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Aliases for ALKBH7 Gene

Aliases for ALKBH7 Gene

  • AlkB Homolog 7 2 3 5
  • Alkylated DNA Repair Protein AlkB Homolog 7 3 4
  • Spermatogenesis-Associated Protein 11 3 4
  • Spermatogenesis Associated 11 2 3
  • SPATA11 3 4
  • ABH7 3 4
  • Alpha-Ketoglutarate-Dependent Dioxygenase AlkB Homolog 7, Mitochondrial 3
  • Probable Alpha-Ketoglutarate-Dependent Dioxygenase ABH7 3
  • Spermatogenesis Cell Proliferation Related Protein 3
  • Spermatogenesis Cell Proliferation-Related Protein 4
  • AlkB, Alkylation Repair Homolog 7 (E. Coli) 2
  • AlkB, Alkylation Repair Homolog 7 3
  • EC 1.14.11.- 4
  • UNQ6002 3

External Ids for ALKBH7 Gene

Previous HGNC Symbols for ALKBH7 Gene

  • SPATA11

Previous GeneCards Identifiers for ALKBH7 Gene

  • GC19P006324
  • GC19P006132

Summaries for ALKBH7 Gene

GeneCards Summary for ALKBH7 Gene

ALKBH7 (AlkB Homolog 7) is a Protein Coding gene. Among its related pathways are DNA Damage and Apoptosis and Autophagy. GO annotations related to this gene include dioxygenase activity.

UniProtKB/Swiss-Prot for ALKBH7 Gene

  • May function as protein hydroxylase; can catalyze auto-hydroxylation at Leu-110 (in vitro), but this activity may be due to the absence of the true substrate (PubMed:25122757). Required to induce programmed necrosis in response to DNA damage caused by cytotoxic alkylating agents. Acts by triggering the collapse of mitochondrial membrane potential and loss of mitochondrial function that leads to energy depletion and cell death (PubMed:23666923). ALKBH7-mediated necrosis is probably required to prevent the accumulation of cells with DNA damage (PubMed:23666923). Does not display DNA demethylase activity (PubMed:23666923). Involved in fatty acid metabolism (By similarity).

Additional gene information for ALKBH7 Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ALKBH7 Gene

Genomics for ALKBH7 Gene

Regulatory Elements for ALKBH7 Gene

Enhancers for ALKBH7 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH19H006270 2 FANTOM5 Ensembl ENCODE dbSUPER 18.8 -97.1 -97081 10.7 HDGF PKNOX1 FOXA2 MLX ARNT ARID4B SIN3A DMAP1 ZNF2 YY1 DUS3L ZNF557 KHSRP SNRPEP4 SAFB ENSG00000267571 VMAC ACSBG2 ALKBH7 GPR108
GH19H006733 1.4 ENCODE dbSUPER 18.7 +365.3 365320 8.1 ZFP64 FEZF1 YY1 SLC30A9 ZNF143 SP3 NFYC MEF2D SSRP1 ZNF610 GPR108 KHSRP DUS3L XAB2 ALKBH7 TRIP10 FLJ25758 MBD3L5 MBD3L3 LOC390877
GH19H006587 1.8 FANTOM5 Ensembl ENCODE dbSUPER 10.4 +215.3 215335 1.5 HDGF PKNOX1 ARNT YBX1 ZBTB40 ZNF366 SIRT6 ZNF143 ZNF207 ATF7 DENND1C LOC390877 FLJ25758 MBD3L5 MBD3L3 ACSBG2 ZNF557 ARHGEF18 DUS3L VMAC
GH19H005826 1.7 Ensembl ENCODE dbSUPER 10.3 -544.3 -544295 3.7 HDGF PKNOX1 FOXA2 MLX ARNT ARID4B FEZF1 DMAP1 ZNF2 YY1 DUS3L VMAC ENSG00000267571 NDUFA11 LOC390877 ACSBG2 GPR108 PTPRS PRR22 CATSPERD
GH19H006107 1.7 FANTOM5 ENCODE dbSUPER 10.1 -262.5 -262518 4 HDGF PKNOX1 ARNT ARID4B SIN3A FEZF1 YY1 ZNF766 ZNF143 ZNF207 DUS3L KHSRP SNRPEP4 ZNF557 RANBP3 ALKBH7 SAFB SAFB2 RFX2 ENSG00000267299
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around ALKBH7 on UCSC Golden Path with GeneCards custom track

