Protein family
Protein sequence
Protein function
Publications
Catalytic activity
EC number
EC number description
1.2.1.41
Oxidoreductases;
Acting on the aldehyde or oxo group of donors;
With NAD+ or NADP+ as acceptor;
glutamate-5-semialdehyde dehydrogenase
2.7.2.11
Transferases;
Transferring phosphorus-containing groups;
Phosphotransferases with a carboxy group as acceptor;
glutamate 5-kinase
| PDB | Resolution (Å) | PDB name |
|---|---|---|
| 2H5G | 2.25 | Crystal structure of human pyrroline-5-carboxylate synthetase |
GO ontology
|
GO term | GO description |
|---|---|---|
| Biological Process | GO:0055129 | L-proline biosynthetic process |
| Biological Process | GO:0019240 | citrulline biosynthetic process |
| Biological Process | GO:0006536 | glutamate metabolic process |
| Biological Process | GO:0006592 | ornithine biosynthetic process |
| Biological Process | GO:0016310 | phosphorylation |
| Biological Process | GO:0006561 | proline biosynthetic process |
| Molecular Function | GO:0005524 | ATP binding |
| Molecular Function | GO:0003723 | RNA binding |
| Molecular Function | GO:0004349 | glutamate 5-kinase activity |
| Molecular Function | GO:0004350 | glutamate-5-semialdehyde dehydrogenase activity |
| Molecular Function | GO:0042802 | identical protein binding |
| Cellular Component | GO:0005743 | mitochondrial inner membrane |
| Cellular Component | GO:0005739 | mitochondrion |
| InterPro
|
InterPro name |
|---|---|
| IPR000965 | GPR domain |
| IPR001048 | Aspartate/glutamate/uridylate kinase |
| IPR001057 | Glutamate/acetylglutamate kinase |
| IPR005715 | Glutamate 5-kinase/delta-1-pyrroline-5-carboxylate synthase |
| IPR005766 | Delta l-pyrroline-5-carboxylate synthetase |
| IPR015590 | Aldehyde dehydrogenase domain |
| IPR016161 | Aldehyde/histidinol dehydrogenase |
| IPR016162 | Aldehyde dehydrogenase, N-terminal |
| IPR016163 | Aldehyde dehydrogenase, C-terminal |
| IPR019797 | Glutamate 5-kinase, conserved site |
| IPR020593 | Gamma-glutamyl phosphate reductase GPR, conserved site |
| IPR036393 | Acetylglutamate kinase-like superfamily |
| IPR041744 | Bifunctional delta 1-pyrroline-5-carboxylate synthetase, glutamate-5-kinase domain |
| Pfam
|
Pfam name |
|---|---|
| PF00171 | Aldehyde dehydrogenase family |
| PF00696 | Amino acid kinase family |
| Reactome
|
Reactome Name | Node type
|
Reactome Root | Reactome Root Name |
|---|---|---|---|---|
| R-HSA-8964539 | Glutamate and glutamine metabolism | Leaf | R-HSA-1430728 | Metabolism |
| Location
|
ECO term
|
Pubmed |
|---|---|---|
| Mitochondrion inner membrane | ECO:0000269 | PubMed:26297558 |
| Mitochondrion inner membrane | ECO:0000269 | PubMed:26320891 |
| HPO ID
|
HPO name |
|---|---|
| HP:0007522 | Increased number of skin folds |
| HP:0000012 | Urinary urgency |
| HP:0025167 | Fragmented elastic fibers in the dermis |
| HP:0000729 | Autistic behavior |
| HP:0000122 | Unilateral renal agenesis |
| HP:0011968 | Feeding difficulties |
| HP:0003202 | Skeletal muscle atrophy |
| HP:0001510 | Growth delay |
| HP:0002395 | Lower limb hyperreflexia |
| HP:0001987 | Hyperammonemia |
| HP:0500139 | Hypoprolinemia |
| HP:0002750 | Delayed skeletal maturation |
| HP:0004942 | Aortic aneurysm |
| HP:0002020 | Gastroesophageal reflux |
| HP:0001328 | Specific learning disability |
| HP:0005961 | Hypoargininemia |
