ALKBH8 - alkB homolog 8, tRNA methyltransferase Gene

Also Known as ABH8; TRM9; MRT71; TRMT9; TRMT9A

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 91801

About ALKBH8

Cytogenetic location: 11q22.3 Genomic coordinates (GRCh38): 11:107,502,727-107,565,735 (from NCBI)

This gene has 7 transcripts (splice variants), 196 orthologues, 2 paralogues and is associated with 3 phenotypes. Ubiquitous expression in thyroid (RPKM 3.3), lymph node (RPKM 3.0) and 25 other tissues.

Summary

Enables tRNA (uracil) methyltransferase activity; tRNA binding activity; and zinc ion binding activity. Involved in cellular response to DNA damage stimulus; tRNA methylation; and tRNA wobble uridine modification. Located in cytosol and nuclear body. Implicated in autosomal recessive non-syndromic intellectual disability. [provided by Alliance of Genome Resources, Apr 2022]

ALKBH8 Products (3)

mRNA	Protein	Name
NM_001301010.3	NP_001287939.2	alkylated DNA repair protein alkB homolog 8 isoform 1
NM_001378133.1	NP_001365062.1	alkylated DNA repair protein alkB homolog 8 isoform 3
NM_138775.3	NP_620130.2	alkylated DNA repair protein alkB homolog 8 isoform 1

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables protein binding	IPI IPI: Inferred from physical interaction	20123966	GOA
enables tRNA (uridine) methyltransferase activity	IDA IDA: Inferred from direct assay	20308323	GOA
enables tRNA binding	IDA IDA: Inferred from direct assay	22065580	GOA
enables zinc ion binding	IDA IDA: Inferred from direct assay	22065580	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in DNA damage response	IDA IDA: Inferred from direct assay	20308323	GOA
involved in tRNA methylation	IDA IDA: Inferred from direct assay	20308323	GOA
involved in tRNA methylation	IMP IMP: Inferred from mutant phenotype	31079898	GOA
involved in tRNA wobble uridine modification	IDA IDA: Inferred from direct assay	21285950	GOA
involved in tRNA wobble uridine modification	IMP IMP: Inferred from mutant phenotype	31079898	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in cytoplasm	IDA IDA: Inferred from direct assay	34948388	GOA
located in cytosol	IDA IDA: Inferred from direct assay	20308323	GOA
located in nucleus	IDA IDA: Inferred from direct assay	20308323	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

ALKBH8 Protein Structure

DUF1891

2OG-FeII_Oxy_2

Methyltransf_11

0
200
400
600
664 a.a.

Protein Preferred Names	Protein Names
alkylated DNA repair protein alkB homolog 8	AlkB homologue 8

ALKBH8 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	ALKBH8	Q96BT7	TRMT112	Homo sapiens	Q9UI30	Anti Tag CoIP	20308323
Intra	ALKBH8	Q96BT7	TRMT112	Homo sapiens	Q9UI30	Confocal	34948388
Intra	ALKBH8	Q96BT7	TRMT112	Homo sapiens	Q9UI30	Anti Tag CoIP	34948388

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Intellectual Developmental Disorder, Autosomal Recessive 71	MRT71 Mental Retardation, Autosomal Recessive 71 Autosomal Recessive Intellectual Developmental Disorder 71
Autosomal Recessive Non-Syndromic Intellectual Disability	Ar-Nsid Ns-Arid
Syndromic Intellectual Disability
Cardiomyopathy, Familial Restrictive, 1	RCM1 Restrictive Cardiomyopathy 1 Rcm Familial Restrictive Cardiomyopathy 1 Cardiomyopathy, Familial Restrictive 1 Cardiomyopathy, Restrictive, Familial, Type 1 Rcm-1
Non-Syndromic X-Linked Intellectual Disability	X-Linked Non-Syndromic Intellectual Disability Non-Specific X-Linked Mental Retardation X-Linked Non-Specific Intellectual Disability

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (2)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-153100A	(S)-mchm5U		98.87%	Unkown
HY-RS00609	ALKBH8 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Canis familiaris	ALKBH8	VGNC	VGNC:37808
Bos taurus	ALKBH8	VGNC	VGNC:25839
Mus musculus	ALKBH8	MGD	MGI:1914917
Macaca mulatta	ALKBH8	VGNC	VGNC:99541
Rattus norvegicus	ALKBH8	RGD	RGD:1304687
Felis catus	ALKBH8	VGNC	VGNC:81899
Others	ALKBH8	NCBI