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] See more...

Aliases for ALKBH1 Gene

Aliases for ALKBH1 Gene

  • AlkB Homolog 1, Histone H2A Dioxygenase 2 3 5
  • Alpha-Ketoglutarate-Dependent Dioxygenase ABH1 3 4
  • Alkylated DNA Repair Protein AlkB Homolog 1 3 4
  • DNA N6-Methyl Adenine Demethylase ALKBH1 3 4
  • MRNA N(3)-Methylcytidine Demethylase 3 4
  • DNA Oxidative Demethylase ALKBH1 3 4
  • Nucleic Acid Dioxygenase ALKBH1 3 4
  • DNA 6mA Demethylase 3 4
  • DNA Lyase ABH1 3 4
  • ALKBH 3 4
  • ABH1 3 4
  • ABH 3 4
  • AlkB, Alkylation Repair Homolog 1 (E. Coli) 2
  • AlkB, Alkylation Repair Homolog (E. Coli) 2
  • TRNA N1-Methyl Adenine Demethylase 3
  • DNA N6-Methyl Adenine Demethylase 3
  • AlkB, Alkylation Repair Homolog 1 3
  • Alkylation Repair, AlkB Homolog 3
  • DNA Demethylase ALKBH1 3
  • EC 1.14.11.51 4
  • EC 1.14.11.33 4
  • EC 1.14.11.- 4
  • EC 4.2.99.18 4
  • AlkB 3
  • HABH 3

External Ids for ALKBH1 Gene

Previous HGNC Symbols for ALKBH1 Gene

  • ALKBH

Previous GeneCards Identifiers for ALKBH1 Gene

  • GC14M077208
  • GC14M078138
  • GC14M058306

Summaries for ALKBH1 Gene

Entrez Gene Summary for ALKBH1 Gene

  • 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]

GeneCards Summary for ALKBH1 Gene

ALKBH1 (AlkB Homolog 1, Histone H2A Dioxygenase) is a Protein Coding gene. Diseases associated with ALKBH1 include Salivary Gland Carcinoma and Heel Spur. Among its related pathways are Integrated Breast Cancer Pathway. Gene Ontology (GO) annotations related to this gene include chemoattractant activity and DNA-(apurinic or apyrimidinic site) endonuclease activity.

UniProtKB/Swiss-Prot Summary for ALKBH1 Gene

  • Dioxygenase that acts as on nucleic acids, such as DNA and tRNA (PubMed:18603530, PubMed:27745969, PubMed:27497299). Requires molecular oxygen, alpha-ketoglutarate and iron (PubMed:18603530, PubMed:27497299). A number of activities have been described for this dioxygenase, but recent results suggest that it mainly acts as on tRNAs and mediates their demethylation or oxidation depending on the context and subcellular compartment (PubMed:27745969, PubMed:27497299). Mainly acts as a tRNA demethylase by removing N(1)-methyladenine from various tRNAs, with a preference for N(1)-methyladenine at position 58 (m1A58) present on a stem loop structure of tRNAs (PubMed:27745969). Acts as a regulator of translation initiation and elongation in response to glucose deprivation: regulates both translation initiation, by mediating demethylation of tRNA(Met), and translation elongation, N(1)-methyladenine-containing tRNAs being preferentially recruited to polysomes to promote translation elongation (PubMed:27745969). In mitochondrion, specifically interacts with mt-tRNA(Met) and mediates oxidation of mt-tRNA(Met) methylated at cytosine(34) to form 5-formylcytosine (f(5)c) at this position (PubMed:27497299). mt-tRNA(Met) containing the f(5)c modification at the wobble position enables recognition of the AUA codon in addition to the AUG codon, expanding codon recognition in mitochondrial translation (PubMed:27497299). Specifically demethylates DNA methylated on the 6th position of adenine (N(6)-methyladenosine) DNA (PubMed:30017583). N(6)-methyladenosine (m6A) DNA is present at some L1 elements in embryonic stem cells and probably promotes their silencing (By similarity). Demethylates mRNAs containing N(3)-methylcytidine modification (PubMed:31188562). Also able to repair alkylated single-stranded DNA by oxidative demethylation, but with low activity (PubMed:18603530). Also has DNA lyase activity and introduces double-stranded breaks at abasic sites: cleaves both single-stranded DNA and double-stranded DNA at abasic sites, with the greatest activity towards double-stranded DNA with two abasic sites (PubMed:19959401). DNA lyase activity does not require alpha-ketboglutarate and iron and leads to the formation of an irreversible covalent protein-DNA adduct with the 5' DNA product (PubMed:19959401, PubMed:23577621). DNA lyase activity is not required during base excision repair and class switch recombination of the immunoglobulin heavy chain during B lymphocyte activation. May play a role in placental trophoblast lineage differentiation (By similarity).

