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Entry version 176 (13 Nov 2019)
Sequence version 2 (27 Sep 2004)
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Protein

Aldehyde dehydrogenase family 1 member A3

Gene

ALDH1A3

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

NAD-dependent aldehyde dehydrogenase that catalyzes the formation of retinoic acid (PubMed:27759097). Has high activity with all-trans retinal, and has much lower in vitro activity with acetaldehyde (PubMed:27759097). Required for the biosynthesis of normal levels of retinoic acid in the embryonic ocular and nasal regions; retinoic acid is required for normal embryonic development of the eye and the nasal region (By similarity).By similarity1 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=9.3 µM for all-trans retinal1 Publication
  2. KM=4.8 µM for NAD1 Publication
  3. KM=2.4 mM for acetaldehyde1 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: retinol metabolism

    This protein is involved in the pathway retinol metabolism, which is part of Cofactor metabolism.1 Publication
    View all proteins of this organism that are known to be involved in the pathway retinol metabolism and in Cofactor metabolism.

    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>Sitei181Transition state stabilizerBy similarity1
    <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 sitei204NADCombined sources1 Publication1
    Binding sitei207NADCombined sources1 Publication1
    <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 sitei280Proton acceptorPROSITE-ProRule annotation1 Publication1
    Active sitei314NucleophilePROSITE-ProRule annotation1
    Binding sitei361NADCombined sources1 Publication1
    Binding sitei411NADCombined sources1 Publication1

    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 bindingi257 – 262NADCombined sources1 Publication6

    <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:HS00013-MONOMER

    BRENDA Comprehensive Enzyme Information System

    More...
    BRENDAi
    1.2.1.5 2681

    Reactome - a knowledgebase of biological pathways and processes

    More...
    Reactomei
    R-HSA-5365859 RA biosynthesis pathway

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

    More...
    UniPathwayi
    UPA00912

    Chemistry databases

    SwissLipids knowledge resource for lipid biology

    More...
    SwissLipidsi
    SLP:000001878

    <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:
    Aldehyde dehydrogenase family 1 member A3 (EC:1.2.1.361 Publication)
    Alternative name(s):
    Aldehyde dehydrogenase 6
    Retinaldehyde dehydrogenase 3
    Short name:
    RALDH-3
    Short name:
    RalDH3
    <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:ALDH1A3
    Synonyms:ALDH61 Publication
    <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 15

    Organism-specific databases

    Human Gene Nomenclature Database

    More...
    HGNCi
    HGNC:409 ALDH1A3

    Online Mendelian Inheritance in Man (OMIM)

    More...
    MIMi
    600463 gene

    neXtProt; the human protein knowledge platform

    More...
    neXtProti
    NX_P47895

    <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

    <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

    Microphthalmia, isolated, 8 (MCOP8)7 Publications
    The disease is caused by mutations affecting the gene represented in this entry.
    Disease descriptionA disorder of eye formation, ranging from small size of a single eye to complete bilateral absence of ocular tissues. Ocular abnormalities like opacities of the cornea and lens, scaring of the retina and choroid, and other abnormalities may also be present.
    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_07233271V → M in MCOP8. 1 PublicationCorresponds to variant dbSNP:rs386834230EnsemblClinVar.1
    Natural variantiVAR_06932289R → C in MCOP8; does not affect ALDH1A3 expression; results in strongly reduced protein levels. 1 PublicationCorresponds to variant dbSNP:rs397514652EnsemblClinVar.1
    Natural variantiVAR_069323145A → V in MCOP8. 1 PublicationCorresponds to variant dbSNP:rs754619607Ensembl.1
    Natural variantiVAR_072333174C → Y in MCOP8. 1 Publication1
    Natural variantiVAR_072334355P → R in MCOP8. 1 Publication1
    Natural variantiVAR_069324369I → F in MCOP8. 1 Publication1
    Natural variantiVAR_072335382G → R in MCOP8. 1 Publication1
    Natural variantiVAR_072336411E → K in MCOP8. 1 Publication1
    Natural variantiVAR_072337466N → K in MCOP8. 1 Publication1
    Natural variantiVAR_069325493A → P in MCOP8; does not affect ALDH1A3 expression; results in strongly reduced protein levels. 1 PublicationCorresponds to variant dbSNP:rs397514653EnsemblClinVar.1

