AASDHPPT (aminoadipate-semialdehyde dehydrogenase-phosphopantetheinyl transferase)

2014-11-01  

Identity

HGNC
LOCATION
11q22.3
LOCUSID
ALIAS
AASD-PPT,ACPS,CGI-80,LYS2,LYS5
FUSION GENES

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

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

References

Pubmed IDYearTitleCitations
128150482003Cloning, expression, and characterization of a human 4'-phosphopantetheinyl transferase with broad substrate specificity.26
199332752010Acyl carrier protein-specific 4'-phosphopantetheinyl transferase activates 10-formyltetrahydrofolate dehydrogenase.11

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