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Entry version 206 (07 Oct 2020)
Sequence version 3 (01 Feb 2005)
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Protein

Delta-1-pyrroline-5-carboxylate dehydrogenase, mitochondrial

Gene

ALDH4A1

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

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.1 Publication

<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">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 biophysical and chemical properties, such as maximal absorption, kinetic parameters, pH dependence, redox potentials and temperature dependence.<p><a href='/help/biophysicochemical_properties' target='_top'>More...</a></p>Kineticsi

  1. KM=100 µM for NAD1 Publication
  2. KM=32 µM for L-pyrroline-5-carboxylate1 Publication

    <p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">'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 degradation into L-glutamate

    This protein is involved in step 2 of the subpathway that synthesizes L-glutamate from L-proline.1 Publication
    Proteins known to be involved in the 2 steps of the subpathway in this organism are:
    1. Proline dehydrogenase 1, mitochondrial (PRODH)
    2. Multifunctional fusion protein (ALDH4A1), Delta-1-pyrroline-5-carboxylate dehydrogenase, mitochondrial (ALDH4A1)
    This subpathway is part of the pathway L-proline degradation into L-glutamate, which is itself part of Amino-acid degradation.
    View all proteins of this organism that are known to be involved in the subpathway that synthesizes L-glutamate from L-proline, the pathway L-proline degradation into L-glutamate and in Amino-acid degradation.

    Sites

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    <p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> 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 sitei208NADBy similarity1
    <p>This subsection describes interesting single amino acid sites on the sequence that are not defined in any other subsection. This subsection can be displayed in different sections ('Function', 'PTM / Processing', 'Pathology and Biotech') according to its content.<p><a href='/help/site' target='_top'>More...</a></p>Sitei211Transition state stabilizerBy similarity1
    Binding sitei233NADBy similarity1
    <p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> section is used for enzymes and indicates the residues directly involved in catalysis.<p><a href='/help/act_site' target='_top'>More...</a></p>Active sitei314Proton acceptorPROSITE-ProRule annotation1
    Active sitei348NucleophilePROSITE-ProRule annotation1 Publication1
    Binding sitei447NADBy similarity1
    Binding sitei513SubstrateBy similarity1

    Regions

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    <p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> 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 bindingi286 – 290NADBy similarity5

    <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

    • 1-pyrroline-5-carboxylate dehydrogenase activity Source: GO_Central
    • aldehyde dehydrogenase (NAD+) activity Source: CACAO
    • electron transfer activity Source: UniProtKB
    • identical protein binding Source: IntAct

    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 functionOxidoreductase
    Biological processProline metabolism
    LigandNAD

    Enzyme and pathway databases

    BioCyc Collection of Pathway/Genome Databases

    More...
    BioCyci
    MetaCyc:HS14757-MONOMER

    BRENDA Comprehensive Enzyme Information System

    More...
    BRENDAi
    1.2.1.88, 2681

    Pathway Commons web resource for biological pathway data

    More...
    PathwayCommonsi
    P30038

    Reactome - a knowledgebase of biological pathways and processes

    More...
    Reactomei
    R-HSA-389661, Glyoxylate metabolism and glycine degradation
    R-HSA-70688, Proline catabolism

    SABIO-RK: Biochemical Reaction Kinetics Database

    More...
    SABIO-RKi
    P30038

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

    More...
    UniPathwayi
    UPA00261;UER00374

    <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%5Fand%5Ftaxonomy%5Fsection">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 dehydrogenase, mitochondrial (EC:1.2.1.88)
    Short name:
    P5C dehydrogenase
    Alternative name(s):
    Aldehyde dehydrogenase family 4 member A1
    L-glutamate gamma-semialdehyde dehydrogenase
    <p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">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:ALDH4A1
    Synonyms:ALDH4, P5CDH
    <p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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%5Fmanual">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 1

    Organism-specific databases

    Eukaryotic Pathogen Database Resources

    More...
    EuPathDBi
    HostDB:ENSG00000159423.16

    Human Gene Nomenclature Database

    More...
    HGNCi
    HGNC:406, ALDH4A1

    Online Mendelian Inheritance in Man (OMIM)

