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Protein

Delta-1-pyrroline-5-carboxylate synthase

Gene

ALDH18A1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

Bifunctional enzyme that converts glutamate to glutamate 5-semialdehyde, an intermediate in the biosynthesis of proline, ornithine and arginine.4 Publications

<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> section describes the catalytic activity of an enzyme, i.e. a chemical reaction that the enzyme catalyzes.<p><a href='/help/catalytic_activity' target='_top'>More...</a></p>Catalytic activityi

<p>This subsection of the ‘Function’ section describes regulatory mechanisms for enzymes, transporters or microbial transcription factors, and reports the components which regulate (by activation or inhibition) the reaction.<p><a href='/help/activity_regulation' target='_top'>More...</a></p>Activity regulationi

Isoform Short: Inhibited by L-ornithine with a Ki of approximately 0.25 mm. Isoform Long: Insensitive to ornithine inhibition. This is due to the two amino acid insert which abolishes feedback inhibition of P5CS activity by L-ornithine.1 Publication

<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section describes the metabolic pathway(s) associated with a protein.<p><a href='/help/pathway' target='_top'>More...</a></p>Pathwayi: L-proline biosynthesis

This protein is involved in step 1 and 2 of the subpathway that synthesizes L-glutamate 5-semialdehyde from L-glutamate.1 Publication
Proteins known to be involved in the 2 steps of the subpathway in this organism are:
  1. Delta-1-pyrroline-5-carboxylate synthase (ALDH18A1)
  2. Delta-1-pyrroline-5-carboxylate synthase (ALDH18A1)
This subpathway is part of the pathway L-proline biosynthesis, which is itself part of Amino-acid biosynthesis.
View all proteins of this organism that are known to be involved in the subpathway that synthesizes L-glutamate 5-semialdehyde from L-glutamate, the pathway L-proline biosynthesis and in Amino-acid biosynthesis.

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Function’ section describes the interaction between a single amino acid and another chemical entity. Priority is given to the annotation of physiological ligands.<p><a href='/help/binding' target='_top'>More...</a></p>Binding sitei117SubstrateBy similarity1
Binding sitei223SubstrateBy similarity1
Binding sitei246Substrate; via amide nitrogenBy similarity1

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Function’ section describes a region in the protein which binds nucleotide phosphates. It always involves more than one amino acid and includes all residues involved in nucleotide-binding.<p><a href='/help/np_bind' target='_top'>More...</a></p>Nucleotide bindingi266 – 267ATPBy similarity2
Nucleotide bindingi305 – 311ATPBy similarity7

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionKinase, Multifunctional enzyme, Oxidoreductase, Transferase
Biological processAmino-acid biosynthesis, Proline biosynthesis
LigandATP-binding, NADP, Nucleotide-binding

Enzyme and pathway databases

BioCyc Collection of Pathway/Genome Databases

More...
BioCyci
MetaCyc:HS00730-MONOMER

Reactome - a knowledgebase of biological pathways and processes

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Reactomei
R-HSA-70614 Amino acid synthesis and interconversion (transamination)

UniPathway: a resource for the exploration and annotation of metabolic pathways

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UniPathwayi
UPA00098;UER00359

UPA00098;UER00360

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Delta-1-pyrroline-5-carboxylate synthase
Short name:
P5CS
Alternative name(s):
Aldehyde dehydrogenase family 18 member A1
Including the following 2 domains:
Glutamate 5-kinase (EC:2.7.2.111 Publication)
Short name:
GK
Alternative name(s):
Gamma-glutamyl kinase
Gamma-glutamyl phosphate reductase (EC:1.2.1.411 Publication)
Short name:
GPR
Alternative name(s):
Glutamate-5-semialdehyde dehydrogenase
Glutamyl-gamma-semialdehyde dehydrogenase
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:ALDH18A1
Synonyms:GSAS, P5CS, PYCS
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 10

Organism-specific databases

Eukaryotic Pathogen Database Resources

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EuPathDBi
HostDB:ENSG00000059573.8

Human Gene Nomenclature Database

More...
HGNCi
HGNC:9722 ALDH18A1

Online Mendelian Inheritance in Man (OMIM)

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MIMi
138250 gene

neXtProt; the human protein knowledge platform

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neXtProti
NX_P54886

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Membrane, Mitochondrion, Mitochondrion inner membrane

