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
- TRNA N1-Methyl Adenine Demethylase 3 4
- DNA N6-Methyl Adenine Demethylase 3 4
- DNA Oxidative Demethylase ALKBH1 3 4
- DNA 6mA Demethylase 3 4
- DNA Lyase ABH1 3 4
- EC 1.14.11.- 4 4
- ALKBH 3 4
- ABH1 3 4
- ABH 3 4
External Ids for ALKBH1 Gene
- HGNC: 17911
- Entrez Gene: 8846
- Ensembl: ENSG00000100601
- OMIM: 605345
- UniProtKB: Q13686
Previous HGNC Symbols for ALKBH1 Gene
- ALKBH
Previous GeneCards Identifiers for ALKBH1 Gene
- GC14M077208
- GC14M078138
- GC14M058306
Summaries 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. Gene Ontology (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 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. N(6)-methyladenosine (m6A) DNA is present at some L1 elements in embryonic stem cells and probably promotes their silencing (By similarity). Also able to repair alkylated single-stranded DNA and RNA containing 3-methylcytosine 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 , fRNAdb sequence ontologies 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 dump
GeneHancers around ALKBH1 on UCSC Golden Path with GeneCards custom track
- Top Transcription factor binding sites by QIAGEN in the ALKBH1 gene promoter:
Regulatory Element Products
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)
Genomic View for ALKBH1 Gene
Genes around ALKBH1 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 14q24.3 by Ensembl
- 14q24.3 by Entrez Gene
- 14q24.3 by HGNC
ALKBH1 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene 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
- 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; Positions=Several; Evidence={ECO:0000305};
Protein Expression for ALKBH1 Gene
Post-translational modifications for ALKBH1 Gene
Other Protein References for ALKBH1 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
-
Custom Antibody ServicesOriGene Antibodies for ALKBH1
- Novus Biologicals Antibodies for ALKBH1
-
Abcam antibodies for ALKBH1
- Invitrogen Antibodies for ALKBH1
- GeneTex ALKBH1 antibody for ALKBH1
-
Santa Cruz Biotechnology (SCBT) Antibodies for ALKBH1
Protein Products
-
OriGene Purified Proteins for ALKBH1
- Search Origene for MassSpec and Protein Over-expression Lysates for ALKBH1
- Origene Custom Protein Services for ALKBH1
- Search GeneTex for Proteins for ALKBH1
-
Abcam proteins for ALKBH1
Assay Products
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 secreted proteins
Protein Domains for ALKBH1 Gene
- InterPro:
- ProtoNet:
Suggested Antigen Peptide Sequences for ALKBH1 Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
Q13686- Family:
-
- Belongs to the alkB family.
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 CatalyticActivity:
- N(6)-methyladenine in DNA + 2-oxoglutarate + O(2) = adenine in DNA + formaldehyde + succinate + CO(2).
- UniProtKB/Swiss-Prot CatalyticActivity:
- N(1)-methyladenine in tRNA + 2-oxoglutarate + O(2) = adenine in tRNA + formaldehyde + succinate + CO(2).
- UniProtKB/Swiss-Prot CatalyticActivity:
- 5-methylcytosine(34) in mitochondrial tRNA(Met)+ 2-oxoglutarate + O(2) = 5-formylcytosine(34) in mitochondrial tRNA(Met) + formaldehyde + succinate + CO(2).
- 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. N(6)-methyladenosine (m6A) DNA is present at some L1 elements in embryonic stem cells and probably promotes their silencing (By similarity). Also able to repair alkylated single-stranded DNA and RNA containing 3-methylcytosine 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).
