You are using an outdated browser. Please upgrade your browser to improve your experience.

Tbio
ALDH6A1
Methylmalonate-semialdehyde dehydrogenase [acylating], mitochondrial

Protein Summary
Description
Plays a role in valine and pyrimidine metabolism. Binds fatty acyl-CoA. 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]
Uniprot Accession IDs
Gene Name
Ensembl ID
  • ENST00000350259
  • ENSP00000342564
  • ENSG00000119711
  • ENST00000553458
  • ENSP00000450436

Symbol
  • MMSDH
  • MMSDH
  • MMSADHA
Illumination Graph
Knowledge Table
Most Knowledge About
Knowledge Value (0 to 1 scale)
transcription factor perturbation
0.97
histone modification site profile
0.9
disease perturbation
0.87
protein domain
0.85
virus perturbation
0.76


IDG Development Level Summary
Tdark

These are targets about which virtually nothing is known. They do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 25.94   (req: < 5)
Gene RIFs: 5   (req: <= 3)
Antibodies: 473   (req: <= 50)
Tbio

These targets do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 25.94   (req: >= 5)
Gene RIFs: 5   (req: > 3)
Antibodies: 473   (req: > 50)

- OR - satisfy the following criterion:

Gene Ontology Terms: 10
Tchem

Target has at least one ChEMBL compound with an activity cutoff of < 30 nM - AND - satisfies the preceding conditions

Active Ligand: 0
Tclin

Target has at least one approved drug - AND - satisfies the preceding conditions

Active Drug: 0
Protein Sequence and Structure
Residue Counts
Protein Sequence
ProtVista Viewer
Expression Data (0 Tissues)
No expression data found
Related Tools
Target Illumination GWAS Analytics (TIGA)
Thumbnail image for Target Illumination GWAS Analytics (TIGA)
TIGA scores and ranks GWAS discovered associations according to the quantity and quality of the evidence supporting the association.
GENEVA
Thumbnail image for GENEVA
GENEVA (GENe Expression Variance Analysis) allows you to identify RNA-sequencing datasets from the Gene Expression Omnibus (GEO) that contain conditions modulating a gene or a gene signature.
GlyGen
Thumbnail image for GlyGen
GlyGen is a data integration and dissemination project for carbohydrate and glycoconjugate related data.
ARCHS4
Thumbnail image for ARCHS4
ARCHS4 provides access to gene-function predictions based on RNA-seq co-expression, and gene expression levels across cell and tissues.
Approved Drugs (0)
No approved drugs found
Active Ligands (0)
No active ligands found
Protein-Protein Interactions (87)
ALDH2
Tclin
Family:  Enzyme
Novelty:  0.00077122
p_int:  0.999999852
p_ni:  1.48e-7
p_wrong:  1e-9
Score:  0.952
Data Source:  BioPlex,STRINGDB
ALDH8A1
Tbio
Family:  Enzyme
Novelty:  0.09598756
p_int:  0.999999384
p_ni:  6.16e-7
Score:  0.658
Data Source:  BioPlex,STRINGDB
POLG2
Tbio
Family:  Enzyme
Novelty:  0.0233323
p_int:  0.999960294
p_ni:  0.000039706
Score:  0.225
Data Source:  BioPlex,STRINGDB
LAMP2
Tbio
Novelty:  0.00168009
p_int:  0.973859452
p_ni:  0.026099587
p_wrong:  0.000040961
Score:  0.158
Data Source:  BioPlex,STRINGDB
ABRAXAS1
Tbio
Novelty:  0.07078408
p_int:  0.822230408
p_ni:  0.174911637
p_wrong:  0.002857955
Score:  0.197
Data Source:  BioPlex,STRINGDB
HIBADH
Tbio
Family:  Enzyme
Novelty:  0.03861647
Score:  0.997
Data Source:  STRINGDB
HADH
Tbio
Family:  Enzyme
Novelty:  0.00368073
Score:  0.971
Data Source:  STRINGDB
PCCB
Tbio
Family:  Enzyme
Novelty:  0.01085161
Score:  0.962
Data Source:  STRINGDB
ACADM
Tbio
Family:  Enzyme
Novelty:  0.00548721
Score:  0.96
Data Source:  STRINGDB
ABAT
Tclin
Family:  Enzyme
Novelty:  0.0078359
Score:  0.959
Data Source:  STRINGDB
Nearest Tclin Targets (3)
Explore Nearest Tclin Targets
Pathways (13)
Branched-chain amino acid catabolism (R-HSA-70895)

Click on a row in the table to change the structure displayed.

Find Similar Targets
Items per page:
1 – 3 of 3
Data Source
Name
Explore in Pharos
Explore in Source
Reactome
Branched-chain amino acid catabolism
Reactome
Metabolism
Reactome
Metabolism of amino acids and derivatives
Name
Explore in Pharos
Explore in Source
Branched-chain amino acid catabolism
Metabolism
Metabolism of amino acids and derivatives
Viral Interactions (0)
No viral interactions found
Gene Ontology Terms (13)
Find Similar Targets
Items per page:
10
1 – 4 of 4
GO Term
Evidence
Assigned by
Inferred from Mutant Phenotype (IMP)
BHF-UCL
Inferred from High Throughput Direct Assay (HDA)
UniProtKB
Inferred from Sequence or structural Similarity (ISS)
UniProtKB
Inferred from Sequence or structural Similarity (ISS)
UniProtKB
Disease Associations ()
No disease associations found
GWAS Traits (6)
GWAS Trait
EFO ID
Study Count
SNP Count
Beta Count
Odds Ratio
Evidence (Mean Rank Score)
Provenance
red blood cell distribution width
4
3
5
97.8
ganglion cell inner plexiform layer thickness measurement
1
1
1
59
self reported educational attainment
1
1
1
40.7
mean corpuscular volume
1
1
1
39.6
mean reticulocyte volume
1
1
1
26.6
GWAS Trait
EFO ID
Beta Count
Odds Ratio
Evidence (Mean Rank Score)
Provenance
red blood cell distribution width
5
97.8
ganglion cell inner plexiform layer thickness measurement
1
59
self reported educational attainment
1
40.7
mean corpuscular volume
1
39.6
mean reticulocyte volume
1
26.6
Find similar targets by:
IDG Resources
No IDG generated resources found
Orthologs (15)
1 – 5 of 15
Species
Name
Source ID
Gene ID
OMA
EggNOG
Inparanoid
Chimp
aldehyde dehydrogenase 6 family member A1
VGNC:12971
467506
Macaque
aldehyde dehydrogenase 6 family member A1
698755
Mouse
MGI:1915077
104776
Rat
RGD:621556
81708
Dog
aldehyde dehydrogenase 6 family member A1
VGNC:37788
490779
Species
Name
OMA
EggNOG
Inparanoid
Chimp
aldehyde dehydrogenase 6 family member A1
Macaque
aldehyde dehydrogenase 6 family member A1
Mouse
Rat
Dog
aldehyde dehydrogenase 6 family member A1
Publication Statistics
PubMed Score 25.94
PubMed score by year
PubTator Score 6.94
PubTator score by year
loading...
Related Publications
Items per page:
0 of 0
PMID
Year
Title