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Entry version 176 (05 Jun 2019)
Sequence version 3 (01 Feb 2005)
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Protein

4-trimethylaminobutyraldehyde dehydrogenase

Gene

ALDH9A1

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

Converts gamma-trimethylaminobutyraldehyde into gamma-butyrobetaine. Catalyzes the irreversible oxidation of a broad range of aldehydes to the corresponding acids in an NAD-dependent reaction.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=11 µM for 4-aminobutyraldehyde

    pH dependencei

    Optimum pH is about 9.4 with propionaldehyde as substrate, and 7.5 with 4-aminobutyraldehyde as substrate.

    <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: carnitine biosynthesis

    This protein is involved in the pathway carnitine biosynthesis, which is part of Amine and polyamine biosynthesis.
    View all proteins of this organism that are known to be involved in the pathway carnitine biosynthesis 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>Sitei157Transition 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 sitei254Proton acceptorPROSITE-ProRule annotation1
    Active sitei288NucleophilePROSITE-ProRule annotation1

    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 bindingi232 – 237NADBy 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

    More...
    BioCyci
    MetaCyc:HS06992-MONOMER

    BRENDA Comprehensive Enzyme Information System

    More...
    BRENDAi
    1.2.1.47 2681

    Reactome - a knowledgebase of biological pathways and processes

    More...
    Reactomei
    R-HSA-71262 Carnitine synthesis

    SABIO-RK: Biochemical Reaction Kinetics Database

    More...
    SABIO-RKi
    P49189

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

    More...
    UniPathwayi
    UPA00118

    <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:
    4-trimethylaminobutyraldehyde dehydrogenase (EC:1.2.1.47)
    Short name:
    TMABADH
    Alternative name(s):
    Aldehyde dehydrogenase E3 isozyme
    Aldehyde dehydrogenase family 9 member A1 (EC:1.2.1.3)
    Gamma-aminobutyraldehyde dehydrogenase (EC:1.2.1.19)
    R-aminobutyraldehyde dehydrogenase
    Cleaved into the following chain:
    <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:ALDH9A1
    Synonyms:ALDH4, ALDH7, ALDH9
    <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:412 ALDH9A1

    Online Mendelian Inheritance in Man (OMIM)

    More...
    MIMi
    602733 gene

    neXtProt; the human protein knowledge platform

    More...
    neXtProti
    NX_P49189

    <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

    <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

    Organism-specific databases

    DisGeNET

    More...
    DisGeNETi
    223

    Open Targets

    More...
    OpenTargetsi
    ENSG00000143149

    The Pharmacogenetics and Pharmacogenomics Knowledge Base

    More...
    PharmGKBi
    PA24706

    Chemistry databases

    ChEMBL database of bioactive drug-like small molecules

    More...
    ChEMBLi
    CHEMBL3542434

    Drug and drug target database

    More...
    DrugBanki
    DB00157 NADH

    Polymorphism and mutation databases

    BioMuta curated single-nucleotide variation and disease association database

    More...
    BioMutai
    ALDH9A1

    Domain mapping of disease mutations (DMDM)

    More...
    DMDMi
    62511242

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

    Molecule processing

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    <p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00004343511 – 4944-trimethylaminobutyraldehyde dehydrogenaseAdd BLAST494
    <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 methionineiRemoved; alternateCombined sources1 Publication
    ChainiPRO_00000564852 – 4944-trimethylaminobutyraldehyde dehydrogenase, N-terminally processedAdd BLAST493

    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 residuei2N-acetylserine; in 4-trimethylaminobutyraldehyde dehydrogenase, N-terminally processedCombined sources1 Publication1
    Modified residuei30N6-acetyllysine; alternateBy similarity1
    Modified residuei30N6-succinyllysine; alternateBy similarity1
    Modified residuei59N6-succinyllysineBy similarity1
    Modified residuei298N6-acetyllysineCombined sources1
    Modified residuei303N6-acetyllysine; alternateBy similarity1
    Modified residuei303N6-succinyllysine; alternateBy similarity1
    Modified residuei344N6-acetyllysineBy similarity1

