Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Entry version 187 (29 Sep 2021)
Sequence version 2 (27 Sep 2004)
Previous versions | rss
Add a publicationFeedback
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
Biological processLipid metabolism
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

Pathway Commons web resource for biological pathway data

More...
PathwayCommonsi
P47895

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

Eukaryotic Pathogen, Vector and Host Database Resources

More...
VEuPathDBi
HostDB:ENSG00000184254

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Keywords - Cellular componenti

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 variants 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 variant, 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, Tbio

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

Genetic variation 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 or proteolytic cleavage.<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 pigmented layer of retina and 204 other tissues

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
ENSG00000184254, Low tissue specificity

<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, 22 interactors

Protein interaction database and analysis system

More...
IntActi
P47895, 15 interactors

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000332256

Chemistry databases

BindingDB database of measured binding affinities

More...
BindingDBi
P47895

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...
RNActi
P47895, protein

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

Secondary structure

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

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni1 – 22DisorderedSequence analysisAdd BLAST22

<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

Ensembl GeneTree

More...
GeneTreei
ENSGT00940000158815

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
CLU_005391_0_1_1

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
P47895

Identification of Orthologs from Complete Genome Data

More...
OMAi
RHVMIKH

Database of Orthologous Groups

More...
OrthoDBi
153834at2759

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

<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[»]
6S6WX-ray3.25A/B20-508[»]
6TE5X-ray3.25A/B1-512[»]
6TGWX-ray2.80A/B/C/D1-512[»]
6TRYX-ray2.90A/B1-512[»]
7A6QX-ray2.95A/B1-512[»]
SMRiP47895
ModBaseiSearch...
PDBe-KBiSearch...

Protein-protein interaction databases

BioGRIDi106722, 22 interactors
IntActiP47895, 15 interactors
STRINGi9606.ENSP00000332256

Chemistry databases

BindingDBiP47895
ChEMBLiCHEMBL3579
DrugBankiDB00157, NADH
DB00162, Vitamin A
SwissLipidsiSLP:000001878

PTM databases

iPTMnetiP47895
PhosphoSitePlusiP47895
SwissPalmiP47895

Genetic variation databases

BioMutaiALDH1A3
DMDMi52788258

Proteomic databases

EPDiP47895
jPOSTiP47895
MassIVEiP47895
MaxQBiP47895
PaxDbiP47895
PeptideAtlasiP47895
PRIDEiP47895
ProteomicsDBi55815

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...
Antibodypediai
43944, 221 antibodies

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
HPAiENSG00000184254, Low tissue specificity
MalaCardsiALDH1A3
MIMi600463, gene
615113, phenotype
neXtProtiNX_P47895
OpenTargetsiENSG00000184254
Orphaneti2542, Isolated microphthalmia-anophthalmia-coloboma
PharmGKBiPA24694
VEuPathDBiHostDB:ENSG00000184254

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG2450, Eukaryota
GeneTreeiENSGT00940000158815
HOGENOMiCLU_005391_0_1_1
InParanoidiP47895
OMAiRHVMIKH
OrthoDBi153834at2759
PhylomeDBiP47895
TreeFamiTF300455

Enzyme and pathway databases

UniPathwayiUPA00912
BioCyciMetaCyc:HS00013-MONOMER
BRENDAi1.2.1.5, 2681
PathwayCommonsiP47895
ReactomeiR-HSA-5365859, RA biosynthesis pathway

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...
BioGRID-ORCSi
220, 1 hit in 1008 CRISPR screens

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, Tbio

Protein Ontology

More...
PROi
PR:P47895
RNActiP47895, protein

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000184254, Expressed in pigmented layer of retina and 204 other tissues
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

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: September 29, 2021
This is version 187 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, 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 genetic variants
    List of human entries with genetic variants
  3. Human variants curated from literature reports
    Index of human variants curated from literature reports
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PATHWAY comments
    Index of metabolic and biosynthesis pathways
  6. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  7. SIMILARITY comments
    Index of protein domains and families
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

We'd like to inform you that we have updated our Privacy Notice to comply with Europe’s new General Data Protection Regulation (GDPR) that applies since 25 May 2018.

Do not show this banner again