ACO1 (aconitase 1)

2007-07-01  

Identity

HGNC
ACO1
LOCATION
9p21.1
LOCUSID
48
ALIAS
ACONS,HEL60,IREB1,IREBP,IREBP1,IRP1
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 48
MIM: 100880
HGNC: 117
Ensembl: ENSG00000122729

Variants:

dbSNP: 48
ClinVar: 48
TCGA: ENSG00000122729
COSMIC: ACO1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000122729ENST00000309951P21399
ENSG00000122729ENST00000309951V9HWB7
ENSG00000122729ENST00000379923P21399
ENSG00000122729ENST00000379923V9HWB7
ENSG00000122729ENST00000541043P21399
ENSG00000122729ENST00000541043V9HWB7

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

Pathways

PathwaySourceExternal ID
Citrate cycle (TCA cycle)KEGGko00020
Glyoxylate and dicarboxylate metabolismKEGGko00630
Citrate cycle (TCA cycle)KEGGhsa00020
Glyoxylate and dicarboxylate metabolismKEGGhsa00630
Metabolic pathwaysKEGGhsa01100
Citrate cycle, first carbon oxidation, oxaloacetate => 2-oxoglutarateKEGGhsa_M00010
Citrate cycle (TCA cycle, Krebs cycle)KEGGM00009
Citrate cycle, first carbon oxidation, oxaloacetate => 2-oxoglutarateKEGGM00010
2-Oxocarboxylic acid metabolismKEGGhsa01210
2-Oxocarboxylic acid metabolismKEGGko01210
Biosynthesis of amino acidsKEGGhsa01230
Biosynthesis of amino acidsKEGGko01230
Carbon metabolismKEGGhsa01200
Carbon metabolismKEGGko01200
Citrate cycle (TCA cycle, Krebs cycle)KEGGhsa_M00009

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
205587352010Selective translational control of the Alzheimer amyloid precursor protein transcript by iron regulatory protein-1.59
164070722006Crystal structure of human iron regulatory protein 1 as cytosolic aconitase.49
286154392017Biogenesis and functions of mammalian iron-sulfur proteins in the regulation of iron homeostasis and pivotal metabolic pathways.39
164249012006Iron-responsive degradation of iron-regulatory protein 1 does not require the Fe-S cluster.37
236154482013Crucial function of vertebrate glutaredoxin 3 (PICOT) in iron homeostasis and hemoglobin maturation.36
80417881994The bifunctional iron-responsive element binding protein/cytosolic aconitase: the role of active-site residues in ligand binding and regulation.31
176042812007Excess capacity of the iron regulatory protein system.29
171277132007Overexpression of iron regulatory protein 1 suppresses growth of tumor xenografts.24
250126502014The diabetes drug target MitoNEET governs a novel trafficking pathway to rebuild an Fe-S cluster into cytosolic aconitase/iron regulatory protein 1.21
117839422001A study of genes that may modulate the expression of hereditary hemochromatosis: transferrin receptor-1, ferroportin, ceruloplasmin, ferritin light and heavy chains, iron regulatory proteins (IRP)-1 and -2, and hepcidin.20

Citation

Dessen P

ACO1 (aconitase 1)

Atlas Genet Cytogenet Oncol Haematol. 2007-07-01

Online version: http://atlasgeneticsoncology.org/gene/47648/aco1