Enzyme Numbers (IUBMB) for ALKBH1 Gene
Phenotypes From GWAS Catalog for ALKBH1 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000049 | tRNA binding | IDA | 27497299 |
| GO:0003824 | catalytic activity | IEA | -- |
| GO:0003906 | DNA-(apurinic or apyrimidinic site) lyase activity | IEA,IDA | 19959401 |
| GO:0008198 | ferrous iron binding | IDA | 18603530 |
| GO:0016491 | oxidoreductase activity | IEA | -- |
Phenotypes for ALKBH1 Gene
- MGI mutant phenotypes for ALKBH1:
- inferred from 3 alleles
- GenomeRNAi human phenotypes for ALKBH1:
Animal Model Products
-
Taconic Biosciences Mouse Models for ALKBH1
- Cyagen custom Knockout/knockin (KOKI) mouse models for ALKBH1
-
-
ViGene Biosciences lentiviral particle packaged cDNA for ALKBH1 gene
-
ViGene Biosciences ready-to-package AAV shRNAs for ALKBH1 gene
- Search ViGene Biosciences for ALKBH1
CRISPR Products
-
OriGene CRISPR knockouts for ALKBH1
- genomics-online: gRNA clones - Search results for available ALKBH gene related products
- Applied Biological Materials CRISPR for ALKBH1
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for ALKBH1
- GenScript: Design CRISPR guide RNA sequences for ALKBH1
miRNA for ALKBH1 Gene
- miRTarBase miRNAs that target ALKBH1
miRNA Products
- Search ViGene Biosciences for ALKBH1
Inhibitory RNA Products
- Origene RNAi, sirna, and shrna products in human, mouse, rat for ALKBH1
- Browse OriGene Inhibitory RNA Products For ALKBH1
- genomics-online: shRNA clones - Search results for available ALKBH gene related products
-
ViGene Biosciences ready-to-package AAV shRNAs for ALKBH1 gene
Clone Products
- Sino Biological Human cDNA Clone for ALKBH1
- VectorBuilder custom plasmid, inducible vectors for ALKBH1
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for ALKBH1
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- genomics-online: cdna clones - Search results for available ALKBH gene related products
- orf clones - Search results for available ALKBH gene related products
- Applied Biological Materials Clones for ALKBH1
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Cell Line Products
-
Horizon Cell Lines for ALKBH1
-
ViGene Biosciences adenoviral particle packaged cDNA for ALKBH1 gene
-
ViGene Biosciences lentiviral particle packaged cDNA for ALKBH1 gene
-
ViGene Biosciences ready-to-package AAV shRNAs for ALKBH1 gene
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}.
| Compartment | Confidence |
|---|---|
| mitochondrion | 5 |
| nucleus | 4 |
| extracellular | 2 |
| plasma membrane | 1 |
| peroxisome | 1 |
| cytosol | 1 |
| lysosome | 1 |
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005634 | nucleus | IEA | -- |
| GO:0005719 | nuclear euchromatin | IBA,IEA | -- |
| GO:0005739 | mitochondrion | IEA,IDA | 18603530 |
No data available for Subcellular locations from the Human Protein Atlas (HPA) for ALKBH1 Gene
Pathways & Interactions for ALKBH1 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Integrated Breast Cancer Pathway | ||
Pathways by source for ALKBH1 Gene
1 BioSystems pathway for ALKBH1 Gene
Interacting Proteins 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 |
No data available for SIGNOR curated interactions for ALKBH1 Gene
Drugs & Compounds for ALKBH1 Gene
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
|---|---|---|---|---|---|---|
| Oxoglutaric acid |
|
328-50-7 |
|
Transcripts for ALKBH1 Gene
mRNA/cDNA for ALKBH1 Gene
- (2) REFSEQ mRNAs :
- (3) Additional mRNA sequences :
- (72) Selected AceView cDNA sequences:
- (4) Ensembl transcripts including schematic representations, and UCSC links where relevant :
Unigene Clusters for ALKBH1 Gene
CRISPR Products
-
OriGene CRISPR knockouts for ALKBH1
- genomics-online: gRNA clones - Search results for available ALKBH gene related products
- Applied Biological Materials CRISPR for ALKBH1
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for ALKBH1
- GenScript: Design CRISPR guide RNA sequences for ALKBH1
miRNA Products
- Search ViGene Biosciences for ALKBH1
Inhibitory RNA Products