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Cutis laxa, autosomal recessive, 3A (ARCL3A)4 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA syndrome characterized by facial dysmorphism with a progeroid appearance, large and late-closing fontanel, cutis laxa, joint hyperlaxity, athetoid movements and hyperreflexia, pre- and postnatal growth retardation, intellectual deficit, developmental delay, and ophthalmologic abnormalities.
See also OMIM:219150
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_03848284R → Q in ARCL3A; reduction of activity. 1 PublicationCorresponds to variant dbSNP:rs121434582EnsemblClinVar.1
Natural variantiVAR_07588493G → R in ARCL3A. 1 Publication1
Natural variantiVAR_051792299T → I in ARCL3A. 3 PublicationsCorresponds to variant dbSNP:rs2275272EnsemblClinVar.1
Natural variantiVAR_075896782Y → C in ARCL3A. 1 PublicationCorresponds to variant dbSNP:rs774047299EnsemblClinVar.1
Natural variantiVAR_058006784H → Y in ARCL3A; does not affect proline and ornithine biosynthetic activity. 1 PublicationCorresponds to variant dbSNP:rs121434583EnsemblClinVar.1
Cutis laxa, autosomal dominant, 3 (ADCL3)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of cutis laxa, a connective tissue disorder characterized by loose, hyperextensible skin with decreased resilience and elasticity leading to a premature aged appearance. Face, hands, feet, joints, and torso may be differentially affected. Additional variable clinical features are gastrointestinal diverticula, hernia, and genital prolapse. Rare manifestations are pulmonary artery stenosis, aortic aneurysm, bronchiectasis, and emphysema. ADCL3 patients manifest thin skin with visible veins and wrinkles, cataract or corneal clouding, moderate intellectual disability, muscular hypotonia with brisk muscle reflexes, clenched fingers, and pre- and postnatal growth retardation.
See also OMIM:616603
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_075887138R → L in ADCL3. 1 PublicationCorresponds to variant dbSNP:rs863225045EnsemblClinVar.1
Natural variantiVAR_075888138R → Q in ADCL3. 1 PublicationCorresponds to variant dbSNP:rs863225045EnsemblClinVar.1
Natural variantiVAR_075889138R → W in ADCL3; no effect on protein abundance; altered sub-mitochondrial distribution; decreased proline biosynthetic process. 1 PublicationCorresponds to variant dbSNP:rs863225044EnsemblClinVar.1
Spastic paraplegia 9A, autosomal dominant (SPG9A)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body. SPG9A patients have gait difficulties, motor neuropathy, and dysarthria. Additional variable features include cerebellar signs, cataract, pes cavus, and urinary urgency.
See also OMIM:601162
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_075885120V → A in SPG9A. 1 PublicationCorresponds to variant dbSNP:rs863224945EnsemblClinVar.1
Natural variantiVAR_075890243V → L in SPG9A; decreased protein abundance; no effect on localization to the mitochondrion; altered homohexamerization; loss of glutamate 5-kinase activity; no effect on glutamate-5-semialdehyde dehydrogenase activity; decreased amino acid biosynthetic process. 1 PublicationCorresponds to variant dbSNP:rs864321669EnsemblClinVar.1
Natural variantiVAR_075891252R → Q in SPG9A; altered homohexamerization; no effect on localization to the mitochondrion; loss of glutamate 5-kinase activity; no effect on glutamate-5-semialdehyde dehydrogenase activity; decreased amino acid biosynthetic process. 2 PublicationsCorresponds to variant dbSNP:rs864321670EnsemblClinVar.1
Natural variantiVAR_075893652S → F in SPG9A. 1 Publication1
Natural variantiVAR_075894665R → L in SPG9A. 1 PublicationCorresponds to variant dbSNP:rs766264810EnsemblClinVar.1
Spastic paraplegia 9B, autosomal recessive (SPG9B)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body. SPG9B is a complex form characterized by delayed psychomotor development, intellectual disability, and severe motor impairment. Dysmorphic facial features, tremor, and urinary incontinence are variably observed in SPG9B patients.
See also OMIM:616586
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_075886128R → H in SPG9B. 1 PublicationCorresponds to variant dbSNP:rs768323248EnsemblClinVar.1
Natural variantiVAR_075892637L → P in SPG9B. 1 PublicationCorresponds to variant dbSNP:rs869320690EnsemblClinVar.1
Natural variantiVAR_075895715D → H in SPG9B. 1 PublicationCorresponds to variant dbSNP:rs752669339EnsemblClinVar.1

