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Aliases for ALDH6A1 Gene

Aliases for ALDH6A1 Gene

  • Aldehyde Dehydrogenase 6 Family, Member A1 2 3
  • MMSDH 3 4 6
  • Methylmalonate-Semialdehyde Dehydrogenase [Acylating], Mitochondrial 3
  • Mitochondrial Acylating Methylmalonate-Semialdehyde Dehydrogenase 3
  • Malonate-Semialdehyde Dehydrogenase [Acylating] 4
  • Aldehyde Dehydrogenase Family 6 Member A1 4
  • Malonate-Semialdehyde Dehydrogenase 3
  • EC 1.2.1.18 4
  • EC 1.2.1.27 4
  • MMSADHA 3

External Ids for ALDH6A1 Gene

Previous Symbols for ALDH6A1 Gene

  • MMSDH

Summaries for ALDH6A1 Gene

Entrez Gene Summary for ALDH6A1 Gene

  • This gene encodes a member of the aldehyde dehydrogenase protein family. The encoded protein is a mitochondrial methylmalonate semialdehyde dehydrogenase that plays a role in the valine and pyrimidine catabolic pathways. This protein catalyzes the irreversible oxidative decarboxylation of malonate and methylmalonate semialdehydes to acetyl- and propionyl-CoA. Methylmalonate semialdehyde dehydrogenase deficiency is characterized by elevated beta-alanine, 3-hydroxypropionic acid, and both isomers of 3-amino and 3-hydroxyisobutyric acids in urine organic acids. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jun 2013]

GeneCards Summary for ALDH6A1 Gene

ALDH6A1 (Aldehyde Dehydrogenase 6 Family, Member A1) is a Protein Coding gene. Diseases associated with ALDH6A1 include methylmalonate semialdehyde dehydrogenase deficiency and developmental delay due to methylmalonate semialdehyde dehydrogenase deficiency. Among its related pathways are Metabolism and Metabolism. GO annotations related to this gene include fatty-acyl-CoA binding and malonate-semialdehyde dehydrogenase (acetylating) activity. An important paralog of this gene is ALDH1A2.

UniProtKB/Swiss-Prot for ALDH6A1 Gene

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

Gene Wiki entry for ALDH6A1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ALDH6A1 Gene

Genomics for ALDH6A1 Gene

Genomic Location for ALDH6A1 Gene

Start:
74,056,850 bp from pter
End:
74,084,493 bp from pter
Size:
27,644 bases
Orientation:
Minus strand

Genomic View for ALDH6A1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for ALDH6A1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ALDH6A1 Gene

Regulatory Elements for ALDH6A1 Gene

Proteins for ALDH6A1 Gene

  • Protein details for ALDH6A1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q02252-MMSA_HUMAN
    Recommended name:
    Methylmalonate-semialdehyde dehydrogenase [acylating], mitochondrial
    Protein Accession:
    Q02252
    Secondary Accessions:
    • B2R609
    • B4DFS8
    • J3KNU8
    • Q9UKM8

    Protein attributes for ALDH6A1 Gene

    Size:
    535 amino acids
    Molecular mass:
    57840 Da
    Quaternary structure:
    • Homotetramer

    Alternative splice isoforms for ALDH6A1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ALDH6A1 Gene

Proteomics data for ALDH6A1 Gene at MOPED

Post-translational modifications for ALDH6A1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for ALDH6A1 Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

No data available for DME Specific Peptides for ALDH6A1 Gene

Domains for ALDH6A1 Gene

Gene Families for ALDH6A1 Gene

HGNC:
  • ALDH :Aldehyde dehydrogenases

UniProtKB/Swiss-Prot:

MMSA_HUMAN
Family:
  • Belongs to the aldehyde dehydrogenase family.:
    • Q02252
genes like me logo Genes that share domains with ALDH6A1: view

Function for ALDH6A1 Gene

Molecular function for ALDH6A1 Gene

UniProtKB/Swiss-Prot CatalyticActivity: 2-methyl-3-oxopropanoate + CoA + H(2)O + NAD(+) = propanoyl-CoA + HCO(3)(-) + NADH
UniProtKB/Swiss-Prot CatalyticActivity: 3-oxopropanoate + CoA + NAD(P)(+) = acetyl-CoA + CO(2) + NAD(P)H
UniProtKB/Swiss-Prot Function: Plays a role in valine and pyrimidine metabolism. Binds fatty acyl-CoA

