ALDH18A1 - aldehyde dehydrogenase 18 family member A1 Gene
Also Known as GSAS; P5CS; PYCS; SPG9; ADCL3; SPG9A; SPG9B; ARCL3A
Species: Homo sapiens
About ALDH18A1
This gene has 5 transcripts (splice variants), 261 orthologues and is associated with 14 phenotypes. Ubiquitous expression in duodenum (RPKM 41.4), small intestine (RPKM 34.7) and 25 other tissues.
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]
ALDH18A1 Products (10)
| mRNA | Protein | Name |
|---|---|---|
| NM_001017423.2 | NP_001017423.1 | delta-1-pyrroline-5-carboxylate synthase isoform 2 |
| NM_001323412.2 | NP_001310341.1 | delta-1-pyrroline-5-carboxylate synthase isoform 3 |
| NM_001323413.2 | NP_001310342.1 | delta-1-pyrroline-5-carboxylate synthase isoform 1 |
| NM_001323414.2 | NP_001310343.1 | delta-1-pyrroline-5-carboxylate synthase isoform 1 |
| NM_001323415.2 | NP_001310344.1 | delta-1-pyrroline-5-carboxylate synthase isoform 2 |
| NM_001323416.2 | NP_001310345.1 | delta-1-pyrroline-5-carboxylate synthase isoform 3 |
| NM_001323417.2 | NP_001310346.1 | delta-1-pyrroline-5-carboxylate synthase isoform 4 |
| NM_001323418.2 | NP_001310347.1 | delta-1-pyrroline-5-carboxylate synthase isoform 5 |
| NM_001323419.2 | NP_001310348.1 | delta-1-pyrroline-5-carboxylate synthase isoform 6 |
| NM_002860.4 | NP_002851.2 | delta-1-pyrroline-5-carboxylate synthase isoform 1 |
| Molecular Function GO Annotation | Evidence | References | Source |
|---|---|---|---|
| enables glutamate 5-kinase activity |
IDA
IDA: Inferred from direct assay
|
11092761 | GOA |
| enables glutamate 5-kinase activity |
IMP
IMP: Inferred from mutant phenotype
|
26297558 | GOA |
| enables glutamate-5-semialdehyde dehydrogenase activity |
IDA
IDA: Inferred from direct assay
|
11092761 | GOA |
| enables glutamate-5-semialdehyde dehydrogenase activity |
IMP
IMP: Inferred from mutant phenotype
|
26297558 | GOA |
| enables identical protein binding |
IDA
IDA: Inferred from direct assay
|
26297558 | GOA |
| enables protein binding |
IPI
IPI: Inferred from physical interaction
|
25416956 | GOA |
| Biological Process GO Annotation | Evidence | References | Source |
|---|---|---|---|
| involved in citrulline biosynthetic process |
IMP
IMP: Inferred from mutant phenotype
|
11092761 | GOA |
| involved in glutamate metabolic process |
IMP
IMP: Inferred from mutant phenotype
|
11092761 | GOA |
| involved in ornithine biosynthetic process |
IMP
IMP: Inferred from mutant phenotype
|
11092761 | GOA |
| involved in proline biosynthetic process |
IMP
IMP: Inferred from mutant phenotype
|
11092761 | GOA |
| Cellular Component GO Annotation | Evidence | References | Source |
|---|---|---|---|
| located in mitochondrion |
IDA
IDA: Inferred from direct assay
|
26297558 | GOA |
ALDH18A1 Protein Structure
AA_kinase: Amino acid kinase family (71 - 329)
Aldedh: Aldehyde dehydrogenase family (368 - 627)
- 0
- 200
- 400
- 600
- 795 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
delta-1-pyrroline-5-carboxylate synthase |
|
ALDH18A1 Protein-protein interaction Information
|
Type
|
Protein Name | Protein ID | Interactor | Interactor Species | Interactor ID | Detection Method | References |
