Human Gene ALKBH1 (uc001xuc.1) Description and Page Index
Description: Homo sapiens alkB, alkylation repair homolog 1 (E. coli) (ALKBH1), mRNA. RefSeq Summary (NM_006020): 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]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR1803616.180648.1, SRR1660805.27277.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA2467144, SAMN03267755 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000216489.8/ ENSP00000216489.3 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Transcript (Including UTRs) Position: hg19 chr14:78,138,749-78,174,356 Size: 35,608 Total Exon Count: 6 Strand: - Coding Region Position: hg19 chr14:78,140,155-78,174,347 Size: 34,193 Coding Exon Count: 6
ID:ALKB1_HUMAN DESCRIPTION: RecName: Full=Alkylated DNA repair protein alkB homolog 1; EC=18.104.22.168; AltName: Full=Alpha-ketoglutarate-dependent dioxygenase ABH1; AltName: Full=DNA lyase ABH1; EC=22.214.171.124; AltName: Full=DNA oxidative demethylase ALKBH1; 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. CATALYTIC ACTIVITY: 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. CATALYTIC ACTIVITY: DNA-base-CH(3) + 2-oxoglutarate + O(2) = DNA- base + formaldehyde + succinate + CO(2). COFACTOR: Binds 1 Fe(2+) ion per subunit. SUBUNIT: Monomer. Interacts with DNAJB6 (By similarity). SUBCELLULAR LOCATION: Mitochondrion. Nucleus (By similarity). Note=Mainly localizes in euchromatin, largely excluded from heterochromatin and nucleoli (By similarity). TISSUE SPECIFICITY: Ubiquitous. SIMILARITY: Belongs to the alkB family. SIMILARITY: Contains 1 Fe2OG dioxygenase domain. CAUTION: Detected in cytoplasm and nucleus When expressed as fusion protein with an N-terminal tag, or when the first 26 N- terminal residues are removed (PubMed:17979886 and PubMed:18603530). The endogenous, unmodified protein localizes to mitochondria (PubMed:18603530). SEQUENCE CAUTION: Sequence=CAA63047.1; Type=Frameshift; Positions=Several;
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on Q13686
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
Gene Ontology (GO) Annotations with Structured Vocabulary
Molecular Function: GO:0000049 tRNA binding GO:0003824 catalytic activity GO:0003906 DNA-(apurinic or apyrimidinic site) lyase activity GO:0008198 ferrous iron binding GO:0016491 oxidoreductase activity 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 GO:0016829 lyase activity GO:0042056 chemoattractant activity GO:0043734 DNA-N1-methyladenine dioxygenase activity GO:0046872 metal ion binding GO:0051213 dioxygenase activity GO:0070579 methylcytosine dioxygenase activity GO:0103053 1-ethyladenine demethylase activity GO:1990984 tRNA demethylase activity