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Entry version 195 (31 Jul 2019)
Sequence version 5 (20 Apr 2010)
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Protein

Alpha-aminoadipic semialdehyde dehydrogenase

Gene

ALDH7A1

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

Multifunctional enzyme mediating important protective effects. Metabolizes betaine aldehyde to betaine, an important cellular osmolyte and methyl donor. Protects cells from oxidative stress by metabolizing a number of lipid peroxidation-derived aldehydes. Involved in lysine catabolism.2 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 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=28.5 µM for nonanal1 Publication
  2. KM=5.3 µM for trans-2-nonenal1 Publication
  3. KM=39.1 µM for hexanal1 Publication
  4. KM=17.5 µM for octanal1 Publication
  5. KM=41.1 µM for betaine aldehyde1 Publication
  6. KM=169 µM for L-2-aminoadipate 6-semialdehyde1 Publication
  7. KM=530.2 µM for benzaldehyde1 Publication
  8. KM=647.4 µM for propanal1 Publication
  9. KM=7374.3 µM for glyceraldehyde1 Publication
  1. Vmax=364.9 nmol/min/mg enzyme toward nonanal1 Publication
  2. Vmax=34.9 nmol/min/mg enzyme toward trans-2-nonenal1 Publication
  3. Vmax=243.3 nmol/min/mg enzyme toward hexanal1 Publication
  4. Vmax=72.3 nmol/min/mg enzyme toward octanal1 Publication
  5. Vmax=101.4 nmol/min/mg enzyme toward betaine aldehyde1 Publication
  6. Vmax=276.2 nmol/min/mg enzyme toward L-2-aminoadipate 6-semialdehyde1 Publication
  7. Vmax=125.2 nmol/min/mg enzyme toward benzaldehyde1 Publication
  8. Vmax=69.9 nmol/min/mg enzyme toward propanal1 Publication
  9. Vmax=174 nmol/min/mg enzyme toward glyceraldehyde1 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: betaine biosynthesis via choline pathway

This protein is involved in step 1 of the subpathway that synthesizes betaine from betaine aldehyde.
Proteins known to be involved in this subpathway in this organism are:
  1. Alpha-aminoadipic semialdehyde dehydrogenase (ALDH7A1)
This subpathway is part of the pathway betaine biosynthesis via choline pathway, which is itself part of Amine and polyamine biosynthesis.
View all proteins of this organism that are known to be involved in the subpathway that synthesizes betaine from betaine aldehyde, the pathway betaine biosynthesis via choline pathway and in Amine and polyamine biosynthesis.

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<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>Sitei195Transition state stabilizerBy 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 sitei296Proton acceptorPROSITE-ProRule annotation1
Active sitei330Nucleophile1

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 bindingi274 – 279NADBy similarity6

<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 functionOxidoreductase
LigandNAD

Enzyme and pathway databases

BioCyc Collection of Pathway/Genome Databases

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BioCyci
MetaCyc:HS09157-MONOMER

BRENDA Comprehensive Enzyme Information System

More...
BRENDAi
1.2.1.31 2681

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-6798163 Choline catabolism
R-HSA-71064 Lysine catabolism

SABIO-RK: Biochemical Reaction Kinetics Database

More...
SABIO-RKi
P49419

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

More...
UniPathwayi
UPA00529;UER00386

Protein family/group databases

UniLectin database of carbohydrate-binding proteins

More...
UniLectini
P49419

<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:
Alpha-aminoadipic semialdehyde dehydrogenase (EC:1.2.1.31)
Short name:
Alpha-AASA dehydrogenase
Alternative name(s):
Aldehyde dehydrogenase family 7 member A1 (EC:1.2.1.3)
Antiquitin-1
Betaine aldehyde dehydrogenase (EC:1.2.1.8)
Delta1-piperideine-6-carboxylate dehydrogenase
Short name:
P6c 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:ALDH7A1
Synonyms:ATQ1
<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 5

Organism-specific databases

Human Gene Nomenclature Database

More...
HGNCi
HGNC:877 ALDH7A1

Online Mendelian Inheritance in Man (OMIM)

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MIMi
107323 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_P49419