    Keywords - Diseasei

    Disease mutation, Microphthalmia

    Organism-specific databases

    DisGeNET

    More...
    DisGeNETi
    220

    MalaCards human disease database

    More...
    MalaCardsi
    ALDH1A3
    MIMi615113 phenotype

    Open Targets

    More...
    OpenTargetsi
    ENSG00000184254

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

    More...
    Orphaneti
    2542 Isolated microphthalmia-anophthalmia-coloboma

    The Pharmacogenetics and Pharmacogenomics Knowledge Base

    More...
    PharmGKBi
    PA24694

    Miscellaneous databases

    Pharos NIH Druggable Genome Knowledgebase

    More...
    Pharosi
    P47895

    Chemistry databases

    ChEMBL database of bioactive drug-like small molecules

    More...
    ChEMBLi
    CHEMBL3579

    Drug and drug target database

    More...
    DrugBanki
    DB00157 NADH
    DB00162 Vitamin A

    Polymorphism and mutation databases

    BioMuta curated single-nucleotide variation and disease association database

    More...
    BioMutai
    ALDH1A3

    Domain mapping of disease mutations (DMDM)

    More...
    DMDMi
    52788258

    <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 <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 sources1 Publication
    <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_00000564782 – 512Aldehyde dehydrogenase family 1 member A3Add BLAST511

    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-acetylalanineCombined sources1 Publication1

    Keywords - PTMi

    Acetylation

    Proteomic databases

    Encyclopedia of Proteome Dynamics

    More...
    EPDi
    P47895

    jPOST - Japan Proteome Standard Repository/Database

    More...
    jPOSTi
    P47895

    MassIVE - Mass Spectrometry Interactive Virtual Environment

    More...
    MassIVEi
    P47895

    MaxQB - The MaxQuant DataBase

    More...
    MaxQBi
    P47895

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

    More...
    PaxDbi
    P47895

    PeptideAtlas

    More...
    PeptideAtlasi
    P47895

    PRoteomics IDEntifications database

    More...
    PRIDEi
    P47895

    ProteomicsDB: a multi-organism proteome resource

    More...
    ProteomicsDBi
    55815

    PTM databases

    iPTMnet integrated resource for PTMs in systems biology context

    More...
    iPTMneti
    P47895

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

    More...
    PhosphoSitePlusi
    P47895

    SwissPalm database of S-palmitoylation events

    More...
    SwissPalmi
    P47895

    <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

    Expressed at low levels in many tissues and at higher levels in salivary gland, stomach, and kidney.1 Publication

    Gene expression databases

    Bgee dataBase for Gene Expression Evolution

    More...
    Bgeei
    ENSG00000184254 Expressed in 196 organ(s), highest expression level in pigmented layer of retina

    ExpressionAtlas, Differential and Baseline Expression

    More...
    ExpressionAtlasi
    P47895 baseline and differential

    Genevisible search portal to normalized and curated expression data from Genevestigator

    More...
    Genevisiblei
    P47895 HS

    Organism-specific databases

    Human Protein Atlas

    More...
    HPAi
    HPA046271
    HPA064749

    <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.

    1 Publication

    GO - Molecular functioni

    Protein-protein interaction databases

    The Biological General Repository for Interaction Datasets (BioGrid)

    More...
    BioGridi
    106722, 12 interactors

    Protein interaction database and analysis system

    More...
    IntActi
    P47895, 6 interactors

    STRING: functional protein association networks

    More...
    STRINGi
    9606.ENSP00000332256

    Chemistry databases

    BindingDB database of measured binding affinities

    More...
    BindingDBi
    P47895

    <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

    1512
    Legend: HelixTurnBeta strandPDB Structure known for this area
    Show more details

    3D structure databases

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

    More...
    SMRi
    P47895

    Database of comparative protein structure models

    More...
    ModBasei
    Search...

    Protein Data Bank in Europe - Knowledge Base

    More...
    PDBe-KBi
    Search...

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

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

    Belongs to the aldehyde dehydrogenase family.Curated

    Phylogenomic databases

    evolutionary genealogy of genes: Non-supervised Orthologous Groups

    More...
    eggNOGi
    KOG2450 Eukaryota
    COG1012 LUCA

    Ensembl GeneTree

    More...
    GeneTreei
    ENSGT00940000158815

    The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

    More...
    HOGENOMi
    HOG000271505

    InParanoid: Eukaryotic Ortholog Groups

    More...
    InParanoidi
    P47895

    KEGG Orthology (KO)

    More...
    KOi
    K00129

    Identification of Orthologs from Complete Genome Data

    More...
    OMAi
    GTYAINW

    Database of Orthologous Groups

    More...
    OrthoDBi
    621600at2759

    Database for complete collections of gene phylogenies

    More...
    PhylomeDBi
    P47895

    TreeFam database of animal gene trees

    More...
    TreeFami
    TF300455

    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>Sequence (1+)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 has 1 described isoform and 4 potential isoforms that are computationally mapped.Show allAlign All