    More...
    MIMi
    606811, gene

    neXtProt; the human protein knowledge platform

    More...
    neXtProti
    NX_P30038

    <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 & Seán O’Donoghue; Source: COMPARTMENTS

    Keywords - Cellular componenti

    Mitochondrion

    <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

    Hyperprolinemia 2 (HYRPRO2)2 Publications
    The disease is caused by mutations affecting the gene represented in this entry.
    Disease descriptionAn inborn error of proline metabolism resulting in elevated plasma levels of proline and delta-1-pyrroline-5-carboxylate (P5C). The condition is considered to be benign, but affected individuals can exhibit neurological manifestations that vary in severity. Clinical signs include seizures, intellectual deficit and mild developmental delay.
    Related information in OMIM
    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_002260352S → L in HYRPRO2; allele ALDH4A1*3; loss of enzyme activity. 2 PublicationsCorresponds to variant dbSNP:rs137852937EnsemblClinVar.1

    Mutagenesis

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    <p>This subsection of the <a href="http://www.uniprot.org/manual/pathology%5Fand%5Fbiotech%5Fsection">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>Mutagenesisi352S → A: Reduced affinity for NAD. No effect on enzyme activity. 1 Publication1

    Keywords - Diseasei

    Disease mutation

    Organism-specific databases

    DisGeNET

    More...
    DisGeNETi
    8659

    MalaCards human disease database

    More...
    MalaCardsi
    ALDH4A1
    MIMi239510, phenotype

    Open Targets

    More...
    OpenTargetsi
    ENSG00000159423

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

    More...
    Orphaneti
    79101, Hyperprolinemia type 2

    The Pharmacogenetics and Pharmacogenomics Knowledge Base

    More...
    PharmGKBi
    PA24701

    Miscellaneous databases

    Pharos NIH Druggable Genome Knowledgebase

    More...
    Pharosi
    P30038, Tbio

    Chemistry databases

    ChEMBL database of bioactive drug-like small molecules

    More...
    ChEMBLi
    CHEMBL3414418

    Drug and drug target database

    More...
    DrugBanki
    DB00157, NADH

    Polymorphism and mutation databases

    BioMuta curated single-nucleotide variation and disease association database

    More...
    BioMutai
    ALDH4A1

    Domain mapping of disease mutations (DMDM)

    More...
    DMDMi
    62511241

    <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 transit peptide.<p><a href='/help/transit' target='_top'>More...</a></p>Transit peptidei1 – 24Mitochondrion1 PublicationAdd BLAST24
    <p>This subsection of the 'PTM / Processing' section describes the extent of a polypeptide chain in the mature protein following processing or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_000000717325 – 563Delta-1-pyrroline-5-carboxylate dehydrogenase, mitochondrialAdd BLAST539

    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 residuei31N6-succinyllysineBy similarity1
    Modified residuei44PhosphoserineCombined sources1
    Modified residuei52N6-acetyllysineBy similarity1
    Modified residuei93N6-acetyllysine; alternateBy similarity1
    Modified residuei93N6-succinyllysine; alternateBy similarity1
    Modified residuei99N6-acetyllysine; alternateBy similarity1
    Modified residuei99N6-succinyllysine; alternateBy similarity1
    Modified residuei114N6-acetyllysine; alternateBy similarity1
    Modified residuei114N6-succinyllysine; alternateBy similarity1
    Modified residuei130N6-acetyllysine; alternateBy similarity1
    Modified residuei130N6-succinyllysine; alternateBy similarity1
    Modified residuei175N6-acetyllysine; alternateBy similarity1
    Modified residuei175N6-succinyllysine; alternateBy similarity1
    Modified residuei318N6-acetyllysineBy similarity1
    Modified residuei347N6-succinyllysineBy similarity1
    Modified residuei365N6-acetyllysineBy similarity1
    Modified residuei376N6-acetyllysineBy similarity1
    Modified residuei395N6-succinyllysineBy similarity1
    Modified residuei462N6-acetyllysineBy similarity1
    Modified residuei509N6-acetyllysine; alternateBy similarity1
    Modified residuei509N6-succinyllysine; alternateBy similarity1
    Modified residuei531N6-acetyllysineBy similarity1
    Modified residuei552N6-acetyllysineBy similarity1