<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

Cytoplasm, Mitochondrion, Nucleus

<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

Pyridoxine-dependent epilepsy (PDE)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionCharacterized by a combination of various seizure types. It usually occurs in the first hours of life and is unresponsive to standard anticonvulsants, responding only to immediate administration of pyridoxine hydrochloride.
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_031718199A → V in PDE. 1 PublicationCorresponds to variant dbSNP:rs121912709EnsemblClinVar.1
Natural variantiVAR_069184202G → V in PDE. 1 Publication1
Natural variantiVAR_069185291G → E in PDE. 1 Publication1
Natural variantiVAR_069186301N → I in PDE. 1 PublicationCorresponds to variant dbSNP:rs121912711EnsemblClinVar.1
Natural variantiVAR_069187335R → Q in PDE. 1 PublicationCorresponds to variant dbSNP:rs754449549EnsemblClinVar.1
Natural variantiVAR_069188395V → G in PDE. 1 Publication1
Natural variantiVAR_031719427E → Q in PDE. 2 PublicationsCorresponds to variant dbSNP:rs121912707EnsemblClinVar.1
Natural variantiVAR_069189458S → N in PDE. 1 Publication1

Keywords - Diseasei

Disease mutation, Epilepsy

Organism-specific databases

DisGeNET

More...
DisGeNETi
501

GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

More...
GeneReviewsi
ALDH7A1

MalaCards human disease database

More...
MalaCardsi
ALDH7A1
MIMi266100 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000164904

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

More...
Orphaneti
3006 Pyridoxine-dependent epilepsy

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA24704

Chemistry databases

Drug and drug target database

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DrugBanki
DB00157 NADH

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
ALDH7A1

Domain mapping of disease mutations (DMDM)

More...
DMDMi
294862544

<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 – 26MitochondrionSequence analysisAdd BLAST26
<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_000005649027 – 539Alpha-aminoadipic semialdehyde dehydrogenaseAdd BLAST513
Isoform 2 (identifier: P49419-2)
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section indicates that the initiator methionine is cleaved from the mature protein.<p><a href='/help/init_met' target='_top'>More...</a></p>Initiator methionineiRemovedCombined sources

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 residuei94N6-acetyllysine; alternateBy similarity1
Modified residuei94N6-succinyllysine; alternateBy similarity1
Modified residuei462N6-acetyllysineBy similarity1
Modified residuei500N6-acetyllysineBy similarity1
Modified residuei537N6-succinyllysineBy similarity1
Isoform 2 (identifier: P49419-2)
Modified residuei2N-acetylserineCombined sources1

Keywords - PTMi

Acetylation

Proteomic databases

The CPTAC Assay portal

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CPTACi
CPTAC-15
CPTAC-16

Encyclopedia of Proteome Dynamics

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EPDi
P49419

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
P49419

MaxQB - The MaxQuant DataBase

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MaxQBi
P49419

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

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PaxDbi
P49419

PeptideAtlas

More...
PeptideAtlasi
P49419

PRoteomics IDEntifications database

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PRIDEi
P49419

ProteomicsDB human proteome resource

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ProteomicsDBi
17435
56006 [P49419-1]
56007 [P49419-2]

2D gel databases

University College Dublin 2-DE Proteome Database

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UCD-2DPAGEi
P49419

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

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iPTMneti
P49419

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

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PhosphoSitePlusi
P49419

SwissPalm database of S-palmitoylation events

More...
SwissPalmi
P49419

<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

Abundant in hepatoma cells and fetal cochlea, ovary, eye, heart, adrenal gland, liver and kidney. Low levels present in adult peripheral blood leukocytes and fetal brain, thymus, spleen, skeletal muscle, lung and tongue.2 Publications

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000164904 Expressed in 210 organ(s), highest expression level in right ovary

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
P49419 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
P49419 HS

Organism-specific databases

Human Protein Atlas

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HPAi
HPA023296

<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

Homotetramer.

By similarity

<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

WithEntry#Exp.IntActNotes
EPS8Q129292EBI-726842,EBI-375576

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
106990, 44 interactors

Protein interaction database and analysis system

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IntActi
P49419, 18 interactors

Molecular INTeraction database

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MINTi
P49419

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000387123

<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

1539
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
P49419

Database of comparative protein structure models

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ModBasei
Search...