Promoters for ALKBH7 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000106511 567 1601 HDGF FOXA2 PKNOX1 ARNT ZFP64 SIN3A FEZF1 DMAP1 ZNF2 YY1

Genomic Locations for ALKBH7 Gene

Genomic Locations for ALKBH7 Gene
chr19:6,372,433-6,375,251
(GRCh38/hg38)
Size:
2,819 bases
Orientation:
Plus strand
chr19:6,372,444-6,375,261
(GRCh37/hg19)

Genomic View for ALKBH7 Gene

Genes around ALKBH7 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ALKBH7 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ALKBH7 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ALKBH7 Gene

Proteins for ALKBH7 Gene

  • Protein details for ALKBH7 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9BT30-ALKB7_HUMAN
    Recommended name:
    Alpha-ketoglutarate-dependent dioxygenase alkB homolog 7, mitochondrial
    Protein Accession:
    Q9BT30
    Secondary Accessions:
    • B2R4U9
    • Q53FF3

    Protein attributes for ALKBH7 Gene

    Size:
    221 amino acids
    Molecular mass:
    24516 Da
    Cofactor:
    Name=Fe(2+); Xref=ChEBI:CHEBI:29033;
    Quaternary structure:
    • Monomer.

    Three dimensional structures from OCA and Proteopedia for ALKBH7 Gene

neXtProt entry for ALKBH7 Gene

Post-translational modifications for ALKBH7 Gene

No Post-translational modifications

Other Protein References for ALKBH7 Gene

No data available for DME Specific Peptides for ALKBH7 Gene

Domains & Families for ALKBH7 Gene

Gene Families for ALKBH7 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for ALKBH7 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for ALKBH7 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9BT30

UniProtKB/Swiss-Prot:

ALKB7_HUMAN :
  • Belongs to the alkB family.
Family:
  • Belongs to the alkB family.
genes like me logo Genes that share domains with ALKBH7: view

Function for ALKBH7 Gene

Molecular function for ALKBH7 Gene

UniProtKB/Swiss-Prot Function:
May function as protein hydroxylase; can catalyze auto-hydroxylation at Leu-110 (in vitro), but this activity may be due to the absence of the true substrate (PubMed:25122757). Required to induce programmed necrosis in response to DNA damage caused by cytotoxic alkylating agents. Acts by triggering the collapse of mitochondrial membrane potential and loss of mitochondrial function that leads to energy depletion and cell death (PubMed:23666923). ALKBH7-mediated necrosis is probably required to prevent the accumulation of cells with DNA damage (PubMed:23666923). Does not display DNA demethylase activity (PubMed:23666923). Involved in fatty acid metabolism (By similarity).

Enzyme Numbers (IUBMB) for ALKBH7 Gene

Phenotypes From GWAS Catalog for ALKBH7 Gene

Gene Ontology (GO) - Molecular Function for ALKBH7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016491 oxidoreductase activity IEA --
GO:0046872 metal ion binding IEA --
GO:0051213 dioxygenase activity IEA --
genes like me logo Genes that share ontologies with ALKBH7: view
genes like me logo Genes that share phenotypes with ALKBH7: view

Animal Model Products

Clone Products

No data available for Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for ALKBH7 Gene

Localization for ALKBH7 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ALKBH7 Gene

Mitochondrion matrix.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ALKBH7 gene
Compartment Confidence
mitochondrion 5
extracellular 1
peroxisome 1
nucleus 1
cytosol 1