Keywords - Diseasei

Disease mutation, Hereditary spastic paraplegia, Mental retardation, Neurodegeneration

Organism-specific databases

DisGeNET

More...
DisGeNETi
5832

MalaCards human disease database

More...
MalaCardsi
ALDH18A1
MIMi219150 phenotype
601162 phenotype
616586 phenotype
616603 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000059573

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...
Orphaneti
35664 ALDH18A1-related De Barsy syndrome
90348 Autosomal dominant cutis laxa
447753 Autosomal dominant spastic paraplegia type 9A
447757 Autosomal dominant spastic paraplegia type 9B
447760 Autosomal recessive spastic paraplegia type 9B

The Pharmacogenetics and Pharmacogenomics Knowledge Base

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PharmGKBi
PA34065

Chemistry databases

Drug and drug target database

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DrugBanki
DB00142 L-Glutamic Acid

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
ALDH18A1

Domain mapping of disease mutations (DMDM)

More...
DMDMi
6226882

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00001097691 – 795Delta-1-pyrroline-5-carboxylate synthaseAdd BLAST795

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei311N6-succinyllysineBy similarity1
Modified residuei347N6-succinyllysineBy similarity1
Modified residuei550N6-succinyllysineBy similarity1

Proteomic databases

Encyclopedia of Proteome Dynamics

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EPDi
P54886

MaxQB - The MaxQuant DataBase

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MaxQBi
P54886

PaxDb, a database of protein abundance averages across all three domains of life

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PaxDbi
P54886

PeptideAtlas

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PeptideAtlasi
P54886

PRoteomics IDEntifications database

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PRIDEi
P54886

ProteomicsDB human proteome resource

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ProteomicsDBi
56745
56746 [P54886-2]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

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iPTMneti
P54886

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

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PhosphoSitePlusi
P54886

SwissPalm database of S-palmitoylation events

More...
SwissPalmi
P54886

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

Gene expression databases

Bgee dataBase for Gene Expression Evolution

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Bgeei
ENSG00000059573 Expressed in 212 organ(s), highest expression level in saliva-secreting gland

CleanEx database of gene expression profiles

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CleanExi
HS_ALDH18A1

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
P54886 HS

Organism-specific databases

Human Protein Atlas

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HPAi
HPA008333
HPA012604

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Homohexamer or homotetramer.2 Publications

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction_section%27">Interaction</a> section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="http://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated on a monthly basis. Each binary interaction is displayed on a separate line.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
111790, 45 interactors

Protein interaction database and analysis system

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IntActi
P54886, 28 interactors

Molecular INTeraction database

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MINTi
P54886

STRING: functional protein association networks

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STRINGi
9606.ENSP00000360268

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

Secondary structure

1795
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

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ProteinModelPortali
P54886

SWISS-MODEL Repository - a database of annotated 3D protein structure models

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SMRi
P54886

Database of comparative protein structure models

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ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

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MobiDBi
Search...

Miscellaneous databases

Relative evolutionary importance of amino acids within a protein sequence

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EvolutionaryTracei
P54886

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni1 – 361Glutamate 5-kinaseAdd BLAST361
Regioni362 – 795Gamma-glutamyl phosphate reductaseAdd BLAST434

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

In the N-terminal section; belongs to the glutamate 5-kinase family.Curated
In the C-terminal section; belongs to the gamma-glutamyl phosphate reductase family.Curated

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG1154 Eukaryota
KOG4165 Eukaryota
COG0014 LUCA
COG0263 LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00500000044903

The HOVERGEN Database of Homologous Vertebrate Genes

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HOVERGENi
HBG007911

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
P54886

KEGG Orthology (KO)

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KOi
K12657

Identification of Orthologs from Complete Genome Data

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OMAi
EGRECIM

Database of Orthologous Groups

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OrthoDBi
EOG091G02MP

Database for complete collections of gene phylogenies

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PhylomeDBi
P54886

TreeFam database of animal gene trees

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TreeFami
TF314372

Family and domain databases

Conserved Domains Database

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CDDi
cd07079 ALDH_F18-19_ProA-GPR, 1 hit

