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ALKBH8 alkB homolog 8, tRNA methyltransferase [ Homo sapiens (human) ]

Gene ID: 91801, updated on 23-Nov-2021

Summary

Official Symbol
ALKBH8provided by HGNC
Official Full Name
alkB homolog 8, tRNA methyltransferaseprovided by HGNC
Primary source
HGNC:HGNC:25189
See related
Ensembl:ENSG00000137760 MIM:613306
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
ABH8; TRM9; MRT71; TRMT9; TRMT9A
Expression
Ubiquitous expression in thyroid (RPKM 3.3), lymph node (RPKM 3.0) and 25 other tissues See more
Orthologs
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Genomic context

See ALKBH8 in Genome Data Viewer
Location:
11q22.3
Exon count:
13
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 11 NC_000011.10 (107502726..107565737, complement)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (107373453..107436461, complement)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105369477 Neighboring gene CWF19 like cell cycle control factor 2 Neighboring gene SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1 pseudogene 1 Neighboring gene uncharacterized LOC112267904 Neighboring gene SUCLG2 pseudogene 3 Neighboring gene ELMO domain containing 1

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Intellectual developmental disorder, autosomal recessive 71
MedGen: C5193133 OMIM: 618504 GeneReviews: Not available
not available
Shared genetic susceptibility to ischemic stroke and coronary artery disease: a genome-wide analysis of common variants.
GeneReviews: Not available

HIV-1 interactions

Replication interactions

Interaction Pubs
Knockdown of alkB, alkylation repair homolog 8 (ALKBH8) by siRNA inhibits HIV-1 replication in HeLa-derived TZM-bl cells PubMed

Go to the HIV-1, Human Interaction Database

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ38204, MGC10235

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables 2-oxoglutarate-dependent dioxygenase activity IEA
Inferred from Electronic Annotation
more info
 
enables iron ion binding ISS
Inferred from Sequence or Structural Similarity
more info
 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables tRNA (carboxymethyluridine(34)-5-O)-methyltransferase activity IEA
Inferred from Electronic Annotation
more info
 
enables tRNA (uracil) methyltransferase activity IDA
Inferred from Direct Assay
more info
PubMed 
enables tRNA binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables tRNA binding IDA
Inferred from Direct Assay
more info
PubMed 
enables zinc ion binding IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
involved_in cellular response to DNA damage stimulus IDA
Inferred from Direct Assay
more info
PubMed 
involved_in tRNA methylation IDA
Inferred from Direct Assay
more info
PubMed 
involved_in tRNA methylation IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in tRNA wobble uridine modification IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in tRNA wobble uridine modification IDA
Inferred from Direct Assay
more info
PubMed 
involved_in tRNA wobble uridine modification IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in cytosol IDA
Inferred from Direct Assay
more info
PubMed 
located_in nuclear body IDA
Inferred from Direct Assay
more info
 
located_in nucleoplasm IDA
Inferred from Direct Assay
more info
 
is_active_in nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in nucleus IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
alkylated DNA repair protein alkB homolog 8
Names
AlkB homologue 8
S-adenosyl-L-methionine-dependent tRNA methyltransferase ABH8
alkB, alkylation repair homolog 8
probable alpha-ketoglutarate-dependent dioxygenase ABH8
tRNA (carboxymethyluridine(34)-5-O)-methyltransferase ABH8
tRNA methyltransferase 9 homolog
tRNA methyltransferase 9 related
NP_001287939.2
NP_001365062.1
NP_620130.2
XP_005271785.1
XP_005271786.1
XP_016874042.1
XP_016874046.1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001301010.3NP_001287939.2  alkylated DNA repair protein alkB homolog 8 isoform 1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) differs in the 5' UTR compared to variant 2. Variants 1 and 2 both encode the same isoform (1).
    Source sequence(s)
    AP001823
    Consensus CDS
    CCDS73376.1
    Related
    ENSP00000374219.3, ENST00000389568.7
    Conserved Domains (4) summary
    pfam09004
    Location:137
    DUF1891; Domain of unknown function (DUF1891)
    pfam13649
    Location:410497
    Methyltransf_25; Methyltransferase domain
    cd12431
    Location:42122
    RRM_ALKBH8; RNA recognition motif (RRM) found in alkylated DNA repair protein alkB homolog 8 (ALKBH8) and similar proteins
    cl21496
    Location:152334
    2OG-FeII_Oxy; 2OG-Fe(II) oxygenase superfamily
  2. NM_001378133.1NP_001365062.1  alkylated DNA repair protein alkB homolog 8 isoform 3