- Origene RNAi, sirna, and shrna products in human, mouse, rat for ALKBH1
- Browse OriGene Inhibitory RNA Products For ALKBH1
- genomics-online: shRNA clones - Search results for available ALKBH gene related products
-
ViGene Biosciences ready-to-package AAV shRNAs for ALKBH1 gene
Clone Products
- Sino Biological Human cDNA Clone for ALKBH1
- VectorBuilder custom plasmid, inducible vectors for ALKBH1
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for ALKBH1
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- genomics-online: cdna clones - Search results for available ALKBH gene related products
- orf clones - Search results for available ALKBH gene related products
- Applied Biological Materials Clones for ALKBH1
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
| ExUns: | 1a | · | 1b | · | 1c | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5a | · | 5b | ^ | 6a | · | 6b | · | 6c | · | 6d |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | |||||||||||||||||||||||
| SP2: | - | ||||||||||||||||||||||
| SP3: | - | - | |||||||||||||||||||||
| SP4: | - | - |
Expression 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
- Elite partner
NURSA nuclear receptor signaling pathways regulating expression of ALKBH1 Gene:
ALKBH1SOURCE GeneReport for Unigene cluster for ALKBH1 Gene:
Hs.94542mRNA 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)
Primer Products
-
OriGene qPCR primer pairs for ALKBH1
-
OriGene qPCR primer pairs and template standards for ALKBH1
- genomics-online: primer clones - Search results for available ALKBH gene related products
Gene Expression Assay Products
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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | ALKBH1 34 33 |
|
OneToOne | |
| cow (Bos Taurus) |
Mammalia | ALKBH1 33 34 |
|
||
| dog (Canis familiaris) |
Mammalia | ALKBH1 33 34 |
|
||
| mouse (Mus musculus) |
Mammalia | Alkbh1 33 16 34 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Alkbh1 33 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | ALKBH1 34 |
|
OneToOne | |
| platypus (Ornithorhynchus anatinus) |
Mammalia | ALKBH1 34 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | ALKBH1 33 34 |
|
||
| lizard (Anolis carolinensis) |
Reptilia | ALKBH1 34 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | alkbh1 33 |
|
||
| Str.16044 33 |
|
||||
| African clawed frog (Xenopus laevis) |
Amphibia | Xl.24969 33 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | alkbh1 34 33 |
|
OneToOne | |
| rainbow trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.1823 33 |
|
||
| African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP000155 33 |
|
||
| fruit fly (Drosophila melanogaster) |
Insecta | AlkB 33 34 |
|
||
| worm (Caenorhabditis elegans) |
Secernentea | Y51H7C.5 33 34 |
|
||
| sea squirt (Ciona savignyi) |
Ascidiacea | CSA.10211 34 |
|
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)
Paralogs for ALKBH1 Gene
No data available for Paralogs for ALKBH1 Gene
Variants for ALKBH1 Gene
| SNP ID | Clin | Chr 14 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs1000010125 | -- | 77,692,826(-) | T/A | intron_variant | |
| rs1000080234 | -- | 77,702,947(-) | G/T | intron_variant | |
| rs1000088072 | -- | 77,694,797(-) | G/C | coding_sequence_variant, missense_variant, non_coding_transcript_variant | |
| rs1000248939 | -- | 77,692,647(-) | C/A/T | intron_variant | |
| rs1000454027 | -- | 77,697,658(-) | G/A | intron_variant |
| 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 |
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
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ALKBH1 Gene
Disorders for ALKBH1 Gene
Additional Disease Information for 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
- 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 22 58
- ALKBH1 is a histone H2A dioxygenase involved in neural differentiation. (PMID: 22961808) Ougland R … Larsen E (Stem cells (Dayton, Ohio) 2012) 2 3 4 58