| HP:0001260 | Dysarthria |
| HP:0000023 | Inguinal hernia |
| HP:0001374 | Congenital hip dislocation |
| HP:0100678 | Premature skin wrinkling |
| HP:0011220 | Prominent forehead |
| HP:0002493 | Upper motor neuron dysfunction |
| HP:0001537 | Umbilical hernia |
| HP:0002495 | Impaired vibratory sensation |
| HP:0007957 | Corneal opacity |
| HP:0011462 | Young adult onset |
| HP:0001388 | Joint laxity |
| HP:0001263 | Global developmental delay |
| HP:0002344 | Progressive neurologic deterioration |
| HP:0008897 | Postnatal growth retardation |
| HP:0002322 | Resting tremor |
| HP:0002518 | Abnormal periventricular white matter morphology |
| HP:0011950 | Bronchiolitis |
| HP:0000028 | Cryptorchidism |
| HP:0031993 | Hoffmann sign |
| HP:0007495 | Prematurely aged appearance |
| HP:0000016 | Urinary retention |
| HP:0010832 | Abnormality of pain sensation |
| HP:0002120 | Cerebral cortical atrophy |
| HP:0001258 | Spastic paraplegia |
| HP:0000411 | Protruding ear |
| HP:0000767 | Pectus excavatum |
| HP:0001337 | Tremor |
| HP:0002751 | Kyphoscoliosis |
| HP:0001763 | Pes planus |
| HP:0000325 | Triangular face |
| HP:0001498 | Carpal bone hypoplasia |
| HP:0001659 | Aortic regurgitation |
| HP:0001084 | Corneal arcus |
| HP:0000486 | Strabismus |
| HP:0002445 | Tetraplegia |
| HP:0001249 | Intellectual disability |
| HP:0006827 | Atrophy of the spinal cord |
| HP:0001288 | Gait disturbance |
| HP:0007083 | Hyperactive patellar reflex |
| HP:0002460 | Distal muscle weakness |
| HP:0003593 | Infantile onset |
| HP:0030051 | Tip-toe gait |
| HP:0002371 | Loss of speech |
| HP:0000974 | Hyperextensible skin |
| HP:0001653 | Mitral regurgitation |
| HP:0002816 | Genu recurvatum |
| HP:0001761 | Pes cavus |
| HP:0000518 | Cataract |
| HP:0001508 | Failure to thrive |
| HP:0002064 | Spastic gait |
| HP:0000252 | Microcephaly |
| HP:0000938 | Osteopenia |
| HP:0010674 | Abnormal curvature of the vertebral column |
| HP:0002476 | Primitive reflex |
| HP:0009027 | Foot dorsiflexor weakness |
| HP:0000006 | Autosomal dominant inheritance |
| HP:0007299 | Dysfunction of lateral corticospinal tracts |
| HP:0003477 | Peripheral axonal neuropathy |
| HP:0003676 | Progressive |
| HP:0000248 | Brachycephaly |
| HP:0001635 | Congestive heart failure |
| HP:0000020 | Urinary incontinence |
| HP:0011397 | Abnormality of the dorsal column of the spinal cord |
| HP:0003577 | Congenital onset |
| HP:0001324 | Muscle weakness |
| HP:0002464 | Spastic dysarthria |
| HP:0500163 | Hypoornithinemia |
| HP:0007350 | Hyperreflexia in upper limbs |
| HP:0000508 | Ptosis |
| HP:0001257 | Spasticity |
| HP:0001999 | Abnormal facial shape |
| HP:0001348 | Brisk reflexes |
| HP:0031064 | Impaired continence |
| HP:0005692 | Joint hyperflexibility |
| HP:0004938 | Tortuous cerebral arteries |
| HP:0001884 | Talipes calcaneovalgus |
| HP:0000007 | Autosomal recessive inheritance |
| HP:0007394 | Prominent superficial blood vessels |
| HP:0100857 | Flat sella turcica |
| HP:0002527 | Falls |
| HP:0002342 | Intellectual disability, moderate |
| HP:0000973 | Cutis laxa |
| HP:0003438 | Absent Achilles reflex |
| HP:0001252 | Hypotonia |
| HP:0002127 | Abnormal upper motor neuron morphology |
| HP:0002066 | Gait ataxia |
| HP:0001382 | Joint hypermobility |
| HP:0003677 | Slowly progressive |
