SMC3
entrez
9126
canonical
uniprot
Q9UQE7
canonical
ensembl
ENSG00000108055
resolver
ensp
ENSP00000354720
resolver
enst
ENST00000361804
resolver
genesymbol
SMC3
resolver
genesymbol_syn
BAM
resolver
genesymbol_syn
BMH
resolver
genesymbol_syn
CSPG6
resolver
genesymbol_syn
SMC3L1
resolver
hgnc
HGNC:2468
resolver
uniprot
A8K156
resolver
uniprot
O60464
resolver
uniprot
Q5T482
resolver
uniprot_entry
SMC3_HUMAN
resolver
uniprot_sec
A8K156
resolver
uniprot_sec
O60464
resolver
uniprot_sec
Q5T482
resolver
amino_acid_sequence
MYIKQVIIQGFRSYRDQTIVDPFSSKHNVIVGRNGSGKSNFFYAIQFVLSDEFSHLRPEQRLALLHEGTGPRVISAFVEIIFDNSDNRLPIDKEEVSLRRVIGAKKDQYFLDKKMVTKNDVMNLLESAGFSRSNPYYIVKQGKINQMATAPDSQRLKLLREVAGTRVYDERKEESISLMKETEGKREKINELLKYIEERLHTLEEEKEELAQYQKWDKMRRALEYTIYNQELNETRAKLDELSAKRETSGEKSRQLRDAQQDARDKMEDIERQVRELKTKISAMKEEKEQLSAERQEQIKQRTKLELKAKDLQDELAGNSEQRKRLLKERQKLLEKIEEKQKELAETEPKFNSVKEKEERGIARLAQATQERTDLYAKQGRGSQFTSKEERDKWIKKELKSLDQAINDKKRQIAAIHKDLEDTEANKEKNLEQYNKLDQDLNEVKARVEELDRKYYEVKNKKDELQSERNYLWREENAEQQALAAKREDLEKKQQLLRAATGKAILNGIDSINKVLDHFRRKGINQHVQNGYHGIVMNNFECEPAFYTCVEVTAGNRLFYHIVDSDEVSTKILMEFNKMNLPGEVTFLPLNKLDVRDTAYPETNDAIPMISKLRYNPRFDKAFKHVFGKTLICRSMEVSTQLARAFTMDCITLEGDQVSHRGALTGGYYDTRKSRLELQKDVRKAEEELGELEAKLNENLRRNIERINNEIDQLMNQMQQIETQQRKFKASRDSILSEMKMLKEKRQQSEKTFMPKQRSLQSLEASLHAMESTRESLKAELGTDLLSQLSLEDQKRVDALNDEIRQLQQENRQLLNERIKLEGIITRVETYLNENLRKRLDQVEQELNELRETEGGTVLTATTSELEAINKRVKDTMARSEDLDNSIDKTEAGIKELQKSMERWKNMEKEHMDAINHDTKELEKMTNRQGMLLKKKEECMKKIRELGSLPQEAFEKYQTLSLKQLFRKLEQCNTELKKYSHVNKKALDQFVNFSEQKEKLIKRQEELDRGYKSIMELMNVLELRKYEAIQLTFKQVSKNFSEVFQKLVPGGKATLVMKKGDVEGSQSQDEGEGSGESERGSGSQSSVPSVDQFTGVGIRVSFTGKQGEMREMQQLSGGQKSLVALALIFAIQKCDPAPFYLFDEIDQALDAQHRKAVSDMIMELAVHAQFITTTFRPELLESADKFYGVKFRNKVSHIDVITAEMAKDFVEDDTTHG
uniprot
proteins
disease_involvement
DISEASE: Cornelia de Lange syndrome 3 with or without midline brain defects (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 intellectual disability. {ECO:0000269|PubMed:17273969, ECO:0000269|PubMed:18996922, ECO:0000269|PubMed:31334757}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
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 also plays an important role in spindle pole assembly during mitosis and in chromosomes movement. {ECO:0000269|PubMed:11076961, ECO:0000269|PubMed:19907496}.
uniprot
proteins
mass_dalton
141542
uniprot
proteins
mutagenesis
MUTAGEN 105; /note="K->A: 20% loss of sister chromatid cohesion, no effect on cohesin complex assembly; when associated with A-106."; /evidence="ECO:0000269|PubMed:18614053, ECO:0000269|PubMed:19907496"; MUTAGEN 105; /note="K->Q: No effect on sister chromatid cohesion, nor on cohesin complex assembly; when associated with Q-106."; /evidence="ECO:0000269|PubMed:18614053"; MUTAGEN 105; /note="K->R: Stabilizes interaction with PDS5A and WAPL; when associated with R-106."; /evidence="ECO:0000269|PubMed:19907496"; MUTAGEN 106; /note="K->A: 20% loss of sister chromatid cohesion, no effect on cohesin complex assembly; when associated with A-105."; /evidence="ECO:0000269|PubMed:18614053, ECO:0000269|PubMed:19907496"; MUTAGEN 106; /note="K->Q: No effect on sister chromatid cohesion, nor on cohesin complex assembly; when associated with Q-105."; /evidence="ECO:0000269|PubMed:18614053"; MUTAGEN 106; /note="K->R: Stabilizes interaction with PDS5A and WAPL; when associated with R-105."; /evidence="ECO:0000269|PubMed:19907496
uniprot
proteins
post_translational_modification
PTM: Ubiquitinated by the DCX(DCAF15) complex, leading to its degradation. {ECO:0000269|PubMed:31452512}.; PTM: Phosphorylated at Ser-1083 in a SPO11-dependent manner. {ECO:0000250|UniProtKB:Q9CW03}.; PTM: 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. {ECO:0000269|PubMed:18614053, ECO:0000269|PubMed:19907496, ECO:0000269|PubMed:22885700}.
uniprot
proteins
protein_family
SMC family
uniprot
proteins
protein_family
SMC3 subfamily
uniprot
proteins
pubmed
11042152
uniprot
proteins
pubmed
11076961
uniprot
proteins
pubmed
11590136
uniprot
proteins
pubmed
12198550
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15164054
uniprot
proteins
pubmed
15656913
uniprot
proteins
pubmed
15837422
uniprot
proteins
pubmed
17105772
uniprot
proteins
pubmed
17273969
uniprot
proteins
pubmed
17525332
uniprot
proteins
pubmed
18614053
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
18691976
uniprot
proteins
pubmed
18996922
uniprot
proteins
pubmed
19367720
uniprot
proteins
pubmed
19608861
uniprot
proteins
pubmed
19690332
uniprot
proteins
pubmed
19907496
uniprot
proteins
pubmed
20068231
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
21406692
uniprot
proteins
pubmed
22628566
uniprot
proteins
pubmed
22885700
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
31334757
uniprot
proteins
pubmed
31452512
uniprot
proteins
pubmed
32409525
uniprot
proteins
pubmed
9506951
uniprot
proteins
sequence_length
1217
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus {ECO:0000250|UniProtKB:Q9CW03}. Chromosome {ECO:0000250|UniProtKB:Q9CW03}. Chromosome, centromere {ECO:0000250|UniProtKB:Q9CW03}. 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|UniProtKB:Q9CW03}.
uniprot
proteins