Gene3D Structural and Functional Annotation of Protein Families

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Gene3Di
3.40.1160.10, 1 hit
3.40.309.10, 1 hit
3.40.605.10, 1 hit

HAMAP database of protein families

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HAMAPi
MF_00412 ProA, 1 hit
MF_00456 ProB, 1 hit

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR036393 AceGlu_kinase-like_sf
IPR016161 Ald_DH/histidinol_DH
IPR016163 Ald_DH_C
IPR016162 Ald_DH_N
IPR015590 Aldehyde_DH_dom
IPR001048 Asp/Glu/Uridylate_kinase
IPR020593 G-glutamylP_reductase_CS
IPR001057 Glu/AcGlu_kinase
IPR005715 Glu_5kinase/COase_Synthase
IPR019797 Glutamate_5-kinase_CS
IPR000965 GPR_dom
IPR005766 P5_carboxy_syn

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF00696 AA_kinase, 1 hit
PF00171 Aldedh, 1 hit

PIRSF; a whole-protein classification database

More...
PIRSFi
PIRSF036429 P5C_syn, 1 hit

Protein Motif fingerprint database; a protein domain database

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PRINTSi
PR00474 GLU5KINASE

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF53633 SSF53633, 1 hit
SSF53720 SSF53720, 1 hit

TIGRFAMs; a protein family database

More...
TIGRFAMsi
TIGR01092 P5CS, 1 hit
TIGR00407 proA, 1 hit

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS00902 GLUTAMATE_5_KINASE, 1 hit
PS01223 PROA, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>.<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (2)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry describes 2 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket
Isoform Long (identifier: P54886-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MLSQVYRCGF QPFNQHLLPW VKCTTVFRSH CIQPSVIRHV RSWSNIPFIT
60 70 80 90 100
VPLSRTHGKS FAHRSELKHA KRIVVKLGSA VVTRGDECGL ALGRLASIVE
110 120 130 140 150
QVSVLQNQGR EMMLVTSGAV AFGKQRLRHE ILLSQSVRQA LHSGQNQLKE
160 170 180 190 200
MAIPVLEARA CAAAGQSGLM ALYEAMFTQY SICAAQILVT NLDFHDEQKR
210 220 230 240 250
RNLNGTLHEL LRMNIVPIVN TNDAVVPPAE PNSDLQGVNV ISVKDNDSLA
260 270 280 290 300
ARLAVEMKTD LLIVLSDVEG LFDSPPGSDD AKLIDIFYPG DQQSVTFGTK
310 320 330 340 350
SRVGMGGMEA KVKAALWALQ GGTSVVIANG THPKVSGHVI TDIVEGKKVG
360 370 380 390 400
TFFSEVKPAG PTVEQQGEMA RSGGRMLATL EPEQRAEIIH HLADLLTDQR
410 420 430 440 450
DEILLANKKD LEEAEGRLAA PLLKRLSLST SKLNSLAIGL RQIAASSQDS
460 470 480 490 500
VGRVLRRTRI AKNLELEQVT VPIGVLLVIF ESRPDCLPQV AALAIASGNG
510 520 530 540 550
LLLKGGKEAA HSNRILHLLT QEALSIHGVK EAVQLVNTRE EVEDLCRLDK
560 570 580 590 600
MIDLIIPRGS SQLVRDIQKA AKGIPVMGHS EGICHMYVDS EASVDKVTRL
610 620 630 640 650
VRDSKCEYPA ACNALETLLI HRDLLRTPLF DQIIDMLRVE QVKIHAGPKF
660 670 680 690 700
ASYLTFSPSE VKSLRTEYGD LELCIEVVDN VQDAIDHIHK YGSSHTDVIV
710 720 730 740 750
TEDENTAEFF LQHVDSACVF WNASTRFSDG YRFGLGAEVG ISTSRIHARG
760 770 780 790
PVGLEGLLTT KWLLRGKDHV VSDFSEHGSL KYLHENLPIP QRNTN
Length:795
Mass (Da):87,302
Last modified:May 30, 2000 - v2
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:i8BF27EF2A8FB2D79
GO
Isoform Short (identifier: P54886-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     239-240: Missing.

