Seroatlas · Human Serome Atlas

ALDH1L2

Mitochondrial 10-formyltetrahydrofolate dehydrogenase

Also known as: AL1L2_HUMAN, FLJ38508, mtFDH

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

Protein identityUniProt · HPA

UniProt accession
Q3SY69
Gene
ALDH1L2
Ensembl
ENSG00000136010
Chromosome
12
Canonical length
923 aa
Protein class
Enzymes, Metabolic proteins, Predicted intracellular proteins
Subcellular location
Mitochondria

OverviewNCBI Gene

This gene encodes a member of both the aldehyde dehydrogenase superfamily and the formyl transferase superfamily. This member is the mitochondrial form of 10-formyltetrahydrofolate dehydrogenase (FDH), which converts 10-formyltetrahydrofolate to tetrahydrofolate and CO2 in an NADP(+)-dependent reaction, and plays an essential role in the distribution of one-carbon groups between the cytosolic and mitochondrial compartments of the cell. Alternatively spliced transcript variants have been found for this gene.[provided by RefSeq, Oct 2010]

Canonical amino-acid sequenceUniProt

923 residues, UniProt reviewed canonical sequence.

>Q3SY69|ALDH1L2
     1  MLRRGSQALR RFSTGRVYFK NKLKLALIGQ SLFGQEVYSH LRKEGHRVVG VFTVPDKDGK
    61  ADPLALAAEK DGTPVFKLPK WRVKGKTIKE VAEAYRSVGA ELNVLPFCTQ FIPMDIIDSP
   121  KHGSIIYHPS ILPRHRGASA INWTLIMGDK KAGFSVFWAD DGLDTGPILL QRSCDVEPND
   181  TVDALYNRFL FPEGIKAMVE AVQLIADGKA PRIPQPEEGA TYEGIQKKEN AEISWDQSAE
   241  VLHNWIRGHD KVPGAWTEIN GQMVTFYGST LLNSSVPPGE PLEIKGAKKP GLVTKNGLVL
   301  FGNDGKALTV RNLQFEDGKM IPASQYFSTG ETSVVELTAE EVKVAETIKV IWAGILSNVP
   361  IIEDSTDFFK SGASSMDVAR LVEEIRQKCG GLQLQNEDVY MATKFEGFIQ KVVRKLRGED
   421  QEVELVVDYI SKEVNEIMVK MPYQCFINGQ FTDADDGKTY DTINPTDGST ICKVSYASLA
   481  DVDKAVAAAK DAFENGEWGR MNARERGRLM YRLADLLEEN QEELATIEAL DSGAVYTLAL
   541  KTHIGMSVQT FRYFAGWCDK IQGSTIPINQ ARPNRNLTFT KKEPLGVCAI IIPWNYPLMM
   601  LAWKSAACLA AGNTLVLKPA QVTPLTALKF AELSVKAGFP KGVINIIPGS GGIAGQRLSE
   661  HPDIRKLGFT GSTPIGKQIM KSCAVSNLKK VSLELGGKSP LIIFNDCELD KAVRMGMGAV
   721  FFNKGENCIA AGRLFVEESI HDEFVTRVVE EIKKMKIGDP LDRSTDHGPQ NHKAHLEKLL
   781  QYCETGVKEG ATLVYGGRQV QRPGFFMEPT VFTDVEDYMY LAKEESFGPI MVISKFQNGD
   841  IDGVLQRANS TEYGLASGVF TRDINKAMYV SEKLEAGTVF INTYNKTDVA APFGGVKQSG
   901  FGKDLGEEAL NEYLKTKTVT LEY

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against ALDH1L2 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)
0.24
Highest tissue expression
38 nTPM

Expression across tissuesHPA

Tissue

  • pancreas: 38 nTPM
  • salivary gland: 12 nTPM
  • cervix: 5 nTPM
  • blood vessel: 4.4 nTPM
  • seminal vesicle: 4.3 nTPM
  • smooth muscle: 3.9 nTPM

Single-cell type

  • pancreatic acinar cells: 107 nCPM
  • plasma cells: 75 nCPM
  • fibro-adipogenic progenitors: 70 nCPM
  • gonadotrophs: 65 nCPM
  • pituitary stem cells: 62 nCPM
  • retinal ganglion cells: 46 nCPM

Immune cell

  • plasmacytoid DC: 0.1 nTPM
  • basophil: 0 nTPM
  • classical monocyte: 0 nTPM
  • eosinophil: 0 nTPM
  • gdT-cell: 0 nTPM
  • intermediate monocyte: 0 nTPM

Brain region

  • white matter: 7.9 nTPM
  • cerebellum: 7.5 nTPM
  • spinal cord: 6.5 nTPM
  • hypothalamus: 6.3 nTPM
  • cerebral cortex: 6.1 nTPM
  • thalamus: 6 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)
0.92
gnomAD pLI
0
gnomAD missense Z
1.37
DepMap mean gene effect
-0.07
DepMap dependency class
selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads ALDH1L2 as an antibody target. Whether an autoantibody or antibody against ALDH1L2 could matter depends on whether native ALDH1L2 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

ALDH1L2 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 ALDH1L2 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/ALDH1L2. 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).

Loading the interactive Seroatlas protein explorer...