    P47895-1 [UniParc]FASTAAdd to basket
    « Hide
            10         20         30         40         50
    MATANGAVEN GQPDRKPPAL PRPIRNLEVK FTKIFINNEW HESKSGKKFA
    60 70 80 90 100
    TCNPSTREQI CEVEEGDKPD VDKAVEAAQV AFQRGSPWRR LDALSRGRLL
    110 120 130 140 150
    HQLADLVERD RATLAALETM DTGKPFLHAF FIDLEGCIRT LRYFAGWADK
    160 170 180 190 200
    IQGKTIPTDD NVVCFTRHEP IGVCGAITPW NFPLLMLVWK LAPALCCGNT
    210 220 230 240 250
    MVLKPAEQTP LTALYLGSLI KEAGFPPGVV NIVPGFGPTV GAAISSHPQI
    260 270 280 290 300
    NKIAFTGSTE VGKLVKEAAS RSNLKRVTLE LGGKNPCIVC ADADLDLAVE
    310 320 330 340 350
    CAHQGVFFNQ GQCCTAASRV FVEEQVYSEF VRRSVEYAKK RPVGDPFDVK
    360 370 380 390 400
    TEQGPQIDQK QFDKILELIE SGKKEGAKLE CGGSAMEDKG LFIKPTVFSE
    410 420 430 440 450
    VTDNMRIAKE EIFGPVQPIL KFKSIEEVIK RANSTDYGLT AAVFTKNLDK
    460 470 480 490 500
    ALKLASALES GTVWINCYNA LYAQAPFGGF KMSGNGRELG EYALAEYTEV
    510
    KTVTIKLGDK NP
    Length:512
    Mass (Da):56,108
    Last modified:September 27, 2004 - v2
    <p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:i1BFCF4F56F0FE89A
    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 4 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
    EntryEntry nameProtein names
    Gene namesLengthAnnotation
    H0Y2X5H0Y2X5_HUMAN
    Aldehyde dehydrogenase 1 family, me...
    ALDH1A3 hCG_28035
    405Annotation 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>
    H0YNQ3H0YNQ3_HUMAN
    Aldehyde dehydrogenase family 1 mem...
    ALDH1A3
    141Annotation 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>
    H0YKF9H0YKF9_HUMAN
    Aldehyde dehydrogenase family 1 mem...
    ALDH1A3
    144Annotation 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>
    H0YLT1H0YLT1_HUMAN
    Aldehyde dehydrogenase family 1 mem...
    ALDH1A3
    102Annotation 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 conflicti15R → G in AAA79036 (PubMed:7698756).Curated1

    Natural variant

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    Natural variantiVAR_07233271V → M in MCOP8. 1 PublicationCorresponds to variant dbSNP:rs386834230EnsemblClinVar.1
    Natural variantiVAR_06932289R → C in MCOP8; does not affect ALDH1A3 expression; results in strongly reduced protein levels. 1 PublicationCorresponds to variant dbSNP:rs397514652EnsemblClinVar.1
    Natural variantiVAR_069323145A → V in MCOP8. 1 PublicationCorresponds to variant dbSNP:rs754619607Ensembl.1
    Natural variantiVAR_072333174C → Y in MCOP8. 1 Publication1
    Natural variantiVAR_072334355P → R in MCOP8. 1 Publication1
    Natural variantiVAR_069324369I → F in MCOP8. 1 Publication1
    Natural variantiVAR_072335382G → R in MCOP8. 1 Publication1
    Natural variantiVAR_019706386M → V. Corresponds to variant dbSNP:rs3803430EnsemblClinVar.1
    Natural variantiVAR_072336411E → K in MCOP8. 1 Publication1
    Natural variantiVAR_072337466N → K in MCOP8. 1 Publication1
    Natural variantiVAR_069325493A → P in MCOP8; does not affect ALDH1A3 expression; results in strongly reduced protein levels. 1 PublicationCorresponds to variant dbSNP:rs397514653EnsemblClinVar.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
    U07919 mRNA Translation: AAA79036.1
    BC069274 mRNA Translation: AAH69274.1

    The Consensus CDS (CCDS) project

    More...
    CCDSi
    CCDS10389.1

    Protein sequence database of the Protein Information Resource

    More...
    PIRi
    A55684

    NCBI Reference Sequences

    More...
    RefSeqi
    NP_000684.2, NM_000693.3
    NP_001280744.1, NM_001293815.1

    Genome annotation databases

    Ensembl eukaryotic genome annotation project

    More...
    Ensembli
    ENST00000329841; ENSP00000332256; ENSG00000184254

    Database of genes from NCBI RefSeq genomes

    More...
    GeneIDi
    220

    KEGG: Kyoto Encyclopedia of Genes and Genomes

    More...
    KEGGi
    hsa:220

    UCSC genome browser

    More...
    UCSCi
    uc002bwn.5 human

    Keywords - Coding sequence diversityi

    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
    U07919 mRNA Translation: AAA79036.1
    BC069274 mRNA Translation: AAH69274.1
    CCDSiCCDS10389.1
    PIRiA55684
    RefSeqiNP_000684.2, NM_000693.3
    NP_001280744.1, NM_001293815.1

    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
    5FHZX-ray2.90A/B/C/D/E/F/G/H1-512[»]
    SMRiP47895
    ModBaseiSearch...
    PDBe-KBiSearch...

