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
ALDH18A1
1.03
3.28e-83
BRCA
ENSG00000059573
ALDH18A1
1.26
3.69e-77
LUSC
ENSG00000059573
ALDH18A1
1.37
9.03e-39
UCEC
ENSG00000059573
ALDH18A1
1.60
2.06e-92
LUAD
Ensembl ID
Gene symbol
Cancer types
Pubmed ID
ENSG00000059573
ALDH18A1
colorectal cancer
18401542
ENSG00000059573
ALDH18A1
tumors
22136381
ENSG00000059573
ALDH18A1
tumor
25881247
ENSG00000059573
ALDH18A1
tumor
26082174
ENSG00000059573
ALDH18A1
Cancer
27511626
ENSG00000059573
ALDH18A1
COAD
29116024
ENSG00000059573
ALDH18A1
tumours
29169183
ENSG00000059573
ALDH18A1
tumors
31088535
ENSG00000059573
ALDH18A1
tumor
31592410
ENSG00000059573
ALDH18A1
liver cancer
31726117
Ensembl ID
Gene symbol
Disease/phenotype
Mutation type
Mutated / Total samples
Literature
Ensembl ID
Gene symbol
Cancer
P-value
Which worse
show
ENSG00000059573
ALDH18A1
MESO
0.00024
high
show
ENSG00000059573
ALDH18A1
SARC
0.0012
high
show
ENSG00000059573
ALDH18A1
STAD
0.00095
low
show
ENSG00000059573
ALDH18A1
UVM
0.0018
low
show
ENSG00000059573
ALDH18A1
UCEC
0.00063
low
show
ENSG00000059573
ALDH18A1
LUSC
0.0075
low
show
ENSG00000059573
ALDH18A1
KIRP
4e-04
high
show
ENSG00000059573
ALDH18A1
KICH
0.033
high
show
ENSG00000059573
ALDH18A1
LUAD
0.0015
high
show
ENSG00000059573
ALDH18A1
BRCA
0.034
high
show
ENSG00000059573
ALDH18A1
COAD
0.004
high
show
ENSG00000059573
ALDH18A1
UCS
0.046
low
show
ENSG00000059573
ALDH18A1
PRAD
0.023
high
show
ENSG00000059573
ALDH18A1
GBM
0.023
low
show
ENSG00000059573
ALDH18A1
SKCM
0.031
high
show
ENSG00000059573
ALDH18A1
CESC
0.0093
high
show
ENSG00000059573
ALDH18A1
LIHC
0.0049
high
show
Ensembl ID
Gene symbol
Cancer
CNV type
-log10(q-value)
G-score
average amplitude
frequency
ENSG00000059573
ALDH18A1
LUSC
Del
1.328379
0.074770
0.361188
0.522954
ENSG00000059573
ALDH18A1
COAD
Del
8.807989
0.105864
0.404128
0.232816
ENSG00000059573
ALDH18A1
GBM
Del
0.920106
0.054789
0.694810
0.887348
ENSG00000059573
ALDH18A1
HNSC
Del
1.038641
0.058488
0.341258
0.256705
ENSG00000059573
ALDH18A1
BLCA
Del
1.808361
0.095528
0.396408
0.414216
ENSG00000059573
ALDH18A1
BRCA
Del
2.132987
0.075585
0.370367
0.287963
ENSG00000059573
ALDH18A1
STAD
Del
3.715939
0.096972
0.378301
0.240363
ENSG00000059573
ALDH18A1
PRAD
Del
5.018221
0.115307
0.446209
0.176829
ENSG00000059573
ALDH18A1
UCEC
Del
7.067655
0.102239
0.543269
0.146568
ENSG00000059573
ALDH18A1
MESO
Del
2.016736
0.177953
0.494049
0.333333
ENSG00000059573
ALDH18A1
OV
Del
11.087997
0.310023
0.554000
0.411054
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