Additional gene information for ALKBH1 Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ALKBH1 Gene

Genomics for ALKBH1 Gene

GeneHancer (GH) Regulatory Elements for ALKBH1 Gene

Promoters and enhancers for ALKBH1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ALKBH1 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ALKBH1

Top Transcription factor binding sites by QIAGEN in the ALKBH1 gene promoter:
  • C/EBPalpha
  • CHOP-10
  • Elk-1
  • ER-alpha
  • FOXL1
  • Nkx2-5
  • POU3F2
  • POU3F2 (N-Oct-5a)
  • POU3F2 (N-Oct-5b)

Genomic Locations for ALKBH1 Gene

Genomic Locations for ALKBH1 Gene
chr14:77,672,404-77,708,032
(GRCh38/hg38)
Size:
35,629 bases
Orientation:
Minus strand
chr14:78,138,747-78,174,363
(GRCh37/hg19)
Size:
35,617 bases
Orientation:
Minus strand

Genomic View for ALKBH1 Gene

Genes around ALKBH1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ALKBH1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ALKBH1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ALKBH1 Gene

Proteins for ALKBH1 Gene

  • Protein details for ALKBH1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q13686-ALKB1_HUMAN
    Recommended name:
    Nucleic acid dioxygenase ALKBH1
    Protein Accession:
    Q13686
    Secondary Accessions:
    • Q8TAU1
    • Q9ULA7

    Protein attributes for ALKBH1 Gene

    Size:
    389 amino acids
    Molecular mass:
    43832 Da
    Cofactor:
    Name=Fe(2+); Xref=ChEBI:CHEBI:29033;
    Quaternary structure:
    • Monomer (PubMed:19959401). Interacts with DNAJB6 (By similarity).
    SequenceCaution:
    • Sequence=CAA63047.1; Type=Frameshift; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for ALKBH1 Gene

neXtProt entry for ALKBH1 Gene

Post-translational modifications for ALKBH1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for ALKBH1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for ALKBH1 Gene

Domains & Families for ALKBH1 Gene

Gene Families for ALKBH1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Enzymes
  • Plasma proteins
  • Predicted intracellular proteins

Protein Domains for ALKBH1 Gene

Suggested Antigen Peptide Sequences for ALKBH1 Gene

GenScript: Design optimal peptide antigens:
  • DNA lyase ABH1 (ALKB1_HUMAN)
  • ALKBH1 protein (Q5XKL0_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q13686

UniProtKB/Swiss-Prot:

ALKB1_HUMAN :
  • Belongs to the alkB family.
Family:
  • Belongs to the alkB family.
genes like me logo Genes that share domains with ALKBH1: view