    Keywords - PTMi

    Acetylation

    Proteomic databases

    Encyclopedia of Proteome Dynamics

    More...
    EPDi
    P49189

    jPOST - Japan Proteome Standard Repository/Database

    More...
    jPOSTi
    P49189

    MaxQB - The MaxQuant DataBase

    More...
    MaxQBi
    P49189

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

    More...
    PaxDbi
    P49189

    PeptideAtlas

    More...
    PeptideAtlasi
    P49189

    PRoteomics IDEntifications database

    More...
    PRIDEi
    P49189

    ProteomicsDB human proteome resource

    More...
    ProteomicsDBi
    55968

    2D gel databases

    REPRODUCTION-2DPAGE

    More...
    REPRODUCTION-2DPAGEi
    IPI00479877

    PTM databases

    iPTMnet integrated resource for PTMs in systems biology context

    More...
    iPTMneti
    P49189

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

    More...
    PhosphoSitePlusi
    P49189

    SwissPalm database of S-palmitoylation events

    More...
    SwissPalmi
    P49189

    <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

    High expression in adult liver, skeletal muscle, and kidney. Low levels in heart, pancreas, lung and brain. Expressed in all regions of the brain. Expression levels are variable in the different brain areas, with the highest levels in the spinal cord and the lowest in the occipital pole.1 Publication

    <p>This subsection of the ‘Expression’ section provides information on the expression of the gene product at various stages of a cell, tissue or organism development. By default, the information is derived from experiments at the mRNA level, unless specified ‘at the protein level’.<p><a href='/help/developmental_stage' target='_top'>More...</a></p>Developmental stagei

    Strongly expressed in human embryonic brain (gestational age 12 weeks).

    Gene expression databases

    Bgee dataBase for Gene Expression Evolution

    More...
    Bgeei
    ENSG00000143149 Expressed in 99 organ(s), highest expression level in right adrenal gland

    ExpressionAtlas, Differential and Baseline Expression

    More...
    ExpressionAtlasi
    P49189 baseline and differential

    Genevisible search portal to normalized and curated expression data from Genevestigator

    More...
    Genevisiblei
    P49189 HS

    Organism-specific databases

    Human Protein Atlas

    More...
    HPAi
    HPA006077
    HPA010873

    <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.

    Protein-protein interaction databases

    The Biological General Repository for Interaction Datasets (BioGrid)

    More...
    BioGridi
    106725, 17 interactors

    Protein interaction database and analysis system

    More...
    IntActi
    P49189, 6 interactors

    STRING: functional protein association networks

    More...
    STRINGi
    9606.ENSP00000346827

    <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

    3D structure databases

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

    More...
    SMRi
    P49189

    Database of comparative protein structure models

    More...
    ModBasei
    Search...

    MobiDB: a database of protein disorder and mobility annotations

    More...
    MobiDBi
    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

    Phylogenomic databases

    evolutionary genealogy of genes: Non-supervised Orthologous Groups

    More...
    eggNOGi
    KOG2450 Eukaryota
    COG1012 LUCA

    Ensembl GeneTree

    More...
    GeneTreei
    ENSGT00940000163309

    The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

    More...
    HOGENOMi
    HOG000271505

    InParanoid: Eukaryotic Ortholog Groups

    More...
    InParanoidi
    P49189

    KEGG Orthology (KO)

    More...
    KOi
    K00149

    Identification of Orthologs from Complete Genome Data

    More...
    OMAi
    DTSWQCL

    Database of Orthologous Groups

    More...
    OrthoDBi
    538179at2759

    Database for complete collections of gene phylogenies

    More...
    PhylomeDBi
    P49189

    TreeFam database of animal gene trees

    More...
    TreeFami
    TF314257

    Family and domain databases

    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

    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

    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 and alternative initiation. AlignAdd to basket
    Isoform 1 (identifier: P49189-1) [UniParc]FASTAAdd to basket

