Format

Send to:

Choose Destination

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

Gene ID: 8846, updated on 10-Oct-2019

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
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

Genomic context

See ALKBH1 in Genome Data Viewer
Location:
14q24.3
Exon count:
6
Annotation release Status Assembly Chr Location
109.20190905 current GRCh38.p13 (GCF_000001405.39) 14 NC_000014.9 (77672404..77708038, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (78138749..78174365, complement)

Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene serine palmitoyltransferase long chain base subunit 2 Neighboring gene RNA, 7SL, cytoplasmic 587, pseudogene Neighboring gene cytochrome c oxidase subunit 6C pseudogene 11 Neighboring gene ribosomal protein L21 pseudogene 10 Neighboring gene zinc finger MYND-type containing 19 pseudogene 1 Neighboring gene SRA stem-loop interacting RNA binding protein Neighboring gene SNW domain containing 1 Neighboring gene chromosome 14 open reading frame 178

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

NHGRI GWAS Catalog

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

Pathways from BioSystems

  • Integrated Breast Cancer Pathway, organism-specific biosystem (from WikiPathways)
    Integrated Breast Cancer Pathway, organism-specific biosystemThis pathway incorporates the most important proteins for Breast Cancer. The Rp score from the Connectivity-Maps (C-Maps) webserver was used to determine the rank of the most important proteins in Br...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Process Evidence Code Pubs
DNA dealkylation involved in DNA repair IDA
Inferred from Direct Assay
more info
PubMed 
DNA demethylation IDA
Inferred from Direct Assay
more info
PubMed 
DNA repair IDA
Inferred from Direct Assay
more info
PubMed 
RNA repair IDA
Inferred from Direct Assay
more info
PubMed 
developmental growth IEA
Inferred from Electronic Annotation
more info
 
in utero embryonic development IEA
Inferred from Electronic Annotation
more info
 
negative regulation of neuron apoptotic process IEA
Inferred from Electronic Annotation
more info
 
neuron migration IEA
Inferred from Electronic Annotation
more info
 
neuron projection development IEA
Inferred from Electronic Annotation
more info
 
oxidative DNA demethylation IEA
Inferred from Electronic Annotation
more info
 
oxidative RNA demethylation IDA
Inferred from Direct Assay
more info
PubMed 
oxidative demethylation IDA
Inferred from Direct Assay
more info
PubMed 
placenta development IEA
Inferred from Electronic Annotation
more info
 
positive chemotaxis IEA
Inferred from Electronic Annotation
more info
 
regulation of mitochondrial translation IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of translational elongation IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of translational initiation IMP
Inferred from Mutant Phenotype
more info
PubMed 
tRNA demethylation IDA
Inferred from Direct Assay
more info
PubMed 
tRNA wobble cytosine modification IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
endoplasmic reticulum IDA
Inferred from Direct Assay
more info
 
mitochondrion IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
mitochondrion IDA
Inferred from Direct Assay
more info
PubMed 
nuclear euchromatin IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nucleoplasm IDA
Inferred from Direct Assay
more info
 

General protein information

Preferred Names
nucleic acid dioxygenase ALKBH1
Names
DNA 6mA demethylase
DNA N6-methyl adenine 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

NCBI Reference Sequences (RefSeq)

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_006020.3NP_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
    UniProtKB/TrEMBL
    Q5XKL0
    Related
    ENSP00000216489.3, ENST00000216489.8
    Conserved Domains (1) summary
    TIGR00568
    Location:119289
    alkb; DNA alkylation damage repair protein AlkB

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109.20190905

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000014.9 Reference GRCh38.p13 Primary Assembly

    Range
    77672404..77708038 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

RNA

  1. XR_001750582.1 RNA Sequence

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_001039506.1: Suppressed sequence

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