ALKBH7 alkB homolog 7 [Homo sapiens (human)] - Gene

Summary

Official Symbol: ALKBH7provided by HGNC
Official Full Name: alkB homolog 7provided by HGNC
Primary source: HGNC:HGNC:21306
See related: Ensembl:ENSG00000125652 MIM:613305; AllianceGenome:HGNC:21306
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: ABH7; SPATA11; UNQ6002
Summary: Predicted to enable dioxygenase activity and metal ion binding activity. Involved in DNA damage response and regulation of mitochondrial membrane permeability involved in programmed necrotic cell death. Located in mitochondrial matrix. [provided by Alliance of Genome Resources, Oct 2024]
Expression: Broad expression in testis (RPKM 38.0), kidney (RPKM 14.9) and 24 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 19p13.3

Exon count:: 5

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	19	NC_000019.10 (6372794..6375250)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	19	NC_060943.1 (6361696..6364152)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	19	NC_000019.9 (6372805..6375261)

Chromosome 19 - NC_000019.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues 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?

Transformed astrocytes confer temozolomide resistance on glioblastoma via delivering ALKBH7 to enhance APNG expression after educating by glioblastoma stem cells-derived exosomes.
Title: Transformed astrocytes confer temozolomide resistance on glioblastoma via delivering ALKBH7 to enhance APNG expression after educating by glioblastoma stem cells-derived exosomes.
ALKBH7-mediated demethylation regulates mitochondrial polycistronic RNA processing.
Title: ALKBH7-mediated demethylation regulates mitochondrial polycistronic RNA processing.
Our results uncovered a SNP of ALKBH7, rs7540, which is associated with prostate cancer disease in a statistically significantly manner in two separate cohorts, and maintained in African American men.
Title: ALKBH7 Variant Related to Prostate Cancer Exhibits Altered Substrate Binding.
ALKBH7 possesses the conserved double-stranded beta-helix fold that coordinates a catalytically active iron by a conserved HX(D/E) em leader Xn em leader H motif.
Title: The atomic resolution structure of human AlkB homolog 7 (ALKBH7), a key protein for programmed necrosis and fat metabolism.
novel role for a AlkB homolog, human ALKBH7, in programmed necrosis, presenting a new target for therapeutic intervention in cancer cells that are resistant to apoptotic cell death
Title: Human ALKBH7 is required for alkylation and oxidation-induced programmed necrosis.

Submit: New GeneRIF Correction

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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Markers

RH65607 (e-PCR)
- UniSTS:53425

RH93760 (e-PCR)
- UniSTS:89032

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables dioxygenase activity	IEA Inferred from Electronic Annotation more info
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in DNA damage response	IDA Inferred from Direct Assay more info	PubMed
involved_in fatty acid metabolic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in fatty acid metabolic process	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of lipid storage	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of mitochondrial membrane permeability involved in programmed necrotic cell death	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
is_active_in mitochondrial matrix	IBA Inferred from Biological aspect of Ancestor more info
located_in mitochondrial matrix	IDA Inferred from Direct Assay more info	PubMed
located_in mitochondrion	HTP more info	PubMed
located_in mitochondrion	IDA Inferred from Direct Assay more info

General protein information

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Preferred Names: alpha-ketoglutarate-dependent dioxygenase alkB homolog 7, mitochondrial

Names: alkB, alkylation repair homolog 7; alkylated DNA repair protein alkB homolog 7; probable alpha-ketoglutarate-dependent dioxygenase ABH7; spermatogenesis associated 11; spermatogenesis cell proliferation related protein; spermatogenesis-associated protein 11

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.

mRNA and Protein(s)

NM_032306.4 → NP_115682.1 alpha-ketoglutarate-dependent dioxygenase alkB homolog 7, mitochondrial precursor

See identical proteins and their annotated locations for NP_115682.1

Status: VALIDATED

Source sequence(s)

AY358858, BM271861

Consensus CDS

CCDS12163.1

UniProtKB/Swiss-Prot

B2R4U9, Q53FF3, Q9BT30

Related

ENSP00000245812.2, ENST00000245812.8

Conserved Domains (1) summary

cl21496
Location:28 → 200

2OG-FeII_Oxy; 2OG-Fe(II) oxygenase superfamily

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000019.10 Reference GRCh38.p14 Primary Assembly

Range

6372794..6375250

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_005259658.5 → XP_005259715.1 alpha-ketoglutarate-dependent dioxygenase alkB homolog 7, mitochondrial isoform X1

See identical proteins and their annotated locations for XP_005259715.1

Conserved Domains (1) summary

cl21496
Location:92 → 174

2OG-FeII_Oxy; 2OG-Fe(II) oxygenase superfamily