    Keywords - PTMi

    Acetylation, Phosphoprotein

    Proteomic databases

    The CPTAC Assay portal

    More...
    CPTACi
    CPTAC-165
    CPTAC-166

    Encyclopedia of Proteome Dynamics

    More...
    EPDi
    P30038

    jPOST - Japan Proteome Standard Repository/Database

    More...
    jPOSTi
    P30038

    MassIVE - Mass Spectrometry Interactive Virtual Environment

    More...
    MassIVEi
    P30038

    MaxQB - The MaxQuant DataBase

    More...
    MaxQBi
    P30038

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

    More...
    PaxDbi
    P30038

    PeptideAtlas

    More...
    PeptideAtlasi
    P30038

    PRoteomics IDEntifications database

    More...
    PRIDEi
    P30038

    ProteomicsDB: a multi-organism proteome resource

    More...
    ProteomicsDBi
    12731
    54616 [P30038-1]
    54617 [P30038-2]

    2D gel databases

    USC-OGP 2-DE database

    More...
    OGPi
    P30038

    Two-dimensional polyacrylamide gel electrophoresis database from the Geneva University Hospital

    More...
    SWISS-2DPAGEi
    P30038

    PTM databases

    CarbonylDB database of protein carbonylation sites

    More...
    CarbonylDBi
    P30038

    iPTMnet integrated resource for PTMs in systems biology context

    More...
    iPTMneti
    P30038

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

    More...
    PhosphoSitePlusi
    P30038

    <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

    <p>This subsection of the 'Expression' section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified 'at protein level'.<br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

    Highest expression is found in liver followed by skeletal muscle, kidney, heart, brain, placenta, lung and pancreas.

    Gene expression databases

    Bgee dataBase for Gene Expression Evolution

    More...
    Bgeei
    ENSG00000159423, Expressed in adult mammalian kidney and 204 other tissues

    ExpressionAtlas, Differential and Baseline Expression

    More...
    ExpressionAtlasi
    P30038, baseline and differential

    Genevisible search portal to normalized and curated expression data from Genevestigator

    More...
    Genevisiblei
    P30038, HS

    Organism-specific databases

    Human Protein Atlas

    More...
    HPAi
    ENSG00000159423, Tissue enhanced (kidney, liver)

    <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%5Fsection">'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%5Fsection">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

    Homodimer.

    1 Publication

    <p>This subsection of the '<a href="http://www.uniprot.org/help/interaction%5Fsection">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="https://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated at every <a href="http://www.uniprot.org/help/synchronization">UniProt release</a>.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

    P30038
    With#Exp.IntAct
    itself2EBI-3926971,EBI-3926971

    GO - Molecular functioni

    Protein-protein interaction databases

    The Biological General Repository for Interaction Datasets (BioGRID)

    More...
    BioGRIDi
    114208, 50 interactors

    Protein interaction database and analysis system

    More...
    IntActi
    P30038, 7 interactors

    STRING: functional protein association networks

    More...
    STRINGi
    9606.ENSP00000364490

    Miscellaneous databases

    RNAct, Protein-RNA interaction predictions for model organisms.

    More...
    RNActi
    P30038, protein

    <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

    1563
    Legend: HelixTurnBeta strandPDB Structure known for this area
    Show more details

    3D structure databases

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

    More...
    SMRi
    P30038

    Database of comparative protein structure models

    More...
    ModBasei
    Search...

    Protein Data Bank in Europe - Knowledge Base

    More...
    PDBe-KBi
    Search...

