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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]
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.
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 |
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 | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Integrated Breast Cancer Pathway |
Symbol | External ID(s) | Details |
---|---|---|
DNAJB6 | ||
ATP5MF-PTCD1 | ||
DNAJB13 | ||
GTF2H3 | ||
LIG1 |
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 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs |
---|
ExUns: | 1a | · | 1b | · | 1c | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5a | · | 5b | ^ | 6a | · | 6b | · | 6c | · | 6d |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | |||||||||||||||||||||||
SP2: | - | ||||||||||||||||||||||
SP3: | - | - | |||||||||||||||||||||
SP4: | - | - |
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 |
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 |
Disorder | Aliases | PubMed IDs |
---|---|---|
salivary gland carcinoma |
|
|
familial isolated hypoparathyroidism |
|
|
salivary gland disease |
|
|
xeroderma pigmentosum, variant type |
|
|
wilms tumor 1 |
|
|