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Repository for lectin-assisted multimodality data

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Guidelines

MIRAGE

aldehyde dehydrogenase 6 family member A1

Summary

Gene Symbol

ALDH6A1

Aliases

malonate-semialdehyde dehydrogenase (acetylating)

Organism

Homo sapiens (human)

External Links

NCBI Gene

4329

HGNC

7179

KEGG Gene ID

hsa:4329

PubChem

4329

Alliance of Genome Resources

HGNC:7179

JoGo

ALDH6A1

TogoVar

ALDH6A1

Annotation

Keyword

3D-structure
Acetylation
Alternative splicing
Disease variant
Mitochondrion
NAD
Oxidoreductase
Phosphoprotein
Proteomics identification
Reference proteome
Transit peptide

Proteins

Displaying **all 2** entries
UniProt	Protein Name
A0A024R6G4	Aldehyde dehydrogenase family 6 member A1
Q02252	Aldehyde dehydrogenase family 6 member A1 Malonate-semialdehyde dehydrogenase [acylating]

Annotation information from UniProt.

Gene Ontology (GO)

Displaying entries **1 - 5** of 9 in total

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GO Term	Evidence Code	PMID
thymine catabolic process	IMP
thymine catabolic process	IBA
valine metabolic process	ISS
L-valine catabolic process	IMP
L-valine catabolic process	IBA

GO Hierarchy

biological process

cellular process [inference]

metabolic process [inference]

catabolic process [inference]

amino acid catabolic process [inference]

branched-chain amino acid catabolic process

L-valine catabolic process

alpha-amino acid catabolic process [inference]

L-amino acid catabolic process [inference]

L-valine catabolic process

small molecule catabolic process [inference]

organic acid catabolic process [inference]

carboxylic acid catabolic process [inference]

branched-chain amino acid catabolic process

L-valine catabolic process

proteinogenic amino acid catabolic process [inference]

L-valine catabolic process

alpha-amino acid catabolic process [inference]

L-amino acid catabolic process [inference]

L-valine catabolic process

nucleobase catabolic process [inference]

pyrimidine nucleobase catabolic process [inference]

thymine catabolic process

pyrimidine-containing compound catabolic process [inference]

pyrimidine nucleobase catabolic process [inference]

thymine catabolic process

primary metabolic process [inference]

nucleobase-containing compound metabolic process [inference]

nucleobase-containing small molecule metabolic process [inference]

nucleobase metabolic process [inference]

pyrimidine nucleobase metabolic process [inference]

pyrimidine nucleobase catabolic process [inference]

thymine catabolic process

thymine metabolic process

thymine catabolic process

nucleobase catabolic process [inference]

pyrimidine nucleobase catabolic process [inference]

thymine catabolic process

amino acid metabolic process [inference]

amino acid catabolic process [inference]

branched-chain amino acid catabolic process

L-valine catabolic process

alpha-amino acid catabolic process [inference]

L-amino acid catabolic process [inference]

L-valine catabolic process

branched-chain amino acid metabolic process [inference]

valine metabolic process

L-valine catabolic process

branched-chain amino acid catabolic process

L-valine catabolic process

proteinogenic amino acid metabolic process [inference]

proteinogenic amino acid catabolic process [inference]

L-valine catabolic process

alpha-amino acid metabolic process [inference]

valine metabolic process

L-valine catabolic process

L-amino acid metabolic process [inference]

L-amino acid catabolic process [inference]

L-valine catabolic process

alpha-amino acid catabolic process [inference]

L-amino acid catabolic process [inference]

L-valine catabolic process

small molecule metabolic process [inference]

organic acid metabolic process [inference]

organic acid catabolic process [inference]

carboxylic acid catabolic process [inference]

branched-chain amino acid catabolic process

L-valine catabolic process

proteinogenic amino acid catabolic process [inference]

L-valine catabolic process

alpha-amino acid catabolic process [inference]

L-amino acid catabolic process [inference]

L-valine catabolic process

oxoacid metabolic process [inference]

carboxylic acid metabolic process [inference]

branched-chain amino acid metabolic process [inference]

valine metabolic process

L-valine catabolic process

branched-chain amino acid catabolic process

L-valine catabolic process

carboxylic acid catabolic process [inference]

branched-chain amino acid catabolic process

L-valine catabolic process

proteinogenic amino acid catabolic process [inference]

L-valine catabolic process

alpha-amino acid catabolic process [inference]

L-amino acid catabolic process [inference]

L-valine catabolic process

proteinogenic amino acid metabolic process [inference]

proteinogenic amino acid catabolic process [inference]

L-valine catabolic process

alpha-amino acid metabolic process [inference]

valine metabolic process

L-valine catabolic process

L-amino acid metabolic process [inference]

L-amino acid catabolic process [inference]

L-valine catabolic process

alpha-amino acid catabolic process [inference]

L-amino acid catabolic process [inference]