| HP:0010648 | Dermal translucency |
| HP:0002256 | Small bowel diverticula |
| HP:0002007 | Frontal bossing |
| HP:0002500 | Abnormal cerebral white matter morphology |
| HP:0000407 | Sensorineural hearing impairment |
| HP:0001680 | Coarctation of aorta |
| HP:0100515 | Pollakisuria |
| HP:0002677 | Small foramen magnum |
| HP:0001317 | Abnormal cerebellum morphology |
| HP:0006698 | Dilatation of the ventricular cavity |
| HP:0002110 | Bronchiectasis |
| HP:0005667 | Os odontoideum |
| HP:0001270 | Motor delay |
| HP:0001181 | Adducted thumb |
| HP:0000666 | Horizontal nystagmus |
| HP:0002987 | Elbow flexion contracture |
| HP:0000270 | Delayed cranial suture closure |
| HP:0100512 | Low levels of vitamin D |
| HP:0000519 | Developmental cataract |
| HP:0007371 | Corpus callosum atrophy |
| HP:0002425 | Anarthria |
| HP:0004322 | Short stature |
| HP:0003487 | Babinski sign |
| HP:0003700 | Generalized amyotrophy |
| HP:0003394 | Muscle spasm |
| HP:0001250 | Seizure |
| HP:0000369 | Low-set ears |
| HP:0001511 | Intrauterine growth retardation |
| HP:0000015 | Bladder diverticulum |
| HP:0006886 | Impaired distal vibration sensation |
| HP:0003693 | Distal amyotrophy |
| HP:0002280 | Enlarged cisterna magna |
| HP:0005989 | Redundant neck skin |
| HP:0006895 | Lower limb hypertonia |
| HP:0002061 | Lower limb spasticity |
| HP:0001762 | Talipes equinovarus |
| HP:0000160 | Narrow mouth |
| HP:0000963 | Thin skin |
| HP:0012330 | Pyelonephritis |
| HP:0100790 | Hernia |
| HP:0002572 | Episodic vomiting |
| HP:0001582 | Redundant skin |
| HP:0007024 | Pseudobulbar paralysis |
| HP:0002305 | Athetosis |
| HP:0002166 | Impaired vibration sensation in the lower limbs |
| HP:0002645 | Wormian bones |
| HP:0000418 | Narrow nasal ridge |
| HP:0004969 | Peripheral pulmonary artery stenosis |
| HP:0002827 | Hip dislocation |
| HP:0000750 | Delayed speech and language development |
| HP:0000639 | Nystagmus |
| HP:0002097 | Emphysema |
| HP:0004373 | Focal dystonia |
| HP:0000400 | Macrotia |
| HP:0012514 | Lower limb pain |
| HP:0002174 | Postural tremor |
| HP:0002036 | Hiatus hernia |
| HP:0000726 | Dementia |
| HP:0003572 | Low plasma citrulline |
| HP:0003621 | Juvenile onset |
| HP:0000545 | Myopia |
| HP:0000337 | Broad forehead |
| HP:0007178 | Motor polyneuropathy |
| HP:0002650 | Scoliosis |
| HP:0008070 | Sparse hair |
| HP:0006938 | Impaired vibration sensation at ankles |
| HP:0002505 | Loss of ambulation |
| HP:0003745 | Sporadic |
| HP:0007240 | Progressive gait ataxia |
| HP:0003419 | Low back pain |
| HP:0010537 | Wide cranial sutures |
| HP:0007256 | Abnormal pyramidal sign |
| HP:0002644 | Abnormal pelvic girdle bone morphology |
| HP:0001347 | Hyperreflexia |
| HP:0000239 | Large fontanelles |
| HP:0002013 | Vomiting |
| HP:0000601 | Hypotelorism |
| HP:0000709 | Psychosis |
| HP:0002354 | Memory impairment |
| HP:0001344 | Absent speech |
| HP:0002172 | Postural instability |
| HP:0000316 | Hypertelorism |
| Tissue
|
Cell type
|
Expression level | Reliability |
|---|---|---|---|
| adrenal gland | glandular cells | Medium | Approved |
| appendix | glandular cells | High | Approved |
| bone marrow | hematopoietic cells | Medium | Approved |
| bronchus | ciliated cells (cell body) | Medium | Approved |
| caudate | glial cells | Low | Approved |
