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Entry version 148 (08 May 2019)
Sequence version 1 (01 Mar 2001)
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Protein

2-aminomuconic semialdehyde dehydrogenase

Gene

ALDH8A1

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

Catalyzes the NAD-dependent oxidation of 2-aminomuconic semialdehyde of the kynurenine metabolic pathway in L-tryptophan degradation.1 Publication

Caution

Originally described as a retinal dehydrogenase based on its ability to preferentially oxidize 9-cis-retinal (PubMed:11007799). It has been reassigned to a 2-aminomuconic semialdehyde dehydrogenase (PubMed:29703752).2 Publications

<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> section describes the catalytic activity of an enzyme, i.e. a chemical reaction that the enzyme catalyzes.<p><a href='/help/catalytic_activity' target='_top'>More...</a></p>Catalytic activityi

<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section describes the metabolic pathway(s) associated with a protein.<p><a href='/help/pathway' target='_top'>More...</a></p>Pathwayi: L-kynurenine degradation

This protein is involved in the pathway L-kynurenine degradation, which is part of Amino-acid degradation.1 Publication
View all proteins of this organism that are known to be involved in the pathway L-kynurenine degradation and in Amino-acid degradation.

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>Sitei155Transition state stabilizerBy similarity1
<p>This subsection of the ‘Function’ 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 sitei253Proton acceptorPROSITE-ProRule annotation1
Active sitei287NucleophilePROSITE-ProRule annotation1

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Function’ 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 bindingi209 – 215NADSequence analysis7

<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

BRENDA Comprehensive Enzyme Information System

More...
BRENDAi
1.2.1.3 2681

Reactome - a knowledgebase of biological pathways and processes

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

SABIO-RK: Biochemical Reaction Kinetics Database

More...
SABIO-RKi
Q9H2A2

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

More...
UniPathwayi
UPA00334

<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:
2-aminomuconic semialdehyde dehydrogenase1 Publication (EC:1.2.1.321 Publication)
Alternative name(s):
Aldehyde dehydrogenase 12
Aldehyde dehydrogenase family 8 member A1Imported
<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:ALDH8A1Imported
Synonyms:ALDH12
<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 6

Organism-specific databases

Human Gene Nomenclature Database

More...
HGNCi
HGNC:15471 ALDH8A1

Online Mendelian Inheritance in Man (OMIM)

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MIMi
606467 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q9H2A2

<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

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology_and_biotech_section">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>Mutagenesisi109R → A: About 65-fold loss of catalytic efficiency. 1 Publication1
Mutagenesisi155N → A: Complete loss of activity. 1 Publication1
Mutagenesisi451R → A: Complete loss of activity. 1 Publication1

Organism-specific databases

DisGeNET

More...
DisGeNETi
64577

Open Targets

More...
OpenTargetsi
ENSG00000118514

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA24705

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
ALDH8A1

Domain mapping of disease mutations (DMDM)

More...
DMDMi
74752601

<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_00003129541 – 4872-aminomuconic semialdehyde dehydrogenaseAdd BLAST487

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 residuei362PhosphoserineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

MaxQB - The MaxQuant DataBase

More...
MaxQBi
Q9H2A2

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

More...
PaxDbi
Q9H2A2

PeptideAtlas

More...
PeptideAtlasi
Q9H2A2

PRoteomics IDEntifications database

More...
PRIDEi
Q9H2A2

ProteomicsDB human proteome resource

More...
ProteomicsDBi
80515
80516 [Q9H2A2-2]
80517 [Q9H2A2-3]
80518 [Q9H2A2-4]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q9H2A2

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

More...
PhosphoSitePlusi
Q9H2A2

<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

Highly expressed in adult kidney and liver. Detected at lower levels in fetal liver and kidney.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000118514 Expressed in 161 organ(s), highest expression level in liver

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
Q9H2A2 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
Q9H2A2 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA026292
HPA055414

<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

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
122204, 12 interactors

Protein interaction database and analysis system

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IntActi
Q9H2A2, 1 interactor

STRING: functional protein association networks

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STRINGi
9606.ENSP00000265605

<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
Q9H2A2

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
ENSGT00940000156799

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

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HOGENOMi
HOG000271505

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
Q9H2A2

KEGG Orthology (KO)

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KOi
K23234

Identification of Orthologs from Complete Genome Data

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OMAi
NLEECIP

Database of Orthologous Groups

More...
OrthoDBi
899961at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q9H2A2

TreeFam database of animal gene trees

More...
TreeFami
TF314129

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>.<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (4+)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.

