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UniProtKB - Q02252 (MMSA_HUMAN)

Entry version 202 (10 Feb 2021)
Sequence version 2 (24 Jan 2001)
Previous versions | rss
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Protein

Methylmalonate-semialdehyde dehydrogenase [acylating], mitochondrial

Gene

ALDH6A1

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

Plays a role in valine and pyrimidine metabolism. Binds fatty acyl-CoA.

<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">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

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">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 sitei317NucleophilePROSITE-ProRule annotation1
<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">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 sitei417NADSequence analysis1

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">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 bindingi209 – 213NADSequence analysis5
Nucleotide bindingi261 – 266NADSequence analysis6

<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

Complete GO annotation on QuickGO ...

GO - Biological processi

Complete GO annotation on QuickGO ...

<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		1.2.1.18, 2681
1.2.1.27, 2681

Pathway Commons web resource for biological pathway data

More...PathwayCommonsi		Q02252

Reactome - a knowledgebase of biological pathways and processes

More...Reactomei		R-HSA-70895, Branched-chain amino acid catabolism

<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%5Fand%5Ftaxonomy%5Fsection">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:
Methylmalonate-semialdehyde dehydrogenase [acylating], mitochondrial (EC:1.2.1.18, EC:1.2.1.27)
Short name:
MMSDH
Short name:
Malonate-semialdehyde dehydrogenase [acylating]
Alternative name(s):
Aldehyde dehydrogenase family 6 member A1
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">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:ALDH6A1
Synonyms:MMSDH
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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 lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">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%5Fmanual">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 14

Organism-specific databases

Human Gene Nomenclature Database

More...HGNCi		HGNC:7179, ALDH6A1

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		603178, gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_Q02252

Eukaryotic Pathogen, Vector and Host Database Resources

More...VEuPathDBi		HostDB:ENSG00000119711.12

<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

Mitochondrion

<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

Methylmalonate semialdehyde dehydrogenase deficiency (MMSDHD)1 Publication
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionA metabolic disorder characterized by elevated beta-alanine, 3-hydroxypropionic acid, and both isomers of 3-amino and 3-hydroxyisobutyric acids in urine organic acids.
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_010244446G → R in MMSDHD. 1 PublicationCorresponds to variant dbSNP:rs72552258EnsemblClinVar.1

Keywords - Diseasei

Disease variant

Organism-specific databases

DisGeNET

More...DisGeNETi		4329

MalaCards human disease database

More...MalaCardsi		ALDH6A1
MIMi614105, phenotype

Open Targets

More...OpenTargetsi		ENSG00000119711

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

More...Orphaneti		289307, Developmental delay due to methylmalonate semialdehyde dehydrogenase deficiency

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA24703

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		Q02252, Tbio

Chemistry databases

Drug and drug target database

More...DrugBanki		DB00157, NADH

Genetic variation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		ALDH6A1

Domain mapping of disease mutations (DMDM)

More...DMDMi		12643424

<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 transit peptide.<p><a href='/help/transit' target='_top'>More...</a></p>Transit peptidei1 – 33MitochondrionBy similarityAdd BLAST33
<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_000000718934 – 535Methylmalonate-semialdehyde dehydrogenase [acylating], mitochondrialAdd BLAST502

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 residuei47N6-acetyllysine; alternateBy similarity1
Modified residuei47N6-succinyllysine; alternateBy similarity1
Modified residuei52N6-acetyllysine; alternateBy similarity1
Modified residuei52N6-succinyllysine; alternateBy similarity1
Modified residuei55N6-acetyllysine; alternateBy similarity1
Modified residuei55N6-succinyllysine; alternateBy similarity1
Modified residuei76N6-acetyllysine; alternateBy similarity1
Modified residuei76N6-succinyllysine; alternateBy similarity1
Modified residuei87N6-acetyllysineBy similarity1
Modified residuei117N6-acetyllysine; alternateBy similarity1
Modified residuei117N6-succinyllysine; alternateBy similarity1
Modified residuei129N6-acetyllysine; alternateBy similarity1
Modified residuei129N6-succinyllysine; alternateBy similarity1
Modified residuei262PhosphoserineCombined sources1
Modified residuei298N6-acetyllysineBy similarity1
Modified residuei330N6-acetyllysineBy similarity1
Modified residuei331N6-acetyllysineBy similarity1
Modified residuei364N6-acetyllysine; alternateBy similarity1
Modified residuei364N6-succinyllysine; alternateBy similarity1
Modified residuei376N6-acetyllysine; alternateBy similarity1
Modified residuei376N6-succinyllysine; alternateBy similarity1
Modified residuei380PhosphoserineCombined sources1
Modified residuei391N6-succinyllysineBy similarity1
Modified residuei500N6-acetyllysineBy similarity1
Modified residuei517N6-succinyllysineBy similarity1

