ALKBH1 alkB homolog 1, histone H2A dioxygenase [Homo sapiens (human)] - Gene

Summary

Official Symbol: ALKBH1provided by HGNC
Official Full Name: alkB homolog 1, histone H2A dioxygenaseprovided by HGNC
Primary source: HGNC:HGNC:17911
See related: Ensembl:ENSG00000100601 MIM:605345; AllianceGenome:HGNC:17911
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: ABH; ABH1; alkB; hABH; ALKBH
Summary: This gene encodes a homolog to the E. coli alkB gene product. The E. coli alkB protein is part of the adaptive response mechanism of DNA alkylation damage repair. It is involved in damage reversal by oxidative demethylation of 1-methyladenine and 3-methylcytosine. [provided by RefSeq, Jul 2008]
Expression: Ubiquitous expression in testis (RPKM 4.0), thyroid (RPKM 3.4) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 14q24.3

Exon count:: 6

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	14	NC_000014.9 (77672404..77708023, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	14	NC_060938.1 (71881741..71917378, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	14	NC_000014.8 (78138747..78174366, complement)

Chromosome 14 - NC_000014.9 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

The N[6]-methyladenine DNA demethylase ALKBH1 promotes gastric carcinogenesis by disrupting NRF1 binding capacity.
Title: The N(6)-methyladenine DNA demethylase ALKBH1 promotes gastric carcinogenesis by disrupting NRF1 binding capacity.
DNA 6mA demethylase ALKBH1 regulates DDX18 expression to promote proliferation of human head and neck squamous cell carcinoma.
Title: DNA 6mA demethylase ALKBH1 regulates DDX18 expression to promote proliferation of human head and neck squamous cell carcinoma.
ALKBH1 contributes to renal cell carcinoma progression by reducing N6-methyladenine of GPR137.
Title: ALKBH1 contributes to renal cell carcinoma progression by reducing N6-methyladenine of GPR137.
Evaluating the Potential for ABO-incompatible Islet Transplantation: Expression of ABH Antigens on Human Pancreata, Isolated Islets, and Embryonic Stem Cell-derived Islets.
Title: Evaluating the Potential for ABO-incompatible Islet Transplantation: Expression of ABH Antigens on Human Pancreata, Isolated Islets, and Embryonic Stem Cell-derived Islets.
DNA demethylase ALKBH1 promotes adipogenic differentiation via regulation of HIF-1 signaling.
Title: DNA demethylase ALKBH1 promotes adipogenic differentiation via regulation of HIF-1 signaling.
Demethyltransferase AlkBH1 substrate diversity and relationship to human diseases.
Title: Demethyltransferase AlkBH1 substrate diversity and relationship to human diseases.
ALKBH1-demethylated DNA N6-methyladenine modification triggers vascular calcification via osteogenic reprogramming in chronic kidney disease.
Title: ALKBH1-demethylated DNA N6-methyladenine modification triggers vascular calcification via osteogenic reprogramming in chronic kidney disease.
ALKBH1 promotes lung cancer by regulating m6A RNA demethylation.
Title: ALKBH1 promotes lung cancer by regulating m6A RNA demethylation.
A positive feedback loop between AlkB homolog 5 and miR-193a-3p promotes growth and metastasis in esophageal squamous cell carcinoma.
Title: A positive feedback loop between AlkB homolog 5 and miR-193a-3p promotes growth and metastasis in esophageal squamous cell carcinoma.
Structural basis of nucleic acid recognition and 6mA demethylation by human ALKBH1.
Title: Structural basis of nucleic acid recognition and 6mA demethylation by human ALKBH1.

Submit: New GeneRIF Correction See all GeneRIFs (30)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Genome-wide association study of prognosis in advanced non-small cell lung cancer patients receiving platinum-based chemotherapy. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

