ASS1 (argininosuccinate synthase 1)

2007-02-01  

Identity

HGNC
ASS1
LOCATION
9q34.11
LOCUSID
445
ALIAS
ASS,CTLN1
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 445
MIM: 603470
HGNC: 758
Ensembl: ENSG00000130707

Variants:

dbSNP: 445
ClinVar: 445
TCGA: ENSG00000130707
COSMIC: ASS1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000130707ENST00000352480P00966
ENSG00000130707ENST00000352480Q5T6L4
ENSG00000130707ENST00000372393P00966
ENSG00000130707ENST00000372393Q5T6L4
ENSG00000130707ENST00000372394P00966
ENSG00000130707ENST00000372394Q5T6L4
ENSG00000130707ENST00000422569Q5T6L6
ENSG00000130707ENST00000443588Q5T6L5

Expression (GTEx)

0
100
200
300
400
500
600
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
Arginine biosynthesisKEGGko00220
Arginine biosynthesisKEGGhsa00220
Alanine, aspartate and glutamate metabolismKEGGko00250
Alanine, aspartate and glutamate metabolismKEGGhsa00250
Metabolic pathwaysKEGGhsa01100
Urea cycleKEGGhsa_M00029
Urea cycleKEGGM00029
Biosynthesis of amino acidsKEGGhsa01230
Biosynthesis of amino acidsKEGGko01230
MetabolismREACTOMER-HSA-1430728
Metabolism of amino acids and derivativesREACTOMER-HSA-71291
Urea cycleREACTOMER-HSA-70635
Metabolism of polyaminesREACTOMER-HSA-351202
Fluid shear stress and atherosclerosisKEGGko05418
Fluid shear stress and atherosclerosisKEGGhsa05418

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

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA166114316sodium phenylbutyrateChemicalLabelAnnotationassociated
PA166176020sodium benzoate / sodium phenylacetateChemicalLabelAnnotationassociated

References

Pubmed IDYearTitleCitations
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.85
265600302015Diversion of aspartate in ASS1-deficient tumours fosters de novo pyrimidine synthesis.67
170963302007Renal cell carcinoma does not express argininosuccinate synthetase and is highly sensitive to arginine deprivation via arginine deiminase.47
199342752009Resistance to arginine deiminase treatment in melanoma cells is associated with induced argininosuccinate synthetase expression involving c-Myc/HIF-1alpha/Sp4.46
195337502009Epigenetic silencing of argininosuccinate synthetase confers resistance to platinum-induced cell death but collateral sensitivity to arginine auxotrophy in ovarian cancer.42
201599902010Reduced argininosuccinate synthetase is a predictive biomarker for the development of pulmonary metastasis in patients with osteosarcoma.40
246925922014Arginine starvation impairs mitochondrial respiratory function in ASS1-deficient breast cancer cells.35
190062412009Mutations and polymorphisms in the human argininosuccinate synthetase (ASS1) gene.30
235498722013ASS1 as a novel tumor suppressor gene in myxofibrosarcomas: aberrant loss via epigenetic DNA methylation confers aggressive phenotypes, negative prognostic impact, and therapeutic relevance.30
275845782017Arginine Deprivation With Pegylated Arginine Deiminase in Patients With Argininosuccinate Synthetase 1-Deficient Malignant Pleural Mesothelioma: A Randomized Clinical Trial.28

Citation

Dessen P

ASS1 (argininosuccinate synthase 1)

Atlas Genet Cytogenet Oncol Haematol. 2007-02-01

Online version: http://atlasgeneticsoncology.org/gene/46363/ass1