This entry describes 4 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 4 described isoforms and 2 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q9H2A2-1) [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
MAGTNALLML ENFIDGKFLP CSSYIDSYDP STGEVYCRVP NSGKDEIEAA
60 70 80 90 100
VKAAREAFPS WSSRSPQERS RVLNQVADLL EQSLEEFAQA ESKDQGKTLA
110 120 130 140 150
LARTMDIPRS VQNFRFFASS SLHHTSECTQ MDHLGCMHYT VRAPVGVAGL
160 170 180 190 200
ISPWNLPLYL LTWKIAPAMA AGNTVIAKPS ELTSVTAWML CKLLDKAGVP
210 220 230 240 250
PGVVNIVFGT GPRVGEALVS HPEVPLISFT GSQPTAERIT QLSAPHCKKL
260 270 280 290 300
SLELGGKNPA IIFEDANLDE CIPATVRSSF ANQGEICLCT SRIFVQKSIY
310 320 330 340 350
SEFLKRFVEA TRKWKVGIPS DPLVSIGALI SKAHLEKVRS YVKRALAEGA
360 370 380 390 400
QIWCGEGVDK LSLPARNQAG YFMLPTVITD IKDESCCMTE EIFGPVTCVV
410 420 430 440 450
PFDSEEEVIE RANNVKYGLA ATVWSSNVGR VHRVAKKLQS GLVWTNCWLI
460 470 480
RELNLPFGGM KSSGIGREGA KDSYDFFTEI KTITVKH
Length:487
Mass (Da):53,401
Last modified:March 1, 2001 - v1
<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:i3CC09F6A7CCC269F
GO
Isoform 2 (identifier: Q9H2A2-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     284-337: Missing.

Note: Lacks enzymatic activity.
Show »
Length:433
Mass (Da):47,325
Checksum:i9777AFD28CE20C14
GO
Isoform 3 (identifier: Q9H2A2-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     148-160: AGLISPWNLPLYL → VPGYTCRTCRFVT
     161-487: Missing.

Note: May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay. No experimental confirmation available.
Show »
Length:160
Mass (Da):17,809
Checksum:iC94538B542A8ECAD
GO
Isoform 4 (identifier: Q9H2A2-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     148-197: Missing.

Note: No experimental confirmation available.
Show »
Length:437
Mass (Da):48,036
Checksum:i9544E73B210BABD6
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 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
H0YF40H0YF40_HUMAN
2-aminomuconic semialdehyde dehydro...
ALDH8A1
134Annotation 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>
E9PKV1E9PKV1_HUMAN
2-aminomuconic semialdehyde dehydro...
ALDH8A1
15Annotation 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>

<p>This subsection of the ‘Sequence’ section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

The sequence AAI14474 differs from that shown. Reason: Erroneous translation. Wrong choice of CDS.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti252L → P in BAD96568 (Ref. 3) 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_037618402F → S. Corresponds to variant dbSNP:rs2294315Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_043279148 – 197Missing in isoform 4. 1 PublicationAdd BLAST50
Alternative sequenceiVSP_039759148 – 160AGLIS…LPLYL → VPGYTCRTCRFVT in isoform 3. 1 PublicationAdd BLAST13
Alternative sequenceiVSP_039760161 – 487Missing in isoform 3. 1 PublicationAdd BLAST327
Alternative sequenceiVSP_029972284 – 337Missing in isoform 2. 3 PublicationsAdd BLAST54

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
AF303134 mRNA Translation: AAG42417.1
AK290784 mRNA Translation: BAF83473.1
AK298325 mRNA Translation: BAH12757.1
AK222848 mRNA Translation: BAD96568.1
AL021939 Genomic DNA No translation available.
AL445190 Genomic DNA No translation available.
CH471051 Genomic DNA Translation: EAW47985.1
CH471051 Genomic DNA Translation: EAW47986.1
BC113862 mRNA Translation: AAI13863.1
BC114473 mRNA Translation: AAI14474.1 Sequence problems.

