ALKBH8

Protein identityUniProt · HPA

UniProt accession

Q96BT7

Gene

ALKBH8

Ensembl

ENSG00000137760

Chromosome

11

Canonical length

664 aa

Protein class

Disease related genes, Enzymes, Human disease related genes, Potential drug targets, Predicted intracellular proteins

Subcellular location

Nucleoplasm

OverviewNCBI Gene

Enables tRNA (uridine) methyltransferase activity; tRNA binding activity; and zinc ion binding activity. Involved in DNA damage response; tRNA methylation; and tRNA wobble uridine modification. Located in cytosol and nucleoplasm. Implicated in autosomal recessive intellectual developmental disorder 71. [provided by Alliance of Genome Resources, Jul 2025]

Canonical amino-acid sequenceUniProt

664 residues, UniProt reviewed canonical sequence.

>Q96BT7|ALKBH8
     1  MDSNHQSNYK LSKTEKKFLR KQIKAKHTLL RHEGIETVSY ATQSLVVANG GLGNGVSRNQ
    61  LLPVLEKCGL VDALLMPPNK PYSFARYRTT EESKRAYVTL NGKEVVDDLG QKITLYLNFV
   121  EKVQWKELRP QALPPGLMVV EEIISSEEEK MLLESVDWTE DTDNQNSQKS LKHRRVKHFG
   181  YEFHYENNNV DKDKPLSGGL PDICESFLEK WLRKGYIKHK PDQMTINQYE PGQGIPAHID
   241  THSAFEDEIV SLSLGSEIVM DFKHPDGIAV PVMLPRRSLL VMTGESRYLW THGITCRKFD
   301  TVQASESLKS GIITSDVGDL TLSKRGLRTS FTFRKVRQTP CNCSYPLVCD SQRKETPPSF
   361  PESDKEASRL EQEYVHQVYE EIAGHFSSTR HTPWPHIVEF LKALPSGSIV ADIGCGNGKY
   421  LGINKELYMI GCDRSQNLVD ICRERQFQAF VCDALAVPVR SGSCDACISI AVIHHFATAE
   481  RRVAALQEIV RLLRPGGKAL IYVWAMEQEY NKQKSKYLRG NRNSQGKKEE MNSDTSVQRS
   541  LVEQMRDMGS RDSASSVPRI NDSQEGGCNS RQVSNSKLPV HVNRTSFYSQ DVLVPWHLKG
   601  NPDKGKPVEP FGPIGSQDPS PVFHRYYHVF REGELEGACR TVSDVRILQS YYDQGNWCVI
   661  LQKA

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against ALKBH8 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)

0.31

Highest tissue expression

5.6 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about ALKBH8.

Disease | AllUniProt

Conditions ALKBH8 is implicated in, by any mechanism.

• Intellectual developmental disorder, autosomal recessive 71 (MRT71) MIM:618504

Disease | GeneticClinVar

8 pathogenic / likely-pathogenic of 164 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Intellectual developmental disorder, autosomal recessive 71

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)

0.67

gnomAD pLI

0

gnomAD missense Z

0.85

DepMap mean gene effect

0.01

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

• DNA damage response
• tRNA methylation
• tRNA wobble uridine modification

Molecular functions

• 2-oxoglutarate-dependent dioxygenase activity
• iron ion binding
• S-adenosylmethionine-dependent methyltransferase activity
• tRNA (5-carboxymethyluridine(34)-5-O)-methyltransferase activity
• tRNA (uridine) methyltransferase activity
• tRNA binding
• zinc ion binding

Cellular components

• cytoplasm
• cytosol
• nucleoplasm
• nucleus

Protein domainsUniProt · Pfam · InterPro

• RNA recognition motif domain
• Oxoglutarate/iron-dependent dioxygenase domain
• Nucleotide-binding alpha-beta plait domain superfamily
• Methyltransferase type 11
• Alpha-ketoglutarate-dependent dioxygenase AlkB-like
• S-adenosyl-L-methionine-dependent methyltransferase superfamily
• RNA-binding domain superfamily
• AlkB Family tRNA Methyltransferase/Dioxygenase
• RNA recognition motif
• Methyltransferase domain
• 2OG-Fe(II) oxygenase superfamily
• Alkylated DNA repair protein AlkB, homologue 8, N-terminal
• ALKBH8, RNA recognition motif
• Alkylated DNA repair protein alkB homolog 8, N-terminal

KeywordsUniProt

• Cytoplasm
• Intellectual disability
• Iron
• Metal-binding
• Methyltransferase
• Multifunctional enzyme
• Nucleus
• RNA-binding
• S-adenosyl-L-methionine
• Transferase
• Zinc

InteractionsUniProt · HPA

Protein binding partners of ALKBH8 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• TRMT112