SEPSECS (Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase)

2016-10-01  

Identity

HGNC
SEPSECS
LOCATION
4p15.2
LOCUSID
51091
ALIAS
LP,PCH2D,SLA,SLA/LP
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 51091
MIM: 613009
HGNC: 30605
Ensembl: ENSG00000109618

Variants:

dbSNP: 51091
ClinVar: 51091
TCGA: ENSG00000109618
COSMIC: SEPSECS

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000109618ENST00000358971J3KP25
ENSG00000109618ENST00000382103Q9HD40
ENSG00000109618ENST00000503150H0Y9D2
ENSG00000109618ENST00000513285D6R969
ENSG00000109618ENST00000514585Q9HD40

Expression (GTEx)

0
5
10
15
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
Selenocompound metabolismKEGGko00450
Aminoacyl-tRNA biosynthesisKEGGko00970
Selenocompound metabolismKEGGhsa00450
Aminoacyl-tRNA biosynthesisKEGGhsa00970
MetabolismREACTOMER-HSA-1430728
Metabolism of amino acids and derivativesREACTOMER-HSA-71291
Selenoamino acid metabolismREACTOMER-HSA-2408522
Selenocysteine synthesisREACTOMER-HSA-2408557

References

Pubmed IDYearTitleCitations
196089192009The human SepSecS-tRNASec complex reveals the mechanism of selenocysteine formation.52
209206672010Mutations disrupting selenocysteine formation cause progressive cerebello-cerebral atrophy.39
204711332011A combination of functional polymorphisms in the CASP8, MMP1, IL10 and SEPS1 genes affects risk of non-small cell lung cancer.32
281338632017Genetics and genotype-phenotype correlations in early onset epileptic encephalopathy with burst suppression.17
231129132012Selenium, selenoprotein genes and Crohn's disease in a case-control population from Auckland, New Zealand.13
261157352015Selenoprotein biosynthesis defect causes progressive encephalopathy with elevated lactate.10
196834152010SLA/LP/tRNP((Ser)Sec) antigen in autoimmune hepatitis: identification of the native protein in human hepatic cell extract.6
206239982010Human SepSecS or SLA/LP: selenocysteine formation and autoimmune hepatitis.5
268884822016Milder progressive cerebellar atrophy caused by biallelic SEPSECS mutations.4
275763442016Structural basis for early-onset neurological disorders caused by mutations in human selenocysteine synthase.4

Citation

Dessen P

SEPSECS (Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase)

Atlas Genet Cytogenet Oncol Haematol. 2016-10-01

Online version: http://atlasgeneticsoncology.org/gene/56393/sepsecs