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Entry version 191 (29 Sep 2021)
Sequence version 3 (01 Feb 2005)
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Protein

4-trimethylaminobutyraldehyde dehydrogenase

Gene

ALDH9A1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the 'protein existence' evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

Converts gamma-trimethylaminobutyraldehyde into gamma-butyrobetaine with high efficiency (in vitro). Can catalyze the irreversible oxidation of a broad range of aldehydes to the corresponding acids in an NAD-dependent reaction, but with low efficiency.

3 Publications

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

<p>This subsection of the 'Function' section describes biophysical and chemical properties, such as maximal absorption, kinetic parameters, pH dependence, redox potentials and temperature dependence.<p><a href='/help/biophysicochemical_properties' target='_top'>More...</a></p>Kineticsi

  1. KM=68 µM for NAD1 Publication
  2. KM=32 µM for NAD1 Publication
  3. KM=4695 µM for NADP1 Publication
  4. KM=4.8 µM for gamma-trimethylaminobutyraldehyde1 Publication
  5. KM=7 µM for gamma-trimethylaminobutyraldehyde1 Publication
  6. KM=6 µM for gamma-trimethylaminobutyraldehyde1 Publication
  7. KM=53 µM for 3-trimethylaminopropanal1 Publication
  8. KM=28 µM for 4-aminobutyraldehyde1 Publication
  9. KM=67 µM for 4-aminobutyraldehyde1 Publication
  10. KM=70 µM for 4-aminobutyraldehyde1 Publication
  11. KM=7 µM for heptanal1 Publication
  12. KM=7 µM for octanal1 Publication
  13. KM=11 µM for 4-aminobutyraldehyde

pH dependencei

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

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

This protein is involved in the pathway carnitine biosynthesis, which is part of Amine and polyamine biosynthesis.2 Publications
View all proteins of this organism that are known to be involved in the pathway carnitine biosynthesis and in Amine and polyamine biosynthesis.

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection describes interesting single amino acid sites on the sequence that are not defined in any other subsection. This subsection can be displayed in different sections ('Function', 'PTM / Processing', 'Pathology and Biotech') according to its content.<p><a href='/help/site' target='_top'>More...</a></p>Sitei157Transition state stabilizerBy similarity1
<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> section 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 sitei180NADBy similarity1
<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> section is used for enzymes and indicates the residues directly involved in catalysis.<p><a href='/help/act_site' target='_top'>More...</a></p>Active sitei254Proton acceptorPROSITE-ProRule annotation1
Active sitei288NucleophilePROSITE-ProRule annotation1
Binding sitei391NADBy similarity1

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> section describes a region in the protein which binds nucleotide phosphates. It always involves more than one amino acid and includes all residues involved in nucleotide-binding.<p><a href='/help/np_bind' target='_top'>More...</a></p>Nucleotide bindingi232 – 236NADBy similarity5

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionOxidoreductase
LigandNAD

Enzyme and pathway databases

BioCyc Collection of Pathway/Genome Databases

More...
BioCyci
MetaCyc:HS06992-MONOMER

BRENDA Comprehensive Enzyme Information System

More...
BRENDAi
1.2.1.47, 2681

Pathway Commons web resource for biological pathway data

More...
PathwayCommonsi
P49189

Reactome - a knowledgebase of biological pathways and processes

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

SABIO-RK: Biochemical Reaction Kinetics Database

More...
SABIO-RKi
P49189

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

More...
UniPathwayi
UPA00118

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
4-trimethylaminobutyraldehyde dehydrogenase (EC:1.2.1.473 Publications)
Short name:
TMABA-DH1 Publication
Short name:
TMABALDH1 Publication
Alternative name(s):
Aldehyde dehydrogenase E3 isozyme1 Publication
Aldehyde dehydrogenase family 9 member A1 (EC:1.2.1.33 Publications)
Gamma-aminobutyraldehyde dehydrogenase1 Publication (EC:1.2.1.193 Publications)
R-aminobutyraldehyde dehydrogenase
Cleaved into the following chain:
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: 'Name', 'Synonyms', 'Ordered locus names' and 'ORF names'.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:ALDH9A1
Synonyms:ALDH4, ALDH7, ALDH91 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 1

Organism-specific databases

Human Gene Nomenclature Database

More...
HGNCi
HGNC:412, ALDH9A1

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
602733, gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_P49189