- Human AlkB homologue 1 (ABH1) exhibits DNA lyase activity at abasic sites. (PMID: 19959401) Müller TA … Hausinger RP (DNA repair 2010) 3 4 22 58
- NSUN3 and ABH1 modify the wobble position of mt-tRNAMet to expand codon recognition in mitochondrial translation. (PMID: 27497299) Haag S … Bohnsack MT (The EMBO journal 2016) 3 4 58
- ALKBH1-Mediated tRNA Demethylation Regulates Translation. (PMID: 27745969) Liu F … He C (Cell 2016) 3 4 58
Products for ALKBH1 Gene
- Browse R&D Systems for Antibodies
- Browse R&D Systems for Human Recombinant Proteins
- Browse R&D Systems for biochemical assays
- Browse Human Proteins and Enzymes
- Browse Primary Antibodies
- Browse Proteins and Enzymes
- Browse ELISAs
- Browse Activity Assays
- Browse cDNA Clones
- Browse Cell Culture Products
- Browse Cell Selection and Detection Kits
- Browse DNA Damage and Repair Kits
- Browse ELISpot/FluoroSpot Kits and Development Modules
- Browse Flow Cytometry Kits
- Browse Immunoprecipitation Assays
- Browse Luminex Assays
- Browse Peptides
- Browse Proteome Profiler Antibody Arrays
- Browse Small Molecules
- Custom Antibody ServicesOriGene Antibodies for ALKBH1
- Browse OriGene ELISA Kits
- Custom Assay Services
- OriGene Purified Proteins for ALKBH1
- Search Origene for MassSpec and Protein Over-expression Lysates for ALKBH1
- Origene Custom Protein Services for ALKBH1
- Origene shrna, sirna, and RNAi products in human, mouse, rat for ALKBH1
- Browse OriGene Inhibitory RNA Products For ALKBH1
- OriGene qPCR primer pairs and template standards for ALKBH1
- OriGene qPCR primer pairs for ALKBH1
- OriGene CRISPR knockouts for ALKBH1
- OriGene ORF clones in human for ALKBH1
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Browse OriGene miRNA Products For ALKBH1
- GenScript: Next-day shipping of latest version cDNA ORF clones for ALKBH1 in any vector
- GenScript Custom Purified and Recombinant Proteins Services for ALKBH1
- GenScript Custom Assay Services for ALKBH1
- GenScript Custom overexpressing Cell Line Services for ALKBH1
- GenScript: Design CRISPR guide RNA sequences for ALKBH1
- Design optimal peptide antigens
- CloneReady with Over 120,000 Genes
- Gene Synthesis: Any Gene in Any Vector
- Vector-based siRNA and miRNA, Ready for Transfection
- Gene Mutant Library, Variants up to 10^11
- Plasmid Preparation
- GenScript Custom Peptide Services for ALKBH1
- Sino Biological Human cDNA Clone for ALKBH1
- Browse Sino Biological Cell Lysates
- Browse Sino Biological Recombinant Proteins
- Browse Sino Biological Antibodies
- Browse Sino Biological Assays
- Browse Sino Biological ELISA Kits
- Browse Sino Biological ELISA Pair Sets
- Browse Sino Biological CRO Services
- Browse Sino Biological Control Vectors
- Sino Biological Transfection Reagent
- Sino Biological Anti-His Tag Antibody
- Novus Biologicals Antibodies for ALKBH1
- Novus Biologicals lysates and proteins for ALKBH1
- Novus Biologicals
- Novus Biologicals Tissue Microarrays
- Browse Antibodies
- Browse Peptides and Proteins
- Browse Lysates
- Browse ELISA Kits
- Abcam antibodies for ALKBH1
- Abcam proteins for ALKBH1
- Find your target
- Browse Primary Antibodies
- Browse Conjugated Primary Antibodies
- Browse Secondary Antibodies
- Browse ELISA Kits
- Browse Matched Antibody Pairs
- Browse Proteins and Peptides
- Search Knockout (KO) Validated Antibodies
- Browse Monoclonal Antibodies
- Browse Recombinant Antibodies
- Browse Antibodies at Cloud-Clone Corp.
- Browse Proteins at Cloud-Clone Corp.
- Browse Assay Kits at Cloud-Clone Corp.
- Browse Knockouts at Cloud-Clone Corp.
- Browse Knockins at Cloud-Clone Corp.
- Cloud-Clone Corp. disease models service
- Browse cDNA clones at Cloud-Clone Corp.
- Browse primers at Cloud-Clone Corp.
- Cloud-Clone Corp. primary cells service
- Taconic Biosciences Mouse Models for ALKBH1
- Find your next knockout model in the Taconic Knockout Repository
- Genetically Engineered Models Available Immediately
- Humanized Mice
- Invitrogen Antibodies for ALKBH1
- Cyagen custom Knockout/knockin (KOKI) mouse models for ALKBH1