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

    « Hide
            10         20         30         40         50
    MSTGTFVVSQ PLNYRGGARV EPADASGTEK AFEPATGRVI ATFTCSGEKE
    60 70 80 90 100
    VNLAVQNAKA AFKIWSQKSG MERCRILLEA ARIIREREDE IATMECINNG
    110 120 130 140 150
    KSIFEARLDI DISWQCLEYY AGLAASMAGE HIQLPGGSFG YTRREPLGVC
    160 170 180 190 200
    VGIGAWNYPF QIASWKSAPA LACGNAMVFK PSPFTPVSAL LLAEIYSEAG
    210 220 230 240 250
    VPPGLFNVVQ GGAATGQFLC QHPDVAKVSF TGSVPTGMKI MEMSAKGIKP
    260 270 280 290 300
    VTLELGGKSP LIIFSDCDMN NAVKGALMAN FLTQGQVCCN GTRVFVQKEI
    310 320 330 340 350
    LDKFTEEVVK QTQRIKIGDP LLEDTRMGPL INRPHLERVL GFVKVAKEQG
    360 370 380 390 400
    AKVLCGGDIY VPEDPKLKDG YYMRPCVLTN CRDDMTCVKE EIFGPVMSIL
    410 420 430 440 450
    SFDTEAEVLE RANDTTFGLA AGVFTRDIQR AHRVVAELQA GTCFINNYNV
    460 470 480 490
    SPVELPFGGY KKSGFGRENG RVTIEYYSQL KTVCVEMGDV ESAF
    Length:494
    Mass (Da):53,802
    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:i1E1CDF910D763BA1
    GO
    Isoform 2 (identifier: P49189-2) [UniParc]FASTAAdd to basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-70: Missing.

    Note: Produced by alternative splicing. No experimental confirmation available.
    Show »
    Length:424
    Mass (Da):46,455
    Checksum:i211F5F4B06E9B453
    GO
    Isoform 3 (identifier: P49189-3) [UniParc]FASTAAdd to basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-1: M → MFLRAGLAALSPLLRSLRPSPVAAM

    Note: Produced by alternative initiation.
    Show »
    Length:518
    Mass (Da):56,292
    Checksum:iCF51CD9472D6A686
    GO

    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 conflicti19 – 25RVEPADA → AGAGGR in AAB18827 (PubMed:8786138).Curated7
    Sequence conflicti150C → Q AA sequence (PubMed:8269919).Curated1
    Sequence conflicti159P → W AA sequence (PubMed:8269919).Curated1
    Sequence conflicti172A → R AA sequence (PubMed:8269919).Curated1

    Natural variant

    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_011304116C → S in allele ALDH9A1*2. 2 Publications1

    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_0563051 – 70Missing in isoform 2. 1 PublicationAdd BLAST70
    Alternative sequenceiVSP_0600451M → MFLRAGLAALSPLLRSLRPS PVAAM in isoform 3. 1

    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
    U34252 mRNA Translation: AAB18827.1
    AF172093 mRNA Translation: AAF43600.1
    AK302183 mRNA Translation: BAG63549.1
    AK302191 mRNA Translation: BAG63554.1
    AK312751 mRNA Translation: BAG35618.1
    AL451074 Genomic DNA No translation available.
    CH471067 Genomic DNA Translation: EAW90758.1
    BC151140 mRNA Translation: AAI51141.1
    BC151141 mRNA Translation: AAI51142.1
    U50203 mRNA Translation: AAB06721.1
    X75425 mRNA Translation: CAA53176.1

    The Consensus CDS (CCDS) project

    More...
    CCDSi
    CCDS1250.2 [P49189-3]

    Protein sequence database of the Protein Information Resource

    More...
    PIRi
    G02054 S39532

    NCBI Reference Sequences

    More...
    RefSeqi
    NP_000687.3, NM_000696.3 [P49189-3]
    XP_011507596.1, XM_011509294.2

    Genome annotation databases

    Ensembl eukaryotic genome annotation project

    More...
    Ensembli
    ENST00000354775; ENSP00000346827; ENSG00000143149 [P49189-3]

    Database of genes from NCBI RefSeq genomes

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    GeneIDi
    223

    KEGG: Kyoto Encyclopedia of Genes and Genomes

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    KEGGi
    hsa:223

    UCSC genome browser

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    UCSCi
    uc001gdh.2 human [P49189-1]

    Keywords - Coding sequence diversityi

    Alternative initiation, 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
    U34252 mRNA Translation: AAB18827.1
    AF172093 mRNA Translation: AAF43600.1
    AK302183 mRNA Translation: BAG63549.1
    AK302191 mRNA Translation: BAG63554.1
    AK312751 mRNA Translation: BAG35618.1
    AL451074 Genomic DNA No translation available.
    CH471067 Genomic DNA Translation: EAW90758.1
    BC151140 mRNA Translation: AAI51141.1
    BC151141 mRNA Translation: AAI51142.1
    U50203 mRNA Translation: AAB06721.1
    X75425 mRNA Translation: CAA53176.1
    CCDSiCCDS1250.2 [P49189-3]
    PIRiG02054 S39532
    RefSeqiNP_000687.3, NM_000696.3 [P49189-3]
    XP_011507596.1, XM_011509294.2

    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
    6QAKX-ray2.50A/B/C/D/E/F/G/H1-494[»]
    6QAOX-ray2.89A/B/C/D/E/F/G/H1-494[»]
    6QAPX-ray2.30A/B/C/D1-494[»]
    SMRiP49189
    ModBaseiSearch...
    MobiDBiSearch...

