Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Associated diseases
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

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Show/Hide all (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
MIRT778717	hsa-miR-3174	CLIP-seq
MIRT778718	hsa-miR-323-3p	CLIP-seq
MIRT778719	hsa-miR-339-5p	CLIP-seq
MIRT778720	hsa-miR-3619-3p	CLIP-seq
MIRT778721	hsa-miR-3914	CLIP-seq
MIRT778722	hsa-miR-3921	CLIP-seq
MIRT778723	hsa-miR-4302	CLIP-seq
MIRT778724	hsa-miR-4303	CLIP-seq
MIRT778725	hsa-miR-4421	CLIP-seq
MIRT778726	hsa-miR-4436a	CLIP-seq
MIRT778727	hsa-miR-4436b-3p	CLIP-seq
MIRT778728	hsa-miR-4653-5p	CLIP-seq
MIRT778729	hsa-miR-4668-3p	CLIP-seq
MIRT778730	hsa-miR-4688	CLIP-seq
MIRT778731	hsa-miR-4704-3p	CLIP-seq
MIRT778732	hsa-miR-4729	CLIP-seq
MIRT778733	hsa-miR-4761-3p	CLIP-seq
MIRT778734	hsa-miR-4775	CLIP-seq
MIRT778735	hsa-miR-4784	CLIP-seq
MIRT778736	hsa-miR-4790-3p	CLIP-seq
MIRT778737	hsa-miR-4796-3p	CLIP-seq
MIRT778738	hsa-miR-486-3p	CLIP-seq
MIRT778739	hsa-miR-513c	CLIP-seq
MIRT778740	hsa-miR-514b-5p	CLIP-seq
MIRT778741	hsa-miR-520g	CLIP-seq
MIRT778742	hsa-miR-520h	CLIP-seq
MIRT778743	hsa-miR-590-3p	CLIP-seq
MIRT778744	hsa-miR-591	CLIP-seq
MIRT778745	hsa-miR-593	CLIP-seq
MIRT778746	hsa-miR-617	CLIP-seq
MIRT778747	hsa-miR-670	CLIP-seq
MIRT778748	hsa-miR-942	CLIP-seq
MIRT1929818	hsa-miR-1322	CLIP-seq
MIRT1929819	hsa-miR-1910	CLIP-seq
MIRT1929820	hsa-miR-2392	CLIP-seq
MIRT1929821	hsa-miR-3126-5p	CLIP-seq
MIRT1929822	hsa-miR-3653	CLIP-seq
MIRT1929823	hsa-miR-3658	CLIP-seq
MIRT1929824	hsa-miR-3674	CLIP-seq
MIRT1929825	hsa-miR-3682-3p	CLIP-seq
MIRT1929826	hsa-miR-4419a	CLIP-seq
MIRT1929827	hsa-miR-4423-5p	CLIP-seq
MIRT1929828	hsa-miR-4424	CLIP-seq
MIRT1929829	hsa-miR-4457	CLIP-seq
MIRT1929830	hsa-miR-4510	CLIP-seq
MIRT1929831	hsa-miR-4531	CLIP-seq
MIRT1929832	hsa-miR-4653-3p	CLIP-seq
MIRT1929833	hsa-miR-4676-5p	CLIP-seq
MIRT1929834	hsa-miR-4691-5p	CLIP-seq
MIRT778732	hsa-miR-4729	CLIP-seq
MIRT1929835	hsa-miR-4731-3p	CLIP-seq
MIRT1929836	hsa-miR-4774-3p	CLIP-seq
MIRT1929837	hsa-miR-4801	CLIP-seq
MIRT1929838	hsa-miR-544b	CLIP-seq
MIRT1929839	hsa-miR-575	CLIP-seq
MIRT2170644	hsa-miR-1253	CLIP-seq
MIRT2170645	hsa-miR-1258	CLIP-seq
MIRT2170646	hsa-miR-1265	CLIP-seq
MIRT1929819	hsa-miR-1910	CLIP-seq
MIRT1929820	hsa-miR-2392	CLIP-seq
MIRT778715	hsa-miR-3065-5p	CLIP-seq
MIRT2170647	hsa-miR-3682-5p	CLIP-seq
MIRT778723	hsa-miR-4302	CLIP-seq
MIRT1929829	hsa-miR-4457	CLIP-seq
MIRT2170648	hsa-miR-4520a-5p	CLIP-seq
MIRT2170649	hsa-miR-4520b-5p	CLIP-seq
MIRT2170650	hsa-miR-4670-3p	CLIP-seq
MIRT2170651	hsa-miR-4682	CLIP-seq
MIRT1929834	hsa-miR-4691-5p	CLIP-seq
MIRT2170652	hsa-miR-4709-5p	CLIP-seq
MIRT1929835	hsa-miR-4731-3p	CLIP-seq
MIRT1929837	hsa-miR-4801	CLIP-seq
MIRT2170653	hsa-miR-651	CLIP-seq
MIRT2473227	hsa-let-7a	CLIP-seq
MIRT2473228	hsa-let-7b	CLIP-seq
MIRT2473229	hsa-let-7c	CLIP-seq
MIRT2473230	hsa-let-7d	CLIP-seq
MIRT2473231	hsa-let-7e	CLIP-seq
MIRT2473232	hsa-let-7f	CLIP-seq
