NSMCE3 (NSE3 homolog, SMC5-SMC6 complex component)

2015-11-01 Affiliation

Identity

HGNC

NSMCE3

LOCATION

15q13.1

LOCUSID

56160

ALIAS

HCA4,LICS,MAGEG1,MAGEL3,NDNL2,NSE3

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool

Other Information

Locus ID:

NCBI: 56160
MIM: 608243
HGNC: 7677
Ensembl: ENSG00000185115

Variants:

dbSNP: 56160
ClinVar: 56160
TCGA: ENSG00000185115
COSMIC: NSMCE3

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000185115	ENST00000332303	Q96MG7

Expression (GTEx)

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

Pathway	Source	External ID
Metabolism of proteins	REACTOME	R-HSA-392499
Post-translational protein modification	REACTOME	R-HSA-597592
SUMOylation	REACTOME	R-HSA-2990846
SUMO E3 ligases SUMOylate target proteins	REACTOME	R-HSA-3108232
SUMOylation of DNA damage response and repair proteins	REACTOME	R-HSA-3108214

References

Pubmed ID	Year	Title	Citations
18086888	2008	Identification of the proteins, including MAGEG1, that make up the human SMC5-6 protein complex.	39
27427983	2016	Destabilized SMC5/6 complex leads to chromosome breakage syndrome with severe lung disease.	16
11782285	2001	A necdin/MAGE-like gene in the chromosome 15 autism susceptibility region: expression, imprinting, and mapping of the human and mouse orthologues.	12

Citation

Dessen P

NSMCE3 (NSE3 homolog, SMC5-SMC6 complex component)

Atlas Genet Cytogenet Oncol Haematol. 2015-11-01

Online version: http://atlasgeneticsoncology.org/gene/55529/nsmce3