InnateDB Protein
|
IDBP-92050.6
|
Last Modified
|
2014-10-13 [Report errors or provide feedback]
|
Gene Symbol
|
ALDH4A1
|
Protein Name
|
aldehyde dehydrogenase 4 family, member A1
|
Synonyms
|
ALDH4; P5CD; P5CDh;
|
Species
|
Homo sapiens
|
Ensembl Protein
|
ENSP00000290597
|
InnateDB Gene
|
IDBG-92044 (ALDH4A1)
|
Protein Structure
|
|
Function |
Irreversible conversion of delta-1-pyrroline-5- carboxylate (P5C), derived either from proline or ornithine, to glutamate. This is a necessary step in the pathway interconnecting the urea and tricarboxylic acid cycles. The preferred substrate is glutamic gamma-semialdehyde, other substrates include succinic, glutaric and adipic semialdehydes. {ECO:0000269PubMed:22516612}.
|
Subcellular Localization |
Mitochondrion matrix.
|
Disease Associations |
Hyperprolinemia 2 (HP-2) [MIM:239510]: Characterized by the accumulation of delta-1-pyrroline-5-carboxylate (P5C) and proline. The disorder may be causally related to neurologic manifestations, including seizures and mental retardation. {ECO:0000269PubMed:9700195}. Note=The disease is caused by mutations affecting the gene represented in this entry.
|
Tissue Specificity |
Highest expression is found in liver followed by skeletal muscle, kidney, heart, brain, placenta, lung and pancreas.
|
Comments |
|
Number of Interactions
|
This gene and/or its encoded proteins are associated with 6 experimentally validated interaction(s) in this database.
Experimentally validated |
Total |
6
[view]
|
Protein-Protein |
6
[view]
|
Protein-DNA |
0
|
Protein-RNA |
0
|
DNA-DNA |
0
|
RNA-RNA |
0
|
DNA-RNA |
0
|
|
|
|
Molecular Function |
|
Biological Process |
|
Cellular Component |
|
PDB ID |
|
InterPro |
IPR005931
Delta-1-pyrroline-5-carboxylate dehydrogenase
IPR015590
Aldehyde dehydrogenase domain
IPR016161
Aldehyde/histidinol dehydrogenase
|
PFAM |
PF00171
|
PRINTS |
|
PIRSF |
|
SMART |
|
TIGRFAMs |
|
Modification |
|
SwissProt |
P30038
|
PhosphoSite |
PhosphoSite-P30038
|
TrEMBL |
A0A024RAD8
|
UniProt Splice Variant |
|
Entrez Gene |
8659
|
UniGene |
Hs.77448
|
RefSeq |
NP_733844
|
HUGO |
HGNC:406
|
OMIM |
606811
|
CCDS |
CCDS188
|
HPRD |
06009
|
IMGT |
|
EMBL |
AK222486
AK289972
AK294552
AL080251
AL954340
BC007581
BC023600
BX537160
CH471134
FJ462711
U24266
U24267
|
GenPept |
AAC50500
AAC50501
AAH07581
AAH23600
ACN89883
BAD96206
BAF82661
BAG57755
CAI23417
CAI39493
EAW94858
EAW94859
EAW94860
|
|
|