Eukaryotic Pathogen, Vector and Host Database Resources

More...
VEuPathDBi
HostDB:ENSG00000143149

<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

Organism-specific databases

DisGeNET

More...
DisGeNETi
223

Open Targets

More...
OpenTargetsi
ENSG00000143149

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA24706

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...
Pharosi
P49189, Tbio

Chemistry databases

ChEMBL database of bioactive drug-like small molecules

More...
ChEMBLi
CHEMBL3542434

Drug and drug target database

More...
DrugBanki
DB00157, NADH

Genetic variation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
ALDH9A1

Domain mapping of disease mutations (DMDM)

More...
DMDMi
62511242

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

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section describes the extent of a polypeptide chain in the mature protein following processing or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00004343511 – 4944-trimethylaminobutyraldehyde dehydrogenaseAdd BLAST494
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section indicates that the initiator methionine is cleaved from the mature protein.<p><a href='/help/init_met' target='_top'>More...</a></p>Initiator methionineiRemoved; alternateCombined sources1 Publication
ChainiPRO_00000564852 – 4944-trimethylaminobutyraldehyde dehydrogenase, N-terminally processedAdd BLAST493

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei2N-acetylserine; in 4-trimethylaminobutyraldehyde dehydrogenase, N-terminally processedCombined sources1 Publication1
Modified residuei30N6-acetyllysine; alternateBy similarity1
Modified residuei30N6-succinyllysine; alternateBy similarity1
Modified residuei59N6-succinyllysineBy similarity1
Modified residuei298N6-acetyllysineCombined sources1
Modified residuei303N6-acetyllysine; alternateBy similarity1
Modified residuei303N6-succinyllysine; alternateBy similarity1
Modified residuei344N6-acetyllysineBy similarity1

Keywords - PTMi

Acetylation

Proteomic databases

The CPTAC Assay portal

More...
CPTACi
CPTAC-309
CPTAC-310

Encyclopedia of Proteome Dynamics

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EPDi
P49189

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
P49189

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...
MassIVEi
P49189

MaxQB - The MaxQuant DataBase

More...
MaxQBi
P49189

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

More...
PaxDbi
P49189

PeptideAtlas

More...
PeptideAtlasi
P49189

PRoteomics IDEntifications database

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PRIDEi
P49189

ProteomicsDB: a multi-organism proteome resource

More...
ProteomicsDBi
5480
55968 [P49189-1]

2D gel databases

REPRODUCTION-2DPAGE

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REPRODUCTION-2DPAGEi
IPI00479877

PTM databases

GlyGen: Computational and Informatics Resources for Glycoscience

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GlyGeni
P49189, 1 site, 1 O-linked glycan (1 site)

iPTMnet integrated resource for PTMs in systems biology context

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iPTMneti
P49189

MetOSite database of methionine sulfoxide sites

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MetOSitei
P49189

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

More...
PhosphoSitePlusi
P49189

SwissPalm database of S-palmitoylation events

More...
SwissPalmi
P49189

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the 'Expression' section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified 'at protein level'.<br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Detected in brain (at protein level) (PubMed:8645224). High expression in adult liver, skeletal muscle, and kidney. Low levels in heart, pancreas, lung and brain (PubMed:8786138). Expressed in all regions of the brain. Expression levels are variable in the different brain areas, with the highest levels in the spinal cord and the lowest in the occipital pole.2 Publications

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

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

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000143149, Expressed in right adrenal gland and 124 other tissues

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
P49189, HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
ENSG00000143149, 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

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...
BioGRIDi
106725, 45 interactors

Protein interaction database and analysis system

More...
IntActi
P49189, 10 interactors

Molecular INTeraction database

More...
MINTi
P49189

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000346827

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...
RNActi
P49189, 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

1494
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

Small Angle Scattering Biological Data Bank

More...
SASBDBi
P49189

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

More...
SMRi
P49189

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

Ensembl GeneTree

More...
GeneTreei
ENSGT00940000163309

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
CLU_005391_0_0_1

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
P49189

Identification of Orthologs from Complete Genome Data

More...
OMAi
PMPIAAW

Database of Orthologous Groups

More...
OrthoDBi
538179at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
P49189

TreeFam database of animal gene trees

More...
TreeFami
TF314257

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

More...
Gene3Di
3.40.309.10, 1 hit
3.40.605.10, 1 hit

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR016161, Ald_DH/histidinol_DH
IPR016163, Ald_DH_C
IPR016160, Ald_DH_CS_CYS
IPR029510, Ald_DH_CS_GLU
IPR016162, Ald_DH_N
IPR015590, Aldehyde_DH_dom