- VectorBuilder custom plasmid, inducible vectors for ALKBH1
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for ALKBH1
- VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- antibodies-online: Search results for 53 available ALKBH Antibodies ranked by validation data
- Compare Top ALKBH Antibodies
- antibodies-online: Search results for available ALKBH related products ranked by validation data
- antibodies-online: Search results for 5 available ALKBH Proteins ranked by validation data
- Compare Top ALKBH Proteins
- GeneTex ALKBH1 antibody for ALKBH1
- Search GeneTex for Proteins for ALKBH1
- ViGene Biosciences adenoviral particle packaged cDNA for ALKBH1 gene
- ViGene Biosciences lentiviral particle packaged cDNA for ALKBH1 gene
- ViGene Biosciences ready-to-package AAV shRNAs for ALKBH1 gene
- Search ViGene Biosciences for ALKBH1
- Santa Cruz Biotechnology (SCBT) Antibodies for ALKBH1
- Search Santa Cruz Biotechnology (SCBT) for ALKBH1 siRNA/shRNA
- Santa Cruz Biotechnology (SCBT) CRISPR for ALKBH1
- Horizon Cell Lines for ALKBH1
- genomics-online: cdna clones - Search results for available ALKBH gene related products
- orf clones - Search results for available ALKBH gene related products
- genomics-online: gRNA clones - Search results for available ALKBH gene related products
- genomics-online: primer clones - Search results for available ALKBH gene related products
- genomics-online: shRNA clones - Search results for available ALKBH gene related products
Sources for ALKBH1 Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) GO
- (12) TrEMBL
- (13) InterPro
- (14) ProtoNet
- (15) Blocks
- (16) MGI
- (17) IUBMB
- (18) KEGG
- (19) MINT
- (20) STRING
- (21) IntAct
- (22) Novoseek
- (23) PharmGKB
- (24) DrugBank
- (25) HMDB
- (26) UniGene
- (27) AceView
- (28) ASD
- (29) ECgene
- (30) GeneAnnot
- (31) CGAP SAGE
- (32) SOURCE
- (33) HomoloGene
- (34) PanEnsembl
- (35) euGenes
- (36) SGD
- (37) FlyBase
- (38) WormBase
- (39) Pseudogene
- (40) DGV
- (41) dbSNP
- (42) GenAtlas
- (43) HGMD
- (44) GAD
- (45) BGMUT
- (46) HuGE
- (47) Atlas
- (48) Cell Signaling Technology
- (49) GenBank
- (50) H-invDB
- (51) HORDE
- (52) HUGE
- (53) IMGT
- (54) Leiden
- (55) miRBase
- (56) DME
- (57) OriGene
- (58) PubMed
- (59) R&D Systems
- (60) TGDB
- (61) Tocris
- (62) Abcam
- (63) Novus Biologicals
- (64) ProSpec
- (65) Sino Biological
- (66) GenScript
- (67) Qiagen
- (68) Cloud-Clone Corp.
- (69) OCA
- (70) Proteopedia
- (71) MOPED
- (72) neXtProt
- (73) Reactome
- (74) GeneGo (Thomson Reuters)
- (75) fRNAdb
- (76) DISEASES
- (77) SIMAP
- (78) GenomeRNAi
- (79) LifeMap
- (80) miRTarBase
- (81) MalaCards
- (82) Invitrogen
- (83) BitterDB
- (84) Vector BioLabs
- (85) ESI-BIO
- (86) RefSeq
- (87) BioSystems
- (88) MaxQB
- (89) IUPHAR
- (90) BioGPS
- (91) Illumina
- (92) COMPARTMENTS
- (93) HOMER
- (94) PaxDb
- (95) ApexBio
- (96) Addgene
- (97) antibodies-online
- (98) CYP
- (99) NONCODE
- (100) SwitchGear Genomics
- (101) TreeFam
- (102) PathCards
- (103) GeneReviews
- (104) GeneTex
- (105) Taconic Biosciences
- (106) GTEx
- (107) ProteomicsDB
- (108) SCBT
- (109) DGIdb
- (110) ClinicalTrials
- (111) FDA Approved Drugs
- (112) RVIS
- (113) SIGNOR
- (114) diseasecard
- (115) NIH Rare Diseases
- (116) Orphanet
- (117) UMLS
- (118) GTR
- (119) Disease Ontology
- (120) Genetics Home Reference
- (121) MeSH
- (122) MedlinePlus
- (123) CDC
- (124) NINDS
- (125) NCBI Bookshelf
- (126) ClinVar
- (127) Gene Damage Index
- (128) ViGene Biosciences
- (129) HPO
- (130) UDN
- (131) VISTA
- (132) FANTOM5
- (133) ENCODE
- (134) ProSci
- (135) Horizon
- (136) NURSA
- (137) IID
- (138) Cyagen
- (139) VectorBuilder
- (140) SNPedia
- (141) BRCA Exchange
- (142) St John's Lab
- (143) CIViC
- (144) ProteoGenix
- (145) dbSUPER
- (146) TISSUES
- (147) Gene ORGANizer
- (148) abm
- (149) CrownBio
- (150) Human Protein Atlas
- (151) GWAS Catalog
- (152) Monarch Initiative
- (153) DataMed
- (154) HumanCyc
- (155) genomics-online
- (156) UCNEbase
- (157) EPDnew
- (158) Applied Biosystems