STS-X91992 (e-PCR)
- UniSTS:42518

D10S275 (e-PCR)
- UniSTS:147992

PMC156606P1 (e-PCR)
- UniSTS:271408

RH46436 (e-PCR)
- UniSTS:48487

G35523 (e-PCR)
- UniSTS:62126

GDB:335751 (e-PCR)
- UniSTS:156601

RH69686 (e-PCR)
- UniSTS:36861

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables 2-oxoglutarate-dependent dioxygenase activity	IDA Inferred from Direct Assay more info	PubMed
enables DNA N6-methyladenine demethylase activity	IEA Inferred from Electronic Annotation more info
enables broad specificity oxidative DNA demethylase activity	IBA Inferred from Biological aspect of Ancestor more info
enables broad specificity oxidative DNA demethylase activity	IDA Inferred from Direct Assay more info	PubMed
enables chemoattractant activity	IEA Inferred from Electronic Annotation more info
enables class I DNA-(apurinic or apyrimidinic site) endonuclease activity	IDA Inferred from Direct Assay more info	PubMed
enables ferrous iron binding	IBA Inferred from Biological aspect of Ancestor more info
enables ferrous iron binding	IDA Inferred from Direct Assay more info	PubMed
enables oxidative RNA demethylase activity	IBA Inferred from Biological aspect of Ancestor more info
enables oxidative RNA demethylase activity	IDA Inferred from Direct Assay more info	PubMed
enables tRNA binding	IDA Inferred from Direct Assay more info	PubMed
enables tRNA demethylase activity	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in DNA repair	IDA Inferred from Direct Assay more info	PubMed
involved_in RNA repair	IEA Inferred from Electronic Annotation more info
involved_in developmental growth	IEA Inferred from Electronic Annotation more info
involved_in in utero embryonic development	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of neuron apoptotic process	IEA Inferred from Electronic Annotation more info
involved_in neuron migration	IEA Inferred from Electronic Annotation more info
involved_in neuron projection development	IEA Inferred from Electronic Annotation more info
involved_in oxidative RNA demethylation	IBA Inferred from Biological aspect of Ancestor more info
involved_in oxidative RNA demethylation	IDA Inferred from Direct Assay more info	PubMed
involved_in placenta development	IEA Inferred from Electronic Annotation more info
involved_in positive chemotaxis	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of gene expression, epigenetic	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of mitochondrial translation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of translational elongation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of translational initiation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of translational initiation by tRNA modification	IDA Inferred from Direct Assay more info	PubMed
involved_in tRNA wobble cytosine modification	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in endoplasmic reticulum	IDA Inferred from Direct Assay more info
located_in euchromatin	IEA Inferred from Electronic Annotation more info
located_in mitochondrion	HTP more info	PubMed
located_in mitochondrion	IDA Inferred from Direct Assay more info	PubMed
located_in nucleoplasm	IDA Inferred from Direct Assay more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: nucleic acid dioxygenase ALKBH1

Names: DNA 6mA demethylase; DNA N6-methyl adenine demethylase ALKBH1; DNA demethylase ALKBH1; DNA lyase ABH1; DNA oxidative demethylase ALKBH1; alkB, alkylation repair homolog 1; alkylated DNA repair protein alkB homolog 1; alkylation repair, alkB homolog; alpha-ketoglutarate-dependent dioxygenase ABH1; mRNA N(3)-methylcytidine demethylase; tRNA N1-methyl adenine demethylase

NP_006011.2

EC 1.14.11.33

EC 1.14.11.51

EC 4.2.99.18

XP_047287804.1

EC 1.14.11.33

EC 1.14.11.51

EC 4.2.99.18

XP_054232852.1

EC 1.14.11.33

EC 1.14.11.51

EC 4.2.99.18

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)

NM_006020.3 → NP_006011.2 nucleic acid dioxygenase ALKBH1

See identical proteins and their annotated locations for NP_006011.2

Status: REVIEWED

Source sequence(s)

AC008044, BC015024, BC025787

Consensus CDS

CCDS32127.1

UniProtKB/Swiss-Prot

Q13686, Q8TAU1, Q9ULA7

UniProtKB/TrEMBL

Q5XKL0

Related

ENSP00000216489.3, ENST00000216489.8

Conserved Domains (1) summary

TIGR00568
Location:119 → 289

alkb; DNA alkylation damage repair protein AlkB

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000014.9 Reference GRCh38.p14 Primary Assembly

Range

77672404..77708023 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_047431848.1 → XP_047287804.1 nucleic acid dioxygenase ALKBH1 isoform X1

Alternate T2T-CHM13v2.0

Genomic

NC_060938.1 Alternate T2T-CHM13v2.0

Range

71881741..71917378 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054376877.1 → XP_054232852.1 nucleic acid dioxygenase ALKBH1 isoform X1

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

NM_001039506.1: Suppressed sequence

Description

NM_001039506.1: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.