MIRT2473233	hsa-let-7g	CLIP-seq
MIRT2473234	hsa-let-7i	CLIP-seq
MIRT2473235	hsa-miR-1183	CLIP-seq
MIRT2473236	hsa-miR-122	CLIP-seq
MIRT2473237	hsa-miR-1321	CLIP-seq
MIRT2473238	hsa-miR-202	CLIP-seq
MIRT2473239	hsa-miR-27a	CLIP-seq
MIRT2473240	hsa-miR-27b	CLIP-seq
MIRT2473241	hsa-miR-299-5p	CLIP-seq
MIRT2473242	hsa-miR-31	CLIP-seq
MIRT2473243	hsa-miR-3123	CLIP-seq
MIRT2473244	hsa-miR-3124-3p	CLIP-seq
MIRT2473245	hsa-miR-3127-3p	CLIP-seq
MIRT2473246	hsa-miR-3163	CLIP-seq
MIRT2473247	hsa-miR-3189-3p	CLIP-seq
MIRT2473248	hsa-miR-3200-5p	CLIP-seq
MIRT778718	hsa-miR-323-3p	CLIP-seq
MIRT2473249	hsa-miR-3668	CLIP-seq
MIRT2473250	hsa-miR-3672	CLIP-seq
MIRT778721	hsa-miR-3914	CLIP-seq
MIRT2473251	hsa-miR-3925-5p	CLIP-seq
MIRT2473252	hsa-miR-3940-5p	CLIP-seq
MIRT2473253	hsa-miR-4263	CLIP-seq
MIRT1929826	hsa-miR-4419a	CLIP-seq
MIRT2473254	hsa-miR-4423-3p	CLIP-seq
MIRT2473255	hsa-miR-4458	CLIP-seq
MIRT2473256	hsa-miR-4500	CLIP-seq
MIRT2473257	hsa-miR-4507	CLIP-seq
MIRT1929830	hsa-miR-4510	CLIP-seq
MIRT2473258	hsa-miR-4534	CLIP-seq
MIRT2473259	hsa-miR-4649-3p	CLIP-seq
MIRT778729	hsa-miR-4668-3p	CLIP-seq
MIRT2473260	hsa-miR-4678	CLIP-seq
MIRT2473261	hsa-miR-4728-5p	CLIP-seq
MIRT2473262	hsa-miR-4732-5p	CLIP-seq
MIRT2473263	hsa-miR-4739	CLIP-seq
MIRT2473264	hsa-miR-4742-3p	CLIP-seq
MIRT2473265	hsa-miR-4756-5p	CLIP-seq
MIRT778734	hsa-miR-4775	CLIP-seq
MIRT2473266	hsa-miR-4799-5p	CLIP-seq
MIRT2473267	hsa-miR-502-5p	CLIP-seq
MIRT2473268	hsa-miR-513a-5p	CLIP-seq
MIRT778739	hsa-miR-513c	CLIP-seq
MIRT778740	hsa-miR-514b-5p	CLIP-seq
MIRT2473269	hsa-miR-576-5p	CLIP-seq
MIRT778743	hsa-miR-590-3p	CLIP-seq
MIRT778744	hsa-miR-591	CLIP-seq
MIRT778746	hsa-miR-617	CLIP-seq
MIRT2473270	hsa-miR-629	CLIP-seq
MIRT2473271	hsa-miR-98	CLIP-seq
MIRT2473235	hsa-miR-1183	CLIP-seq
MIRT2473236	hsa-miR-122	CLIP-seq
MIRT2473237	hsa-miR-1321	CLIP-seq
MIRT2473239	hsa-miR-27a	CLIP-seq
MIRT2473240	hsa-miR-27b	CLIP-seq
MIRT2473241	hsa-miR-299-5p	CLIP-seq
MIRT2473242	hsa-miR-31	CLIP-seq
MIRT2473243	hsa-miR-3123	CLIP-seq
MIRT2473244	hsa-miR-3124-3p	CLIP-seq
MIRT2473245	hsa-miR-3127-3p	CLIP-seq
MIRT2473246	hsa-miR-3163	CLIP-seq
MIRT2473247	hsa-miR-3189-3p	CLIP-seq
MIRT778718	hsa-miR-323-3p	CLIP-seq
MIRT2473249	hsa-miR-3668	CLIP-seq
MIRT2473250	hsa-miR-3672	CLIP-seq
MIRT778721	hsa-miR-3914	CLIP-seq
MIRT2473251	hsa-miR-3925-5p	CLIP-seq
MIRT2473252	hsa-miR-3940-5p	CLIP-seq
MIRT1929826	hsa-miR-4419a	CLIP-seq
MIRT2473254	hsa-miR-4423-3p	CLIP-seq
MIRT2473257	hsa-miR-4507	CLIP-seq
MIRT1929830	hsa-miR-4510	CLIP-seq
MIRT2473258	hsa-miR-4534	CLIP-seq
MIRT778729	hsa-miR-4668-3p	CLIP-seq
MIRT2473261	hsa-miR-4728-5p	CLIP-seq
MIRT2473262	hsa-miR-4732-5p	CLIP-seq
MIRT2473263	hsa-miR-4739	CLIP-seq
MIRT2473264	hsa-miR-4742-3p	CLIP-seq
MIRT2473265	hsa-miR-4756-5p	CLIP-seq
MIRT2473267	hsa-miR-502-5p	CLIP-seq
MIRT2473268	hsa-miR-513a-5p	CLIP-seq
MIRT778739	hsa-miR-513c	CLIP-seq
MIRT778740	hsa-miR-514b-5p	CLIP-seq
MIRT778743	hsa-miR-590-3p	CLIP-seq
MIRT778746	hsa-miR-617	CLIP-seq
MIRT2473270	hsa-miR-629	CLIP-seq

