Seroatlas · Human Serome Atlas

ALDH6A1

Methylmalonate-semialdehyde/malonate-semialdehyde dehydrogenase [acylating], mitochondrial

Also known as: MMSA_HUMAN, MMSDH

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession
Q02252
Gene
ALDH6A1
Ensembl
ENSG00000119711
Chromosome
14
Canonical length
535 aa
Protein class
Disease related genes, Enzymes, Human disease related genes, Metabolic proteins, Potential drug targets, Predicted intracellular proteins, Predicted membrane proteins
Subcellular location
Mitochondria
Quaternary structure
Homotetramer

OverviewNCBI 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]

Canonical amino-acid sequenceUniProt

535 residues, UniProt reviewed canonical sequence.

>Q02252|ALDH6A1
     1  MAALLAAAAV RARILQVSSK VKSSPTWYSA SSFSSSVPTV KLFIGGKFVE SKSDKWIDIH
    61  NPATNEVIGR VPQATKAEMD AAIASCKRAF PAWADTSVLS RQQVLLRYQQ LIKENLKEIA
   121  KLITLEQGKT LADAEGDVFR GLQVVEHACS VTSLMMGETM PSITKDMDLY SYRLPLGVCA
   181  GIAPFNFPAM IPLWMFPMAM VCGNTFLMKP SERVPGATML LAKLLQDSGA PDGTLNIIHG
   241  QHEAVNFICD HPDIKAISFV GSNKAGEYIF ERGSRHGKRV QANMGAKNHG VVMPDANKEN
   301  TLNQLVGAAF GAAGQRCMAL STAVLVGEAK KWLPELVEHA KNLRVNAGDQ PGADLGPLIT
   361  PQAKERVCNL IDSGTKEGAS ILLDGRKIKV KGYENGNFVG PTIISNVKPN MTCYKEEIFG
   421  PVLVVLETET LDEAIQIVNN NPYGNGTAIF TTNGATARKY AHLVDVGQVG VNVPIPVPLP
   481  MFSFTGSRSS FRGDTNFYGK QGIQFYTQLK TITSQWKEED ATLSSPAVVM PTMGR

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against ALDH6A1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability
Intracellular
Secreted
No
Transmembrane segments
0
Mean surface accessibility (rSASA)
0.23
Highest tissue expression
354 nTPM

Expression across tissuesHPA

Tissue

  • kidney: 354 nTPM
  • liver: 343 nTPM
  • cerebral cortex: 76 nTPM
  • amygdala: 68 nTPM
  • basal ganglia: 67 nTPM
  • choroid plexus: 60 nTPM

Single-cell type

  • hepatocytes: 631 nCPM
  • parietal cells: 214 nCPM
  • retinal pigment epithelial cells: 162 nCPM
  • proximal tubule cells: 142 nCPM
  • endometrial glandular cells: 126 nCPM
  • müller glia: 102 nCPM

Immune cell

  • eosinophil: 43 nTPM
  • basophil: 29 nTPM
  • MAIT T-cell: 11 nTPM
  • naive CD4 T-cell: 9.8 nTPM
  • NK-cell: 9.6 nTPM
  • myeloid DC: 9.2 nTPM

Brain region

  • thalamus: 132 nTPM
  • basal ganglia: 120 nTPM
  • medulla oblongata: 118 nTPM
  • choroid plexus: 112 nTPM
  • white matter: 111 nTPM
  • cerebellum: 106 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about ALDH6A1.

Disease | AllUniProt

Conditions ALDH6A1 is implicated in, by any mechanism.

  • Methylmalonate semialdehyde dehydrogenase deficiency (MMSDHD) MIM:614105

Disease | GeneticClinVar

7 pathogenic / likely-pathogenic of 233 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

  • Methylmalonate semialdehyde dehydrogenase deficiency

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)
0.95
gnomAD pLI
0
gnomAD missense Z
1.05
DepMap mean gene effect
-0.02
DepMap dependency class
selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

  • RNA binding
  • methylmalonate-semialdehyde dehydrogenase (acylating, NAD) activity

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads ALDH6A1 as an antibody target. Whether an autoantibody or antibody against ALDH6A1 could matter depends on whether native ALDH6A1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

ALDH6A1 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.

Annotation status

The present source text does not explicitly label ALDH6A1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/ALDH6A1. Study-independent annotations aggregated from UniProt, Human Protein Atlas, PubMed, IEDB, Pfam, InterPro, Gene Ontology, AlphaFold, gnomAD, DepMap, ClinVar, TCGA. Catalog release seroatlas-reviewed-human-uniprot-20260313.

Seroatlas is the reference for exploring autoantibody and antibody serology at the human-protein level: the autoreactome and human serome, multiplex serology (HuProt, HuScan, VirScan, PhIP-Seq).

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