister chromatid cohesion NAS,TAS --
GO:0016925 protein sumoylation TAS --
GO:0019827 stem cell population maintenance IEA --
GO:0032876 negative regulation of DNA endoreduplication IMP 15917200
genes like me logo Genes that share ontologies with SMC3: view

Drugs & Compounds for SMC3 Gene

(1) Drugs for SMC3 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
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

Protein differential expression in normal tissues from HIPED for SMC3 Gene

This gene is overexpressed in Lymph node (15.0) and Peripheral blood mononuclear cells (9.8).

Integrated Proteomics: protein expression in normal tissues and cell lines 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 expression patterns with SMC3: view

Protein tissue co-expression partners for SMC3 Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for SMC3 Gene

Orthologs for SMC3 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for SMC3 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia SMC3 35
  • 94.16 (n)
  • 99.01 (a)
SMC3 36
  • 100 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SMC3 35
  • 94.39 (n)
  • 100 (a)
SMC3 36
  • 100 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia SMC3 35
  • 99.78 (n)
  • 100 (a)
SMC3 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Smc3 35
  • 89.98 (n)
  • 100 (a)
mouse
(Mus musculus)
Mammalia Smc3 16
Smc3 36
  • 100 (a)
OneToOne
Smc3 35
  • 91.1 (n)
  • 99.92 (a)
oppossum
(Monodelphis domestica)
Mammalia SMC3 36
  • 99 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 98 (a)
OneToMany
-- 36
  • 99 (a)
OneToMany
chicken
(Gallus gallus)
Aves SMC3 35
  • 84.69 (n)
  • 99.34 (a)
SMC3 36
  • 99 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SMC3 36
  • 98 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia smc3 35
  • 79.81 (n)
  • 96.1 (a)
Str.5972 35
African clawed frog
(Xenopus laevis)
Amphibia smc3 35
zebrafish
(Danio rerio)
Actinopterygii Dr.24937 35
smc3 35
  • 77.3 (n)
  • 95.23 (a)
smc3 36
  • 95 (a)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.4168 35
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP006388 35
  • 53.94 (n)
  • 54.89 (a)
fruit fly
(Drosophila melanogaster)
Insecta Cap 35
  • 54.09 (n)
  • 54.26 (a)
Cap 36
  • 54 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea smc-3 35
  • 50.49 (n)
  • 42.08 (a)
smc-3 36
  • 39 (a)
OneToOne
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AAL182W 35
  • 46.93 (n)
  • 33.79 (a)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0A00286g 35
  • 46.53 (n)
  • 33.79 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes SMC3 35
  • 48.26 (n)
  • 35 (a)
SMC3 36
  • 32 (a)
OneToOne
SMC3 38
thale cress
(Arabidopsis thaliana)
eudicotyledons TTN7 35
  • 51.21 (n)
  • 40.28 (a)
barley
(Hordeum vulgare)
Liliopsida Hv.1790 35
rice
(Oryza sativa)
Liliopsida Os.21109 35
Os02g0133300 35
  • 51.4 (n)
  • 41.36 (a)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.3392 35
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes psm3 35
  • 49.59 (n)
  • 40.45 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.10931 36
  • 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

(1) 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
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
rs1890921 -- 110,600,244(+) AAAAG(A/G)GCCAG intron-variant
rs1970437 -- 110,599,201(+) CAAGC(A/G)ATTCT 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

Variation tolerance for SMC3 Gene

Residual Variation Intolerance Score: 3.67% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.41; 9.01% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for SMC3 Gene

HapMap Linkage Disequilibrium report
SMC3
Human Gene Mutation Database (HGMD)
SMC3

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SMC3 Gene

Disorders for SMC3 Gene

MalaCards: The human disease database

(9) MalaCards diseases for SMC3 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
cornelia de lange syndrome 3
  • cdls3
smc3-related cornelia de lange syndrome
  • cornelia de lange syndrome 3
cornelia de lange syndrome
  • brachmann de lange syndrome
wiedemann-steiner syndrome
  • weaver syndrome
alzheimer disease
  • alzheimer disease, late-onset
- elite association - COSMIC cancer census association via MalaCards
Search SMC3 in MalaCards View complete list of genes associated with diseases

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.

Relevant External Links for SMC3

Genetic Association Database (GAD)
SMC3
Human Genome Epidemiology (HuGE) Navigator
SMC3
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SMC3
genes like me logo Genes that share disorders with SMC3: view

No data available for Genatlas for SMC3 Gene

Publications for SMC3 Gene

  1. 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 67
  2. 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
  3. Cornelia de Lange syndrome mutations in SMC1A or SMC3 affect binding to DNA. (PMID: 18996922) Revenkova E. … Musio A. (Hum. Mol. Genet. 2009) 3 23
  4. The cohesin complex is required for the DNA damage-induced G2/M checkpoint in mammalian cells. (PMID: 19629043) Watrin E. … Peters J.M. (EMBO J. 2009) 3 23
  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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