SREK1 (splicing regulatory glutamic acid and lysine rich protein 1)

2014-11-01  

Identity

HGNC
SREK1
LOCATION
5q12.3
LOCUSID
140890
ALIAS
SFRS12,SRrp508,SRrp86
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 140890
MIM: 609268
HGNC: 17882
Ensembl: ENSG00000153914

Variants:

dbSNP: 140890
ClinVar: 140890
TCGA: ENSG00000153914
COSMIC: SREK1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000153914ENST00000334121Q8WXA9
ENSG00000153914ENST00000380918Q8WXA9
ENSG00000153914ENST00000520953E5RK30
ENSG00000153914ENST00000521691E5RJ76
ENSG00000153914ENST00000522912E5RFV3
ENSG00000153914ENST00000523655H0YC47
ENSG00000153914ENST00000612404A0A087WY03

Expression (GTEx)

0
10
20
30
40
50
60
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
352966592022The aberrant upregulation of exon 10-inclusive SREK1 through SRSF10 acts as an oncogenic driver in human hepatocellular carcinoma.16
352966592022The aberrant upregulation of exon 10-inclusive SREK1 through SRSF10 acts as an oncogenic driver in human hepatocellular carcinoma.16
345569832021The rs74794265 SNP of the SREK1 Gene is Associated with COPD in Kashi, China.3
345569832021The rs74794265 SNP of the SREK1 Gene is Associated with COPD in Kashi, China.3
325331682020Pathogenic SREK1 decrease in Huntington's disease lowers TAF1 mimicking X-linked dystonia parkinsonism.12
325331682020Pathogenic SREK1 decrease in Huntington's disease lowers TAF1 mimicking X-linked dystonia parkinsonism.12
204008562010Analysis of SRrp86-regulated alternative splicing: control of c-Jun and IκBβ activity.2
204008562010Analysis of SRrp86-regulated alternative splicing: control of c-Jun and IκBβ activity.2
154569402004The splicing regulatory protein p18SRP is down-regulated in Alzheimer's disease brain.3
154569402004The splicing regulatory protein p18SRP is down-regulated in Alzheimer's disease brain.3
119916452002Regulation of alternative splicing by SRrp86 through coactivation and repression of specific SR proteins.8
121834482002A unique glutamic acid-lysine (EK) domain acts as a splicing inhibitor.9
119916452002Regulation of alternative splicing by SRrp86 through coactivation and repression of specific SR proteins.8
121834482002A unique glutamic acid-lysine (EK) domain acts as a splicing inhibitor.9

Citation

Dessen P

SREK1 (splicing regulatory glutamic acid and lysine rich protein 1)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/74227/case-report-explorer/js/lib/zoomerang.js