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF00171, Aldedh, 1 hit

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF53720, SSF53720, 1 hit

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS00070, ALDEHYDE_DEHYDR_CYS, 1 hit
PS00687, ALDEHYDE_DEHYDR_GLU, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (3)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is in its mature form or if it represents the precursor.<p><a href='/help/sequence_processing' target='_top'>More...</a></p>Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 3 <p>This subsection of the 'Sequence' section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing and alternative initiation. AlignAdd to basket
Isoform 1 (identifier: P49189-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MSTGTFVVSQ PLNYRGGARV EPADASGTEK AFEPATGRVI ATFTCSGEKE
60 70 80 90 100
VNLAVQNAKA AFKIWSQKSG MERCRILLEA ARIIREREDE IATMECINNG
110 120 130 140 150
KSIFEARLDI DISWQCLEYY AGLAASMAGE HIQLPGGSFG YTRREPLGVC
160 170 180 190 200
VGIGAWNYPF QIASWKSAPA LACGNAMVFK PSPFTPVSAL LLAEIYSEAG
210 220 230 240 250
VPPGLFNVVQ GGAATGQFLC QHPDVAKVSF TGSVPTGMKI MEMSAKGIKP
260 270 280 290 300
VTLELGGKSP LIIFSDCDMN NAVKGALMAN FLTQGQVCCN GTRVFVQKEI
310 320 330 340 350
LDKFTEEVVK QTQRIKIGDP LLEDTRMGPL INRPHLERVL GFVKVAKEQG
360 370 380 390 400
AKVLCGGDIY VPEDPKLKDG YYMRPCVLTN CRDDMTCVKE EIFGPVMSIL
410 420 430 440 450
SFDTEAEVLE RANDTTFGLA AGVFTRDIQR AHRVVAELQA GTCFINNYNV
460 470 480 490
SPVELPFGGY KKSGFGRENG RVTIEYYSQL KTVCVEMGDV ESAF
Length:494
Mass (Da):53,802
Last modified:February 1, 2005 - v3
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:i1E1CDF910D763BA1
GO
Isoform 2 (identifier: P49189-2) [UniParc]FASTAAdd to basket

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

Note: Produced by alternative splicing.Curated
Show »
Length:424
Mass (Da):46,455
Checksum:i211F5F4B06E9B453
GO
Isoform 3 (identifier: P49189-3) [UniParc]FASTAAdd to basket

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

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

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti19 – 25RVEPADA → AGAGGR in AAB18827 (PubMed:8786138).Curated7
Sequence conflicti150C → Q AA sequence (PubMed:8269919).Curated1
Sequence conflicti159P → W AA sequence (PubMed:8269919).Curated1
Sequence conflicti172A → R AA sequence (PubMed:8269919).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_011304116C → S in allele ALDH9A1*2. 2 Publications1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_0563051 – 70Missing in isoform 2. 1 PublicationAdd BLAST70
Alternative sequenceiVSP_0600451M → MFLRAGLAALSPLLRSLRPS PVAAM in isoform 3. 1

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

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

The Consensus CDS (CCDS) project

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CCDSi
CCDS1250.2 [P49189-3]

Protein sequence database of the Protein Information Resource

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PIRi
G02054, S39532

NCBI Reference Sequences

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

Genome annotation databases

Ensembl eukaryotic genome annotation project

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Ensembli
ENST00000354775; ENSP00000346827; ENSG00000143149 [P49189-3]

Database of genes from NCBI RefSeq genomes

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GeneIDi
223

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:223

UCSC genome browser

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UCSCi
uc001gdh.2, human [P49189-1]

Keywords - Coding sequence diversityi

Alternative initiation, Alternative splicing

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

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

Sequence databases

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

3D structure databases

Select the link destinations:

Protein Data Bank Europe

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PDBei

Protein Data Bank RCSB

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RCSB PDBi

Protein Data Bank Japan

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PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
6QAKX-ray2.50A/B/C/D/E/F/G/H1-494[»]
6QAOX-ray2.89A/B/C/D/E/F/G/H1-494[»]
6QAPX-ray2.30A/B/C/D1-494[»]
6VR6X-ray2.50A/B/C/D/E/F/G/H2-494[»]
6VWFX-ray2.64A/B1-494[»]
SASBDBiP49189
SMRiP49189
ModBaseiSearch...
PDBe-KBiSearch...