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS5171.1 [Q9H2A2-1]
CCDS5172.1 [Q9H2A2-2]
CCDS55057.1 [Q9H2A2-4]

NCBI Reference Sequences

More...
RefSeqi
NP_001180409.1, NM_001193480.1 [Q9H2A2-4]
NP_072090.1, NM_022568.3 [Q9H2A2-1]
NP_739577.1, NM_170771.2 [Q9H2A2-2]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000265605; ENSP00000265605; ENSG00000118514 [Q9H2A2-1]
ENST00000349305; ENSP00000325473; ENSG00000118514 [Q9H2A2-3]
ENST00000367845; ENSP00000356819; ENSG00000118514 [Q9H2A2-2]
ENST00000367847; ENSP00000356821; ENSG00000118514 [Q9H2A2-4]

Database of genes from NCBI RefSeq genomes

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GeneIDi
64577

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:64577

UCSC genome browser

More...
UCSCi
uc003qew.3 human [Q9H2A2-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF303134 mRNA Translation: AAG42417.1
AK290784 mRNA Translation: BAF83473.1
AK298325 mRNA Translation: BAH12757.1
AK222848 mRNA Translation: BAD96568.1
AL021939 Genomic DNA No translation available.
AL445190 Genomic DNA No translation available.
CH471051 Genomic DNA Translation: EAW47985.1
CH471051 Genomic DNA Translation: EAW47986.1
BC113862 mRNA Translation: AAI13863.1
BC114473 mRNA Translation: AAI14474.1 Sequence problems.
CCDSiCCDS5171.1 [Q9H2A2-1]
CCDS5172.1 [Q9H2A2-2]
CCDS55057.1 [Q9H2A2-4]
RefSeqiNP_001180409.1, NM_001193480.1 [Q9H2A2-4]
NP_072090.1, NM_022568.3 [Q9H2A2-1]
NP_739577.1, NM_170771.2 [Q9H2A2-2]

3D structure databases

SMRiQ9H2A2
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi122204, 12 interactors
IntActiQ9H2A2, 1 interactor
STRINGi9606.ENSP00000265605

PTM databases

iPTMnetiQ9H2A2
PhosphoSitePlusiQ9H2A2

Polymorphism and mutation databases

BioMutaiALDH8A1
DMDMi74752601

Proteomic databases

MaxQBiQ9H2A2
PaxDbiQ9H2A2
PeptideAtlasiQ9H2A2
PRIDEiQ9H2A2
ProteomicsDBi80515
80516 [Q9H2A2-2]
80517 [Q9H2A2-3]
80518 [Q9H2A2-4]

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000265605; ENSP00000265605; ENSG00000118514 [Q9H2A2-1]
ENST00000349305; ENSP00000325473; ENSG00000118514 [Q9H2A2-3]
ENST00000367845; ENSP00000356819; ENSG00000118514 [Q9H2A2-2]
ENST00000367847; ENSP00000356821; ENSG00000118514 [Q9H2A2-4]
GeneIDi64577
KEGGihsa:64577
UCSCiuc003qew.3 human [Q9H2A2-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
64577
DisGeNETi64577

GeneCards: human genes, protein and diseases

More...
GeneCardsi
ALDH8A1
HGNCiHGNC:15471 ALDH8A1
HPAiHPA026292
HPA055414
MIMi606467 gene
neXtProtiNX_Q9H2A2
OpenTargetsiENSG00000118514
PharmGKBiPA24705

GenAtlas: human gene database

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GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG2450 Eukaryota
COG1012 LUCA
GeneTreeiENSGT00940000156799
HOGENOMiHOG000271505
InParanoidiQ9H2A2
KOiK23234
OMAiNLEECIP
OrthoDBi899961at2759
PhylomeDBiQ9H2A2
TreeFamiTF314129

Enzyme and pathway databases

UniPathwayi
UPA00334

BRENDAi1.2.1.3 2681
ReactomeiR-HSA-5365859 RA biosynthesis pathway
SABIO-RKiQ9H2A2

Miscellaneous databases

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

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GenomeRNAii
64577

Protein Ontology

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PROi
PR:Q9H2A2

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000118514 Expressed in 161 organ(s), highest expression level in liver
ExpressionAtlasiQ9H2A2 baseline and differential
GenevisibleiQ9H2A2 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

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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 nameiAL8A1_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: Q9H2A2
Secondary accession number(s): B7Z521
, O60793, Q24JS9, Q53GT3, Q5TI80
<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: January 15, 2008
Last sequence update: March 1, 2001
Last modified: May 8, 2019
This is version 148 of the entry and version 1 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

Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Human chromosome 6
    Human chromosome 6: entries, gene names and cross-references to MIM
  3. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  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
UniProt is an ELIXIR core data resource
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