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Aliases for ALKBH1 Gene

Aliases for ALKBH1 Gene

  • AlkB, Alkylation Repair Homolog 1 (E. Coli) 2 3
  • Alpha-Ketoglutarate-Dependent Dioxygenase ABH1 3 4
  • DNA Oxidative Demethylase ALKBH1 3 4
  • DNA Lyase ABH1 3 4
  • ALKBH 3 4
  • AlkB 3 6
  • ABH1 3 4
  • ABH 3 4
  • Alkylated DNA Repair Protein AlkB Homolog 1 3
  • AlkB, Alkylation Repair Homolog (E. Coli) 2
  • Alkylation Repair, AlkB Homolog 3
  • EC 1.14.11.33 4
  • EC 4.2.99.18 4
  • HABH 3

External Ids for ALKBH1 Gene

Previous Symbols for ALKBH1 Gene

  • ALKBH

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, Alkylation Repair Homolog 1 (E. Coli)) 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

Genomic Location for ALKBH1 Gene

Start:
77,672,404 bp from pter
End:
77,708,022 bp from pter
Size:
35,619 bases
Orientation:
Minus strand

Genomic View for ALKBH1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for ALKBH1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ALKBH1 Gene

Regulatory Elements for ALKBH1 Gene

Proteins for ALKBH1 Gene

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

    Protein Symbol:
    Q13686-ALKB1_HUMAN
    Recommended name:
    Alkylated DNA repair protein alkB homolog 1
    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; Note=Binds 1 Fe(2+) ion per subunit.;
    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:

No data available for DME Specific Peptides for ALKBH1 Gene

Domains for ALKBH1 Gene

Gene Families for ALKBH1 Gene

HGNC:
  • ALKB :Alkylation repair homologs

Protein Domains for ALKBH1 Gene

UniProtKB/Swiss-Prot:

ALKB1_HUMAN
Domain:
  • Contains 1 Fe2OG dioxygenase domain.:
    • Q13686
Family:
  • Belongs to the alkB family.:
    • Q13686
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:0003906 DNA-(apurinic or apyrimidinic site) lyase activity IDA 19959401
GO:0005515 protein binding --
GO:0008198 ferrous iron binding IDA 18603530
GO:0042056 chemoattractant activity IEA --
GO:0070579 methylcytosine dioxygenase activity IDA 18603530
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:

miRNA for ALKBH1 Gene

miRTarBase miRNAs that target ALKBH1

No data available for Transcription Factor Targeting 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
extracellular 2
nucleus 2
cytosol 1
lysosome 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for ALKBH1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005719 nuclear euchromatin IEA --
GO:0005739 mitochondrion IDA 18603530
genes like me logo Genes that share ontologies with ALKBH1: view

Pathways 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:0000737 DNA catabolic process, endonucleolytic --
GO:0001701 in utero embryonic development IEA --
GO:0001764 neuron migration IEA --
GO:0001890 placenta development IEA --
GO:0006281 DNA repair IDA 18603530
genes like me logo Genes that share ontologies with ALKBH1: view

Compounds for ALKBH1 Gene

(10) Novoseek inferred chemical compound relationships for ALKBH1 Gene

Compound -log(P) Hits PubMed IDs
3-methylcytosine 97.9 5
1-methyladenine 94.7 7
alpha-ketoglutarate 73 4
hexadecane 69.4 1
methylnitrosourea 58.2 1
genes like me logo Genes that share compounds with ALKBH1: view

Transcripts for ALKBH1 Gene

mRNA/cDNA 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

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, 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 expressions with ALKBH1: view

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 36
  • 99.74 (n)
  • 99.74 (a)
ALKBH1 37
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia ALKBH1 36
  • 87.55 (n)
  • 87.91 (a)
ALKBH1 37
  • 87 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ALKBH1 36
  • 86.72 (n)
  • 87.4 (a)
ALKBH1 37
  • 87 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Alkbh1 36
  • 84.49 (n)
  • 82.78 (a)
Alkbh1 16
Alkbh1 37
  • 83 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia ALKBH1 37
  • 77 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ALKBH1 37
  • 77 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Alkbh1 36
  • 78.57 (n)
  • 78.06 (a)
chicken
(Gallus gallus)
Aves ALKBH1 36
  • 69.03 (n)
  • 70.49 (a)
ALKBH1 37
  • 69 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ALKBH1 37
  • 65 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.24969 36
tropical clawed frog
(Silurana tropicalis)
Amphibia alkbh1 36
  • 57.52 (n)
  • 61.71 (a)
Str.16044 36
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.1823 36
zebrafish
(Danio rerio)
Actinopterygii alkbh1 36
  • 60.7 (n)
  • 59.7 (a)
alkbh1 37
  • 60 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP000155 36
  • 50.87 (n)
  • 42.57 (a)
fruit fly
(Drosophila melanogaster)
Insecta AlkB 36
  • 46.26 (n)
  • 38.46 (a)
AlkB 37
  • 35 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea Y51H7C.5 36
  • 45.1 (n)
  • 34.95 (a)
Y51H7C.5 37
  • 28 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea CSA.10211 37
  • 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 MAF
rs6493 -- 77,673,986(-) GCCAG(C/T)TACTT reference, synonymous-codon
rs6494 - 77,674,012(-) GTTCT(A/T)TGGAG reference, missense
rs759713 -- 77,691,448(+) CTCTG(A/G)CAAAG intron-variant
rs1048147 -- 77,673,645(-) ACTCA(G/T)CCACT utr-variant-3-prime
rs2003594 -- 77,691,025(+) CGAAC(C/T)CCTGA 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

Relevant External Links for ALKBH1 Gene

HapMap Linkage Disequilibrium report
ALKBH1

Disorders for ALKBH1 Gene

(1) Novoseek inferred disease relationships for ALKBH1 Gene

Disease -log(P) Hits PubMed IDs
cancer 0 1
genes like me logo Genes that share disorders with ALKBH1: view

No data available for UniProtKB/Swiss-Prot 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
  2. Human AlkB homologue 1 (ABH1) exhibits DNA lyase activity at abasic sites. (PMID: 19959401) Muller T.A. … Hausinger R.P. (DNA Repair 2010) 3 4 23
  3. Expression and sub-cellular localization of human ABH family molecules. (PMID: 17979886) Tsujikawa K. … Yamamoto H. (J. Cell. Mol. Med. 2007) 4 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 DNA sequence and analysis of human chromosome 14. (PMID: 12508121) Heilig R. … Weissenbach J. (Nature 2003) 3 4

Products for ALKBH1 Gene

Sources for ALKBH1 Gene

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