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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
- ABH 2 3 4
- 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
- AlkB 2 3
- HABH 2 3
- 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
- ALKBH1 5
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. Diseases associated with ALKBH1 include Salivary Gland Carcinoma and Familial Isolated Hypoparathyroidism. 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
- HGNC(17911)
- Entrez Gene(8846)
- Ensembl(ENSG00000100601)
- OMIM(605345)
- UniProtKB(Q13686)
- Open Targets Platform(ENSG00000100601)
- Search for ALKBH1 at DataMed
- Search for ALKBH1 at HumanCyc
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 Pubs
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 the GeneHancer Hub at the UCSC Golden Path
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
- chr14:77,672,404-77,708,038
- (GRCh38/hg38)
- Size:
- 35,635 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:
-
- 14q24.3 by HGNC
- 14q24.3 by Entrez Gene
- 14q24.3 by Ensembl
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; 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
- Novus Biologicals Antibodies for ALKBH1
-
Abcam antibodies for ALKBH1
- Invitrogen Antibodies for ALKBH1 (AFLGC-ALKBH1)
-
Boster Bio Antibodies for ALKBH1
-
Santa Cruz Biotechnology (SCBT) Antibodies for ALKBH1
- Sino Biological 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
-
Signalway Proteins for ALKBH1
-
Abcam proteins for ALKBH1
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
- InterPro:
- ProtoNet:
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- Family:
-
- Belongs to the alkB family.
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={ECO:0000305|PubMed:19959401};.
- 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={ECO:0000305|PubMed:18603530};.
- 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={ECO:0000269|PubMed:30017583};.
- 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={ECO:0000269|PubMed:27745969};.
- 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={ECO:0000269|PubMed:27497299};.
- 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={ECO:0000269|PubMed:31188562};.
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: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 |
Phenotypes for ALKBH1 Gene
- MGI mutant phenotypes for ALKBH1:
-
inferred from 4 alleles
- nervous system phenotype
- immune system phenotype
- cardiovascular system phenotype
- cellular phenotype
- behavior/neurological phenotype
- mortality/aging
- growth/size/body region phenotype
- renal/urinary system phenotype
- endocrine/exocrine gland phenotype
- reproductive system phenotype
- vision/eye phenotype
- limbs/digits/tail phenotype
- skeleton phenotype
- hematopoietic system phenotype
- embryo phenotype
- craniofacial phenotype
- GenomeRNAi human phenotypes for ALKBH1:
Animal Models for ALKBH1 Gene
Animal Model Products
-
Taconic Biosciences Mouse Models for ALKBH1
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for ALKBH1 - Select products 50% OFF >
- * ALKBH1 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for ALKBH1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for ALKBH1
-
Santa Cruz Biotechnology (SCBT) CRISPR for ALKBH1
miRNA for ALKBH1 Gene
- miRTarBase miRNAs that target ALKBH1
-
- hsa-miR-98-5p (MIRT027676)
- mmu-miR-3473c (MIRT577085)
- mmu-miR-343 (MIRT577154)
- mmu-miR-1942 (MIRT579386)
- mmu-miR-466o-5p (MIRT579387)
- mmu-miR-466b-5p (MIRT579388)
- mmu-miR-466c-5p (MIRT579389)
- mmu-miR-511-3p (MIRT579390)
- mmu-miR-297b-5p (MIRT579391)
- mmu-miR-297a-5p (MIRT579392)
- mmu-miR-297c-5p (MIRT579393)
- mmu-miR-467f (MIRT579394)
- mmu-miR-466f-3p (MIRT579395)
- mmu-miR-329-3p (MIRT579396)
- mmu-miR-362-3p (MIRT579397)
- mmu-miR-466i-3p (MIRT579398)
- hsa-miR-1972 (MIRT738662)
- hsa-miR-3653-5p (MIRT741909)
- hsa-miR-378a-5p (MIRT742743)
- hsa-miR-4650-5p (MIRT746511)
- hsa-miR-4743-5p (MIRT748148)
- hsa-miR-5587-5p (MIRT751006)
- hsa-miR-6801-5p (MIRT756367)
- mmu-miR-466q (MIRT791502)
- mmu-miR-669c-3p (MIRT791806)
- mmu-miR-6908-3p (MIRT791959)
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for ALKBH1
- Browse OriGene Inhibitory RNA Products For ALKBH1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ALKBH1
Clone Products
- Applied Biological Materials (abm): Clones for ALKBH1 - Select products 50% OFF >
- * ALKBH1 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Sino Biological Human cDNA Clone for ALKBH1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for ALKBH1
Cell Line Products
-
Horizon Cell Lines for 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
- Nucleus. Mitochondrion. Note=Mainly localizes in euchromatin, largely excluded from heterochromatin and nucleoli (By similarity). {ECO:0000250 UniProtKB:P0CB42}.