Show »
Length:793
Mass (Da):87,089
Checksum:i550F0B435805C0CA
GO

<p>This subsection of the ‘Sequence’ section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

The sequence BAH12086 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated
The sequence BAH13064 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti87E → K in BAG35201 (PubMed:14702039).Curated1
Sequence conflicti126R → T in CAA64224 (PubMed:8761662).Curated1
Sequence conflicti266S → P in CAA64224 (PubMed:8761662).Curated1
Sequence conflicti299T → P in CAA64224 (PubMed:8761662).Curated1
Sequence conflicti305 – 307MGG → NGC in CAA64224 (PubMed:8761662).Curated3
Sequence conflicti314 – 315AA → ST in CAA64224 (PubMed:8761662).Curated2
Sequence conflicti487 – 493LPQVAAL → PTPGGSF in CAA64224 (PubMed:8761662).Curated7

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_03848284R → Q in ARCL3A; reduction of activity. 1 PublicationCorresponds to variant dbSNP:rs121434582EnsemblClinVar.1
Natural variantiVAR_07588493G → R in ARCL3A. 1 Publication1
Natural variantiVAR_075885120V → A in SPG9A. 1 PublicationCorresponds to variant dbSNP:rs863224945EnsemblClinVar.1
Natural variantiVAR_075886128R → H in SPG9B. 1 PublicationCorresponds to variant dbSNP:rs768323248EnsemblClinVar.1
Natural variantiVAR_075887138R → L in ADCL3. 1 PublicationCorresponds to variant dbSNP:rs863225045EnsemblClinVar.1
Natural variantiVAR_075888138R → Q in ADCL3. 1 PublicationCorresponds to variant dbSNP:rs863225045EnsemblClinVar.1
Natural variantiVAR_075889138R → W in ADCL3; no effect on protein abundance; altered sub-mitochondrial distribution; decreased proline biosynthetic process. 1 PublicationCorresponds to variant dbSNP:rs863225044EnsemblClinVar.1
Natural variantiVAR_075890243V → L in SPG9A; decreased protein abundance; no effect on localization to the mitochondrion; altered homohexamerization; loss of glutamate 5-kinase activity; no effect on glutamate-5-semialdehyde dehydrogenase activity; decreased amino acid biosynthetic process. 1 PublicationCorresponds to variant dbSNP:rs864321669EnsemblClinVar.1
Natural variantiVAR_075891252R → Q in SPG9A; altered homohexamerization; no effect on localization to the mitochondrion; loss of glutamate 5-kinase activity; no effect on glutamate-5-semialdehyde dehydrogenase activity; decreased amino acid biosynthetic process. 2 PublicationsCorresponds to variant dbSNP:rs864321670EnsemblClinVar.1
Natural variantiVAR_051792299T → I in ARCL3A. 3 PublicationsCorresponds to variant dbSNP:rs2275272EnsemblClinVar.1
Natural variantiVAR_051793372S → Y1 PublicationCorresponds to variant dbSNP:rs3765571EnsemblClinVar.1
Natural variantiVAR_075892637L → P in SPG9B. 1 PublicationCorresponds to variant dbSNP:rs869320690EnsemblClinVar.1
Natural variantiVAR_075893652S → F in SPG9A. 1 Publication1
Natural variantiVAR_075894665R → L in SPG9A. 1 PublicationCorresponds to variant dbSNP:rs766264810EnsemblClinVar.1
Natural variantiVAR_075895715D → H in SPG9B. 1 PublicationCorresponds to variant dbSNP:rs752669339EnsemblClinVar.1
Natural variantiVAR_075896782Y → C in ARCL3A. 1 PublicationCorresponds to variant dbSNP:rs774047299EnsemblClinVar.1
Natural variantiVAR_058006784H → Y in ARCL3A; does not affect proline and ornithine biosynthetic activity. 1 PublicationCorresponds to variant dbSNP:rs121434583EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting. The information stored in this subsection is used to automatically construct alternative protein sequence(s) for display.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_005215239 – 240Missing in isoform Short. 2 Publications2

