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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 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
  • AlkB, Alkylation Repair Homolog 1 3
  • Alkylation Repair, AlkB Homolog 3
  • EC 1.14.11.33 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. Among its related pathways are Integrated Breast Cancer Pathway. GO annotations related to this gene include chemoattractant activity and DNA-(apurinic or apyrimidinic site) lyase activity.

UniProtKB/Swiss-Prot for ALKBH1 Gene

  • Dioxygenase that repairs alkylated single-stranded DNA and RNA containing 3-methylcytosine by oxidative demethylation. Requires molecular oxygen, alpha-ketoglutarate and iron. May have a role in placental trophoblast lineage differentiation (By similarity). 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. DNA lyase activity does not require alpha-ketoglutarate and iron.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ALKBH1 Gene

Genomics for ALKBH1 Gene

Regulatory Elements for ALKBH1 Gene

Enhancers for ALKBH1 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around ALKBH1 on UCSC Golden Path with GeneCards custom track

Genomic Location for ALKBH1 Gene

Chromosome:
14
Start:
77,672,404 bp from pter
End:
77,708,032 bp from pter
Size:
35,629 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:
    DNA oxidative demethylase 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. Interacts with DNAJB6 (By similarity).
    SequenceCaution:
    • Sequence=CAA63047.1; Type=Frameshift; Positions=Several; Evidence={ECO:0000305};

neXtProt entry for ALKBH1 Gene

Proteomics data for ALKBH1 Gene at MOPED

Post-translational modifications for ALKBH1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for ALKBH1 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

No data available for DME Specific Peptides for ALKBH1 Gene

Domains & Families for ALKBH1 Gene

Gene Families for ALKBH1 Gene

Protein Domains for ALKBH1 Gene

Suggested Antigen Peptide Sequences for ALKBH1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q13686

UniProtKB/Swiss-Prot:

ALKB1_HUMAN :
  • Contains 1 Fe2OG dioxygenase domain.
  • Belongs to the alkB family.
Domain:
  • Contains 1 Fe2OG dioxygenase domain.
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 CatalyticActivity:
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.
UniProtKB/Swiss-Prot CatalyticActivity:
DNA-base-CH(3) + 2-oxoglutarate + O(2) = DNA-base + formaldehyde + succinate + CO(2).
UniProtKB/Swiss-Prot Function:
Dioxygenase that repairs alkylated single-stranded DNA and RNA containing 3-methylcytosine by oxidative demethylation. Requires molecular oxygen, alpha-ketoglutarate and iron. May have a role in placental trophoblast lineage differentiation (By similarity). 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. DNA lyase activity does not require alpha-ketoglutarate and iron.

Enzyme Numbers (IUBMB) for ALKBH1 Gene

Gene Ontology (GO) - Molecular Function for ALKBH1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016491 oxidoreductase activity IEA --
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

miRNA for ALKBH1 Gene

miRTarBase miRNAs that target ALKBH1

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

Mitochondrion. Nucleus. Note=Mainly localizes in euchromatin, largely excluded from heterochromatin and nucleoli. {ECO:0000250}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for ALKBH1 Gene COMPARTMENTS Subcellular localization image for ALKBH1 gene
Compartment Confidence
mitochondrion 5
nucleus 4
extracellular 2
cytosol 1
lysosome 1
peroxisome 1
plasma membrane 1
vacuole 1

No data available for Gene Ontology (GO) - Cellular Components for ALKBH1 Gene

Pathways & Interactions 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

STRING Interaction Network Preview (showing 2 interactants - click image to see details)
http://string-db.org/version_10/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000216489%0d%0a9606.ENSP00000262177%0d%0a9606.ENSP00000344818%0d%0a
Selected Interacting proteins: ENSP00000216489 Q13686-ALKB1_HUMAN for ALKBH1 Gene via STRING I2D

Gene Ontology (GO) - Biological Process for ALKBH1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001764 neuron migration IEA --
GO:0010468 regulation of gene expression IEA --
GO:0030154 cell differentiation IEA --
GO:0042245 RNA repair IDA 18603530
GO:0050918 positive chemotaxis IEA --
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

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Succinic acid Approved Nutra Full agonist, Agonist 0
Formaldehyde Experimental Pharma 78

(9) Additional Compounds for ALKBH1 Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
oxygen
  • Dioxygen
  • Molecular oxygen
  • O2
  • Oxygen
  • Oxygen molecule
7782-44-7
Oxoglutaric acid
  • 2-Ketoglutarate
  • 2-Ketoglutaric acid
  • 2-Oxo-1,5-pentanedioate
  • 2-Oxo-1,5-pentanedioic acid
  • 2-Oxoglutarate
328-50-7
genes like me logo Genes that share compounds with ALKBH1: view

Transcripts for ALKBH1 Gene

Unigene Clusters for ALKBH1 Gene

AlkB, alkylation repair homolog 1 (E. coli):
Representative Sequences:

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
ECgene alternative splicing isoforms for
ALKBH1

Expression for ALKBH1 Gene

mRNA expression in normal human tissues 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, MOPED, and MaxQB for ALKBH1 Gene



SOURCE GeneReport for Unigene cluster for ALKBH1 Gene Hs.94542

mRNA Expression by UniProt/SwissProt for ALKBH1 Gene

Q13686-ALKB1_HUMAN
Tissue specificity: Ubiquitous.
genes like me logo Genes that share expression patterns with ALKBH1: view

Protein tissue co-expression partners for ALKBH1 Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues 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
cow
(Bos Taurus)
Mammalia ALKBH1 35
  • 87.55 (n)
  • 87.91 (a)
ALKBH1 36
  • 87 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ALKBH1 35
  • 86.72 (n)
  • 87.4 (a)
ALKBH1 36
  • 87 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Alkbh1 35
  • 84.49 (n)
  • 82.78 (a)
Alkbh1 16
Alkbh1 36
  • 83 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia ALKBH1 35
  • 99.74 (n)
  • 99.74 (a)
ALKBH1 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Alkbh1 35
  • 78.57 (n)
  • 78.06 (a)
oppossum
(Monodelphis domestica)
Mammalia ALKBH1 36
  • 77 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ALKBH1 36
  • 77 (a)
OneToOne
chicken
(Gallus gallus)
Aves ALKBH1 35
  • 69.03 (n)
  • 70.49 (a)
ALKBH1 36
  • 69 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ALKBH1 36
  • 65 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia alkbh1 35
  • 57.52 (n)
  • 61.71 (a)
Str.16044 35
African clawed frog
(Xenopus laevis)
Amphibia Xl.24969 35
zebrafish
(Danio rerio)
Actinopterygii alkbh1 35
  • 60.7 (n)
  • 59.7 (a)
alkbh1 36
  • 60 (a)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.1823 35
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP000155 35
  • 50.87 (n)
  • 42.57 (a)
fruit fly
(Drosophila melanogaster)
Insecta AlkB 35
  • 46.26 (n)
  • 38.46 (a)
AlkB 36
  • 35 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea Y51H7C.5 35
  • 45.1 (n)
  • 34.95 (a)
Y51H7C.5 36
  • 28 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea CSA.10211 36
  • 39 (a)
OneToOne
Species with no ortholog for ALKBH1:
  • 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)

Paralogs for ALKBH1 Gene

No data available for Paralogs for ALKBH1 Gene

Variants for ALKBH1 Gene

Sequence variations from dbSNP and Humsavar for ALKBH1 Gene

SNP ID Clin Chr 14 pos Sequence Context AA Info Type
rs17825440 - 77,694,788(+) TTAGA(C/T)ATGTG reference, missense
rs6494 - 77,674,012(-) GTTCT(A/G/T)TGGAG reference, missense
rs7492501 -- 77,695,817(+) Aggcc(A/G)ggcgt intron-variant
rs8003070 -- 77,686,714(+) cgcct(C/G)ctggg intron-variant
rs8003389 -- 77,678,233(+) TTACC(A/G)GAGGA intron-variant

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

Variant ID Type Subtype PubMed ID
dgv643e1 CNV Complex 17122850
essv7944 CNV CNV 17122850
esv34940 CNV Gain 17911159
nsv521287 CNV Gain 19592680
nsv9156 CNV Loss 18304495
nsv520021 CNV Gain 19592680

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)

Relevant External Links for ALKBH1 Gene

HapMap Linkage Disequilibrium report
ALKBH1

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

Disorders for ALKBH1 Gene

Relevant External Links for ALKBH1

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ALKBH1

No disorders were found for ALKBH1 Gene.

No data available for MalaCards , 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 Y.F. … Shell B.K. (Nucleic Acids Res. 1996) 2 3 4 23 67
  2. ALKBH1 is a histone H2A dioxygenase involved in neural differentiation. (PMID: 22961808) Ougland R. … Larsen E. (Stem Cells 2012) 2 3
  3. Human AlkB homologue 1 (ABH1) exhibits DNA lyase activity at abasic sites. (PMID: 19959401) Muller T.A. … Hausinger R.P. (DNA Repair 2010) 3 23
  4. Human and bacterial oxidative demethylases repair alkylation damage in both RNA and DNA. (PMID: 12594517) Aas P.A. … Krokan H.E. (Nature 2003) 3 23
  5. The AlkB Family of Fe(II)/I+-Ketoglutarate-dependent Dioxygenases: Repairing Nucleic Acid Alkylation Damage and Beyond. (PMID: 26152727) Fedeles B.I. … Essigmann J.M. (J. Biol. Chem. 2015) 3

Products for ALKBH1 Gene

Sources for ALKBH1 Gene

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