| 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 |
- Nucleoplasm (3)
- Endoplasmic reticulum (1)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005634 | nucleus | IEA | -- |
| GO:0005654 | nucleoplasm | IDA | -- |
| GO:0005719 | nuclear euchromatin | IEA,IBA | 21873635 |
| GO:0005739 | mitochondrion | IBA,IDA | 18603530 |
| GO:0005783 | endoplasmic reticulum | IDA | -- |
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
| Symbol | External ID(s) | Details |
|---|---|---|
| DNAJB6 | ||
| ATP5MF-PTCD1 | ||
| DNAJB13 | ||
| GTF2H3 | ||
| LIG1 |
GPS-Prot Interaction Network for ALKBH1
| 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 | IEA,IDA | 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 |
|---|
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 :
-
- ENST00000216489 2597 nts (view in UCSC)
- ENST00000557057 1750 nts (view in UCSC)
- ENST00000555100 649 nts (view in UCSC)
- ENST00000554097 497 nts (view in UCSC)
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for ALKBH1 - Select products 50% OFF >
- * ALKBH1 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for ALKBH1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for ALKBH1
-
Santa Cruz Biotechnology (SCBT) CRISPR for ALKBH1
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for ALKBH1
- Browse OriGene Inhibitory RNA Products For ALKBH1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ALKBH1
Clone Products
- Applied Biological Materials (abm): Clones for ALKBH1 - Select products 50% OFF >
- * ALKBH1 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Sino Biological Human cDNA Clone for ALKBH1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for ALKBH1
| 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
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
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ALKBH1
SOURCE 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(4.4)
- Nervous system(2.5)
- Kidney(2.3)
- Intestine(2.2)
- Skin(2.2)
- Muscle(2.2)
Primer Products
-
OriGene qPCR primer pairs for ALKBH1
-
OriGene qPCR primer pairs and template standards for ALKBH1
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 30 31 |
|
OneToOne | |
| Cow (Bos Taurus) |
Mammalia | ALKBH1 30 31 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | ALKBH1 30 31 |
|
OneToOne | |
| Mouse (Mus musculus) |
Mammalia | Alkbh1 30 17 31 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Alkbh1 30 |
|
||
| Oppossum (Monodelphis domestica) |
Mammalia | ALKBH1 31 |
|
OneToOne | |
| Platypus (Ornithorhynchus anatinus) |
Mammalia | ALKBH1 31 |
|
OneToOne | |
| Chicken (Gallus gallus) |
Aves | ALKBH1 30 31 |
|
OneToOne | |
| Lizard (Anolis carolinensis) |
Reptilia | ALKBH1 31 |
|
OneToOne | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | alkbh1 30 |
|
||
| Str.16044 30 |
|
||||
| African clawed frog (Xenopus laevis) |
Amphibia | Xl.24969 30 |
|
||
| Zebrafish (Danio rerio) |
Actinopterygii | alkbh1 30 31 |
|
OneToOne | |
| Rainbow Trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.1823 30 |
|
||
| African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP000155 30 |
|
||
| Fruit Fly (Drosophila melanogaster) |
Insecta | AlkB 30 31 |
|
OneToOne | |
| Worm (Caenorhabditis elegans) |
Secernentea | Y51H7C.5 30 31 |
|
OneToOne | |
| Sea Squirt (Ciona savignyi) |
Ascidiacea | CSA.10211 31 |
|
OneToOne |
- Species where no ortholog for ALKBH1 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Eremothecium 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 Vase (Ciona intestinalis)
- 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 |
| 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
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| salivary gland carcinoma |
|
|
| familial isolated hypoparathyroidism |
|
|
| salivary gland disease |
|
|
| xeroderma pigmentosum, variant type |
|
|
| wilms tumor 1 |
|
|
Search ALKBH1 in MalaCards
View complete list of genes associated with diseases
Additional Disease Information for ALKBH1
No data available for 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 23
- ALKBH1 is a histone H2A dioxygenase involved in neural differentiation. (PMID: 22961808) Ougland R … Larsen E (Stem cells (Dayton, Ohio) 2012) 2 3 4
- Human AlkB homologue 1 (ABH1) exhibits DNA lyase activity at abasic sites. (PMID: 19959401) Müller TA … Hausinger RP (DNA repair 2010) 3 4 23
- AlkB Homologue 1 Demethylates N3-Methylcytidine in mRNA of Mammals. (PMID: 31188562) Ma CJ … Feng YQ (ACS chemical biology 2019) 3 4