Miscellaneous databases

Relative evolutionary importance of amino acids within a protein sequence

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EvolutionaryTracei
P49419

<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
KOG2453 Eukaryota
COG1012 LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00940000154938

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

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HOGENOMi
HOG000271511

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
P49419

KEGG Orthology (KO)

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KOi
K14085

Database of Orthologous Groups

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OrthoDBi
692580at2759

Database for complete collections of gene phylogenies

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PhylomeDBi
P49419

TreeFam database of animal gene trees

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TreeFami
TF300388

Family and domain databases

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
IPR029510 Ald_DH_CS_GLU
IPR016162 Ald_DH_N
IPR015590 Aldehyde_DH_dom

Pfam protein domain database

More...
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

PROSITE; a protein domain and family database

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PROSITEi
View protein in PROSITE
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 17 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: P49419-1) [UniParc]FASTAAdd to basket
Also known as: hALDH7A1_v11 Publication

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
MWRLPRALCV HAAKTSKLSG PWSRPAAFMS TLLINQPQYA WLKELGLREE
60 70 80 90 100
NEGVYNGSWG GRGEVITTYC PANNEPIARV RQASVADYEE TVKKAREAWK
110 120 130 140 150
IWADIPAPKR GEIVRQIGDA LREKIQVLGS LVSLEMGKIL VEGVGEVQEY
160 170 180 190 200
VDICDYAVGL SRMIGGPILP SERSGHALIE QWNPVGLVGI ITAFNFPVAV
210 220 230 240 250
YGWNNAIAMI CGNVCLWKGA PTTSLISVAV TKIIAKVLED NKLPGAICSL
260 270 280 290 300
TCGGADIGTA MAKDERVNLL SFTGSTQVGK QVGLMVQERF GRSLLELGGN
310 320 330 340 350
NAIIAFEDAD LSLVVPSALF AAVGTAGQRC TTARRLFIHE SIHDEVVNRL
360 370 380 390 400
KKAYAQIRVG NPWDPNVLYG PLHTKQAVSM FLGAVEEAKK EGGTVVYGGK
410 420 430 440 450
VMDRPGNYVE PTIVTGLGHD ASIAHTETFA PILYVFKFKN EEEVFAWNNE
460 470 480 490 500
VKQGLSSSIF TKDLGRIFRW LGPKGSDCGI VNVNIPTSGA EIGGAFGGEK
510 520 530
HTGGGRESGS DAWKQYMRRS TCTINYSKDL PLAQGIKFQ
Length:539
Mass (Da):58,487
Last modified:April 20, 2010 - v5
<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:i05385562F71312B6
GO
Isoform 2 (identifier: P49419-2) [UniParc]FASTAAdd to basket
Also known as: hALDH7A1_v21 Publication

The sequence of this isoform differs from the canonical sequence as follows:
     1-28: Missing.

Show »
Length:511
Mass (Da):55,366
Checksum:i08F6F7672C948E2C
GO
Isoform 4 (identifier: P49419-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     337-400: Missing.

Note: No experimental confirmation available.
Show »
Length:475
Mass (Da):51,411
Checksum:i6CE7B327556B0A90
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 are 17 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A0A1B0GW77A0A1B0GW77_HUMAN
Alpha-aminoadipic semialdehyde dehy...
ALDH7A1
554Annotation score:

Annotation score:2 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>
A0A1B0GTJ4A0A1B0GTJ4_HUMAN
Alpha-aminoadipic semialdehyde dehy...
ALDH7A1
499Annotation score:

Annotation score:2 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>
A0A1B0GW82A0A1B0GW82_HUMAN
Alpha-aminoadipic semialdehyde dehy...
ALDH7A1
545Annotation score:

Annotation score:2 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>
A0A1B0GV49A0A1B0GV49_HUMAN
Alpha-aminoadipic semialdehyde dehy...
ALDH7A1
472Annotation score:

Annotation score:2 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>
A0A1B0GUA1A0A1B0GUA1_HUMAN
Alpha-aminoadipic semialdehyde dehy...
ALDH7A1
521Annotation score:

Annotation score:2 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>
A0A1B0GTG2A0A1B0GTG2_HUMAN
Alpha-aminoadipic semialdehyde dehy...
ALDH7A1
536Annotation 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>
A0A1B0GUY0A0A1B0GUY0_HUMAN
Alpha-aminoadipic semialdehyde dehy...
ALDH7A1
348Annotation 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>
F8WDY6F8WDY6_HUMAN
Alpha-aminoadipic semialdehyde dehy...
ALDH7A1
136Annotation 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>
F8VVF2F8VVF2_HUMAN
Alpha-aminoadipic semialdehyde dehy...
ALDH7A1
193Annotation 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>
H0YHM6H0YHM6_HUMAN
Alpha-aminoadipic semialdehyde dehy...
ALDH7A1
239Annotation 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>
There are more potential isoformsShow all