Keywords - PTMi

Acetylation, Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

More...EPDi		Q02252

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		Q02252

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		Q02252

MaxQB - The MaxQuant DataBase

More...MaxQBi		Q02252

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

More...PaxDbi		Q02252

PeptideAtlas

More...PeptideAtlasi		Q02252

PRoteomics IDEntifications database

More...PRIDEi		Q02252

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		58069 [Q02252-1]

2D gel databases

REPRODUCTION-2DPAGE

More...REPRODUCTION-2DPAGEi		IPI00024990

University College Dublin 2-DE Proteome Database

More...UCD-2DPAGEi		Q02252

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		Q02252

MetOSite database of methionine sulfoxide sites

More...MetOSitei		Q02252

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

More...PhosphoSitePlusi		Q02252

SwissPalm database of S-palmitoylation events

More...SwissPalmi		Q02252

<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

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000119711, Expressed in cortex of kidney and 256 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		Q02252, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		Q02252, HS

Organism-specific databases

Human Protein Atlas

More...HPAi		ENSG00000119711, Group enriched (kidney, liver)

<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%5Fsection">'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%5Fsection">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Homotetramer.

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...BioGRIDi		110472, 21 interactors

Protein interaction database and analysis system

More...IntActi		Q02252, 9 interactors

Molecular INTeraction database

More...MINTi		Q02252

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000450436

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		Q02252, 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

3D structure databases

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

More...SMRi		Q02252

Database of comparative protein structure models

More...ModBasei		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

Keywords - Domaini

Transit peptide

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG2449, Eukaryota

Ensembl GeneTree

More...GeneTreei		ENSGT00940000156110

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		Q02252

Identification of Orthologs from Complete Genome Data

More...OMAi		LWRETDV

Database for complete collections of gene phylogenies

More...PhylomeDBi		Q02252

TreeFam database of animal gene trees

More...TreeFami		TF105651

Family and domain databases

Conserved Domains Database

More...CDDi		cd07085, ALDH_F6_MMSDH, 1 hit

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
IPR016162, Ald_DH_N
IPR015590, Aldehyde_DH_dom
IPR010061, MeMal-semiAld_DH

The PANTHER Classification System

More...PANTHERi		PTHR43866, PTHR43866, 1 hit

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

TIGRFAMs; a protein family database

More...TIGRFAMsi		TIGR01722, MMSDH, 1 hit

PROSITE; a protein domain and family database

More...PROSITEi		View protein in PROSITE
PS00070, ALDEHYDE_DEHYDR_CYS, 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%5Flength">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 (2+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">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%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">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 2 <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. This section is only present in reviewed entries, i.e. in UniProtKB/Swiss-Prot.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 2 described isoforms and 1 potential isoform that is computationally mapped.Show allAlign All