Protein-protein interaction databases

BioGRIDi106725, 45 interactors
IntActiP49189, 10 interactors
MINTiP49189
STRINGi9606.ENSP00000346827

Chemistry databases

ChEMBLiCHEMBL3542434
DrugBankiDB00157, NADH

PTM databases

GlyGeniP49189, 1 site, 1 O-linked glycan (1 site)
iPTMnetiP49189
MetOSiteiP49189
PhosphoSitePlusiP49189
SwissPalmiP49189

Genetic variation databases

BioMutaiALDH9A1
DMDMi62511242

2D gel databases

REPRODUCTION-2DPAGEiIPI00479877

Proteomic databases

CPTACiCPTAC-309
CPTAC-310
EPDiP49189
jPOSTiP49189
MassIVEiP49189
MaxQBiP49189
PaxDbiP49189
PeptideAtlasiP49189
PRIDEiP49189
ProteomicsDBi5480
55968 [P49189-1]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

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Antibodypediai
1661, 256 antibodies

The DNASU plasmid repository

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DNASUi
223

Genome annotation databases

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

Organism-specific databases

Comparative Toxicogenomics Database

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CTDi
223
DisGeNETi223

GeneCards: human genes, protein and diseases

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GeneCardsi
ALDH9A1
HGNCiHGNC:412, ALDH9A1
HPAiENSG00000143149, Low tissue specificity
MIMi602733, gene
neXtProtiNX_P49189
OpenTargetsiENSG00000143149
PharmGKBiPA24706
VEuPathDBiHostDB:ENSG00000143149

GenAtlas: human gene database

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GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG2450, Eukaryota
GeneTreeiENSGT00940000163309
HOGENOMiCLU_005391_0_0_1
InParanoidiP49189
OMAiPMPIAAW
OrthoDBi538179at2759
PhylomeDBiP49189
TreeFamiTF314257

Enzyme and pathway databases

UniPathwayiUPA00118
BioCyciMetaCyc:HS06992-MONOMER
BRENDAi1.2.1.47, 2681
PathwayCommonsiP49189
ReactomeiR-HSA-71262, Carnitine synthesis
SABIO-RKiP49189

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

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BioGRID-ORCSi
223, 38 hits in 1017 CRISPR screens

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

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ChiTaRSi
ALDH9A1, human

The Gene Wiki collection of pages on human genes and proteins

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GeneWikii
Aldehyde_dehydrogenase_9_family,_member_A1

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

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GenomeRNAii
223
PharosiP49189, Tbio

Protein Ontology

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PROi
PR:P49189
RNActiP49189, protein

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
Search...

Gene expression databases

BgeeiENSG00000143149, Expressed in right adrenal gland and 124 other tissues
GenevisibleiP49189, HS

Family and domain databases

Gene3Di3.40.309.10, 1 hit
3.40.605.10, 1 hit
InterProiView protein in InterPro
IPR016161, Ald_DH/histidinol_DH
IPR016163, Ald_DH_C
IPR016160, Ald_DH_CS_CYS
IPR029510, Ald_DH_CS_GLU
IPR016162, Ald_DH_N
IPR015590, Aldehyde_DH_dom
PfamiView protein in Pfam
PF00171, Aldedh, 1 hit
SUPFAMiSSF53720, SSF53720, 1 hit
PROSITEiView protein in PROSITE
PS00070, ALDEHYDE_DEHYDR_CYS, 1 hit
PS00687, ALDEHYDE_DEHYDR_GLU, 1 hit

MobiDB: a database of protein disorder and mobility annotations

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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 nameiAL9A1_HUMAN
<p>This subsection of the 'Entry information' section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called 'Primary (citable) accession number'.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: P49189
Secondary accession number(s): B2R6X1
, B4DXY7, B9EKV4, Q5VV90, Q6LCL1, Q9NZT7
<p>This subsection of the 'Entry information' section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification ('Last modified'). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: February 1, 1996
Last sequence update: February 1, 2005
Last modified: September 29, 2021
This is version 191 of the entry and version 3 of the sequence. See complete history.
<p>This subsection of the 'Entry information' section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

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

Keywords - Technical termi

3D-structure, Direct protein sequencing, Reference proteome

Documents

  1. Human chromosome 1
    Human chromosome 1: 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
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