Show/Hide all (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
GO:0002101	Process	TRNA wobble cytosine modification	IDA	27497299
GO:0003824	Function	Catalytic activity	IEA
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005737	Component	Cytoplasm	IBA
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IDA	18603530, 27497299
GO:0005739	Component	Mitochondrion	IEA
GO:0005783	Component	Endoplasmic reticulum	IDA
GO:0006281	Process	DNA repair	IDA	19959401
GO:0006281	Process	DNA repair	IEA
GO:0006417	Process	Regulation of translation	IEA
GO:0006446	Process	Regulation of translational initiation	IMP	27745969
GO:0006448	Process	Regulation of translational elongation	IMP	27745969
GO:0006974	Process	DNA damage response	IEA
GO:0008198	Function	Ferrous iron binding	IBA
GO:0008198	Function	Ferrous iron binding	IDA	18603530
GO:0010468	Process	Regulation of gene expression	IEA
GO:0016491	Function	Oxidoreductase activity	IEA
GO:0016706	Function	2-oxoglutarate-dependent dioxygenase activity	IDA	27497299
GO:0016829	Function	Lyase activity	IEA
GO:0030154	Process	Cell differentiation	IEA
GO:0031175	Process	Neuron projection development	IEA
GO:0035513	Process	Oxidative RNA demethylation	IBA
GO:0035513	Process	Oxidative RNA demethylation	IDA	31188562
GO:0035515	Function	Oxidative RNA demethylase activity	IBA
GO:0035515	Function	Oxidative RNA demethylase activity	IDA	18603530, 31188562
GO:0035516	Function	Broad specificity oxidative DNA demethylase activity	IBA
GO:0035516	Function	Broad specificity oxidative DNA demethylase activity	IDA	18603530, 30017583, 30392959
GO:0035516	Function	Broad specificity oxidative DNA demethylase activity	IEA
GO:0042056	Function	Chemoattractant activity	IEA
GO:0042245	Process	RNA repair	IEA
GO:0043524	Process	Negative regulation of neuron apoptotic process	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0048589	Process	Developmental growth	IEA
GO:0050918	Process	Positive chemotaxis	IEA
GO:0051213	Function	Dioxygenase activity	IEA
GO:0070129	Process	Regulation of mitochondrial translation	IMP	27497299
GO:0140078	Function	Class I DNA-(apurinic or apyrimidinic site) endonuclease activity	IDA	19959401
GO:0140078	Function	Class I DNA-(apurinic or apyrimidinic site) endonuclease activity	IEA
GO:0141131	Function	DNA N6-methyladenine demethylase activity	IEA
GO:0141137	Process	Positive regulation of gene expression, epigenetic	IDA	30017583, 30392959
GO:0141137	Process	Positive regulation of gene expression, epigenetic	IEA
GO:1990983	Process	Regulation of translational initiation by tRNA modification	IDA	27745969
GO:1990983	Process	Regulation of translational initiation by tRNA modification	IEA
GO:1990984	Function	TRNA demethylase activity	IDA	27745969