|---|---|---|---|---|---|---|---|
|
Intra
|
ALDH18A1 | P54886 | CMTM5 | Homo sapiens | Q96DZ9 | 25416956 | |
|
Intra
|
ALDH18A1 | P54886 | DARS2 | Homo sapiens | Q6PI48 | 32296183 | |
|
Intra
|
ALDH18A1 | P54886 | DARS2 | Homo sapiens | Q6PI48 | 32296183 | |
|
Intra
|
ALDH18A1 | P54886 | DARS2 | Homo sapiens | Q6PI48 | 32296183 | |
|
Intra
|
ALDH18A1 | P54886 | COQ9 | Homo sapiens | O75208 | 32296183 | |
|
Intra
|
ALDH18A1 | P54886 | COQ9 | Homo sapiens | O75208 | 32296183 | |
|
Intra
|
ALDH18A1 | P54886 | AGTRAP | Homo sapiens | Q6RW13 | 25416956 | |
|
Intra
|
ALDH18A1 | P54886 | AGTRAP | Homo sapiens | Q6RW13 | 25416956 |
ALDH18A1 Antibodies
| Cat. No. | 상품명 | 신청 | Reactivity |
|---|---|---|---|
| HY-P811163 | P5CS Antibody | WB, ICC/IF | Human, Mouse |
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Spastic Paraplegia 9a, Autosomal Dominant |
|
|
| Spastic Paraplegia 9b, Autosomal Recessive |
|
|
| Cutis Laxa, Autosomal Recessive, Type Iiia |
|
|
| Cutis Laxa, Autosomal Dominant 3 |
|
|
| Autosomal Recessive Cutis Laxa Type Iii |
|
|
| Spastic Paraplegia 9 |
|
|
| Autosomal Dominant Spastic Paraplegia Type 9b |
|
|
| Cutis Laxa, Autosomal Dominant 1 |
|
|
| Spastic Paraplegia 5a, Autosomal Recessive |
|
|
| Cutis Laxa |
|
|
| Hereditary Spastic Paraplegia |
|
|
| Paraplegia |
|
|
| Gastroesophageal Reflux |
|
|
| Cutis Laxa, Autosomal Recessive, Type Iiib |
|
|
| Spastic Paraparesis |
|
|
| Congenital Nervous System Abnormality |
|
|
| Cutis Laxa, Autosomal Recessive, Type Iib |
|
|
| Spastic Paraplegia 19, Autosomal Dominant |
|
|
| Nervous System Disease |
|
|
| Cutis Laxa, Autosomal Recessive, Type Iid |
|
|
| Hyperprolinemia |
|
|
| Spastic Paraplegia 34, X-Linked |
|
|
| Spastic Paraplegia 14, Autosomal Recessive |
|
|
| Mend Syndrome |
|
|
| Cutis Laxa, Autosomal Recessive, Type Iia |
|
|
| Cataract |
|
|
| Spastic Paraplegia 36, Autosomal Dominant |
|
|
| Gamma-Amino Butyric Acid Metabolism Disorder |
|
|
| Geroderma Osteodysplasticum |
|
|
| Autosomal Recessive Cutis Laxa Type Ii Classic Type |
|
|
| Succinic Semialdehyde Dehydrogenase Deficiency |
|
|
| Leukodystrophy, Hypomyelinating, 10 |
|
|
| Hyperprolinemia, Type Ii |
|
|
| Cutis Laxa, Autosomal Recessive, Type Ia |
|
|
| Cutis Laxa, Autosomal Recessive, Type Ib |
|
|
| Cutis Laxa, Autosomal Recessive, Type Ic |
|
|
| Wrinkly Skin Syndrome |
|
|
| Autosomal Recessive Cutis Laxa Type I |
|
|
| Immunodeficiency 47 |
|
|
| Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome |
|
|
| Spastic Paraplegia 64, Autosomal Recessive |
|
|
| Spastic Paraplegia 8, Autosomal Dominant |
|
|
| Occipital Horn Syndrome |
|
|
| Argininemia |
|
|
| Epilepsy, Pyridoxine-Dependent |
|
|
| Gyrate Atrophy Of Choroid And Retina |
|
|
| Spastic Paraplegia 10, Autosomal Dominant |
|
|
Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Macaca mulatta | ALDH18A1 | VGNC | VGNC:69821 |
| Mus musculus | ALDH18A1 | MGD | MGI:1888908 |
| Canis familiaris | ALDH18A1 | VGNC | VGNC:37781 |
| Bos taurus | ALDH18A1 | VGNC | VGNC:25807 |
| Felis catus | ALDH18A1 | VGNC | VGNC:69191 |
| Rattus norvegicus | ALDH18A1 | RGD | RGD:1311431 |
| Others | ALDH18A1 | NCBI |