Gene Gene information from NCBI Gene database.
Entrez ID 8846
Gene name AlkB homolog 1, histone H2A dioxygenase
Gene symbol ALKBH1
Synonyms (NCBI Gene)
ABHABH1ALKBHalkBhABH
Chromosome 14
Chromosome location 14q24.3
Summary 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-methyl
miRNA miRNA information provided by mirtarbase database.
170
miRTarBase ID miRNA Experiments Reference
MIRT027676 hsa-miR-98-5p Microarray 19088304
MIRT778713 hsa-miR-1286 CLIP-seq
MIRT778714 hsa-miR-2278 CLIP-seq
MIRT778715 hsa-miR-3065-5p CLIP-seq
MIRT778716 hsa-miR-3150b-3p CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
52
GO ID Ontology Definition Evidence Reference
GO:0000049 Function TRNA binding IDA 27497299
GO:0000791 Component Euchromatin IEA
GO:0001701 Process In utero embryonic development IEA
GO:0001764 Process Neuron migration IEA
GO:0001890 Process Placenta development IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
605345 17911 ENSG00000100601
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q13686
Protein name Nucleic acid dioxygenase ALKBH1 (EC 1.14.11.-) (Alkylated DNA repair protein alkB homolog 1) (Alpha-ketoglutarate-dependent dioxygenase ABH1) (DNA 6mA demethylase) (DNA N6-methyl adenine demethylase ALKBH1) (EC 1.14.11.51) (DNA lyase ABH1) (EC 4.2.99.18)
Protein function Dioxygenase that acts on nucleic acids, such as DNA and tRNA (PubMed:18603530, PubMed:27497299, PubMed:27745969). Requires molecular oxygen, alpha-ketoglutarate and iron (PubMed:18603530, PubMed:27497299). A number of activities have been descri
PDB 6IE2 , 6IE3 , 8K62
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF13532 2OG-FeII_Oxy_2 98 344 2OG-Fe(II) oxygenase superfamily Domain
Tissue specificity TISSUE SPECIFICITY: Ubiquitous. {ECO:0000269|PubMed:17979886, ECO:0000269|PubMed:18603530}.
Sequence
Sequence length 389
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
1
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
COLOR VISION DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Arteriosclerosis Arteriosclerosis BEFREE 31797919
★☆☆☆☆
Found in Text Mining only
Atherosclerosis Atherosclerosis BEFREE 31797919
★☆☆☆☆
Found in Text Mining only
Autoimmune Diseases Autoimmune Diseases BEFREE 27925187
★☆☆☆☆
Found in Text Mining only
Bile Duct Diseases Bile duct disease Pubtator 8342994 Associate
★☆☆☆☆
Found in Text Mining only
Bladder Neoplasm Bladder Neoplasm BEFREE 7591228
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 12029441, 35980268 Associate
★☆☆☆☆
Found in Text Mining only
Carcinogenesis Carcinogenesis Pubtator 35980268 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma Carcinoma BEFREE 2497072
★☆☆☆☆
Found in Text Mining only
Carcinoma Hepatocellular Hepatocellular carcinoma Pubtator 35032618 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma of bladder Bladder carcinoma BEFREE 23279696, 6848204, 7591228
★☆☆☆☆
Found in Text Mining only