Isoform 1 (identifier: Q02252-1) [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
MAALLAAAAV RARILQVSSK VKSSPTWYSA SSFSSSVPTV KLFIGGKFVE 
        60         70         80         90        100
SKSDKWIDIH NPATNEVIGR VPQATKAEMD AAIASCKRAF PAWADTSVLS 
       110        120        130        140        150
RQQVLLRYQQ LIKENLKEIA KLITLEQGKT LADAEGDVFR GLQVVEHACS 
       160        170        180        190        200
VTSLMMGETM PSITKDMDLY SYRLPLGVCA GIAPFNFPAM IPLWMFPMAM 
       210        220        230        240        250
VCGNTFLMKP SERVPGATML LAKLLQDSGA PDGTLNIIHG QHEAVNFICD 
       260        270        280        290        300
HPDIKAISFV GSNKAGEYIF ERGSRHGKRV QANMGAKNHG VVMPDANKEN 
       310        320        330        340        350
TLNQLVGAAF GAAGQRCMAL STAVLVGEAK KWLPELVEHA KNLRVNAGDQ 
       360        370        380        390        400
PGADLGPLIT PQAKERVCNL IDSGTKEGAS ILLDGRKIKV KGYENGNFVG 
       410        420        430        440        450
PTIISNVKPN MTCYKEEIFG PVLVVLETET LDEAIQIVNN NPYGNGTAIF 
       460        470        480        490        500
TTNGATARKY AHLVDVGQVG VNVPIPVPLP MFSFTGSRSS FRGDTNFYGK 
       510        520        530 
QGIQFYTQLK TITSQWKEED ATLSSPAVVM PTMGR
Length:535
Mass (Da):57,840
Last modified:January 24, 2001 - 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:i0786AF63897E7962
GO
Isoform 2 (identifier: Q02252-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     104-116: Missing.

Show »
Length:522
Mass (Da):56,228
Checksum:iFBAB6B1DA77B3ADB
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 is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
G3V4Z4G3V4Z4_HUMAN
Methylmalonate-semialdehyde dehydro...
ALDH6A1
252Annotation score:

Annotation score:2 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 conflicti101R → C in BAG57539 (PubMed:14702039).Curated1
Sequence conflicti212E → K in BAG57539 (PubMed:14702039).Curated1
Sequence conflicti460Y → H in BAG57539 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_010244446G → R in MMSDHD. 1 PublicationCorresponds to variant dbSNP:rs72552258EnsemblClinVar.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_055067104 – 116Missing in isoform 2. 1 PublicationAdd BLAST13

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
AJ249994 mRNA Translation: CAB76468.1
AF159889 mRNA Translation: AAF80380.1
AF148505 mRNA Translation: AAF04489.1
AF148855 Genomic DNA Translation: AAG29581.1
AK312389 mRNA Translation: BAG35306.1
AK294243 mRNA Translation: BAG57539.1
AC005484 Genomic DNA No translation available.
CH471061 Genomic DNA Translation: EAW81159.1
BC004909 mRNA Translation: AAH04909.1
BC032371 mRNA Translation: AAH32371.1
M93405 mRNA Translation: AAA36328.1

The Consensus CDS (CCDS) project

More...CCDSi		CCDS61501.1 [Q02252-2]
CCDS9826.1 [Q02252-1]

NCBI Reference Sequences

More...RefSeqi		NP_001265522.1, NM_001278593.1 [Q02252-2]
NP_005580.1, NM_005589.3 [Q02252-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000350259; ENSP00000342564; ENSG00000119711 [Q02252-2]
ENST00000553458; ENSP00000450436; ENSG00000119711 [Q02252-1]

Database of genes from NCBI RefSeq genomes

More...GeneIDi		4329

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:4329

UCSC genome browser

More...UCSCi		uc001xpo.5, human [Q02252-1]

Keywords - Coding sequence diversityi

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
AJ249994 mRNA Translation: CAB76468.1
AF159889 mRNA Translation: AAF80380.1
AF148505 mRNA Translation: AAF04489.1
AF148855 Genomic DNA Translation: AAG29581.1
AK312389 mRNA Translation: BAG35306.1
AK294243 mRNA Translation: BAG57539.1
AC005484 Genomic DNA No translation available.
CH471061 Genomic DNA Translation: EAW81159.1
BC004909 mRNA Translation: AAH04909.1
BC032371 mRNA Translation: AAH32371.1
M93405 mRNA Translation: AAA36328.1
CCDSiCCDS61501.1 [Q02252-2]
CCDS9826.1 [Q02252-1]
RefSeqiNP_001265522.1, NM_001278593.1 [Q02252-2]
NP_005580.1, NM_005589.3 [Q02252-1]

3D structure databases

SMRiQ02252
ModBaseiSearch...