Function for ALKBH1 Gene

Molecular function for ALKBH1 Gene

UniProtKB/Swiss-Prot Function:
Dioxygenase that acts as on nucleic acids, such as DNA and tRNA (PubMed:18603530, PubMed:27745969, PubMed:27497299). Requires molecular oxygen, alpha-ketoglutarate and iron (PubMed:18603530, PubMed:27497299). A number of activities have been described for this dioxygenase, but recent results suggest that it mainly acts as on tRNAs and mediates their demethylation or oxidation depending on the context and subcellular compartment (PubMed:27745969, PubMed:27497299). Mainly acts as a tRNA demethylase by removing N(1)-methyladenine from various tRNAs, with a preference for N(1)-methyladenine at position 58 (m1A58) present on a stem loop structure of tRNAs (PubMed:27745969). Acts as a regulator of translation initiation and elongation in response to glucose deprivation: regulates both translation initiation, by mediating demethylation of tRNA(Met), and translation elongation, N(1)-methyladenine-containing tRNAs being preferentially recruited to polysomes to promote translation elongation (PubMed:27745969). In mitochondrion, specifically interacts with mt-tRNA(Met) and mediates oxidation of mt-tRNA(Met) methylated at cytosine(34) to form 5-formylcytosine (f(5)c) at this position (PubMed:27497299). mt-tRNA(Met) containing the f(5)c modification at the wobble position enables recognition of the AUA codon in addition to the AUG codon, expanding codon recognition in mitochondrial translation (PubMed:27497299). Specifically demethylates DNA methylated on the 6th position of adenine (N(6)-methyladenosine) DNA (PubMed:30017583). N(6)-methyladenosine (m6A) DNA is present at some L1 elements in embryonic stem cells and probably promotes their silencing (By similarity). Demethylates mRNAs containing N(3)-methylcytidine modification (PubMed:31188562). Also able to repair alkylated single-stranded DNA by oxidative demethylation, but with low activity (PubMed:18603530). Also has DNA lyase activity and introduces double-stranded breaks at abasic sites: cleaves both single-stranded DNA and double-stranded DNA at abasic sites, with the greatest activity towards double-stranded DNA with two abasic sites (PubMed:19959401). DNA lyase activity does not require alpha-ketboglutarate and iron and leads to the formation of an irreversible covalent protein-DNA adduct with the 5' DNA product (PubMed:19959401, PubMed:23577621). DNA lyase activity is not required during base excision repair and class switch recombination of the immunoglobulin heavy chain during B lymphocyte activation. May play a role in placental trophoblast lineage differentiation (By similarity).
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=The C-O-P bond 3' to the apurinic or apyrimidinic site in DNA is broken by a beta-elimination reaction, leaving a 3'-terminal unsaturated sugar and a product with a terminal 5'-phosphate.; EC=4.2.99.18; Evidence=. ;.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=2-oxoglutarate + a methylated nucleobase within DNA + O2 = a nucleobase within DNA + CO2 + formaldehyde + succinate; Xref=Rhea:RHEA:30299, Rhea:RHEA-COMP:12192, Rhea:RHEA-COMP:12193, ChEBI:CHEBI:15379, ChEBI:CHEBI:16526, ChEBI:CHEBI:16810, ChEBI:CHEBI:16842, ChEBI:CHEBI:30031, ChEBI:CHEBI:32875, ChEBI:CHEBI:64428; EC=1.14.11.33; Evidence=. ;.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=2-oxoglutarate + an N(6)-methyl-2'-deoxyadenosine in DNA + O2 = a 2'-deoxyadenosine in DNA + CO2 + formaldehyde + succinate; Xref=Rhea:RHEA:49524, Rhea:RHEA-COMP:12418, Rhea:RHEA-COMP:12419, ChEBI:CHEBI:15379, ChEBI:CHEBI:16526, ChEBI:CHEBI:16810, ChEBI:CHEBI:16842, ChEBI:CHEBI:30031, ChEBI:CHEBI:90615, ChEBI:CHEBI:90616; EC=1.14.11.51; Evidence=. ;.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=2-oxoglutarate + an N(1)-methyladenosine in tRNA + O2 = an adenosine in tRNA + CO2 + formaldehyde + succinate; Xref=Rhea:RHEA:54576, Rhea:RHEA-COMP:10242, Rhea:RHEA-COMP:12312, ChEBI:CHEBI:15379, ChEBI:CHEBI:16526, ChEBI:CHEBI:16810, ChEBI:CHEBI:16842, ChEBI:CHEBI:30031, ChEBI:CHEBI:74411, ChEBI:CHEBI:74491; Evidence=. ;.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=2 2-oxoglutarate + 5-methylcytidine(34) in mitochondrial tRNA(Met) + 2 O2 = 5-formylcytidine(34) in mitochondrial tRNA(Met) + 2 CO2 + H2O + 2 succinate; Xref=Rhea:RHEA:54144, Rhea:RHEA-COMP:13808, Rhea:RHEA-COMP:13809, ChEBI:CHEBI:15377, ChEBI:CHEBI:15379, ChEBI:CHEBI:16526, ChEBI:CHEBI:16810, ChEBI:CHEBI:30031, ChEBI:CHEBI:74483, ChEBI:CHEBI:138075; Evidence=. ;.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=2-oxoglutarate + an N(3)-methylcytidine in mRNA + O2 = a cytidine in mRNA + CO2 + formaldehyde + succinate; Xref=Rhea:RHEA:60920, Rhea:RHEA-COMP:15145, Rhea:RHEA-COMP:15713, ChEBI:CHEBI:15379, ChEBI:CHEBI:16526, ChEBI:CHEBI:16810, ChEBI:CHEBI:16842, ChEBI:CHEBI:30031, ChEBI:CHEBI:74894, ChEBI:CHEBI:82748; Evidence=. ; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:60921; Evidence=. ;.