    <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

    <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

    Belongs to the aldehyde dehydrogenase family.Curated

    Keywords - Domaini

    Transit peptide

    Phylogenomic databases

    evolutionary genealogy of genes: Non-supervised Orthologous Groups

    More...
    eggNOGi
    KOG2455, Eukaryota

    Ensembl GeneTree

    More...
    GeneTreei
    ENSGT00560000077335

    The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

    More...
    HOGENOMi
    CLU_005391_4_1_1

    InParanoid: Eukaryotic Ortholog Groups

    More...
    InParanoidi
    P30038

    KEGG Orthology (KO)

    More...
    KOi
    K00294

    Identification of Orthologs from Complete Genome Data

    More...
    OMAi
    FAGIHFT

    Database for complete collections of gene phylogenies

    More...
    PhylomeDBi
    P30038

    TreeFam database of animal gene trees

    More...
    TreeFami
    TF300481

    Family and domain databases

    Conserved Domains Database

    More...
    CDDi
    cd07123, ALDH_F4-17_P5CDH, 1 hit

    Gene3D Structural and Functional Annotation of Protein Families

    More...
    Gene3Di
    3.40.309.10, 1 hit
    3.40.605.10, 1 hit

    Integrated resource of protein families, domains and functional sites

    More...
    InterProi
    View protein in InterPro
    IPR016161, Ald_DH/histidinol_DH
    IPR016163, Ald_DH_C
    IPR016160, Ald_DH_CS_CYS
    IPR029510, Ald_DH_CS_GLU
    IPR016162, Ald_DH_N
    IPR015590, Aldehyde_DH_dom
    IPR005931, P5CDH/ALDH4A1

    Pfam protein domain database

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

    Superfamily database of structural and functional annotation

    More...
    SUPFAMi
    SSF53720, SSF53720, 1 hit

    TIGRFAMs; a protein family database

    More...
    TIGRFAMsi
    TIGR01236, D1pyr5carbox1, 1 hit

    PROSITE; a protein domain and family database

    More...
    PROSITEi
    View protein in PROSITE
    PS00070, ALDEHYDE_DEHYDR_CYS, 1 hit
    PS00687, ALDEHYDE_DEHYDR_GLU, 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%5Flength">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (3+)i

    <p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">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.

    <p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is in its mature form or if it represents the precursor.<p><a href='/help/sequence_processing' target='_top'>More...</a></p>Sequence processingi: The displayed sequence is further processed into a mature form.

    This entry describes 3 <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. This section is only present in reviewed entries, i.e. in UniProtKB/Swiss-Prot.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

    This entry has 3 described isoforms and 1 potential isoform that is computationally mapped.Show allAlign All

    Isoform 1 (identifier: P30038-1) [UniParc]FASTAAdd to basket

    This isoform has been chosen as the <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

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    MLLPAPALRR ALLSRPWTGA GLRWKHTSSL KVANEPVLAF TQGSPERDAL
    60 70 80 90 100
    QKALKDLKGR MEAIPCVVGD EEVWTSDVQY QVSPFNHGHK VAKFCYADKS
    110 120 130 140 150
    LLNKAIEAAL AARKEWDLKP IADRAQIFLK AADMLSGPRR AEILAKTMVG
    160 170 180 190 200
    QGKTVIQAEI DAAAELIDFF RFNAKYAVEL EGQQPISVPP STNSTVYRGL
    210 220 230 240 250
    EGFVAAISPF NFTAIGGNLA GAPALMGNVV LWKPSDTAML ASYAVYRILR
    260 270 280 290 300
    EAGLPPNIIQ FVPADGPLFG DTVTSSEHLC GINFTGSVPT FKHLWKQVAQ
    310 320 330 340 350
    NLDRFHTFPR LAGECGGKNF HFVHRSADVE SVVSGTLRSA FEYGGQKCSA
    360 370 380 390 400
    CSRLYVPHSL WPQIKGRLLE EHSRIKVGDP AEDFGTFFSA VIDAKSFARI
    410 420 430 440 450
    KKWLEHARSS PSLTILAGGK CDDSVGYFVE PCIVESKDPQ EPIMKEEIFG
    460 470 480 490 500
    PVLSVYVYPD DKYKETLQLV DSTTSYGLTG AVFSQDKDVV QEATKVLRNA
    510 520 530 540 550
    AGNFYINDKS TGSIVGQQPF GGARASGTND KPGGPHYILR WTSPQVIKET
    560
    HKPLGDWSYA YMQ
    Length:563
    Mass (Da):61,719
    Last modified:February 1, 2005 - v3
    <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:i4D964771B7DB5FFD
    GO
    Isoform 2 (identifier: P30038-2) [UniParc]FASTAAdd to basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-60: Missing.