<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 AAC51935 differs from that shown. Reason: Frameshift at positions 233 and 268.Curated
The sequence AAH02515 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated
The sequence AAH71712 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated
The sequence AAH73174 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated
The sequence BAG35366 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated
The sequence BAG58439 differs from that shown. Aberrant splicing.Curated
The sequence BAG59812 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.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 conflicti236K → R in BAG59812 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_031718199A → V in PDE. 1 PublicationCorresponds to variant dbSNP:rs121912709EnsemblClinVar.1
Natural variantiVAR_069184202G → V in PDE. 1 Publication1
Natural variantiVAR_069185291G → E in PDE. 1 Publication1
Natural variantiVAR_069186301N → I in PDE. 1 PublicationCorresponds to variant dbSNP:rs121912711EnsemblClinVar.1
Natural variantiVAR_069187335R → Q in PDE. 1 PublicationCorresponds to variant dbSNP:rs754449549EnsemblClinVar.1
Natural variantiVAR_069188395V → G in PDE. 1 Publication1
Natural variantiVAR_028202412T → A. Corresponds to variant dbSNP:rs2306618EnsemblClinVar.1
Natural variantiVAR_031719427E → Q in PDE. 2 PublicationsCorresponds to variant dbSNP:rs121912707EnsemblClinVar.1
Natural variantiVAR_028203439K → Q1 PublicationCorresponds to variant dbSNP:rs12514417EnsemblClinVar.1
Natural variantiVAR_069189458S → N in PDE. 1 Publication1

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_0389871 – 28Missing in isoform 2. 1 PublicationAdd BLAST28
Alternative sequenceiVSP_045905337 – 400Missing in isoform 4. 1 PublicationAdd BLAST64

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
S74728 mRNA Translation: AAB31966.1
AK312459 mRNA Translation: BAG35366.1 Different initiation.
AK295526 mRNA Translation: BAG58439.1 Sequence problems.
AK297365 mRNA Translation: BAG59812.1 Different initiation.
AC093535 Genomic DNA No translation available.
AC099513 Genomic DNA No translation available.
BC002515 mRNA Translation: AAH02515.3 Different initiation.
BC071712 mRNA Translation: AAH71712.1 Different initiation.
BC073174 mRNA Translation: AAH73174.1 Different initiation.
AF002696 Genomic DNA Translation: AAC51935.1 Sequence problems.

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS4137.2 [P49419-1]
CCDS56380.2 [P49419-4]

Protein sequence database of the Protein Information Resource

More...
PIRi
A54676

NCBI Reference Sequences

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RefSeqi
NP_001173.2, NM_001182.4 [P49419-1]
NP_001188306.1, NM_001201377.1 [P49419-2]
NP_001189333.2, NM_001202404.1 [P49419-4]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000409134; ENSP00000387123; ENSG00000164904 [P49419-1]
ENST00000553117; ENSP00000448593; ENSG00000164904 [P49419-4]

Database of genes from NCBI RefSeq genomes

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GeneIDi
501

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:501

UCSC genome browser

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UCSCi
uc003ktx.5 human [P49419-1]

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
S74728 mRNA Translation: AAB31966.1
AK312459 mRNA Translation: BAG35366.1 Different initiation.
AK295526 mRNA Translation: BAG58439.1 Sequence problems.
AK297365 mRNA Translation: BAG59812.1 Different initiation.
AC093535 Genomic DNA No translation available.
AC099513 Genomic DNA No translation available.
BC002515 mRNA Translation: AAH02515.3 Different initiation.
BC071712 mRNA Translation: AAH71712.1 Different initiation.
BC073174 mRNA Translation: AAH73174.1 Different initiation.
AF002696 Genomic DNA Translation: AAC51935.1 Sequence problems.
CCDSiCCDS4137.2 [P49419-1]
CCDS56380.2 [P49419-4]
PIRiA54676
RefSeqiNP_001173.2, NM_001182.4 [P49419-1]
NP_001188306.1, NM_001201377.1 [P49419-2]
NP_001189333.2, NM_001202404.1 [P49419-4]

3D structure databases

Select the link destinations:

Protein Data Bank Europe

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PDBei

Protein Data Bank RCSB

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RCSB PDBi

Protein Data Bank Japan

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PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2J6LX-ray1.30A/B/C/D/E/F/G/H30-527[»]
4X0TX-ray2.40A/B/C/D29-539[»]
4X0UX-ray1.95A/B/C/D29-539[»]
4ZUKX-ray2.00A/B/C/D/E/F/G/H29-539[»]
4ZULX-ray1.76A/B/C/D/E/F/G/H29-539[»]
4ZVWX-ray2.40A/B/C/D/E/F/G/H29-539[»]
4ZVXX-ray1.90A/B29-539[»]
4ZVYX-ray1.90A/B29-539[»]
SMRiP49419
ModBaseiSearch...

