ALKBH1 (Q13686) — review notes

Reviewed as one half of a paired batch with YTHDF3, because the two genes share a single
contested premise: whether N6-methyladenine (6mA) exists at functionally meaningful levels in
mammalian genomic DNA. ALKBH1 is the proposed eraser; YTHDF3 has recently been proposed as
the reader. If the substrate is largely artifactual, both assignments lose their ground at once.

1. What ALKBH1 is

ALKBH1 (AlkB homolog 1, ABH1) is one of nine mammalian AlkB-family Fe(II)/2-oxoglutarate
dependent dioxygenases. It carries the canonical 2OG-Fe(II) oxygenase fold and the
His-X-Asp...His iron triad. Unlike ALKBH2/ALKBH3, which were straightforwardly shown to be
1-methyladenine/3-methylcytosine DNA repair demethylases, ALKBH1 was initially refractory:

PMID:18603530

The protein carries an N-terminal mitochondrial targeting signal and is predominantly
mitochondrial, with a smaller nuclear pool:

PMID:18603530

2. The best-supported function: mt-tRNA-Met f5C34 formation

This is the activity with the strongest, most independently replicated support, and the one I
treat as ALKBH1's core molecular function.

Mammalian mitochondria use a non-universal genetic code in which a single mt-tRNA-Met must
decode AUG, AUA and AUU. That is achieved by a two-enzyme modification cascade at the wobble
position C34: NSUN3 makes m5C34, then ALKBH1 oxidises it to f5C34.

PMID:27497299
PMID:27497299

Independently confirmed and mechanistically dissected by the Suzuki lab, who also reconstituted
the two-step oxidation in vitro:

PMID:28472312
PMID:28472312

The same paper found ALKBH1 also acts on cytoplasmic tRNA-Leu (hm5Cm/f5Cm at position 34) and
demethylates m1A in mt-tRNAs:

PMID:28472312

Reinforced in 2025. A paper whose whole point is to deflate an epitranscriptomic claim
nevertheless leaves ALKBH1's mt-tRNA role standing — and in fact strengthens it by removing the
competing mRNA-f5C and TET-enzyme claims:

PMID:41219180
PMID:41219180
PMID:41219180

This is a useful contrast with the 6mA story below: when a rigorous methodological audit is
applied to f5C, the ALKBH1 mt-tRNA assignment survives. When the equivalent audit is applied
to genomic 6mA, the substrate itself largely disappears.

3. The second reasonably supported activity: tRNA m1A demethylation

PMID:27745969
PMID:27745969

Corroborated independently by the m1A increase seen in ALKBH1-KO mt-tRNAs (PMID:28472312,
quoted above). Two labs, two systems, consistent direction — I treat this as core.

4. In vitro nucleic-acid demethylase and AP-lyase activities

ALKBH1 does demethylate 3-methylcytosine, but only in single-stranded DNA and in RNA:

PMID:18603530

It also has a second, chemically distinct activity — AP lyase — arising from a different active
site, which the authors themselves hedge about physiologically:

PMID:19959401
PMID:19959401

There is also a reported histone H2A dioxygenase activity (not currently in GOA):

PMID:22961808

And an m3C-in-mRNA demethylase report:

PMID:31188562

Caveat worth recording: the m3C-in-mRNA premise rests on METTL8 being an mRNA m3C writer, and
METTL8 has since been re-characterised as a mitochondrial tRNA m3C32 methyltransferase. The
molecular function (oxidative RNA demethylase) is not in doubt; the mRNA substrate assignment
is weaker than the tRNA one.

5. The contested claim: genomic 6mA demethylation

5a. The positive reports (basis of the GOA EXP annotations)

Two 2018 papers underlie GO:0141131 DNA N6-methyladenine demethylase activity (EXP):

PMID:30017583
PMID:30392959

The mouse ESC precedent is Wu et al. 2016:

PMID:27027282

5b. The methodological refutations

Three independent, technically focused studies concluded that mammalian genomic 6mA measurements
are dominated by artifact:

PMID:32206710
PMID:32206710

PMID:32203414

PMID:35113693

Musheev et al. is the most damaging for the eraser hypothesis specifically: if genomic m6dA is
mis-incorporated from the ribonucleotide salvage pool rather than written by a methyltransferase,
there is no regulated mark for an eraser to erase, and any apparent "demethylase" effect on bulk
genomic 6mA could instead reflect the enzyme's RNA activity changing the m6A-ribonucleotide pool.

5c. The 2025 evolutionary argument

PMID:41254163
PMID:41254163
PMID:41254163
PMID:41254163

This adds a phylogenetic argument to the analytical one: animals have lost the AMT1 writer
lineage. A dedicated eraser for a mark with no writer is hard to motivate.

5d. What even the pro-6mA camp concedes

The EMBO J 2025 paper that proposes YTHDF3 as the 6mA reader opens by conceding the dsDNA
problem in its own abstract:

PMID:40715766
PMID:40715766

Its proposed resolution is that YTHDF3 recruits ALKBH1:

PMID:40715766

Note that the senior/corresponding authors (Yan G-R, Gu X-F) overlap with those of PMID:30017583,
so this is not an independent confirmation of the substrate's existence — it is a continuation of
the same programme.

5e. Position taken

6. The chemoattractant annotations — a genuine propagation error

GOA gives human ALKBH1 GO:0042056 chemoattractant activity (IEA, GO_REF:0000107, Ensembl
Compara transfer from mouse UniProtKB:P0CB42) and, logically inferred from it,
GO:0050918 positive chemotaxis (IEA, GO_REF:0000108).

Tracing the mouse source via QuickGO: UniProtKB:P0CB42 enables GO:0042056 IDA PMID:16860792
(assigned by MGI, 2006). That paper is about NRP (neural regeneration protein), and states:

PMID:16860792

NRP is a different reading frame product of the Alkbh1 locus — a secreted, SDF-1-like
neurotrophic/chemoattractive factor with predicted trefoil (TFF-1) and survival-promoting-peptide
homology. It is not the ALKBH1 dioxygenase polypeptide. Transferring a secreted-chemokine
molecular function onto the mitochondrial 2OG-Fe(II) oxygenase Q13686 by Compara orthology is an
over-propagation: a mitochondrial-matrix tRNA-modifying dioxygenase with no signal peptide cannot
be a secreted chemoattractant. Both IEA rows are marked REMOVE.

This is exactly the category CLAUDE.md permits for removal — "EC/IEA mappings that are
demonstrably wrong... over-propagated electronic (IEA/IBA) inferences you can argue against on
biological grounds" — and it touches no experimental annotation.

7. Other annotations

8. Bottom line

ALKBH1's best-supported core function is not DNA demethylation. It is a mitochondrial
(and partly nuclear/cytoplasmic) 2OG/Fe(II) tRNA-modifying dioxygenase:

  1. mt-tRNA-Met f5C34 formation (GO:0160290), enabling AUA/AUU decoding in mitochondrial
    translation — three independent labs, and re-endorsed in 2025 by a paper specifically designed
    to strip out f5C artifacts.
  2. tRNA m1A demethylation (GO:1990984), regulating tRNA usage and translation initiation.

Its DNA-directed activities (ssDNA m3C demethylation, AP lyase, and the contested genomic 6mA
demethylation) are retained as non-core.