ALKBH1 (alkB homolog 1, histone H2A dioxygenase)

2012-12-01  

Identity

HGNC
ALKBH1
LOCATION
14q24.3
LOCUSID
8846
ALIAS
ABH,ABH1,ALKBH,alkB,hABH
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 8846
MIM: 605345
HGNC: 17911
Ensembl: ENSG00000100601

Variants:

dbSNP: 8846
ClinVar: 8846
TCGA: ENSG00000100601
COSMIC: ALKBH1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000100601ENST00000216489Q13686
ENSG00000100601ENST00000555100H0YJF3
ENSG00000100601ENST00000557057G3V4M4

Expression (GTEx)

0
5
10
15
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
125945172003Human and bacterial oxidative demethylases repair alkylation damage in both RNA and DNA.204
261527272015The AlkB Family of Fe(II)/α-Ketoglutarate-dependent Dioxygenases: Repairing Nucleic Acid Alkylation Damage and Beyond.68
300175832018N6-Methyladenine DNA Modification in the Human Genome.66
186035302008Human AlkB homolog 1 is a mitochondrial protein that demethylates 3-methylcytosine in DNA and RNA.65
277459692016ALKBH1-Mediated tRNA Demethylation Regulates Translation.60
274972992016NSUN3 and ABH1 modify the wobble position of mt-tRNAMet to expand codon recognition in mitochondrial translation.42
284723122017ALKBH1 is an RNA dioxygenase responsible for cytoplasmic and mitochondrial tRNA modifications.28
199594012010Human AlkB homologue 1 (ABH1) exhibits DNA lyase activity at abasic sites.26
306375482019Expression of Demethylase Genes, FTO and ALKBH1, Is Associated with Prognosis of Gastric Cancer.11
235776212013A covalent protein-DNA 5'-product adduct is generated following AP lyase activity of human ALKBH1 (AlkB homologue 1).8

Citation

Dessen P

ALKBH1 (alkB homolog 1, histone H2A dioxygenase)

Atlas Genet Cytogenet Oncol Haematol. 2012-12-01

Online version: http://atlasgeneticsoncology.org/gene/53071/alkbh1