Enzyme Numbers (IUBMB) for ALDH6A1 Gene

Gene Ontology (GO) - Molecular Function for ALDH6A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000062 fatty-acyl-CoA binding ISS --
GO:0004029 aldehyde dehydrogenase (NAD) activity IBA --
GO:0004491 methylmalonate-semialdehyde dehydrogenase (acylating) activity ISS --
GO:0016491 oxidoreductase activity --
GO:0018478 malonate-semialdehyde dehydrogenase (acetylating) activity ISS --
genes like me logo Genes that share ontologies with ALDH6A1: view

miRNA for ALDH6A1 Gene

miRTarBase miRNAs that target ALDH6A1

No data available for Phenotypes , Animal Models , Transcription Factor Targeting and HOMER Transcription for ALDH6A1 Gene

Localization for ALDH6A1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ALDH6A1 Gene

Mitochondrion.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for ALDH6A1 Gene COMPARTMENTS Subcellular localization image for ALDH6A1 gene
Compartment Confidence
mitochondrion 5
nucleus 4

Gene Ontology (GO) - Cellular Components for ALDH6A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus --
GO:0005654 nucleoplasm IDA --
GO:0005739 mitochondrion NAS 1527093
GO:0005759 mitochondrial matrix TAS --
GO:0070062 extracellular exosome IDA 23376485
genes like me logo Genes that share ontologies with ALDH6A1: view

Pathways for ALDH6A1 Gene

genes like me logo Genes that share pathways with ALDH6A1: view

Gene Ontology (GO) - Biological Process for ALDH6A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006210 thymine catabolic process IMP 23835272
GO:0006573 valine metabolic process ISS --
GO:0006574 valine catabolic process IMP 23835272
GO:0008152 metabolic process --
GO:0009083 branched-chain amino acid catabolic process TAS --
genes like me logo Genes that share ontologies with ALDH6A1: view

Compounds for ALDH6A1 Gene

(39) HMDB Compounds for ALDH6A1 Gene

Compound Synonyms Cas Number PubMed IDs
(2E)-Decenoyl-CoA
  • (E)-S-2-decenoate Coenzyme A
10018-95-8
(2E)-Dodecenoyl-CoA
  • 2-trans-Dodecenoyl-Coenzyme A
1066-12-2
(2E)-Hexadecenoyl-CoA
  • trans-2-Hexadecenoyl-CoA
4460-95-1
(2E)-Octenoyl-CoA
  • (E)-S-2-octenoate Coenzyme A
10018-94-7
(2E)-Tetradecenoyl-CoA
  • (2E)-Tetradecenoyl-Coenzyme A
38795-33-4

(1) Drugbank Compounds for ALDH6A1 Gene

Compound Synonyms Cas Number Type Actions PubMed IDs
NADH
  • beta-DPNH
606-68-8 target

(2) Novoseek inferred chemical compound relationships for ALDH6A1 Gene

Compound -log(P) Hits PubMed IDs
methylmalonate semialdehyde 98.4 3
gibberellin 71.5 2
genes like me logo Genes that share compounds with ALDH6A1: view

Transcripts for ALDH6A1 Gene

Unigene Clusters for ALDH6A1 Gene

Aldehyde dehydrogenase 6 family, member A1:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for ALDH6A1 Gene

No ASD Table

Relevant External Links for ALDH6A1 Gene

GeneLoc Exon Structure for
ALDH6A1
ECgene alternative splicing isoforms for
ALDH6A1

Expression for ALDH6A1 Gene

mRNA expression in normal human tissues for ALDH6A1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for ALDH6A1 Gene

This gene is overexpressed in Liver (4.8) and Kidney - Cortex (4.0).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for ALDH6A1 Gene

SOURCE GeneReport for Unigene cluster for ALDH6A1 Gene Hs.293970

genes like me logo Genes that share expressions with ALDH6A1: view

Orthologs for ALDH6A1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for ALDH6A1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ALDH6A1 37
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia ALDH6A1 36
  • 92.37 (n)
  • 94.66 (a)
ALDH6A1 37
  • 94 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ALDH6A1 36
  • 93.97 (n)
  • 96.73 (a)
ALDH6A1 37
  • 96 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Aldh6a1 36
  • 90.71 (n)
  • 95.19 (a)
Aldh6a1 16
Aldh6a1 37
  • 95 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia ALDH6A1 37
  • 89 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ALDH6A1 37
  • 73 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Aldh6a1 36
  • 90.9 (n)
  • 95.38 (a)
chicken
(Gallus gallus)
Aves ALDH6A1 36
  • 78.16 (n)
  • 86.32 (a)
ALDH6A1 37
  • 83 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ALDH6A1 37
  • 84 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.27081 36
tropical clawed frog
(Silurana tropicalis)
Amphibia aldh6a1 36
  • 74.95 (n)
  • 82.77 (a)
Str.11774 36
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.13788 36
zebrafish
(Danio rerio)
Actinopterygii aldh6a1 36
  • 74.55 (n)
  • 83.97 (a)
aldh6a1 37
  • 82 (a)
OneToOne
Dr.7336 36
African malaria mosquito
(Anopheles gambiae)
Insecta MMSA_ANOGA 36
  • 66.2 (n)
  • 70.42 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG17896 36
  • 66.67 (n)
  • 68.55 (a)
CG17896 37
  • 67 (a)
OneToOne
EG:171D11.1 38
  • 68 (a)
worm
(Caenorhabditis elegans)
Secernentea alh-8 36
  • 65.45 (n)
  • 68.69 (a)
alh-8 37
  • 66 (a)
OneToOne
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.10117 36
thale cress
(Arabidopsis thaliana)
eudicotyledons ALDH6B2 36
  • 59.76 (n)
  • 59.96 (a)
barley
(Hordeum vulgare)
Liliopsida Hv.1343 36
rice
(Oryza sativa)
Liliopsida Os.1984 36
Os07g0188800 36
  • 60.92 (n)
  • 60.45 (a)
wheat
(Triticum aestivum)
Liliopsida Ta.2907 36
bread mold
(Neurospora crassa)
Ascomycetes NCU09266 36
  • 57.1 (n)
  • 59.77 (a)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.3629 36
sea squirt
(Ciona savignyi)
Ascidiacea CSA.1712 37
  • 71 (a)
OneToOne
Species with no ortholog for ALDH6A1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)

