Gene Information
|
Gene Name
|
ALDH18A1 |
|
Gene ID
|
5832
|
|
Gene Full Name
|
aldehyde dehydrogenase 18 family member A1 |
|
Gene Alias
|
ADCL3|ARCL3A|GSAS|P5CS|PYCS|SPG9|SPG9A|SPG9B |
|
Transcripts
|
ENSG00000059573
|
|
Virus
|
HTLV1 |
|
Gene Type
|
protein-coding |
|
HPA Location Info
|
Mitochondria; 
|
|
Membrane Info
|
Disease related genes, Enzymes, Human disease related genes, Metabolic proteins, Plasma proteins, Potential drug targets, Predicted intracellular proteins |
|
Uniport_ID
|
P54886
|
|
HGNC ID
|
HGNC:9722
|
|
OMIM ID
|
138250 |
|
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] |
Target gene [ALDH18A1] related to VISs 
Integration Table: if previous studies reported that target gene was altered by virus integration events, the overlap between VISs in this literature and Cistrome factors was listed in this section
| DVID |
Chromosome |
HM |
TFBS |
CA |
Sum of Overlapped Records |
Detail |
| 6012825 |
chr10 |
21 |
0 |
0 |
21 |
View |
Target gene [ALDH18A1] related to Omics data
| Data ID |
Experiment type |
Sample number |
Platform |
|
GSE189602
|
Methylation profiling (Array) |
4 |
Infinium MethylationEPIC |
|
C GSE94732
|
Chip-seq |
24 |
Illumina NextSeq 500 (Homo sapiens);illumina Genome Analyzer IIx (Homo sapiens) |
|
GSE52244
|
Expression array |
15 |
[HuEx-1_0-st] Affymetrix Human Exon 1.0 ST Array [probe set (exon) version] |
|
GSE10789
|
Expression array |
6 |
NCI/ATC Hs-OperonV3 |
|
GSE224047
|
RNA-seq |
10 |
Illumina NextSeq 500 (Homo sapiens) |
|
GSE168557
|
Expression array |
6 |
Agilent-039494 SurePrint G3 Human GE v2 8x60K Microarray 039381 (Feature Number version) |
|
GSE136189
|
Methylation profiling (Array) |
40 |
Illumina HumanMethylation450 BeadChip (HumanMethylation450_15017482);Illumina Infinium HumanMethylation850 BeadChip |
When the gene can detect a peak in the dataset, a peak plot will be displayed.
> Dataset: GSE94732 - ALDH18A1 peak across samples
|
Peak Plot
|
|
|
HTLV1 Target gene Detail Information
