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Entry version 211 (29 Sep 2021)
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_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 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_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 degradation into L-glutamate

This protein is involved in step 2 of the subpathway that synthesizes L-glutamate from L-proline.1 Publication 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_section">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_section">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_section">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

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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_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 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_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:ALDH4A1
Synonyms:ALDH4, P5CDH
<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 1

Organism-specific databases

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

Eukaryotic Pathogen, Vector and Host Database Resources

More...
VEuPathDBi
HostDB:ENSG00000159423

<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

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 variants 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_and_biotech_section">'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 variant

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

Genetic variation 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

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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

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

2D gel databases

USC-OGP 2-DE database

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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

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CarbonylDBi
P30038

GlyGen: Computational and Informatics Resources for Glycoscience

More...
GlyGeni
P30038, 1 site, 1 O-linked glycan (1 site)

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 205 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_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

Homodimer.

1 Publication

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction_section">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

Hide details

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

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BioGRIDi
114208, 66 interactors

Protein interaction database and analysis system

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IntActi
P30038, 8 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

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SMRi
P30038

Database of comparative protein structure models

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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

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eggNOGi
KOG2455, Eukaryota

Ensembl GeneTree

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GeneTreei
ENSGT00560000077335

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

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HOGENOMi
CLU_005391_4_1_1

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
P30038

Identification of Orthologs from Complete Genome Data

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OMAi
FAGIHFT

Database for complete collections of gene phylogenies

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PhylomeDBi
P30038

TreeFam database of animal gene trees

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TreeFami
TF300481

Family and domain databases

Conserved Domains Database

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CDDi
cd07123, ALDH_F4-17_P5CDH, 1 hit

Gene3D Structural and Functional Annotation of Protein Families

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Gene3Di
3.40.309.10, 1 hit
3.40.605.10, 1 hit

Integrated resource of protein families, domains and functional sites

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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

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Pfami
View protein in Pfam
PF00171, Aldedh, 1 hit

Superfamily database of structural and functional annotation

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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_length">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_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.

<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 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.<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.

« Hide
        10         20         30         40         50
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

<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, 66 interactors
IntActiP30038, 8 interactors
STRINGi9606.ENSP00000364490

Chemistry databases

ChEMBLiCHEMBL3414418
DrugBankiDB00157, NADH

PTM databases

CarbonylDBiP30038
GlyGeniP30038, 1 site, 1 O-linked glycan (1 site)
iPTMnetiP30038
PhosphoSitePlusiP30038

Genetic variation 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, 316 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

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
VEuPathDBiHostDB:ENSG00000159423

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG2455, Eukaryota
GeneTreeiENSGT00560000077335
HOGENOMiCLU_005391_4_1_1
InParanoidiP30038
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 1018 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 205 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

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_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: April 1, 1993
Last sequence update: February 1, 2005
Last modified: September 29, 2021
This is version 211 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 chromosome 1
    Human chromosome 1: entries, gene names and cross-references to MIM
  2. Human entries with genetic variants
    List of human entries with genetic variants
  3. Human variants curated from literature reports
    Index of human variants curated from literature reports
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PATHWAY comments
    Index of metabolic and biosynthesis pathways
  6. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  7. SIMILARITY comments
    Index of protein domains and families
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