    Protein-protein interaction databases

    BioGridi106725, 17 interactors
    IntActiP49189, 6 interactors
    STRINGi9606.ENSP00000346827

    Chemistry databases

    ChEMBLiCHEMBL3542434
    DrugBankiDB00157 NADH

    PTM databases

    iPTMnetiP49189
    PhosphoSitePlusiP49189
    SwissPalmiP49189

    Polymorphism and mutation databases

    BioMutaiALDH9A1
    DMDMi62511242

    2D gel databases

    REPRODUCTION-2DPAGEiIPI00479877

    Proteomic databases

    EPDiP49189
    jPOSTiP49189
    MaxQBiP49189
    PaxDbiP49189
    PeptideAtlasiP49189
    PRIDEiP49189
    ProteomicsDBi55968

    Protocols and materials databases

    The DNASU plasmid repository

    More...
    DNASUi
    223
    Structural Biology KnowledgebaseSearch...

    Genome annotation databases

    EnsembliENST00000354775; ENSP00000346827; ENSG00000143149 [P49189-3]
    GeneIDi223
    KEGGihsa:223
    UCSCiuc001gdh.2 human [P49189-1]

    Organism-specific databases

    Comparative Toxicogenomics Database

    More...
    CTDi
    223
    DisGeNETi223

    GeneCards: human genes, protein and diseases

    More...
    GeneCardsi
    ALDH9A1

    H-Invitational Database, human transcriptome db

    More...
    H-InvDBi
    HIX0199965
    HGNCiHGNC:412 ALDH9A1
    HPAiHPA006077
    HPA010873
    MIMi602733 gene
    neXtProtiNX_P49189
    OpenTargetsiENSG00000143149
    PharmGKBiPA24706

    GenAtlas: human gene database

    More...
    GenAtlasi
    Search...

    Phylogenomic databases

    eggNOGiKOG2450 Eukaryota
    COG1012 LUCA
    GeneTreeiENSGT00940000163309
    HOGENOMiHOG000271505
    InParanoidiP49189
    KOiK00149
    OMAiDTSWQCL
    OrthoDBi538179at2759
    PhylomeDBiP49189
    TreeFamiTF314257

    Enzyme and pathway databases

    UniPathwayiUPA00118
    BioCyciMetaCyc:HS06992-MONOMER
    BRENDAi1.2.1.47 2681
    ReactomeiR-HSA-71262 Carnitine synthesis
    SABIO-RKiP49189

    Miscellaneous databases

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

    More...
    ChiTaRSi
    ALDH9A1 human

    The Gene Wiki collection of pages on human genes and proteins

    More...
    GeneWikii
    Aldehyde_dehydrogenase_9_family,_member_A1

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

    More...
    GenomeRNAii
    223

    Protein Ontology

    More...
    PROi
    PR:P49189

    The Stanford Online Universal Resource for Clones and ESTs

    More...
    SOURCEi
    Search...

    Gene expression databases

    BgeeiENSG00000143149 Expressed in 99 organ(s), highest expression level in right adrenal gland
    ExpressionAtlasiP49189 baseline and differential
    GenevisibleiP49189 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
    IPR016160 Ald_DH_CS_CYS
    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
    PS00070 ALDEHYDE_DEHYDR_CYS, 1 hit
    PS00687 ALDEHYDE_DEHYDR_GLU, 1 hit

    ProtoNet; Automatic hierarchical classification of proteins

    More...
    ProtoNeti
    Search...

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

    <p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiAL9A1_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: P49189
    Secondary accession number(s): B2R6X1
    , B4DXY7, B9EKV4, Q5VV90, Q6LCL1, Q9NZT7
    <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: February 1, 2005
    Last modified: June 5, 2019
    This is version 176 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, Complete proteome, Direct protein sequencing, Reference proteome

    Documents

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