ENSG00000059573


Homo sapiens

Features
Gene ID: ENSG00000059573
  
Biological name :ALDH18A1
  
Synonyms : aldehyde dehydrogenase 18 family member A1 / ALDH18A1 / P54886
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 10
Strand: -1
Band: q24.1
Gene start: 95605929
Gene end: 95656706
  
Corresponding Affymetrix probe sets: 217791_s_at (Human Genome U133 Plus 2.0 Array)   222416_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000360265
Ensembl peptide - ENSP00000360268
NCBI entrez gene - 5832     See in Manteia.
OMIM - 138250
RefSeq - NM_001323414
RefSeq - NM_001323415
RefSeq - NM_001323416
RefSeq - NM_001323417
RefSeq - NM_001323418
RefSeq - NM_002860
RefSeq - NM_001323419
RefSeq - NM_001017423
RefSeq - NM_001323412
RefSeq - NM_001323413
RefSeq Peptide - NP_001017423
RefSeq Peptide - NP_001310341
RefSeq Peptide - NP_001310342
RefSeq Peptide - NP_001310343
RefSeq Peptide - NP_001310344
RefSeq Peptide - NP_001310345
RefSeq Peptide - NP_001310346
RefSeq Peptide - NP_001310347
RefSeq Peptide - NP_001310348
RefSeq Peptide - NP_002851
swissprot - P54886
Ensembl - ENSG00000059573
  
Related genetic diseases (OMIM): 219150 - Cutis laxa, autosomal recessive, type IIIA, 219150
  601162 - Spastic paraplegia 9A, autosomal dominant, 601162
  616586 - Spastic paraplegia 9B, autosomal recessive, 616586
  616603 - Cutis laxa, autosomal dominant 3, 616603
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 aldh18a1ENSDARG00000099579Danio rerio
 ENSGALG00000034655Gallus gallus
 Q9Z110ENSMUSG00000025007Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
No match


Protein motifs (from Interpro)
Interpro ID 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
 IPR019797  Glutamate 5-kinase, conserved site
 IPR020593  Gamma-glutamyl phosphate reductase GPR, conserved site
 IPR036393  Acetylglutamate kinase-like superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006536 glutamate metabolic process IMP
 biological_processGO:0006561 proline biosynthetic process TAS
 biological_processGO:0006592 ornithine biosynthetic process IMP
 biological_processGO:0008152 metabolic process IEA
 biological_processGO:0008652 cellular amino acid biosynthetic process TAS
 biological_processGO:0016310 phosphorylation IEA
 biological_processGO:0019240 citrulline biosynthetic process IMP
 biological_processGO:0055114 oxidation-reduction process IEA
 biological_processGO:0055129 L-proline biosynthetic process IEA
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005739 mitochondrion IEA
 cellular_componentGO:0005743 mitochondrial inner membrane TAS
 cellular_componentGO:0005829 cytosol IDA
 cellular_componentGO:0016020 membrane IEA
 molecular_functionGO:0000166 nucleotide binding IEA
 molecular_functionGO:0003723 RNA binding HDA
 molecular_functionGO:0003824 catalytic activity IEA
 molecular_functionGO:0004349 glutamate 5-kinase activity IMP
 molecular_functionGO:0004350 glutamate-5-semialdehyde dehydrogenase activity IMP
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0005524 ATP binding IEA
 molecular_functionGO:0016301 kinase activity IEA
 molecular_functionGO:0016491 oxidoreductase activity IEA
 molecular_functionGO:0016620 oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor IEA
 molecular_functionGO:0016740 transferase activity IEA
 molecular_functionGO:0017084 delta1-pyrroline-5-carboxylate synthetase activity EXP
 molecular_functionGO:0042802 identical protein binding IDA


