AASDHPPT (aminoadipate-semialdehyde dehydrogenase-phosphopantetheinyl transferase)

2014-11-01  

Identity

HGNC
AASDHPPT
LOCATION
11q22.3
LOCUSID
60496
ALIAS
AASD-PPT,ACPS,CGI-80,LYS2,LYS5
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 60496
MIM: 607756
HGNC: 14235
Ensembl: ENSG00000149313

Variants:

dbSNP: 60496
ClinVar: 60496
TCGA: ENSG00000149313
COSMIC: AASDHPPT

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000149313ENST00000278618Q9NRN7
ENSG00000149313ENST00000524411E9PLW6
ENSG00000149313ENST00000525660Q9NRN7
ENSG00000149313ENST00000533423E9PNF3

Expression (GTEx)

0
10
20
30
40
50
60
70
80
90
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
Pantothenate and CoA biosynthesisKEGGko00770
Pantothenate and CoA biosynthesisKEGGhsa00770
MetabolismREACTOMER-HSA-1430728
Metabolism of vitamins and cofactorsREACTOMER-HSA-196854
Metabolism of water-soluble vitamins and cofactorsREACTOMER-HSA-196849
Vitamin B5 (pantothenate) metabolismREACTOMER-HSA-199220

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
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
199332752010Acyl carrier protein-specific 4'-phosphopantetheinyl transferase activates 10-formyltetrahydrofolate dehydrogenase.14
199332752010Acyl carrier protein-specific 4'-phosphopantetheinyl transferase activates 10-formyltetrahydrofolate dehydrogenase.14
128150482003Cloning, expression, and characterization of a human 4'-phosphopantetheinyl transferase with broad substrate specificity.32
128150482003Cloning, expression, and characterization of a human 4'-phosphopantetheinyl transferase with broad substrate specificity.32

Citation

Dessen P

AASDHPPT (aminoadipate-semialdehyde dehydrogenase-phosphopantetheinyl transferase)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/60022/aasdhppt-(aminoadipate-semialdehyde-dehydrogenase-phosphopantetheinyl-transferase)