ALKBH4 alkB homolog 4, lysine demethylase [Homo sapiens (human)] - Gene

Summary

Official Symbol: ALKBH4provided by HGNC
Official Full Name: alkB homolog 4, lysine demethylaseprovided by HGNC
Primary source: HGNC:HGNC:21900
See related: Ensembl:ENSG00000160993 MIM:613302; AllianceGenome:HGNC:21900
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: ABH4
Summary: Enables 2-oxoglutarate-dependent dioxygenase activity and actin binding activity. Involved in actomyosin structure organization and cleavage furrow ingression. Located in contractile ring and midbody. [provided by Alliance of Genome Resources, Dec 2024]
Expression: Ubiquitous expression in brain (RPKM 3.1), spleen (RPKM 3.0) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 7q22.1

Exon count:: 3

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	7	NC_000007.14 (102456238..102464863, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	7	NC_060931.1 (103773867..103782492, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	7	NC_000007.13 (102096685..102105310, complement)

Chromosome 7 - NC_000007.14 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

ALKBH4 is a novel enzyme that promotes translation through modified uridine regulation.
Title: ALKBH4 is a novel enzyme that promotes translation through modified uridine regulation.
Quantitative proteomics revealed new functions of ALKBH4.
Title: Quantitative proteomics revealed new functions of ALKBH4.
ALKBH4 promotes tumourigenesis with a poor prognosis in non-small-cell lung cancer.
Title: ALKBH4 promotes tumourigenesis with a poor prognosis in non-small-cell lung cancer.
ALKBH4-dependent actin demethylation regulates actomyosin function by promoting actin-non-muscle myosin II interaction.
Title: ALKBH4-dependent demethylation of actin regulates actomyosin dynamics.
The regions mediating binding to ALKBH4 comprised domains previously reported to be involved in interaction with DNA or chromatin.
Title: Human ALKBH4 interacts with proteins associated with transcription.
ALKBH4 represents an active Fe(II)/2OG-dependent decarboxylase and suggest that the cysteine cluster is involved in processes other than Fe co-ordination.
Title: Spectroscopic and magnetic studies of wild-type and mutant forms of the Fe(II)- and 2-oxoglutarate-dependent decarboxylase ALKBH4.

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Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables 2-oxoglutarate-dependent dioxygenase activity	IBA Inferred from Biological aspect of Ancestor more info
enables 2-oxoglutarate-dependent dioxygenase activity	IDA Inferred from Direct Assay more info	PubMed
enables DNA N6-methyladenine demethylase activity	IEA Inferred from Electronic Annotation more info
enables actin binding	IDA Inferred from Direct Assay more info	PubMed
enables broad specificity oxidative DNA demethylase activity	ISS Inferred from Sequence or Structural Similarity more info
enables demethylase activity	IBA Inferred from Biological aspect of Ancestor more info
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein demethylase activity	TAS Traceable Author Statement more info	PubMed

Process	Evidence Code	Pubs
involved_in actomyosin structure organization	IBA Inferred from Biological aspect of Ancestor more info
involved_in actomyosin structure organization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cleavage furrow ingression	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in demethylation	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of gene expression, epigenetic	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
is_active_in contractile ring	IBA Inferred from Biological aspect of Ancestor more info
located_in contractile ring	IDA Inferred from Direct Assay more info	PubMed
located_in cytoplasm	IEA Inferred from Electronic Annotation more info
is_active_in midbody	IBA Inferred from Biological aspect of Ancestor more info
located_in midbody	IDA Inferred from Direct Assay more info	PubMed
located_in nucleolus	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: alpha-ketoglutarate-dependent dioxygenase alkB homolog 4

Names: DNA N6-methyl adenine demethylase ALKBH4; alkB homolog 4, lysine demthylase; alkB, alkylation repair homolog 4; alkylated DNA repair protein alkB homolog 4; lysine-specific demethylase ALKBH4; probable alpha-ketoglutarate-dependent dioxygenase ABH4

NP_060091.1

EC 1.14.11.51

XP_005250521.1

EC 1.14.11.51

XP_054214492.1

EC 1.14.11.51

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.