SMC5
entrez
23137
canonical
uniprot
Q8IY18
canonical
ensembl
ENSG00000198887
resolver
ensp
ENSP00000354957
resolver
ensp
ENSP00000554459
resolver
ensp
ENSP00000554460
resolver
ensp
ENSP00000583031
resolver
ensp
ENSP00000583033
resolver
ensp
ENSP00000583034
resolver
ensp
ENSP00000794364
resolver
enst
ENST00000361138
resolver
genesymbol
SMC5
resolver
genesymbol_syn
KIAA0594
resolver
genesymbol_syn
SMC5L1
resolver
hgnc
HGNC:20465
resolver
uniprot
A6NM81
resolver
uniprot
O60335
resolver
uniprot
Q05D92
resolver
uniprot
Q5VZ60
resolver
uniprot
Q96SB9
resolver
uniprot_entry
SMC5_HUMAN
resolver
uniprot_sec
A6NM81
resolver
uniprot_sec
O60335
resolver
uniprot_sec
Q05D92
resolver
uniprot_sec
Q5VZ60
resolver
uniprot_sec
Q96SB9
resolver
amino_acid_sequence
MATPSKKTSTPSPQPSKRALPRDPSSEVPSKRKNSAPQLPLLQSSGPFVEGSIVRISMENFLTYDICEVSPGPHLNMIVGANGTGKSSIVCAICLGLAGKPAFMGRADKVGFFVKRGCSRGMVEIELFRASGNLVITREIDVAKNQSFWFINKKSTTQKIVEEKVAALNIQVGNLCQFLPQDKVGEFAKLSKIELLEATEKSIGPPEMHKYHCELKNLREKEKQLETSCKEKTEYLQKMVQRNERYKQDVERFYERKRHLDLIEMLEAKRPWVEYENVRQEYEEVKLVRDRVKEEVRKLKEGQIPVTCRIEEMENERHNLEARIKEKATDIKEASQKCKQKQDVIERKDKHIEELQQALIVKQNEELDRQRRIGNTRKMIEDLQNELKTTENCENLQPQIDAITNDLRRIQDEKALCEGEIIDKRRERETLEKEKKSVDDHIVRFDNLMNQKEDKLRQRFRDTYDAVLWLRNNRDKFKQRVCEPIMLTINMKDNKNAKYIENHIPSNDLRAFVFESQEDMEVFLKEVRDNKKLRVNAVIAPKSSYADKAPSRSLNELKQYGFFSYLRELFDAPDPVMSYLCCQYHIHEVPVGTEKTRERIERVIQETRLKQIYTAEEKYVVKTSFYSNKVISSNTSLKVAQFLTVTVDLEQRRHLEEQLKEIHRKLQAVDSGLIALRETSKHLEHKDNELRQKKKELLERKTKKRQLEQKISSKLGSLKLMEQDTCNLEEEERKASTKIKEINVQKAKLVTELTNLIKICTSLHIQKVDLILQNTTVISEKNKLESDYMAASSQLRLTEQHFIELDENRQRLLQKCKELMKRARQVCNLGAEQTLPQEYQTQVPTIPNGHNSSLPMVFQDLPNTLDEIDALLTEERSRASCFTGLNPTIVQEYTKREEEIEQLTEELKGKKVELDQYRENISQVKERWLNPLKELVEKINEKFSNFFSSMQCAGEVDLHTENEEDYDKYGIRIRVKFRSSTQLHELTPHHQSGGERSVSTMLYLMALQELNRCPFRVVDEINQGMDPINERRVFEMVVNTACKENTSQYFFITPKLLQNLPYSEKMTVLFVYNGPHMLEPNTWNLKAFQRRRRRITFTQPS
uniprot
proteins
disease_involvement
DISEASE: Atelis syndrome 2 (ATELS2) [MIM:620185]: A form of Atelis syndrome, an autosomal recessive neurodevelopmental disorder characterized by mild to severe developmental delay, learning difficulties, microcephaly, and growth restriction with short stature. Additional features include anemia, skin hyperpigmentation, ocular anomalies, congenital heart defects, and mild skeletal abnormalities. Death in childhood may occur. Patient cells show spontaneous chromosome breakage and chromosomal anomalies, hallmarked by segmented and dicentric chromosomes and mosaic variegated hyperploidy. {ECO:0000269|PubMed:36333305}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Core component of the SMC5-SMC6 complex, a complex involved in repair of DNA double-strand breaks by homologous recombination. The complex may promote sister chromatid homologous recombination by recruiting the SMC1-SMC3 cohesin complex to double-strand breaks. The complex is required for telomere maintenance via recombination in ALT (alternative lengthening of telomeres) cell lines and mediates sumoylation of shelterin complex (telosome) components which is proposed to lead to shelterin complex disassembly in ALT-associated PML bodies (APBs). Required for recruitment of telomeres to PML nuclear bodies. Required for sister chromatid cohesion during prometaphase and mitotic progression; the function seems to be independent of SMC6. SMC5-SMC6 complex may prevent transcription of episomal DNA, such as circular viral DNA genome (PubMed:26983541). {ECO:0000269|PubMed:16810316, ECO:0000269|PubMed:17589526, ECO:0000269|PubMed:19502785, ECO:0000269|PubMed:26983541}.
uniprot
proteins
mass_dalton
128806
uniprot
proteins
post_translational_modification
PTM: Sumoylated. {ECO:0000269|PubMed:18086888}.; PTM: Ubiquitinated. {ECO:0000269|PubMed:18086888}.; PTM: (Microbial infection) SMC5-SMC6 complex is degraded by the activity of Hepatitis B X protein. {ECO:0000269|PubMed:26983541}.
uniprot
proteins
protein_family
SMC family
uniprot
proteins
protein_family
SMC5 subfamily
uniprot
proteins
pubmed
11408570
uniprot
proteins
pubmed
12168954
uniprot
proteins
pubmed
15164053
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16055714
uniprot
proteins
pubmed
16810316
uniprot
proteins
pubmed
17589526
uniprot
proteins
pubmed
18086888
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
19502785
uniprot
proteins
pubmed
19690332
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
25931565
uniprot
proteins
pubmed
26983541
uniprot
proteins
pubmed
35914008
uniprot
proteins
pubmed
36333305
uniprot
proteins
pubmed
36373674
uniprot
proteins
pubmed
9628581
uniprot
proteins
sequence_length
1101
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:11408570, ECO:0000269|PubMed:25931565, ECO:0000269|PubMed:35914008}. Chromosome {ECO:0000250|UniProtKB:Q8CG46}. Nucleus, PML body {ECO:0000269|PubMed:17589526, ECO:0000269|PubMed:36373674}. Chromosome, telomere {ECO:0000269|PubMed:17589526}. Note=Associates with chromatin (PubMed:25931565). Colocalizes with SMC6 on the X-Y chromosome pair within the sex vesicle during late pachytene/diplotene (By similarity). Localizes to PML nuclear bodies in ALT cell lines (PubMed:17589526). Accumulates with RAD18 and the SLF1-SLF2 complex at replication-coupled DNA interstrand repair and DNA double-strand breaks (DSBs) sites on chromatin in a ubiquitin-dependent manner (PubMed:25931565). {ECO:0000250|UniProtKB:Q8CG46, ECO:0000269|PubMed:25931565}.
uniprot
proteins