| caudate | neuronal cells | Low | Approved |
| cerebellum | Purkinje cells | Low | Approved |
| cerebellum | cells in granular layer | Low | Approved |
| cerebellum | cells in molecular layer | Low | Approved |
| cerebral cortex | neuronal cells | Low | Approved |
| cervix | glandular cells | Low | Approved |
| colon | glandular cells | High | Approved |
| colon | peripheral nerve/ganglion | Low | Approved |
| duodenum | glandular cells | Medium | Approved |
| endometrium 2 | glandular cells | Medium | Approved |
| epididymis | glandular cells | Medium | Approved |
| fallopian tube | ciliated cells (cell body) | Low | Approved |
| gallbladder | glandular cells | High | Approved |
| heart muscle | cardiomyocytes | Medium | Approved |
| hippocampus | glial cells | Low | Approved |
| hippocampus | neuronal cells | Low | Approved |
| kidney | cells in tubules | Low | Approved |
| lung | macrophages | Low | Approved |
| lymph node | germinal center cells | Medium | Approved |
| lymph node | non-germinal center cells | Low | Approved |
| nasopharynx | ciliated cells (cell body) | High | Approved |
| pancreas | pancreatic endocrine cells | Medium | Approved |
| parathyroid gland | glandular cells | Medium | Approved |
| placenta | decidual cells | Medium | Approved |
| placenta | trophoblastic cells | Medium | Approved |
| prostate | glandular cells | Low | Approved |
| rectum | glandular cells | Medium | Approved |
| salivary gland | glandular cells | Low | Approved |
| seminal vesicle | glandular cells | Medium | Approved |
| skeletal muscle | myocytes | Medium | Approved |
| skin 1 | melanocytes | Low | Approved |
| small intestine | glandular cells | Medium | Approved |
| smooth muscle | smooth muscle cells | Low | Approved |
| spleen | cells in red pulp | Low | Approved |
| stomach 1 | glandular cells | Medium | Approved |
| stomach 2 | glandular cells | Medium | Approved |
| testis | preleptotene spermatocytes | Medium | Approved |
| testis | round or early spermatids | Medium | Approved |
| testis | spermatogonia cells | High | Approved |
| thyroid gland | glandular cells | Medium | Approved |
| tonsil | germinal center cells | Medium | Approved |
| tonsil | non-germinal center cells | Low | Approved |
| urinary bladder | urothelial cells | Low | Approved |
| Disease name | MONDO ID
|
ICD10
|
ICD10 chapter
|
OMIM
|
Orphanet
|
|---|---|---|---|---|---|
| aldh18a1-related de barsy syndrome | MONDO:0009053 | Q82 | chapter17, Congenital malformations, deformations and chromosomal abnormalities | OMIM:219150 | Orphanet:35664 |
| aldh18a1-related de barsy syndrome | MONDO:0009053 | Q87 | chapter17, Congenital malformations, deformations and chromosomal abnormalities | OMIM:219150 | Orphanet:35664 |
| hereditary spastic paraplegia 9a | MONDO:0011006 | G11 | chapter6, Diseases of the nervous system | OMIM:601162 | Orphanet:447753 |
| autosomal recessive complex spastic paraplegia type 9b | MONDO:0014702 | G11 | chapter6, Diseases of the nervous system | OMIM:616586 | Orphanet:447760 |
| cutis laxa, autosomal dominant 3 | MONDO:0014706 | Q82 | chapter17, Congenital malformations, deformations and chromosomal abnormalities | OMIM:616603 | |
| autosomal dominant complex spastic paraplegia type 9b | MONDO:0018644 | G11 | chapter6, Diseases of the nervous system | Orphanet:447757 |