Protein-protein interaction databases

BioGRIDi110472, 21 interactors
IntActiQ02252, 9 interactors
MINTiQ02252
STRINGi9606.ENSP00000450436

Chemistry databases

DrugBankiDB00157, NADH

PTM databases

iPTMnetiQ02252
MetOSiteiQ02252
PhosphoSitePlusiQ02252
SwissPalmiQ02252

Genetic variation databases

BioMutaiALDH6A1
DMDMi12643424

2D gel databases

REPRODUCTION-2DPAGEiIPI00024990
UCD-2DPAGEiQ02252

Proteomic databases

EPDiQ02252
jPOSTiQ02252
MassIVEiQ02252
MaxQBiQ02252
PaxDbiQ02252
PeptideAtlasiQ02252
PRIDEiQ02252
ProteomicsDBi58069 [Q02252-1]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...Antibodypediai		25547, 487 antibodies

The DNASU plasmid repository

More...DNASUi		4329

Genome annotation databases

EnsembliENST00000350259; ENSP00000342564; ENSG00000119711 [Q02252-2]
ENST00000553458; ENSP00000450436; ENSG00000119711 [Q02252-1]
GeneIDi4329
KEGGihsa:4329
UCSCiuc001xpo.5, human [Q02252-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		4329
DisGeNETi4329

GeneCards: human genes, protein and diseases

More...GeneCardsi		ALDH6A1
HGNCiHGNC:7179, ALDH6A1
HPAiENSG00000119711, Group enriched (kidney, liver)
MalaCardsiALDH6A1
MIMi603178, gene
614105, phenotype
neXtProtiNX_Q02252
OpenTargetsiENSG00000119711
Orphaneti289307, Developmental delay due to methylmalonate semialdehyde dehydrogenase deficiency
PharmGKBiPA24703
VEuPathDBiHostDB:ENSG00000119711.12

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG2449, Eukaryota
GeneTreeiENSGT00940000156110
InParanoidiQ02252
OMAiLWRETDV
PhylomeDBiQ02252
TreeFamiTF105651

Enzyme and pathway databases

BRENDAi1.2.1.18, 2681
1.2.1.27, 2681
PathwayCommonsiQ02252
ReactomeiR-HSA-70895, Branched-chain amino acid catabolism

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...BioGRID-ORCSi		4329, 2 hits in 879 CRISPR screens

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

More...ChiTaRSi		ALDH6A1, human

The Gene Wiki collection of pages on human genes and proteins

More...GeneWikii		Aldehyde_dehydrogenase_6_family,_member_A1

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

More...GenomeRNAii		4329
PharosiQ02252, Tbio

Protein Ontology

More...PROi		PR:Q02252
RNActiQ02252, protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000119711, Expressed in cortex of kidney and 256 other tissues
ExpressionAtlasiQ02252, baseline and differential
GenevisibleiQ02252, HS

Family and domain databases

CDDicd07085, ALDH_F6_MMSDH, 1 hit
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
IPR016162, Ald_DH_N
IPR015590, Aldehyde_DH_dom
IPR010061, MeMal-semiAld_DH
PANTHERiPTHR43866, PTHR43866, 1 hit
PfamiView protein in Pfam
PF00171, Aldedh, 1 hit
SUPFAMiSSF53720, SSF53720, 1 hit
TIGRFAMsiTIGR01722, MMSDH, 1 hit
PROSITEiView protein in PROSITE
PS00070, ALDEHYDE_DEHYDR_CYS, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...ProtoNeti		Search...

MobiDB: a database of protein disorder and mobility annotations

More...MobiDBi		Search...

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

<p>This subsection of the 'Entry information' section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiMMSA_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: Q02252
Secondary accession number(s): B2R609
, B4DFS8, J3KNU8, Q9UKM8
<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%5Fand%5Fisoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: July 1, 1993
Last sequence update: January 24, 2001
Last modified: February 10, 2021
This is version 202 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

Reference proteome

Documents

  1. Human chromosome 14
    Human chromosome 14: 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. SIMILARITY comments
    Index of protein domains and families
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