Pathways (from Reactome)
Pathway description
No match


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000006 Autosomal dominant inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele." [HPO:curators]
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 HP:0000007 Autosomal recessive inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele)." [HPO:curators]
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 HP:0000012 Urinary urgency 
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 HP:0000016 Urinary retention 
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 HP:0000020 Urinary incontinence "Loss of the ability to control the urinary bladder leading to involuntary urination." [HPO:sdoelken]
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 HP:0000023 Inguinal hernia 
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 HP:0000028 Cryptorchidism "Absence of one or both testes from the scrotum owing to failure of the testis or testes to descend through the inguinal canal to the testis." [HPO:curators]
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 HP:0000122 Unilateral renal agenesis 
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 HP:0000160 Microstomia "The presence of an abnormally small `mouth` (FMA:49184)." [HPO:curators]
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 HP:0000239 Large fontanelles "In newborns, the two frontal bones, two parietal bones, and one occipital bone are joined by fibrous sutures, which form a small posterior fontanelle, and a larger, diamond-shaped anterior fontanelle. These regions allow for the skull to pass the birth canal and for later growth. The fontanelles gradually ossify, whereby the posterior fontanelle usually closes by eight weeks and the anterior fontanelle by the 9th to 16th month of age. Large fontanelles are diagnosed if the fontanelles are larger than age-dependent norms." [HPO:curators]
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 HP:0000248 Brachycephaly "Brachycephaly refers to a short, wide head, which is often caused by premature closure of both coronal sutures." [HPO:curators]
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 HP:0000252 Microcephaly "Microcephaly is a neurodevelopmental disorder in which the circumference of the head is more than two standard deviations smaller than the age- and gender-dependent norm." [HPO:curators]
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 HP:0000270 Delayed closure of fontanelles "Infants normally have two fontanels at birth, the diamond-shaped anterior fontanelle at the junction of the coronal and sagittal sutures, and the posterior fontanelle at the intersection of the occipital and parietal bones. The posterior fontanelle usually closes by the 8th week of life, and the anterior fontanel closes by the 18th month of life on average. This term applies if there is delay of closure of the fontanelles beyond the normal age." [HPO:curators]
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 HP:0000293 Full cheeks 
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 HP:0000316 Hypertelorism 
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 HP:0000325 Triangular facies 
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 HP:0000337 Broad forehead "Abnormally large side-to-side distance of the forehead." [HPO:curators]
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 HP:0000369 Low-set ears "Low-set ears are defined to be set below an arbitrary line drawn between the lateral canthus of the eye and the occipital protruberance." [HPO:curators]
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 HP:0000400 Large ears 
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 HP:0000411 Protruding ears 
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 HP:0000418 Pinched nose 
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 HP:0000486 Strabismus "Strabismus (also known as squint) is a condition in which the eyes are not properly aligned with each other." [HPO:curators]
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 HP:0000518 Cataract "A cataract is an opacity or clouding that develops in the crystalline `lens` (FMA:58241) of the eye or in its `capsule` (FMA:58881)." [HPO:probinson]
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 HP:0000519 Congenital cataract "A congenital `cataract` (HP:0000518)." [HPO:probinson]
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 HP:0000545 Myopia 
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 HP:0000601 Hypotelorism 
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 HP:0000639 Nystagmus "Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms." [HPO:curators]
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 HP:0000729 Pervasive developmental disorder 
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 HP:0000750 Impaired language development 
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 HP:0000767 Pectus excavatum "A defect of the chest wall characterized by a depression of the sternum, giving the chest ("pectus") a caved-in ("excavatum") appearance." [HPO:curators]
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 HP:0000938 Osteopenia "Osteopenia refers to a reduction in bone mineral density (BMD) below normal peak BMD but not low enough to be classified as osteoporosis. According to the WHO, osteopenia is characterized by a value of BMD more than 1 standard deviation below the young adult mean, but less than 2 standard deviations below this value." [HPO:curators]
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 HP:0000963 Thin skin 
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 HP:0000973 Cutis laxa 
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 HP:0000974 Hyperextensible skin 
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 HP:0001084 Corneal arcus "A hazy, grayish-white ring about 2 mm in width located close to but separated from the limbus (the corneoscleral junction). Corneal arcus generally occurs bilaterally, and is related to lipid deposition in the cornea. Corneal arcus can occur in elderly persons as a part of the aging process but may be associated with hypercholesterolemia in people under the age of 50 years." [HPO:curators]
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 HP:0001181 Adducted thumbs 
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 HP:0001249 Mental retardation 
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 HP:0001250 Seizures "Seizures are an intermittent `abnormality of the central nervous system` (FMA:HP:0002011) due to a sudden, excessive, disorderly discharge of cerebral neurons and characterized clinically by some combination of disturbance of sensation, loss of consciousness, impairment of psychic function, or convulsive movements." [HPO:probinson]