Protein-protein interaction databases

BioGridi106990, 44 interactors
IntActiP49419, 18 interactors
MINTiP49419
STRINGi9606.ENSP00000387123

Chemistry databases

DrugBankiDB00157 NADH

Protein family/group databases

UniLectiniP49419

PTM databases

iPTMnetiP49419
PhosphoSitePlusiP49419
SwissPalmiP49419

Polymorphism and mutation databases

BioMutaiALDH7A1
DMDMi294862544

2D gel databases

UCD-2DPAGEiP49419

Proteomic databases

CPTACiCPTAC-15
CPTAC-16
EPDiP49419
jPOSTiP49419
MaxQBiP49419
PaxDbiP49419
PeptideAtlasiP49419
PRIDEiP49419
ProteomicsDBi17435
56006 [P49419-1]
56007 [P49419-2]

Protocols and materials databases

The DNASU plasmid repository

More...
DNASUi
501
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000409134; ENSP00000387123; ENSG00000164904 [P49419-1]
ENST00000553117; ENSP00000448593; ENSG00000164904 [P49419-4]
GeneIDi501
KEGGihsa:501
UCSCiuc003ktx.5 human [P49419-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
501
DisGeNETi501

GeneCards: human genes, protein and diseases

More...
GeneCardsi
ALDH7A1
GeneReviewsiALDH7A1
HGNCiHGNC:877 ALDH7A1
HPAiHPA023296
MalaCardsiALDH7A1
MIMi107323 gene
266100 phenotype
neXtProtiNX_P49419
OpenTargetsiENSG00000164904
Orphaneti3006 Pyridoxine-dependent epilepsy
PharmGKBiPA24704

GenAtlas: human gene database

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GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG2453 Eukaryota
COG1012 LUCA
GeneTreeiENSGT00940000154938
HOGENOMiHOG000271511
InParanoidiP49419
KOiK14085
OrthoDBi692580at2759
PhylomeDBiP49419
TreeFamiTF300388

Enzyme and pathway databases

UniPathwayiUPA00529;UER00386
BioCyciMetaCyc:HS09157-MONOMER
BRENDAi1.2.1.31 2681
ReactomeiR-HSA-6798163 Choline catabolism
R-HSA-71064 Lysine catabolism
SABIO-RKiP49419

Miscellaneous databases

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

More...
ChiTaRSi
ALDH7A1 human
EvolutionaryTraceiP49419

The Gene Wiki collection of pages on human genes and proteins

More...
GeneWikii
ALDH7A1

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

More...
GenomeRNAii
501

Protein Ontology

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PROi
PR:P49419

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000164904 Expressed in 210 organ(s), highest expression level in right ovary
ExpressionAtlasiP49419 baseline and differential
GenevisibleiP49419 HS

Family and domain databases

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
IPR029510 Ald_DH_CS_GLU
IPR016162 Ald_DH_N
IPR015590 Aldehyde_DH_dom
PfamiView protein in Pfam
PF00171 Aldedh, 1 hit
SUPFAMiSSF53720 SSF53720, 1 hit
PROSITEiView protein in PROSITE
PS00687 ALDEHYDE_DEHYDR_GLU, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

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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 nameiAL7A1_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: P49419
Secondary accession number(s): B2R669
, B4DIC7, B4DMA0, E7EPT3, O14619, Q6IPU8, Q9BUL4
<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: February 1, 1996
Last sequence update: April 20, 2010
Last modified: July 31, 2019
This is version 195 of the entry and version 5 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. PATHWAY comments
    Index of metabolic and biosynthesis pathways
  2. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  3. SIMILARITY comments
    Index of protein domains and families
  4. Human chromosome 5
    Human chromosome 5: entries, gene names and cross-references to MIM
  5. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  6. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  7. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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