LIAS (lipoic acid synthetase)

2014-11-01  

Identity

HGNC
LIAS
LOCATION
4p14
LOCUSID
11019
ALIAS
HGCLAS,HUSSY-01,LAS,LIP1,LS,PDHLD
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 11019
MIM: 607031
HGNC: 16429
Ensembl: ENSG00000121897

Variants:

dbSNP: 11019
ClinVar: 11019
TCGA: ENSG00000121897
COSMIC: LIAS

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000121897ENST00000261434A0A1X7SBR7
ENSG00000121897ENST00000340169O43766
ENSG00000121897ENST00000381846O43766
ENSG00000121897ENST00000424936Q6P5Q6
ENSG00000121897ENST00000509519B4E0L7
ENSG00000121897ENST00000513731D6RCP8
ENSG00000121897ENST00000638422A0A1W2PNQ5
ENSG00000121897ENST00000638430A0A1W2PQ02
ENSG00000121897ENST00000638451A0A1W2PQE9
ENSG00000121897ENST00000638816A0A1W2PR81
ENSG00000121897ENST00000638837A0A1W2PR40
ENSG00000121897ENST00000639422A0A1W2PQS9
ENSG00000121897ENST00000640349A0A1W2PPM2
ENSG00000121897ENST00000640489A0A1W2PRD2
ENSG00000121897ENST00000640672A0A1W2PRE7
ENSG00000121897ENST00000640689A0A1W2PQ87
ENSG00000121897ENST00000640888O43766
ENSG00000121897ENST00000640888A0A024R9W0

Expression (GTEx)

0
1
2
3
4
5
6
7
8
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
Lipoic acid metabolismKEGGko00785
Lipoic acid metabolismKEGGhsa00785
Metabolic pathwaysKEGGhsa01100
MetabolismREACTOMER-HSA-1430728
Metabolism of amino acids and derivativesREACTOMER-HSA-71291
Glyoxylate metabolism and glycine degradationREACTOMER-HSA-389661

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
243342902014Variant non ketotic hyperglycinemia is caused by mutations in LIAS, BOLA3 and the novel gene GLRX5.50
221526802011Lipoic acid synthetase deficiency causes neonatal-onset epilepsy, defective mitochondrial energy metabolism, and glycine elevation.28
279237732016Mitochondrial Protein Lipoylation and the 2-Oxoglutarate Dehydrogenase Complex Controls HIF1α Stability in Aerobic Conditions.27
208776242010Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.17
190749832009Lipoic acid synthase (LASY): a novel role in inflammation, mitochondrial function, and insulin resistance.10
261081462015Novel compound heterozygous LIAS mutations cause glycine encephalopathy.4
277178432017Homology modeling of Homo sapiens lipoic acid synthase: Substrate docking and insights on its binding mode.1

Citation

Dessen P

LIAS (lipoic acid synthetase)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/65259/lias