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 LEYLocalizationUniProt · 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
- 10-formyltetrahydrofolate catabolic process
- fatty acid beta-oxidation
- folic acid metabolic process
- NADPH regeneration
- one-carbon metabolic process
Molecular functions
Cellular components
Protein domainsUniProt · Pfam · InterPro
- Phosphoribosylglycinamide formyltransferase, active site
- Formyl transferase, N-terminal
- Formyl transferase, C-terminal
- Phosphopantetheine attachment site
- Phosphopantetheine binding ACP domain
- Formyl transferase-like, C-terminal domain superfamily
- 10-formyltetrahydrofolate dehydrogenase
- Aldehyde dehydrogenase domain
- Aldehyde dehydrogenase, cysteine active site
- Aldehyde/histidinol dehydrogenase
- Aldehyde dehydrogenase, N-terminal
- Aldehyde dehydrogenase, C-terminal
- Aldehyde dehydrogenase, glutamic acid active site
- Formyl transferase, N-terminal domain superfamily
- ACP-like superfamily
- Formyl transferase, C-terminal domain superfamily
- Aldehyde dehydrogenase family
- Phosphopantetheine attachment site
- Formyl transferase
- Formyl transferase, C-terminal domain
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.
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