Functions and Diseases

RBP Type Non-canonical_RBPs
Diseases Disease
Drug N.A.
Main interacting RNAs N.A.
Moonlighting functions Metabolic enzyme
Localizations N.A.
BulkPerturb-seq

Description

Ensembl ID ENSG00000119711 Gene ID 4329 Accession 7179
Symbol ALDH6A1 Alias MMSDH;MMSADHA Full Name aldehyde dehydrogenase 6 family member A1
Status Confidence Length 27607 bases Strand Minus strand
Position 14 : 74056847 - 74084453 RNA binding domain N.A.
Summary 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]

RNA binding domains (RBDs)

Protein Domain Pfam ID E-value Domain number

RNA binding proteomes (RBPomes)

Pubmed ID Full Name Cell Author Time Doi

Literatures on RNA binding capacity

Pubmed ID Title Author Time Journal
31213602 CAPRI enables comparison of evolutionarily conserved RNA interacting regions. Amol Panhale 2019-06-18 Nature communications

Transcripts

Name Transcript ID bp Protein Translation ID
ALDH6A1-202 ENST00000553458 5462 535aa ENSP00000450436
ALDH6A1-205 ENST00000554501 2221 No protein -
ALDH6A1-201 ENST00000350259 1869 522aa ENSP00000342564
ALDH6A1-206 ENST00000555126 1382 252aa ENSP00000452081
ALDH6A1-204 ENST00000554231 1323 No protein -
ALDH6A1-203 ENST00000553814 580 No protein -
ALDH6A1-207 ENST00000556852 726 No protein -

Pathways

Pathway ID Pathway Name Source

Phenotypes

ensgID Trait pValue Pubmed ID
44416Platelet Function Tests5.4178840E-010-
44422Platelet Function Tests7.8994069E-007-
44492Platelet Function Tests5.4178840E-010-
44498Platelet Function Tests7.8994069E-007-
96134Circadian Rhythm3E-720585627

GWAS

ensgIDSNPChromosomePosition TraitPubmedIDOr or BEAT EFO ID

Protein-Protein Interaction (PPI)

Paralogs

Ensembl ID Source Target
Species Protein ID Perc_pos Perc_id Species Protein ID Perc_pos Perc_id

Orthologs

Ensembl ID Source Target
Species Protein ID Perc_pos Perc_id Species Protein ID Perc_pos Perc_id

Gene Ontology

Go ID Go term No. evidence Entries Species Category
GO:0000062enables fatty-acyl-CoA binding1ISSHomo_sapiens(9606)Function
GO:0003723enables RNA binding1HDAHomo_sapiens(9606)Function
GO:0004491enables methylmalonate-semialdehyde dehydrogenase (acylating) activity4IBA,IMP,ISS,TASHomo_sapiens(9606)Function
GO:0005654located_in nucleoplasm1IDAHomo_sapiens(9606)Component
GO:0005739is_active_in mitochondrion3IBA,IDA,NASHomo_sapiens(9606)Component
GO:0005759located_in mitochondrial matrix1TASHomo_sapiens(9606)Component
GO:0006210involved_in thymine catabolic process2IBA,IMPHomo_sapiens(9606)Process
GO:0006573involved_in valine metabolic process1ISSHomo_sapiens(9606)Process
GO:0006574involved_in valine catabolic process2IBA,IMPHomo_sapiens(9606)Process
GO:0009083involved_in branched-chain amino acid catabolic process1TASHomo_sapiens(9606)Process
GO:0018478enables malonate-semialdehyde dehydrogenase (acetylating) activity2IBA,ISSHomo_sapiens(9606)Function
GO:0019859involved_in thymine metabolic process1ISSHomo_sapiens(9606)Process
GO:0050873involved_in brown fat cell differentiation1IEAHomo_sapiens(9606)Process
GO:0102662enables malonate-semialdehyde dehydrogenase (acetylating, NAD+) activity1IEAHomo_sapiens(9606)Function

Expression