    Show »
    Length:503
    Mass (Da):55,118
    Checksum:i51F7786045941395
    GO
    Isoform 3 (identifier: P30038-3) [UniParc]FASTAAdd to basket

    The sequence of this isoform differs from the canonical sequence as follows:
         396-446: Missing.

    Show »
    Length:512
    Mass (Da):56,043
    Checksum:i1AA9C976895301FE
    GO

    <p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

    There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basket
    EntryEntry nameProtein names
    Gene namesLengthAnnotation
    Q5TF55Q5TF55_HUMAN
    Delta-1-pyrroline-5-carboxylate deh...
    ALDH4A1
    214Annotation score:

    Annotation score:1 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 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 conflicti68V → M in AAC50501 (PubMed:8621661).Curated1
    Sequence conflicti68V → M in AAC50500 (PubMed:8621661).Curated1
    Sequence conflicti189 – 191PPS → LPY AA sequence (PubMed:8493898).Curated3
    Sequence conflicti189P → L AA sequence (PubMed:1395511).Curated1
    Sequence conflicti226M → I in BAD96206 (Ref. 4) Curated1
    Sequence conflicti271D → E AA sequence (PubMed:1395511).Curated1
    Sequence conflicti271D → E AA sequence (PubMed:8493898).Curated1
    Sequence conflicti354L → K AA sequence (PubMed:8493898).Curated1
    Sequence conflicti376K → R in BAD96206 (Ref. 4) Curated1
    Sequence conflicti524 – 526RAS → GSA AA sequence (PubMed:8493898).Curated3

    Natural variant

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    Natural variantiVAR_00225916P → L in allele ALDH4A1*4. 1 PublicationCorresponds to variant dbSNP:rs146450609EnsemblClinVar.1
    Natural variantiVAR_002260352S → L in HYRPRO2; allele ALDH4A1*3; loss of enzyme activity. 2 PublicationsCorresponds to variant dbSNP:rs137852937EnsemblClinVar.1
    Natural variantiVAR_029337470V → I2 PublicationsCorresponds to variant dbSNP:rs2230709EnsemblClinVar.1
    Natural variantiVAR_048903473T → A. Corresponds to variant dbSNP:rs6695033EnsemblClinVar.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.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_0437851 – 60Missing in isoform 2. 1 PublicationAdd BLAST60
    Alternative sequenceiVSP_047732396 – 446Missing in isoform 3. 1 PublicationAdd BLAST51

    Sequence databases

    Select the link destinations:

    EMBL nucleotide sequence database

    More...
    EMBLi

    GenBank nucleotide sequence database

    More...
    GenBanki

    DNA Data Bank of Japan; a nucleotide sequence database

    More...
    DDBJi
    Links Updated
    U24267 mRNA Translation: AAC50501.1
    U24266 mRNA Translation: AAC50500.1
    FJ462711 mRNA Translation: ACN89883.1
    AK289972 mRNA Translation: BAF82661.1
    AK294552 mRNA Translation: BAG57755.1
    AK222486 mRNA Translation: BAD96206.1
    AL080251 Genomic DNA No translation available.
    AL954340 Genomic DNA No translation available.
    BX537160 Genomic DNA No translation available.
    CH471134 Genomic DNA Translation: EAW94858.1
    BC007581 mRNA Translation: AAH07581.1
    BC023600 mRNA Translation: AAH23600.1

    The Consensus CDS (CCDS) project

    More...
    CCDSi
    CCDS188.1 [P30038-1]
    CCDS53272.1 [P30038-2]
    CCDS81273.1 [P30038-3]