Enzyme Numbers (IUBMB) for ALKBH1 Gene

Phenotypes From GWAS Catalog for ALKBH1 Gene

Gene Ontology (GO) - Molecular Function for ALKBH1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000049 tRNA binding IDA 27497299
GO:0003824 catalytic activity IEA --
GO:0008198 ferrous iron binding IDA 18603530
GO:0016491 oxidoreductase activity IEA --
GO:0016706 oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors IDA 27497299
genes like me logo Genes that share ontologies with ALKBH1: view
genes like me logo Genes that share phenotypes with ALKBH1: view

Animal Models for ALKBH1 Gene

MGI Knock Outs for ALKBH1:

Animal Model Products

  • Taconic Biosciences Mouse Models for ALKBH1

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ALKBH1

Clone Products

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for ALKBH1 Gene

Localization for ALKBH1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ALKBH1 Gene

Nucleus. Mitochondrion. Note=Mainly localizes in euchromatin, largely excluded from heterochromatin and nucleoli (By similarity). {ECO:0000250 UniProtKB:P0CB42}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ALKBH1 gene
Compartment Confidence
mitochondrion 5
nucleus 5
endoplasmic reticulum 4
extracellular 2
cytosol 2
plasma membrane 1
cytoskeleton 1
peroxisome 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoplasm (3)
  • Endoplasmic reticulum (1)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for ALKBH1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005654 nucleoplasm IDA --
GO:0005719 nuclear euchromatin IBA,IEA 21873635
GO:0005739 mitochondrion IBA,IDA 18603530
GO:0005783 endoplasmic reticulum IDA --
genes like me logo Genes that share ontologies with ALKBH1: view

Pathways & Interactions for ALKBH1 Gene

PathCards logo

SuperPathways for ALKBH1 Gene

genes like me logo Genes that share pathways with ALKBH1: view

Pathways by source for ALKBH1 Gene

1 BioSystems pathway for ALKBH1 Gene

Interacting Proteins for ALKBH1 Gene

;

Gene Ontology (GO) - Biological Process for ALKBH1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001701 in utero embryonic development IEA --
GO:0001764 neuron migration IEA --
GO:0001890 placenta development IEA --
GO:0002101 tRNA wobble cytosine modification IDA 27497299
GO:0006281 DNA repair IDA,IEA 18603530
genes like me logo Genes that share ontologies with ALKBH1: view

No data available for SIGNOR curated interactions for ALKBH1 Gene

Drugs & Compounds for ALKBH1 Gene

(5) Drugs for ALKBH1 Gene - From: HMDB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Formaldehyde Approved, Vet_approved Pharma 136
Oxygen Approved, Vet_approved Pharma 0
Succinic acid Approved Nutra Full agonist, Agonist 0
Oxogluric acid Experimental, Investigational Nutra 0

(7) Additional Compounds for ALKBH1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with ALKBH1: view

Transcripts for ALKBH1 Gene

mRNA/cDNA for ALKBH1 Gene

2 REFSEQ mRNAs :
4 NCBI additional mRNA sequence :
4 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ALKBH1

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for ALKBH1 Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6a · 6b · 6c · 6d
SP1:
SP2: -
SP3: - -
SP4: - -

Relevant External Links for ALKBH1 Gene

GeneLoc Exon Structure for
ALKBH1

Expression for ALKBH1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for ALKBH1 Gene

Protein differential expression in normal tissues from HIPED for ALKBH1 Gene

This gene is overexpressed in Pancreas (35.5) and Fetal testis (33.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for ALKBH1 Gene



Protein tissue co-expression partners for ALKBH1 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ALKBH1

SOURCE GeneReport for Unigene cluster for ALKBH1 Gene:

Hs.94542

mRNA Expression by UniProt/SwissProt for ALKBH1 Gene:

Q13686-ALKB1_HUMAN
Tissue specificity: Ubiquitous.

Evidence on tissue expression from TISSUES for ALKBH1 Gene

  • Pancreas(4.2)
genes like me logo Genes that share expression patterns with ALKBH1: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for ALKBH1 Gene

Orthologs for ALKBH1 Gene

This gene was present in the common ancestor of animals.