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 HP:0001252 Muscular hypotonia "Muscular hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle), often involving reduced muscle strength. Hypotonia is characterized by a diminished resistance to passive stretching." [HPO:curators]
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 HP:0001257 Spasticity "A motor disorder characterized by a velocity-dependent increase in tonic stretch reflexes with increased muscle tone, exaggerated (hyperexcitable) tendon reflexes." [HPO:curators]
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 HP:0001258 Spastic paraplegia 
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 HP:0001260 Dysarthria "Dysarthric speech is a general description referring to a neurological speech disorder characterized by poor articulation. Depending on the involved neurological structures, dysarthria may be further classified as spastic, flaccid, ataxic, hyperkinetic and hypokinetic, or mixed." [HPO:curators]
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 HP:0001263 Developmental retardation "A delay in the achievement of motor or mental milestones manifested prior to age 18 and generally associated with lifelong mental and/or physical impairments." [HPO:curators]
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 HP:0001270 Motor retardation 
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 HP:0001288 Gait disturbance "The term gait disturbance can refer to any disruption of the ability to walk. In general, this can refer to neurological diseases but also fractures or other sources of pain that is triggered upon walking. However, in the current context gait disturbance refers to difficulty walking on the basis of a neurological or muscular disease." [HPO:curators]
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 HP:0001290 Generalized hypotonia "Generalized muscular hypotonia (abnormally low muscle tone)." [HPO:curators]
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 HP:0001317 Abnormality of the cerebellum 
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 HP:0001324 Muscle weakness "Reduced strength of muscles." [HPO:curators]
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 HP:0001328 Learning disability 
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 HP:0001337 Tremor "An unintentional, oscillating to-and-fro muscle movement." [HPO:curators]
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 HP:0001347 Hyperreflexia "The presence of overactive or overresponsive reflexes." [HPO:curators]
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 HP:0001348 Brisk reflexes 
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 HP:0001374 Congenital hip dislocation 
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 HP:0001382 Joint hypermobility "The ability of a joint to move beyond its normal range of motion." [HPO:curators]
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 HP:0001498 Carpal bone hypoplasia 
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 HP:0001508 Failure to thrive 
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 HP:0001511 Intrauterine growth retardation 
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 HP:0001537 Umbilical hernia "Protrusion of abdominal contents through a defect in the abdominal wall musculature around the umbilicus. Skin and subcutaneous tissue overlie the defect." [HPO:curators]
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 HP:0001582 Loose, redundant skin 
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 HP:0001642 Pulmonic stenosis "A narrowing of the right ventricular outflow tract that can occur at the pulmonary valve (valvular stenosis) or just below the pulmonary valve (infundibular stenosis). Infundibular pulmonic stenosis is mostly caused by overgrowth of the heart muscle wall (hypertrophy of the septoparietal trabeculae). Pulmonic stenosis is often seen as a part of Fallot s tetralogy, in which case the events leading to the formation of the overriding aorta are also believed to be a cause of the pulmonic stenosis. The pulmonic stenosis is the major cause of the malformations seen in patients with Fallot tetralogy, with the other associated malformations acting as compensatory mechanisms to the pulmonic stenosis. The degree of stenosis varies between individuals with TOF, and is the primary determinant of symptoms and severity. This malformation is infrequently described as sub-pulmonary stenosis or subpulmonary obstruction." [HPO:curators]
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 HP:0001654 Abnormality of the heart valves "An abnormality of a `Cardiac valve` (FMA:7110)." [HPO:probinson]
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 HP:0001659 Aortic insufficiency "An insufficiency of the aortic valve, leading to regurgitation (backward flow) of blood from the aorta into the left ventricle." [HPO:curators]
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 HP:0001761 Pes cavus 
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 HP:0001762 Talipes equinovarus "Also called clubfoot typically has 4 main components: inversion and adduction of the forefoot; inversion of the heel and hindfoot; equinus (limitation of extension) of the ankle and subtalar joint; and internal rotation of the leg. Clubfoot is a complex, multifactorial deformity with genetic and intrauterine factors. One popular theory postulates that a clubfoot is a result of intrauterine maldevelopment of the talus that leads to adduction and plantarflexion of the foot. On radiographic projection a clubfoot can be noted as parallel axes of talus and calcaneus." [HPO:curators]
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 HP:0001999 Facial dysmorphism 
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 HP:0002007 Frontal bossing "The presence of an unusually prominent forehead." [HPO:curators]
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 HP:0002013 Vomiting 
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 HP:0002020 Gastroesophageal reflux 
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 HP:0002036 Hiatus hernia "A tendency for the upper part of the stomach to herniate into the thorax because of a weakness of the esophageal hiatus, which is the hole in the diaphragm through which the esophagus passes. Hiatus hernia can be asymptomatic or can lead to acid reflux symptoms (heartburn)." [HPO:curators]
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 HP:0002061 Lower limb spasticity 
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 HP:0002064 Spastic gait 
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 HP:0002097 Emphysema 
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 HP:0002120 Cerebral cortical atrophy 
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 HP:0002127 Upper motor neuron abnormality 
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 HP:0002174 Postural tremor "A type of tremors that is triggered by holding a limb in a fixed position." [HPO:curators]
