SMC5 (structural maintenance of chromosomes 5)

2007-02-01  

Identity

HGNC
SMC5
LOCATION
9q21.12
LOCUSID
23137
ALIAS
SMC5L1
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 23137
MIM: 609386
HGNC: 20465
Ensembl: ENSG00000198887

Variants:

dbSNP: 23137
ClinVar: 23137
TCGA: ENSG00000198887
COSMIC: SMC5

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000198887ENST00000361138Q8IY18

Expression (GTEx)

0
10
20
30
40
50
60
70
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Metabolism of proteinsREACTOMER-HSA-392499
Post-translational protein modificationREACTOMER-HSA-597592
SUMOylationREACTOMER-HSA-2990846
SUMO E3 ligases SUMOylate target proteinsREACTOMER-HSA-3108232
SUMOylation of DNA damage response and repair proteinsREACTOMER-HSA-3108214

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
175895262007The SMC5/6 complex maintains telomere length in ALT cancer cells through SUMOylation of telomere-binding proteins.142
168103162006Human SMC5/6 complex promotes sister chromatid homologous recombination by recruiting the SMC1/3 cohesin complex to double-strand breaks.99
269835412016Hepatitis B virus X protein identifies the Smc5/6 complex as a host restriction factor.98
160557142005Human MMS21/NSE2 is a SUMO ligase required for DNA repair.87
251458512014The maintenance of chromosome structure: positioning and functioning of SMC complexes.87
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
276266562016Hepatitis B Virus X Protein Promotes Degradation of SMC5/6 to Enhance HBV Replication.54
180868882008Identification of the proteins, including MAGEG1, that make up the human SMC5-6 protein complex.39
186675312008Nse1 RING-like domain supports functions of the Smc5-Smc6 holocomplex in genome stability.31
242580232014Smc5/6-mediated regulation of replication progression contributes to chromosome assembly during mitosis in human cells.30

Citation

Dessen P

SMC5 (structural maintenance of chromosomes 5)

Atlas Genet Cytogenet Oncol Haematol. 2007-02-01

Online version: http://atlasgeneticsoncology.org/gene/45967/smc5