Ensembl ID
ENSG00000059573
Gene ID
5832
Accession
9722
Gene Symbol
ALDH18A1
Alias
GSAS;P5CS;PYCS;SPG9;ADCL3;SPG9A;SPG9B;ARCL3A
Full Name
aldehyde dehydrogenase 18 family member A1
Position
10 : 95605941 - 95656711
Length
50771 bases
Strand
Minus strand
Status
Confidence
Main interacting RNAs N.A. RBP type
Non-canonical_RBPs
Summary
This gene is a member of the aldehyde dehydrogenase family and encodes a bifunctional ATP- and NADPH-dependent mitochondrial enzyme with both gamma-glutamyl kinase and gamma-glutamyl phosphate reductase activities. The encoded protein catalyzes the reduction of glutamate to delta1-pyrroline-5-carboxylate, a critical step in the de novo biosynthesis of proline, ornithine and arginine. Mutations in this gene lead to hyperammonemia, hypoornithinemia, hypocitrullinemia, hypoargininemia and hypoprolinemia and may be associated with neurodegeneration, cataracts and connective tissue diseases. Alternatively spliced transcript variants, encoding different isoforms, have been described for this gene. [provided by RefSeq, Jul 2008]
ENSG00000059573 Expression In 33 Tumors
Ensembl ID
Gene symbol
Log2 Foldchange
Pvaue
Cancer
ENSG00000059573
1.03
3.28e-83
BRCA
ENSG00000059573
1.26
3.69e-77
LUSC
ENSG00000059573
1.37
9.03e-39
UCEC
ENSG00000059573
1.60
2.06e-92
LUAD
Ensembl ID
Gene symbol
Disease/phenotype
Mutation type
Mutated / Total samples
Literature
Ensembl ID
Gene symbol
Cancer
P-value
Which worse
show
ENSG00000059573
MESO
0.00024
high
show
ENSG00000059573
SARC
0.0012
high
show
ENSG00000059573
STAD
0.00095
low
show
ENSG00000059573
UVM
0.0018
low
show
ENSG00000059573
UCEC
0.00063
low
show
ENSG00000059573
LUSC
0.0075
low
show
ENSG00000059573
KIRP
4e-04
high
show
ENSG00000059573
KICH
0.033
high
show
ENSG00000059573
LUAD
0.0015
high
show
ENSG00000059573
BRCA
0.034
high
show
ENSG00000059573
COAD
0.004
high
show
ENSG00000059573
UCS
0.046
low
show
ENSG00000059573
PRAD
0.023
high
show
ENSG00000059573
GBM
0.023
low
show
ENSG00000059573
SKCM
0.031
high
show
ENSG00000059573
CESC
0.0093
high
show
ENSG00000059573
LIHC
0.0049
high
show
Ensembl ID
Gene symbol
Cancer
CNV type
-log10(q-value)
G-score
average amplitude
frequency
ENSG00000059573
LUSC
Del
1.328379
0.074770
0.361188
0.522954
ENSG00000059573
COAD
Del
8.807989
0.105864
0.404128
0.232816
ENSG00000059573
GBM
Del
0.920106
0.054789
0.694810
0.887348
ENSG00000059573
HNSC
Del
1.038641
0.058488
0.341258
0.256705
ENSG00000059573
BLCA
Del
1.808361
0.095528
0.396408
0.414216
ENSG00000059573
BRCA
Del
2.132987
0.075585
0.370367
0.287963
ENSG00000059573
STAD
Del
3.715939
0.096972
0.378301
0.240363
ENSG00000059573
PRAD
Del
5.018221
0.115307
0.446209
0.176829
ENSG00000059573
UCEC
Del
7.067655
0.102239
0.543269
0.146568
ENSG00000059573
MESO
Del
2.016736
0.177953
0.494049
0.333333
ENSG00000059573
OV
Del
11.087997
0.310023
0.554000
0.411054
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