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 HP:0002305 Athetosis "Athetosis (from the Greek word for changeable or unfixed ) refers to an inability to sustain the muscles of the fingers, toes, tongue, or any other group of muscles in a fixed position. Instead, posture is interrupted by slow, purposeless involuntary movements." [HPO:curators]
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 HP:0002371 Loss of speech 
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 HP:0002395 Lower limb hyperreflexia 
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 HP:0002445 Tetraplegia 
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 HP:0002476 Primitive reflexes (palmomental, snout, glabellar) 
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 HP:0002495 Impaired vibratory sense "A decrease in the ability to perceive vibration. Clinically, this is usually tested with a tuning fork which vibrates at 128 Hz and is applied to bony prominences such as the malleoli at the ankles or the metacarpal-phalangeal joints. There is a slow decay of vibration from the tuning fork. The degree of vibratory sense loss can be crudely estimated by counting the number of seconds that the examiner can perceive the vibration longer than the patient." [HPO:curators]
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 HP:0002518 Periventricular white matter changes 
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 HP:0002644 Abnormality of the pelvis "An abnormality of the bony pelvis (pelvic girdle); which is a ring of bones connecting the vertebral column to the femurs." [HPO:curators]
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 HP:0002645 Wormian bones 
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 HP:0002650 Scoliosis "The presence of an abnormal lateral curvature of the spine." [HPO:curators]
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 HP:0002677 Small foramen magnum "An abnormal decrease in the size of the foramen magnum." [HPO:curators]
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 HP:0002750 Delayed skeletal maturation "A decreased rate of skeletal maturation. Delayed skeletal maturation can be diagnosed on the basis of an estimation of the bone age from radiographs of specific bones in the human body." [HPO:curators]
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 HP:0002751 Kyphoscoliosis 
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 HP:0002827 Dislocated hips 
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 HP:0003202 Amyotrophy "The presence of muscular atrophy (which is also known as amyotrophy)." [HPO:curators]
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 HP:0003438 Absent ankle reflexes 
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 HP:0003487 Babinski sign "Upturning of the big toe (and sometimes fanning of the other toes) in response to stimulation of the sole of the foot. If the Babinski sign is present it can indicate damage to the corticospinal tract." [HPO:curators]
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 HP:0003510 Short stature, severe "A severe degree of short stature." [HPO:curators]
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 HP:0003676 Progressive disorder 
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 HP:0003677 Slow progression 
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 HP:0003700 Generalized amyotrophy "Generalized wasting of loss of muscle tissue." [HPO:curators]
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 HP:0003743 Genetic anticipation 
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 HP:0003745 Sporadic 
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 HP:0004322 Decreased body height "A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms)." [HPO:curators]
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 HP:0004942 Aortic aneurysms 
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 HP:0005222 Bowel diverticula 
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 HP:0005692 Joint hyperflexibility 
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 HP:0006938 Decreased vibration sense at ankles 
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 HP:0007024 Pseudobulbar paralysis "Bilateral impairment of the function of the cranial nerves 9-12, which control musculature involved in eating, swallowing, and speech. Pseudobulbar paralysis is characterized clinically by dysarthria, dysphonia, and dysphagia with bifacial paralysis, and may be accompanied by `Pseudobulbar behavioral symptoms` (HP:0002193) such as enforced crying and laughing." [HPO:sdoelken]
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 HP:0007178 Motor polyneuropathy 
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 HP:0007299 Dysfunction of lateral corticospinal tracts 
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 HP:0007340 Lower limb muscle weakness "Weakness of the muscles of the legs." [HPO:curators]
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 HP:0007350 Hyperreflexia in upper limbs 
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 HP:0007371 Atrophy/Degeneration of the corpus callosum "The presence of atrophy (wasting) of the corpus callosum." [HPO:sdoelken]
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 HP:0007394 Prominent superficial blood vessels 
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 HP:0007957 Variable degree of corneal opacities 
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 HP:0008070 Sparse hair 
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 HP:0009027 Foot dorsiflexor weakness 
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 HP:0010537 Wide cranial sutures "An abnormally increased width of the cranial sutures." [HPO:curators]
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 HP:0011220 Prominent forehead "Forward prominence of the entire forehead, due to protrusion of the frontal bone." [pmid:19125436]
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 HP:0011968 Feeding difficulties "Impaired ability to eat related to problems gathering food and getting ready to suck, chew, or swallow it." [ISCA:eriggs]
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 HP:0031064 Impaired continence "Partial or total incontinence of bowel or bladder." []
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 HP:0040083 Toe walking 
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 HP:0100515 Pollakisuria "Increased frequency of urination." [HPO:probinson]
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 HP:0100678 Wrinkled skin 
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 HP:0100790 Hernia 
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000059573 P54886 / ALDH18A1 / aldehyde dehydrogenase 18 family member A1  / complex






 

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