    Protein-protein interaction databases

    BioGridi106722, 12 interactors
    IntActiP47895, 6 interactors
    STRINGi9606.ENSP00000332256

    Chemistry databases

    BindingDBiP47895
    ChEMBLiCHEMBL3579
    DrugBankiDB00157 NADH
    DB00162 Vitamin A
    SwissLipidsiSLP:000001878

    PTM databases

    iPTMnetiP47895
    PhosphoSitePlusiP47895
    SwissPalmiP47895

    Polymorphism and mutation databases

    BioMutaiALDH1A3
    DMDMi52788258

    Proteomic databases

    EPDiP47895
    jPOSTiP47895
    MassIVEiP47895
    MaxQBiP47895
    PaxDbiP47895
    PeptideAtlasiP47895
    PRIDEiP47895
    ProteomicsDBi55815

    Protocols and materials databases

    The DNASU plasmid repository

    More...
    DNASUi
    220

    Genome annotation databases

    EnsembliENST00000329841; ENSP00000332256; ENSG00000184254
    GeneIDi220
    KEGGihsa:220
    UCSCiuc002bwn.5 human

    Organism-specific databases

    Comparative Toxicogenomics Database

    More...
    CTDi
    220
    DisGeNETi220

    GeneCards: human genes, protein and diseases

    More...
    GeneCardsi
    ALDH1A3
    HGNCiHGNC:409 ALDH1A3
    HPAiHPA046271
    HPA064749
    MalaCardsiALDH1A3
    MIMi600463 gene
    615113 phenotype
    neXtProtiNX_P47895
    OpenTargetsiENSG00000184254
    Orphaneti2542 Isolated microphthalmia-anophthalmia-coloboma
    PharmGKBiPA24694

    GenAtlas: human gene database

    More...
    GenAtlasi
    Search...

    Phylogenomic databases

    eggNOGiKOG2450 Eukaryota
    COG1012 LUCA
    GeneTreeiENSGT00940000158815
    HOGENOMiHOG000271505
    InParanoidiP47895
    KOiK00129
    OMAiGTYAINW
    OrthoDBi621600at2759
    PhylomeDBiP47895
    TreeFamiTF300455

    Enzyme and pathway databases

    UniPathwayiUPA00912
    BioCyciMetaCyc:HS00013-MONOMER
    BRENDAi1.2.1.5 2681
    ReactomeiR-HSA-5365859 RA biosynthesis pathway

    Miscellaneous databases

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

    More...
    ChiTaRSi
    ALDH1A3 human

    The Gene Wiki collection of pages on human genes and proteins

    More...
    GeneWikii
    ALDH1A3

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

    More...
    GenomeRNAii
    220
    PharosiP47895

    Protein Ontology

    More...
    PROi
    PR:P47895

    The Stanford Online Universal Resource for Clones and ESTs

    More...
    SOURCEi
    Search...

    Gene expression databases

    BgeeiENSG00000184254 Expressed in 196 organ(s), highest expression level in pigmented layer of retina
    ExpressionAtlasiP47895 baseline and differential
    GenevisibleiP47895 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...

    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 nameiAL1A3_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: P47895
    Secondary accession number(s): Q6NT64
    <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: September 27, 2004
    Last modified: November 13, 2019
    This is version 176 of the entry and version 2 of the sequence. See complete history.
    <p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
    Annotation programChordata Protein Annotation Program
    DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

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

    Keywords - Technical termi

    3D-structure, Complete proteome, Direct protein sequencing, Reference proteome

    Documents

    1. Human chromosome 15
      Human chromosome 15: entries, gene names and cross-references to MIM
    2. Human entries with polymorphisms or disease mutations
      List of human entries with polymorphisms or disease mutations
    3. SIMILARITY comments
      Index of protein domains and families
    4. Human polymorphisms and disease mutations
      Index of human polymorphisms and disease mutations
    5. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    6. PATHWAY comments
      Index of metabolic and biosynthesis pathways
    7. PDB cross-references
      Index of Protein Data Bank (PDB) cross-references
    UniProt is an ELIXIR core data resource
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