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
Links Updated
X94453 mRNA Translation: CAA64224.1
U76542 mRNA Translation: AAD17454.1
U68758 mRNA Translation: AAD00169.1
AK295487 mRNA Translation: BAH12086.1 Different initiation.
AK299557 mRNA Translation: BAH13064.1 Different initiation.
AK312271 mRNA Translation: BAG35201.1
AL356632 Genomic DNA No translation available.
CH471066 Genomic DNA Translation: EAW49995.1
CH471066 Genomic DNA Translation: EAW49994.1
CH471066 Genomic DNA Translation: EAW49996.1
CH471066 Genomic DNA Translation: EAW49997.1
BC106054 mRNA Translation: AAI06055.1
BC117240 mRNA Translation: AAI17241.1
BC117242 mRNA Translation: AAI17243.1
BC143930 mRNA Translation: AAI43931.1

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS31257.1 [P54886-2]
CCDS7443.1 [P54886-1]

NCBI Reference Sequences

More...
RefSeqi
NP_001017423.1, NM_001017423.1 [P54886-2]
NP_001310341.1, NM_001323412.1
NP_001310342.1, NM_001323413.1 [P54886-1]
NP_001310343.1, NM_001323414.1 [P54886-1]
NP_001310344.1, NM_001323415.1 [P54886-2]
NP_001310345.1, NM_001323416.1
NP_001310348.1, NM_001323419.1
NP_002851.2, NM_002860.3 [P54886-1]

UniGene gene-oriented nucleotide sequence clusters

More...
UniGenei
Hs.500645

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000371221; ENSP00000360265; ENSG00000059573 [P54886-2]
ENST00000371224; ENSP00000360268; ENSG00000059573 [P54886-1]

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
5832

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:5832

UCSC genome browser

More...
UCSCi
uc001kky.4 human [P54886-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
X94453 mRNA Translation: CAA64224.1
U76542 mRNA Translation: AAD17454.1
U68758 mRNA Translation: AAD00169.1
AK295487 mRNA Translation: BAH12086.1 Different initiation.
AK299557 mRNA Translation: BAH13064.1 Different initiation.
AK312271 mRNA Translation: BAG35201.1
AL356632 Genomic DNA No translation available.
CH471066 Genomic DNA Translation: EAW49995.1
CH471066 Genomic DNA Translation: EAW49994.1
CH471066 Genomic DNA Translation: EAW49996.1
CH471066 Genomic DNA Translation: EAW49997.1
BC106054 mRNA Translation: AAI06055.1
BC117240 mRNA Translation: AAI17241.1
BC117242 mRNA Translation: AAI17243.1
BC143930 mRNA Translation: AAI43931.1
CCDSiCCDS31257.1 [P54886-2]
CCDS7443.1 [P54886-1]
RefSeqiNP_001017423.1, NM_001017423.1 [P54886-2]
NP_001310341.1, NM_001323412.1
NP_001310342.1, NM_001323413.1 [P54886-1]
NP_001310343.1, NM_001323414.1 [P54886-1]
NP_001310344.1, NM_001323415.1 [P54886-2]
NP_001310345.1, NM_001323416.1
NP_001310348.1, NM_001323419.1
NP_002851.2, NM_002860.3 [P54886-1]
UniGeneiHs.500645

3D structure databases

Select the link destinations:

Protein Data Bank Europe

More...
PDBei

Protein Data Bank RCSB

More...
RCSB PDBi

Protein Data Bank Japan

More...
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2H5GX-ray2.25A/B362-795[»]
ProteinModelPortaliP54886
SMRiP54886
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi111790, 45 interactors
IntActiP54886, 28 interactors
MINTiP54886
STRINGi9606.ENSP00000360268

Chemistry databases

DrugBankiDB00142 L-Glutamic Acid

PTM databases

iPTMnetiP54886
PhosphoSitePlusiP54886
SwissPalmiP54886

Polymorphism and mutation databases

BioMutaiALDH18A1
DMDMi6226882

Proteomic databases

EPDiP54886
MaxQBiP54886
PaxDbiP54886
PeptideAtlasiP54886
PRIDEiP54886
ProteomicsDBi56745
56746 [P54886-2]

