SMU1 (SMU1 DNA replication regulator and spliceosomal factor)

2014-11-01  

Identity

HGNC
SMU1
LOCATION
9p21.1
LOCUSID
55234
ALIAS
BWD,SMU-1,fSAP57
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 55234
MIM: 617811
HGNC: 18247
Ensembl: ENSG00000122692

Variants:

dbSNP: 55234
ClinVar: 55234
TCGA: ENSG00000122692
COSMIC: SMU1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000122692ENST00000397149Q2TAY7
ENSG00000122692ENST00000397149A0MNN4

Expression (GTEx)

0
5
10
15
20
25
30
35
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

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
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
249453532014Recruitment of RED-SMU1 complex by Influenza A Virus RNA polymerase to control Viral mRNA splicing.14
237275732013Loss of Smu1 function de-represses DNA replication and over-activates ATR-dependent replication checkpoint.7
295071172018CRL7SMU1 E3 ligase complex-driven H2B ubiquitylation functions in sister chromatid cohesion by regulating SMC1 expression.2
314097872019Smu1 and RED are required for activation of spliceosomal B complexes assembled on short introns.2
310765552019Destabilization of the human RED-SMU1 splicing complex as a basis for host-directed antiinfluenza strategy.1

Citation

Dessen P

SMU1 (SMU1 DNA replication regulator and spliceosomal factor)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/73595/smu1