Orthologs for ALKBH1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ALKBH1 31 30
  • 99.74 (n)
OneToOne
cow
(Bos Taurus)
Mammalia ALKBH1 31 30
  • 87.55 (n)
OneToOne
dog
(Canis familiaris)
Mammalia ALKBH1 31 30
  • 86.72 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Alkbh1 17 31 30
  • 84.49 (n)
rat
(Rattus norvegicus)
Mammalia Alkbh1 30
  • 78.57 (n)
oppossum
(Monodelphis domestica)
Mammalia ALKBH1 31
  • 77 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ALKBH1 31
  • 77 (a)
OneToOne
chicken
(Gallus gallus)
Aves ALKBH1 31 30
  • 69.03 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ALKBH1 31
  • 65 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia alkbh1 30
  • 57.52 (n)
Str.16044 30
African clawed frog
(Xenopus laevis)
Amphibia Xl.24969 30
zebrafish
(Danio rerio)
Actinopterygii alkbh1 31 30
  • 60.7 (n)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.1823 30
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP000155 30
  • 50.87 (n)
fruit fly
(Drosophila melanogaster)
Insecta AlkB 31 30
  • 46.26 (n)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea Y51H7C.5 31 30
  • 45.1 (n)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea CSA.10211 31
  • 39 (a)
OneToOne
Species where no ortholog for ALKBH1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for ALKBH1 Gene

ENSEMBL:
Gene Tree for ALKBH1 (if available)
TreeFam:
Gene Tree for ALKBH1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for ALKBH1: view image

Paralogs for ALKBH1 Gene

No data available for Paralogs for ALKBH1 Gene

Variants for ALKBH1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ALKBH1 Gene

SNP ID Clinical significance and condition Chr 14 pos Variation AA Info Type
rs17825440 - p.Met135Ile
rs6494 - p.Met324Leu

Additional dbSNP identifiers (rs#s) for ALKBH1 Gene

Structural Variations from Database of Genomic Variants (DGV) for ALKBH1 Gene

Variant ID Type Subtype PubMed ID
esv2759998 CNV gain 17122850
esv34940 CNV gain 17911159
esv3635010 CNV gain 21293372
esv3635012 CNV gain 21293372
nsv1053810 CNV gain 25217958
nsv520021 CNV gain 19592680
nsv521287 CNV gain 19592680
nsv9156 CNV loss 18304495
nsv976357 CNV duplication 23825009

Variation tolerance for ALKBH1 Gene

Residual Variation Intolerance Score: 69.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.76; 66.62% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ALKBH1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
ALKBH1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ALKBH1 Gene

Disorders for ALKBH1 Gene

MalaCards: The human disease database

(4) MalaCards diseases for ALKBH1 Gene - From: DISEASES

Disorder Aliases PubMed IDs
salivary gland carcinoma
  • salivary gland cancer
heel spur
  • calcaneal spur
salivary gland disease
  • non-neoplastic salivary gland disease
xeroderma pigmentosum, variant type
  • xpv
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for ALKBH1

genes like me logo Genes that share disorders with ALKBH1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for ALKBH1 Gene

Publications for ALKBH1 Gene

  1. Molecular cloning and functional analysis of a human cDNA encoding an Escherichia coli AlkB homolog, a protein involved in DNA alkylation damage repair. (PMID: 8600462) Wei YF … Shell BK (Nucleic acids research 1996) 2 3 4 23 54
  2. ALKBH1 is a histone H2A dioxygenase involved in neural differentiation. (PMID: 22961808) Ougland R … Larsen E (Stem cells (Dayton, Ohio) 2012) 2 3 4 54
  3. Human AlkB homologue 1 (ABH1) exhibits DNA lyase activity at abasic sites. (PMID: 19959401) Müller TA … Hausinger RP (DNA repair 2010) 3 4 23 54
  4. AlkB Homologue 1 Demethylates N3-Methylcytidine in mRNA of Mammals. (PMID: 31188562) Ma CJ … Feng YQ (ACS chemical biology 2019) 3 4 54
  5. N6-Methyladenine DNA Modification in the Human Genome. (PMID: 30017583) Xiao CL … Yan GR (Molecular cell 2018) 3 4 54

Products for ALKBH1 Gene

Sources for ALKBH1 Gene