Evolution for ALDH6A1 Gene

ENSEMBL:
Gene Tree for ALDH6A1 (if available)
TreeFam:
Gene Tree for ALDH6A1 (if available)

Paralogs for ALDH6A1 Gene

Selected SIMAP similar genes for ALDH6A1 Gene using alignment to 3 proteins:

Pseudogenes.org Pseudogenes for ALDH6A1 Gene

genes like me logo Genes that share paralogs with ALDH6A1: view

Variants for ALDH6A1 Gene

Sequence variations from dbSNP and Humsavar for ALDH6A1 Gene

SNP ID Clin Chr 14 pos Sequence Context AA Info Type MAF
rs765719 -- 74,074,781(-) AAACA(G/T)TTTCA intron-variant
rs765720 -- 74,074,623(-) CAGAA(A/G)TATGC intron-variant
rs765721 -- 74,074,479(-) GGAAA(C/T)CACAT intron-variant
rs1125606 -- 74,067,117(-) CCTGC(C/G)TCAGC intron-variant
rs1468508 -- 74,075,581(-) CTCCC(A/G)GGCTG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for ALDH6A1 Gene

Variant ID Type Subtype PubMed ID
esv2660368 CNV Deletion 23128226
dgv642e1 CNV Complex 17122850
esv22046 CNV Loss 19812545

Relevant External Links for ALDH6A1 Gene

HapMap Linkage Disequilibrium report
ALDH6A1
Human Gene Mutation Database (HGMD)
ALDH6A1

Disorders for ALDH6A1 Gene

(1) OMIM Diseases for ALDH6A1 Gene (603178)

UniProtKB/Swiss-Prot

MMSA_HUMAN
  • Methylmalonate semialdehyde dehydrogenase deficiency (MMSDHD) [MIM:614105]: A metabolic disorder characterized by elevated beta-alanine, 3-hydroxypropionic acid, and both isomers of 3-amino and 3-hydroxyisobutyric acids in urine organic acids. {ECO:0000269 PubMed:10947204}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(1) University of Copenhagen DISEASES for ALDH6A1 Gene

Relevant External Links for ALDH6A1

Genetic Association Database (GAD)
ALDH6A1
Human Genome Epidemiology (HuGE) Navigator
ALDH6A1
genes like me logo Genes that share disorders with ALDH6A1: view

Publications for ALDH6A1 Gene

  1. CoA-dependent methylmalonate-semialdehyde dehydrogenase, a unique member of the aldehyde dehydrogenase superfamily. cDNA cloning, evolutionary relationships, and tissue distribution. (PMID: 1527093) Kedishvili N.Y. … Harris R.A. (J. Biol. Chem. 1992) 2 3 4 23
  2. Molecular characterization of methylmalonate semialdehyde dehydrogenase deficiency. (PMID: 10947204) Chambliss K.L. … Gibson K.M. (J. Inherit. Metab. Dis. 2000) 3 4 23
  3. Association study between single-nucleotide polymorphisms in 199 drug-related genes and commonly measured quantitative traits of 752 healthy Japanese subjects. (PMID: 19343046) Saito A. … Kamatani N. (J. Hum. Genet. 2009) 3 49
  4. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose J.E. … Uhl G.R. (Mol. Med. 2010) 3 49
  5. Web-based, participant-driven studies yield novel genetic associations for common traits. (PMID: 20585627) Eriksson N. … Mountain J. (PLoS Genet. 2010) 3 49

Products for ALDH6A1 Gene

Sources for ALDH6A1 Gene

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