    NCBI Reference Sequences

    More...
    RefSeqi
    NP_001154976.1, NM_001161504.1 [P30038-2]
    NP_001306147.1, NM_001319218.1 [P30038-3]
    NP_003739.2, NM_003748.3 [P30038-1]
    NP_733844.1, NM_170726.2 [P30038-1]

    Genome annotation databases

    Ensembl eukaryotic genome annotation project

    More...
    Ensembli
    ENST00000290597; ENSP00000290597; ENSG00000159423 [P30038-1]
    ENST00000375341; ENSP00000364490; ENSG00000159423 [P30038-1]
    ENST00000538309; ENSP00000442988; ENSG00000159423 [P30038-2]
    ENST00000538839; ENSP00000446071; ENSG00000159423 [P30038-3]

    Database of genes from NCBI RefSeq genomes

    More...
    GeneIDi
    8659

    KEGG: Kyoto Encyclopedia of Genes and Genomes

    More...
    KEGGi
    hsa:8659

    UCSC genome browser

    More...
    UCSCi
    uc001bbb.4, human [P30038-1]

    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
    U24267 mRNA Translation: AAC50501.1
    U24266 mRNA Translation: AAC50500.1
    FJ462711 mRNA Translation: ACN89883.1
    AK289972 mRNA Translation: BAF82661.1
    AK294552 mRNA Translation: BAG57755.1
    AK222486 mRNA Translation: BAD96206.1
    AL080251 Genomic DNA No translation available.
    AL954340 Genomic DNA No translation available.
    BX537160 Genomic DNA No translation available.
    CH471134 Genomic DNA Translation: EAW94858.1
    BC007581 mRNA Translation: AAH07581.1
    BC023600 mRNA Translation: AAH23600.1
    CCDSiCCDS188.1 [P30038-1]
    CCDS53272.1 [P30038-2]
    CCDS81273.1 [P30038-3]
    RefSeqiNP_001154976.1, NM_001161504.1 [P30038-2]
    NP_001306147.1, NM_001319218.1 [P30038-3]
    NP_003739.2, NM_003748.3 [P30038-1]
    NP_733844.1, NM_170726.2 [P30038-1]

    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
    3V9GX-ray2.50A/B/C/D18-563[»]
    3V9HX-ray2.40A/B/C/D18-563[»]
    3V9IX-ray2.85A/B/C/D18-563[»]
    4OE5X-ray1.95A/B/C/D18-563[»]
    SMRiP30038
    ModBaseiSearch...
    PDBe-KBiSearch...

    Protein-protein interaction databases

    BioGRIDi114208, 50 interactors
    IntActiP30038, 7 interactors
    STRINGi9606.ENSP00000364490

    Chemistry databases

    ChEMBLiCHEMBL3414418
    DrugBankiDB00157, NADH

    PTM databases

    CarbonylDBiP30038
    iPTMnetiP30038
    PhosphoSitePlusiP30038

    Polymorphism and mutation databases

    BioMutaiALDH4A1
    DMDMi62511241

    2D gel databases

    OGPiP30038
    SWISS-2DPAGEiP30038

    Proteomic databases

    CPTACiCPTAC-165
    CPTAC-166
    EPDiP30038
    jPOSTiP30038
    MassIVEiP30038
    MaxQBiP30038
    PaxDbiP30038
    PeptideAtlasiP30038
    PRIDEiP30038
    ProteomicsDBi12731
    54616 [P30038-1]
    54617 [P30038-2]

    Protocols and materials databases

    Antibodypedia a portal for validated antibodies

    More...
    Antibodypediai
    1590, 281 antibodies

    The DNASU plasmid repository

    More...
    DNASUi
    8659

    Genome annotation databases

    EnsembliENST00000290597; ENSP00000290597; ENSG00000159423 [P30038-1]
    ENST00000375341; ENSP00000364490; ENSG00000159423 [P30038-1]
    ENST00000538309; ENSP00000442988; ENSG00000159423 [P30038-2]
    ENST00000538839; ENSP00000446071; ENSG00000159423 [P30038-3]
    GeneIDi8659
    KEGGihsa:8659
    UCSCiuc001bbb.4, human [P30038-1]