L-valine catabolic process

small molecule catabolic process [inference]

organic acid catabolic process [inference]

carboxylic acid catabolic process [inference]

branched-chain amino acid catabolic process

L-valine catabolic process

proteinogenic amino acid catabolic process [inference]

L-valine catabolic process

alpha-amino acid catabolic process [inference]

L-amino acid catabolic process [inference]

L-valine catabolic process

nucleobase-containing small molecule metabolic process [inference]

nucleobase metabolic process [inference]

pyrimidine nucleobase metabolic process [inference]

pyrimidine nucleobase catabolic process [inference]

thymine catabolic process

thymine metabolic process

thymine catabolic process

nucleobase catabolic process [inference]

pyrimidine nucleobase catabolic process [inference]

thymine catabolic process

pyrimidine-containing compound metabolic process [inference]

pyrimidine nucleobase metabolic process [inference]

pyrimidine nucleobase catabolic process [inference]

thymine catabolic process

thymine metabolic process

thymine catabolic process

pyrimidine-containing compound catabolic process [inference]

pyrimidine nucleobase catabolic process [inference]

thymine catabolic process

cellular developmental process [inference]

cell differentiation [inference]

fat cell differentiation [inference]

brown fat cell differentiation

developmental process [inference]

cellular developmental process [inference]

cell differentiation [inference]

fat cell differentiation [inference]

brown fat cell differentiation

Displaying entries **1 - 5** of 7 in total

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GO Term	Evidence Code	PMID
nucleoplasm
mitochondrion	NAS
mitochondrion	IDA
mitochondrion	IBA
mitochondrion	IEA

GO Hierarchy

cellular component

cellular anatomical structure [inference]

nucleoplasm

membrane-enclosed lumen [inference]

organelle lumen [inference]

intracellular organelle lumen [inference]

mitochondrial matrix

organelle [inference]

membrane-bounded organelle [inference]

intracellular membrane-bounded organelle [inference]

mitochondrion

intracellular organelle [inference]

intracellular membrane-bounded organelle [inference]

mitochondrion

Displaying entries **1 - 5** of 7 in total

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GO Term	Evidence Code	PMID
RNA binding	HDA
methylmalonate-semialdehyde dehydrogenase (acylating, NAD) activity	ISS
methylmalonate-semialdehyde dehydrogenase (acylating, NAD) activity	TAS
methylmalonate-semialdehyde dehydrogenase (acylating, NAD) activity	IMP
methylmalonate-semialdehyde dehydrogenase (acylating, NAD) activity	IBA

GO Hierarchy

molecular function

catalytic activity [inference]

oxidoreductase activity

oxidoreductase activity, acting on the aldehyde or oxo group of donors [inference]

oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor [inference]

methylmalonate-semialdehyde dehydrogenase (acylating, NAD) activity

binding [inference]

nucleic acid binding [inference]

RNA binding

Gene Ontology information from NCBI Gene and UniProt.

Human Protein Atlas

ENSG00000119711

Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.

Data available from v23.0.proteinatlas.org. Image credit: Human Protein Atlas

KEGG BRITE Database

Orthology

K00140

Name

malonate-semialdehyde dehydrogenase (acetylating) / methylmalonate-semialdehyde dehydrogenase [EC:1.2.1.18 1.2.1.27]

References

Rhea

H₂O + 3-oxopropanoate + CoA + NAD⁺

H⁺ + hydrogencarbonate + acetyl-CoA + NADH

Enzyme

1.2.1.27

PMID

16332250

H₂O + CoA + NAD⁺ + 2-methyl-3-oxopropanoate

H⁺ + hydrogencarbonate + propanoyl-CoA + NADH

Enzyme

1.2.1.27

PMID

Disease

The Human Phenotype Ontology

Displaying entries **1 - 10** of 34 in total

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HPO ID	HPO Term
HP:0000007	Autosomal recessive inheritance
HP:0000218	High palate
HP:0000252	Microcephaly
HP:0000286	Epicanthus
HP:0000316	Hypertelorism
HP:0000322	Short philtrum
HP:0000343	Long philtrum
HP:0000348	High forehead
HP:0000414	Bulbous nose
HP:0000463	Anteverted nares

Displaying 1 entry
Disease ID	Disease Name
OMIM:614105	methylmalonate semialdehyde dehydrogenase deficiency

PubChem Disease

MedGen Diseases

Methylmalonate semialdehyde dehydrogenase deficiency

OMIM Phenotypes

METHYLMALONATE SEMIALDEHYDE DEHYDROGENASE DEFICIENCY; MMSDHD

KEGG Diseases

Methylmalonate semialdehyde dehydrogenase deficiency

Gene-Disease-Co-Occurrences-in-Literature (PubChem)

Ortholog

Displaying **all 2** entries
Species	Gene ID	Alliance of Genome Resources
Mus musculus	104776	MGI:1915077
Rattus norvegicus	81708	RGD:621556

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01

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Last updated: April 6, 2026