    Status: VALIDATED

    Source sequence(s)
    AP001823
    Conserved Domains (3) summary
    pfam09004
    Location:137
    DUF1891; Domain of unknown function (DUF1891)
    cd12431
    Location:42122
    RRM_ALKBH8; RNA recognition motif (RRM) found in alkylated DNA repair protein alkB homolog 8 (ALKBH8) and similar proteins
    cl21496
    Location:152334
    2OG-FeII_Oxy; 2OG-Fe(II) oxygenase superfamily
  3. NM_138775.3NP_620130.2  alkylated DNA repair protein alkB homolog 8 isoform 1

    See identical proteins and their annotated locations for NP_620130.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) represents the longest transcript and encodes the longer isoform (1). Variants 1 and 2 both encode the same isoform (1).
    Source sequence(s)
    AB218768, AP001823, BX649085
    Consensus CDS
    CCDS8337.2
    UniProtKB/Swiss-Prot
    Q96BT7
    Related
    ENSP00000415885.2, ENST00000428149.7
    Conserved Domains (4) summary
    pfam09004
    Location:137
    DUF1891; Domain of unknown function (DUF1891)
    pfam13649
    Location:410497
    Methyltransf_25; Methyltransferase domain
    cd12431
    Location:42122
    RRM_ALKBH8; RNA recognition motif (RRM) found in alkylated DNA repair protein alkB homolog 8 (ALKBH8) and similar proteins
    cl21496
    Location:152334
    2OG-FeII_Oxy; 2OG-Fe(II) oxygenase superfamily

RNA

  1. NR_165421.1 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AP001823
  2. NR_165422.1 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AP001823
  3. NR_165423.1 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AP001823
  4. NR_165424.1 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AP001823
  5. NR_165425.1 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AP001823
  6. NR_165426.1 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AP001823

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20211119

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p13 Primary Assembly

    Range
    107502726..107565737 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005271729.3XP_005271786.1  alkylated DNA repair protein alkB homolog 8 isoform X3

    See identical proteins and their annotated locations for XP_005271786.1

    Conserved Domains (2) summary
    pfam08241
    Location:275364
    Methyltransf_11; Methyltransferase domain
    cl21496
    Location:15197
    2OG-FeII_Oxy; 2OG-Fe(II) oxygenase superfamily
  2. XM_017018553.1XP_016874042.1  alkylated DNA repair protein alkB homolog 8 isoform X1

  3. XM_005271728.2XP_005271785.1  alkylated DNA repair protein alkB homolog 8 isoform X3

    See identical proteins and their annotated locations for XP_005271785.1

    Conserved Domains (2) summary
    pfam08241
    Location:275364
    Methyltransf_11; Methyltransferase domain
    cl21496
    Location:15197
    2OG-FeII_Oxy; 2OG-Fe(II) oxygenase superfamily
  4. XM_017018557.1XP_016874046.1  alkylated DNA repair protein alkB homolog 8 isoform X6

    Conserved Domains (3) summary
    pfam09004
    Location:440
    DUF1891; Domain of unknown function (DUF1891)
    cd12431
    Location:45125
    RRM_ALKBH8; RNA recognition motif in alkylated DNA repair protein alkB homolog 8 (ALKBH8) and similar proteins
    cl21496
    Location:155337
    2OG-FeII_Oxy; 2OG-Fe(II) oxygenase superfamily

RNA

  1. XR_001748035.1 RNA Sequence

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