Protocols and materials databases

The DNASU plasmid repository

More...
DNASUi
5832
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000371221; ENSP00000360265; ENSG00000059573 [P54886-2]
ENST00000371224; ENSP00000360268; ENSG00000059573 [P54886-1]
GeneIDi5832
KEGGihsa:5832
UCSCiuc001kky.4 human [P54886-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
5832
DisGeNETi5832
EuPathDBiHostDB:ENSG00000059573.8

GeneCards: human genes, protein and diseases

More...
GeneCardsi
ALDH18A1
HGNCiHGNC:9722 ALDH18A1
HPAiHPA008333
HPA012604
MalaCardsiALDH18A1
MIMi138250 gene
219150 phenotype
601162 phenotype
616586 phenotype
616603 phenotype
neXtProtiNX_P54886
OpenTargetsiENSG00000059573
Orphaneti35664 ALDH18A1-related De Barsy syndrome
90348 Autosomal dominant cutis laxa
447753 Autosomal dominant spastic paraplegia type 9A
447757 Autosomal dominant spastic paraplegia type 9B
447760 Autosomal recessive spastic paraplegia type 9B
PharmGKBiPA34065

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG1154 Eukaryota
KOG4165 Eukaryota
COG0014 LUCA
COG0263 LUCA
GeneTreeiENSGT00500000044903
HOVERGENiHBG007911
InParanoidiP54886
KOiK12657
OMAiEGRECIM
OrthoDBiEOG091G02MP
PhylomeDBiP54886
TreeFamiTF314372

Enzyme and pathway databases

UniPathwayi
UPA00098;UER00359

UPA00098;UER00360

BioCyciMetaCyc:HS00730-MONOMER
ReactomeiR-HSA-70614 Amino acid synthesis and interconversion (transamination)

Miscellaneous databases

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...
ChiTaRSi
ALDH18A1 human
EvolutionaryTraceiP54886

The Gene Wiki collection of pages on human genes and proteins

More...
GeneWikii
Aldehyde_dehydrogenase_18_family,_member_A1

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...
GenomeRNAii
5832

Protein Ontology

More...
PROi
PR:P54886

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000059573 Expressed in 212 organ(s), highest expression level in saliva-secreting gland
CleanExiHS_ALDH18A1
GenevisibleiP54886 HS

Family and domain databases

CDDicd07079 ALDH_F18-19_ProA-GPR, 1 hit
Gene3Di3.40.1160.10, 1 hit
3.40.309.10, 1 hit
3.40.605.10, 1 hit
HAMAPiMF_00412 ProA, 1 hit
MF_00456 ProB, 1 hit
InterProiView protein in InterPro
IPR036393 AceGlu_kinase-like_sf
IPR016161 Ald_DH/histidinol_DH
IPR016163 Ald_DH_C
IPR016162 Ald_DH_N
IPR015590 Aldehyde_DH_dom
IPR001048 Asp/Glu/Uridylate_kinase
IPR020593 G-glutamylP_reductase_CS
IPR001057 Glu/AcGlu_kinase
IPR005715 Glu_5kinase/COase_Synthase
IPR019797 Glutamate_5-kinase_CS
IPR000965 GPR_dom
IPR005766 P5_carboxy_syn
PfamiView protein in Pfam
PF00696 AA_kinase, 1 hit
PF00171 Aldedh, 1 hit
PIRSFiPIRSF036429 P5C_syn, 1 hit
PRINTSiPR00474 GLU5KINASE
SUPFAMiSSF53633 SSF53633, 1 hit
SSF53720 SSF53720, 1 hit
TIGRFAMsiTIGR01092 P5CS, 1 hit
TIGR00407 proA, 1 hit
PROSITEiView protein in PROSITE
PS00902 GLUTAMATE_5_KINASE, 1 hit
PS01223 PROA, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...
ProtoNeti
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiP5CS_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: P54886
Secondary accession number(s): B2R5Q4
, B7Z350, B7Z5X8, B7ZLP1, D3DR44, O95952, Q3KQU2, Q5T566, Q5T567, Q9UM72
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: October 1, 1996
Last sequence update: May 30, 2000
Last modified: December 5, 2018
This is version 199 of the entry and version 2 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

  1. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  2. SIMILARITY comments
    Index of protein domains and families
  3. Human chromosome 10
    Human chromosome 10: entries, gene names and cross-references to MIM
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. PATHWAY comments
    Index of metabolic and biosynthesis pathways
  6. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  7. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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