Cell atlas - ALDH6A1 - The Human Protein Atlas

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ALDH6A1

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TISSUE

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CELL

CANCER

CELL ATLAS RNA EXPRESSION HUMAN CELLS

GENE/PROTEIN

Antibody validation

Dictionary
	Mitochondria

Human cell
	Mitochondria

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GENERAL INFORMATION
Gene name	ALDH6A1
Gene description	Aldehyde dehydrogenase 6 family, member A1
Protein class	Disease related genes Enzymes Potential drug targets Predicted intracellular proteins Predicted membrane proteins
Predicted localization	Intracellular,Membrane
Number of transcripts	3
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HUMAN PROTEIN ATLAS INFORMATION
Summary	Localized to the mitochondria.
RNA cell category	Expressed in all
Protein evidence	Evidence at protein level
Main location	Localized to the Mitochondria (validated)
Single-cell variation	Single-cell variation in protein expression observed.

DATA RELIABILITY
Reliability score	Validated based on 3 antibodies. HPA029073 , HPA029074 , HPA029075
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ASSAYS

RNA EXPRESSION OVERVIEW
RNA cell line category: Expressed in all Organ Origin Category Expression Alphabetical Cell lines sorted after organ of phenotypic resemblance. Cell lines sorted after biological source for establishment. Cell lines sorted after the cell line category according to Cellosaurus. Cell lines sorted on descending RNA expression. Cell lines sorted alphabetically.

HUMAN CELLS

Summary

Localized to the mitochondria.

Main location

Mitochondria (validated)


	Toggle channels	Low High G1 S G2 M N/A

Thumbnail	Antibody	Cell line	Location	Single-cell variation	Cell cycle dependent variation
	HPA029073	A-431	Nucleoplasm
	HPA029073	A-431	Mitochondria
	HPA029073	U-2 OS	Nucleoplasm
	HPA029073	U-2 OS	Mitochondria
	HPA029073	U-251 MG	Nucleoplasm
	HPA029073	U-251 MG	Mitochondria
	HPA029074	MCF7	Mitochondria
	HPA029074	U-2 OS	No staining
	HPA029075	MCF7	Mitochondria
	HPA029075	U-2 OS	Mitochondria	Intensity

GENE INFORMATION
Gene name	ALDH6A1 (HGNC Symbol)
Synonyms	MMSDH
Description	Aldehyde dehydrogenase 6 family, member A1 (HGNC Symbol)
Entrez gene 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]
Chromosome	14
Cytoband	q24.3
Chromosome location (bp)	74056850 - 74084493
Protein evidence	Evidence at protein level (all genes)
Ensembl	ENSG00000119711 (version 83.38)
Entrez gene	4329
UniProt	Q02252 (UniProt - Evidence at protein level)
neXtProt	NX_Q02252
Antibodypedia	ALDH6A1 antibodies

PROTEIN BROWSER

ALDH6A1-001	ALDH6A1-002	ALDH6A1-007

PROTEIN INFORMATION
Splice variant	UniProt	Protein class	Gene ontology	Length & mass	Signal peptide (predicted)	Transmembrane regions (predicted)
ALDH6A1-001 ENSP00000450436 ENST00000553458	Q02252 [Direct mapping] Methylmalonate-semialdehyde dehydrogenase [acylating], mitochondrial A0A024R6G4 [Target identity:100%; Query identity:100%] Aldehyde dehydrogenase 6 family, member A1, isoform CRA_b Show all	Enzymes ENZYME proteins Oxidoreductases Predicted membrane proteins Prediction method-based Membrane proteins predicted by MDM MEMSAT-SVM predicted membrane proteins SPOCTOPUS predicted membrane proteins THUMBUP predicted membrane proteins TMHMM predicted membrane proteins # TM segments-based 1TM proteins predicted by MDM Disease related genes Potential drug targets Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014) Show all	GO:0000062 [fatty-acyl-CoA binding] GO:0004029 [aldehyde dehydrogenase (NAD) activity] GO:0004491 [methylmalonate-semialdehyde dehydrogenase (acylating) activity] GO:0005654 [nucleoplasm] GO:0005739 [mitochondrion] GO:0005759 [mitochondrial matrix] GO:0006210 [thymine catabolic process] GO:0006573 [valine metabolic process] GO:0006574 [valine catabolic process] GO:0008152 [metabolic process] GO:0009083 [branched-chain amino acid catabolic process] GO:0016491 [oxidoreductase activity] GO:0016790 [thiolester hydrolase activity] GO:0018478 [malonate-semialdehyde dehydrogenase (acetylating) activity] GO:0019484 [beta-alanine catabolic process] GO:0019859 [thymine metabolic process] GO:0034641 [cellular nitrogen compound metabolic process] GO:0044281 [small molecule metabolic process] GO:0044822 [poly(A) RNA binding] GO:0050873 [brown fat cell differentiation] GO:0055114 [oxidation-reduction process] GO:0070062 [extracellular exosome] Show all	535 aa 57.8 kDa	No	1
ALDH6A1-002 ENSP00000342564 ENST00000350259	Q02252 [Direct mapping] Methylmalonate-semialdehyde dehydrogenase [acylating], mitochondrial Show all	Enzymes ENZYME proteins Oxidoreductases Predicted membrane proteins Prediction method-based Membrane proteins predicted by MDM MEMSAT-SVM predicted membrane proteins SPOCTOPUS predicted membrane proteins THUMBUP predicted membrane proteins TMHMM predicted membrane proteins # TM segments-based 1TM proteins predicted by MDM Disease related genes Potential drug targets Protein evidence (Ezkurdia et al 2014) Show all	GO:0000062 [fatty-acyl-CoA binding] GO:0004029 [aldehyde dehydrogenase (NAD) activity] GO:0004491 [methylmalonate-semialdehyde dehydrogenase (acylating) activity] GO:0005654 [nucleoplasm] GO:0005739 [mitochondrion] GO:0005759 [mitochondrial matrix] GO:0006210 [thymine catabolic process] GO:0006573 [valine metabolic process] GO:0006574 [valine catabolic process] GO:0008152 [metabolic process] GO:0009083 [branched-chain amino acid catabolic process] GO:0016491 [oxidoreductase activity] GO:0018478 [malonate-semialdehyde dehydrogenase (acetylating) activity] GO:0019859 [thymine metabolic process] GO:0034641 [cellular nitrogen compound metabolic process] GO:0044281 [small molecule metabolic process] GO:0044822 [poly(A) RNA binding] GO:0055114 [oxidation-reduction process] GO:0070062 [extracellular exosome] Show all	522 aa 56.2 kDa	No	1
ALDH6A1-007 ENSP00000452081 ENST00000555126	G3V4Z4 [Direct mapping] Methylmalonate-semialdehyde dehydrogenase [acylating], mitochondrial Show all	Predicted intracellular proteins Protein evidence (Ezkurdia et al 2014) Show all	GO:0004029 [aldehyde dehydrogenase (NAD) activity] GO:0005654 [nucleoplasm] GO:0005739 [mitochondrion] GO:0008152 [metabolic process] GO:0016491 [oxidoreductase activity] GO:0018478 [malonate-semialdehyde dehydrogenase (acetylating) activity] GO:0055114 [oxidation-reduction process] Show all	252 aa 27 kDa	No	0

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The Project

The Human Protein Atlas

The Human Protein Atlas project is funded
by the Knut & Alice Wallenberg foundation.