MIM	HGNC	e!Ensembl
605345	17911	ENSG00000100601

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

MGKMAAAVGSVATLATEPGEDAFRKLFRFYRQSRPGTADLEGVIDFSAAHAARGKGPGAQ
KVIKSQLNVSSVSEQNAYRAGLQPVSKWQAYGLKGYPGFIFIPNPFLPGYQWHWVKQCLK
LYSQKPNVCNLDKHMSKEETQDLWEQSKEFLRYKEATKRRPRSLLEKLRWVTVGYHYNWD
SKKYSADHYTPFPSDLGFLSEQVAAACGFEDFRAEAGILNYYRLDSTLGIHVDRSELDHS
KPLLSFSFGQSAIFLLGGLQRDEAPTAMFMHSGDIMIMSGFSRLLNHAVPRVLPNPEGEG
LPHCLEAPLPAVLPRDSMVEPCSMEDWQVCASYLKTARVNMTVRQVLATDQNFPLEPIED
EKRDISTEGFCHLDDQNSEVKRARINPDS

Sequence length

389

Interactions

View interactions

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)

Show/Hide Unknown Diseases (1)

Phenotype Name	Clinical Significance	Source	Evidence Score
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.
COLOR VISION DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (33)

Disease Name	Relationship Type	References	Evidence Score
Associations from Text MiningDisease associations identified through Pubtator
Bile Duct Diseases	Associate	8342994	★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Associate	12029441, 35980268	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Associate	35980268	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Associate	35032618	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Non Small Cell Lung	Associate	22872573	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Associate	37542141	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Associate	10929759	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Stimulate	36550779	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cysts	Associate	34459484	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Associate	36891946	★★★★★ ★☆☆☆☆ Found in Text Mining only
Head and Neck Neoplasms	Associate	31519943	★★★★★ ★☆☆☆☆ Found in Text Mining only
Helicobacter Infections	Associate	25322664, 33253856	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hematologic Neoplasms	Associate	19274076	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Associate	10929759	★★★★★ ★☆☆☆☆ Found in Text Mining only
Mitochondrial Diseases	Associate	29097205	★★★★★ ★☆☆☆☆ Found in Text Mining only
Mouth Diseases	Associate	22157667	★★★★★ ★☆☆☆☆ Found in Text Mining only
Necrosis	Associate	23666923, 25122757	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasm Metastasis	Associate	20514537, 30637548, 36550779	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Inhibit	10929759, 30637548	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Associate	19274076, 20514537, 23666923, 27015802, 28269980, 31519943, 33744868, 35980268, 36459535	★★★★★ ★☆☆☆☆ Found in Text Mining only
Obesity	Associate	19852088	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ocular Hypertension	Associate	3132201	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Associate	33744868	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Stimulate	34459484	★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Associate	33779693	★★★★★ ★☆☆☆☆ Found in Text Mining only
Peptic Ulcer	Associate	25322664	★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Associate	28231280	★★★★★ ★☆☆☆☆ Found in Text Mining only
Salivary Gland Neoplasms	Associate	36459535	★★★★★ ★☆☆☆☆ Found in Text Mining only
Spherocytosis Hereditary	Associate	9067503	★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Associate	31519943, 35177638	★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Diseases	Associate	33253856	★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Associate	30637548, 32380054	★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Ulcer	Associate	16534856	★★★★★ ★☆☆☆☆ Found in Text Mining only

ALKBH1 (alkB homolog 1, histone H2A dioxygenase)