- N6-Methyladenine DNA Modification in the Human Genome. (PMID: 30017583) Xiao CL … Yan GR (Molecular cell 2018) 3 4
ExternalLinks
Products for ALKBH1 Gene
- Custom Antibody ServicesOriGene Antibodies for ALKBH1
- Browse OriGene ELISA Kits
- Custom Assay Services
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- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
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- Novus Biologicals proteins and lysates for ALKBH1
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- 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 (AFLGC-ALKBH1)
- VectorBuilder Custom and pre-made DNA vectors for ALKBH1 (ie. gene expression, shRNA knockdown, CRISPR)
- VectorBuilder Viral vectors for ALKBH1 (ie. lentivirus, AAV, adenovirus)
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- VectorBuilder Stable cell line generation for ALKBH1
- antibodies-online: Show 14 available ALKBH Antibodies ranked by validation data
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- antibodies-online: Search results for available ALKBH related products ranked by validation data
- antibodies-online: Show 5 available ALKBH Proteins ranked by validation data
- Compare Top ALKBH Proteins
- Santa Cruz Biotechnology (SCBT) Antibodies for ALKBH1
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- Santa Cruz Biotechnology (SCBT) CRISPR for ALKBH1
- Horizon Cell Lines for ALKBH1
- Browse GeneCopoeia Cell Lines
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for ALKBH1
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- Boster Bio Antibodies for ALKBH1
- Browse Boster Bio ELISA Kits
- Signalway Proteins for ALKBH1
Sources for ALKBH1 Gene
- (1) GeneCards
- (2) HGNC
- (3) NCBI Entrez Gene
- (4) UniProtKB/Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) Cell Signaling Technology
- (12) GO
- (13) UniProtKB/TrEMBL
- (14) InterPro
- (15) ProtoNet
- (16) Blocks
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- (22) IntAct
- (23) Novoseek
- (24) PharmGKB
- (25) DrugBank
- (26) HMDB
- (27) ASD
- (28) SAGE
- (29) SOURCE
- (30) HomoloGene
- (31) PanEnsembl
- (32) euGenes
- (33) SGD
- (34) FlyBase
- (35) WormBase
- (36) Pseudogene
- (37) DGV
- (38) dbSNP
- (39) GenAtlas
- (40) HGMD
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- (43) HuGE
- (44) Atlas
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- (46) HORDE
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- (48) IMGT
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- (50) miRBase
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- (53) PubMed
- (54) R&D Systems
- (55) TGDB
- (56) Tocris
- (57) Abcam
- (58) Novus Biologicals
- (59) ProSpec
- (60) Sino Biological
- (61) GenScript
- (62) Qiagen
- (63) OCA
- (64) Proteopedia
- (65) MOPED
- (66) neXtProt
- (67) Reactome
- (68) GeneGo (Thomson Reuters)
- (69) DISEASES
- (70) SIMAP
- (71) GenomeRNAi
- (72) LifeMap
- (73) miRTarBase
- (74) MalaCards
- (75) Invitrogen
- (76) BitterDB
- (77) ESI-BIO
- (78) RefSeq
- (79) BioSystems
- (80) MaxQB
- (81) IUPHAR
- (82) BioGPS
- (83) Illumina
- (84) COMPARTMENTS
- (85) HOMER
- (86) PaxDb
- (87) ApexBio
- (88) Addgene
- (89) antibodies-online
- (90) CYP
- (91) NONCODE
- (92) TreeFam
- (93) PathCards
- (94) GeneReviews
- (95) GeneTex
- (96) Taconic Biosciences
- (97) GTEx
- (98) ProteomicsDB
- (99) SCBT
- (100) DGIdb
- (101) ClinicalTrials
- (102) RVIS
- (103) SIGNOR
- (104) diseasecard
- (105) NIH Rare Diseases
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- (110) Genetics Home Reference
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- (115) NCBI Bookshelf
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- (134) Gene ORGANizer
- (135) abm
- (136) Human Protein Atlas
- (137) GWAS Catalog
- (138) Monarch Initiative
- (139) DataMed
- (140) HumanCyc
- (141) UCNEbase
- (142) EPDnew
- (143) Applied Biosystems
- (144) GlyConnect
- (145) Aminode
- (146) GeneCopoeia
- (147) GPS-Prot
- (148) RNACentral
- (149) LncRNADisease
- (150) LOVD
- (151) miR2Disease
- (152) DiseaseEnhancer
- (153) Boster Bio
- (154) Biorbyt
- (155) Biocompare
- (156) Mastermind
- (157) CTD^2 Dashboard
- (158) CraniofacialAtlas
- (159) GeneImprint
- (160) Synthego
- (161) ENA
- (162) GtRNAdb
- (163) LncBase
- (164) LncBook
- (165) LNCipedia
- (166) Modomics
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- (175) Open Targets Platform
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- (177) snoDB
- (178) MirGeneDB