    Organism-specific databases

    Comparative Toxicogenomics Database

    More...
    CTDi
    8659
    DisGeNETi8659
    EuPathDBiHostDB:ENSG00000159423.16

    GeneCards: human genes, protein and diseases

    More...
    GeneCardsi
    ALDH4A1
    HGNCiHGNC:406, ALDH4A1
    HPAiENSG00000159423, Tissue enhanced (kidney, liver)
    MalaCardsiALDH4A1
    MIMi239510, phenotype
    606811, gene
    neXtProtiNX_P30038
    OpenTargetsiENSG00000159423
    Orphaneti79101, Hyperprolinemia type 2
    PharmGKBiPA24701

    GenAtlas: human gene database

    More...
    GenAtlasi
    Search...

    Phylogenomic databases

    eggNOGiKOG2455, Eukaryota
    GeneTreeiENSGT00560000077335
    HOGENOMiCLU_005391_4_1_1
    InParanoidiP30038
    KOiK00294
    OMAiFAGIHFT
    PhylomeDBiP30038
    TreeFamiTF300481

    Enzyme and pathway databases

    UniPathwayiUPA00261;UER00374
    BioCyciMetaCyc:HS14757-MONOMER
    BRENDAi1.2.1.88, 2681
    PathwayCommonsiP30038
    ReactomeiR-HSA-389661, Glyoxylate metabolism and glycine degradation
    R-HSA-70688, Proline catabolism
    SABIO-RKiP30038

    Miscellaneous databases

    BioGRID ORCS database of CRISPR phenotype screens

    More...
    BioGRID-ORCSi
    8659, 4 hits in 872 CRISPR screens

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

    More...
    ChiTaRSi
    ALDH4A1, human

    The Gene Wiki collection of pages on human genes and proteins

    More...
    GeneWikii
    Aldehyde_dehydrogenase_4_family,_member_A1

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

    More...
    GenomeRNAii
    8659
    PharosiP30038, Tbio

    Protein Ontology

    More...
    PROi
    PR:P30038
    RNActiP30038, protein

    The Stanford Online Universal Resource for Clones and ESTs

    More...
    SOURCEi
    Search...

    Gene expression databases

    BgeeiENSG00000159423, Expressed in adult mammalian kidney and 204 other tissues
    ExpressionAtlasiP30038, baseline and differential
    GenevisibleiP30038, HS

    Family and domain databases

    CDDicd07123, ALDH_F4-17_P5CDH, 1 hit
    Gene3Di3.40.309.10, 1 hit
    3.40.605.10, 1 hit
    InterProiView protein in InterPro
    IPR016161, Ald_DH/histidinol_DH
    IPR016163, Ald_DH_C
    IPR016160, Ald_DH_CS_CYS
    IPR029510, Ald_DH_CS_GLU
    IPR016162, Ald_DH_N
    IPR015590, Aldehyde_DH_dom
    IPR005931, P5CDH/ALDH4A1
    PfamiView protein in Pfam
    PF00171, Aldedh, 1 hit
    SUPFAMiSSF53720, SSF53720, 1 hit
    TIGRFAMsiTIGR01236, D1pyr5carbox1, 1 hit
    PROSITEiView protein in PROSITE
    PS00070, ALDEHYDE_DEHYDR_CYS, 1 hit
    PS00687, ALDEHYDE_DEHYDR_GLU, 1 hit

    ProtoNet; Automatic hierarchical classification of proteins

    More...
    ProtoNeti
    Search...

    MobiDB: a database of protein disorder and mobility annotations

    More...
    MobiDBi
    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 nameiAL4A1_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: P30038
    Secondary accession number(s): A8K1Q7
    , B4DGE4, D2D4A3, Q16882, Q53HU4, Q5JNV6, Q8IZ38, Q96IF0, Q9UDI6
    <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%5Fand%5Fisoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: April 1, 1993
    Last sequence update: February 1, 2005
    Last modified: October 7, 2020
    This is version 206 of the entry and version 3 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, Direct protein sequencing, Reference proteome

    Documents

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