Seroatlas · Human Serome Atlas

ALDH9A1

4-trimethylaminobutyraldehyde dehydrogenase

Also known as: AL9A1_HUMAN, ALDH4, ALDH7, ALDH9, E3

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

Protein identityUniProt · HPA

UniProt accession: P49189
Gene: ALDH9A1
Ensembl: ENSG00000143149
Chromosome: 1
Canonical length: 494 aa
Protein class: Enzymes, Metabolic proteins, Plasma proteins, Predicted intracellular proteins
Subcellular location: Cytosol
Secretome location: Intracellular and membrane
Quaternary structure: Homotetramer

OverviewNCBI Gene

This protein belongs to the aldehyde dehydrogenase family of proteins. It has a high activity for oxidation of gamma-aminobutyraldehyde and other amino aldehydes. The enzyme catalyzes the dehydrogenation of gamma-aminobutyraldehyde to gamma-aminobutyric acid (GABA). This isozyme is a tetramer of identical 54-kD subunits. [provided by RefSeq, Jul 2008]

Canonical amino-acid sequenceUniProt

494 residues, UniProt reviewed canonical sequence.

>P49189|ALDH9A1
     1  MSTGTFVVSQ PLNYRGGARV EPADASGTEK AFEPATGRVI ATFTCSGEKE VNLAVQNAKA
    61  AFKIWSQKSG MERCRILLEA ARIIREREDE IATMECINNG KSIFEARLDI DISWQCLEYY
   121  AGLAASMAGE HIQLPGGSFG YTRREPLGVC VGIGAWNYPF QIASWKSAPA LACGNAMVFK
   181  PSPFTPVSAL LLAEIYSEAG VPPGLFNVVQ GGAATGQFLC QHPDVAKVSF TGSVPTGMKI
   241  MEMSAKGIKP VTLELGGKSP LIIFSDCDMN NAVKGALMAN FLTQGQVCCN GTRVFVQKEI
   301  LDKFTEEVVK QTQRIKIGDP LLEDTRMGPL INRPHLERVL GFVKVAKEQG AKVLCGGDIY
   361  VPEDPKLKDG YYMRPCVLTN CRDDMTCVKE EIFGPVMSIL SFDTEAEVLE RANDTTFGLA
   421  AGVFTRDIQR AHRVVAELQA GTCFINNYNV SPVELPFGGY KKSGFGRENG RVTIEYYSQL
   481  KTVCVEMGDV ESAF

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against ALDH9A1 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): 0.21
Highest tissue expression: 221 nTPM

Expression across tissuesHPA

Tissue

liver: 221 nTPM
kidney: 152 nTPM
thyroid gland: 132 nTPM
adipose tissue: 129 nTPM
esophagus: 113 nTPM
adrenal gland: 112 nTPM

Single-cell type

esophageal apical cells: 786 nCPM
esophageal suprabasal cells: 429 nCPM
breast lactating cells: 298 nCPM
müller glia: 274 nCPM
retinal pigment epithelial cells: 226 nCPM
hepatocytes: 190 nCPM

Immune cell

T-reg: 79 nTPM
basophil: 71 nTPM
neutrophil: 59 nTPM
eosinophil: 59 nTPM
naive CD8 T-cell: 58 nTPM
memory B-cell: 57 nTPM

Brain region

choroid plexus: 80 nTPM
hypothalamus: 68 nTPM
white matter: 61 nTPM
midbrain: 55 nTPM
medulla oblongata: 52 nTPM
spinal cord: 51 nTPM

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): 1.14
gnomAD pLI: 0
gnomAD missense Z: -0.42
DepMap mean gene effect: -0.16
DepMap dependency class: selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 9% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

acetaldehyde dehydrogenase (NAD+) activity
aldehyde dehydrogenase (NAD+) activity
aminobutyraldehyde dehydrogenase (NAD+) activity
formaldehyde dehydrogenase (NAD+) activity
small molecule binding
4-trimethylammoniobutyraldehyde dehydrogenase activity

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads ALDH9A1 as an antibody target. Whether an autoantibody or antibody against ALDH9A1 could matter depends on whether native ALDH9A1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

ALDH9A1 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 ALDH9A1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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