Gene Ontology (GO) - Cellular Components for ALKBH7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005759 mitochondrial matrix IDA,IEA 23666923
genes like me logo Genes that share ontologies with ALKBH7: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for ALKBH7 Gene

Pathways & Interactions for ALKBH7 Gene

SuperPathways for ALKBH7 Gene

SuperPathway Contained pathways
1 Apoptosis and Autophagy
2 DNA Damage
genes like me logo Genes that share pathways with ALKBH7: view

Pathways by source for ALKBH7 Gene

2 Cell Signaling Technology pathways for ALKBH7 Gene

Interacting Proteins for ALKBH7 Gene

Selected Interacting proteins: Q9BT30-ALKB7_HUMAN for ALKBH7 Gene via IID

Gene Ontology (GO) - Biological Process for ALKBH7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006631 fatty acid metabolic process ISS,IEA --
GO:0006974 cellular response to DNA damage stimulus IDA,IEA 23666923
GO:0010883 regulation of lipid storage ISS,IEA --
GO:0012501 programmed cell death IEA --
GO:0055114 oxidation-reduction process IEA --
genes like me logo Genes that share ontologies with ALKBH7: view

No data available for SIGNOR curated interactions for ALKBH7 Gene

Drugs & Compounds for ALKBH7 Gene

No Compound Related Data Available

Transcripts for ALKBH7 Gene

Unigene Clusters for ALKBH7 Gene

AlkB, alkylation repair homolog 7 (E. coli):
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for ALKBH7 Gene

No ASD Table

Relevant External Links for ALKBH7 Gene

GeneLoc Exon Structure for
ALKBH7
ECgene alternative splicing isoforms for
ALKBH7

Expression for ALKBH7 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for ALKBH7 Gene

mRNA differential expression in normal tissues according to GTEx for ALKBH7 Gene

This gene is overexpressed in Testis (x7.9).

Protein differential expression in normal tissues from HIPED for ALKBH7 Gene

This gene is overexpressed in Heart (18.4), Urine (10.4), and Testis (7.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for ALKBH7 Gene



NURSA nuclear receptor signaling pathways regulating expression of ALKBH7 Gene:

ALKBH7

SOURCE GeneReport for Unigene cluster for ALKBH7 Gene:

Hs.111099

mRNA Expression by UniProt/SwissProt for ALKBH7 Gene:

Q9BT30-ALKB7_HUMAN
Tissue specificity: Widely expressed, with highest expression in pancreas, followed by spleen, prostate, ovary and placenta.

Evidence on tissue expression from TISSUES for ALKBH7 Gene

  • Liver(4.2)
  • Muscle(2.2)
genes like me logo Genes that share expression patterns with ALKBH7: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for ALKBH7 Gene

Orthologs for ALKBH7 Gene

This gene was present in the common ancestor of animals.

Orthologs for ALKBH7 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ALKBH7 33 34
  • 99.7 (n)
dog
(Canis familiaris)
Mammalia ALKBH7 33 34
  • 91.25 (n)
cow
(Bos Taurus)
Mammalia ALKBH7 33 34
  • 88.99 (n)
mouse
(Mus musculus)
Mammalia Alkbh7 33 16 34
  • 80.54 (n)
rat
(Rattus norvegicus)
Mammalia Alkbh7 33
  • 79.94 (n)
lizard
(Anolis carolinensis)
Reptilia ALKBH7 34
  • 63 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia alkbh7 33
  • 57.07 (n)
Str.17266 33
zebrafish
(Danio rerio)
Actinopterygii alkbh7 33 34
  • 57.02 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP000760 33
  • 61.04 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG14130 33 34
  • 59.28 (n)
worm
(Caenorhabditis elegans)
Secernentea CELE_Y46G5A.35 33
  • 49.16 (n)
Y46G5A.35 34
  • 37 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea CSA.8958 34
  • 37 (a)
OneToOne
Species where no ortholog for ALKBH7 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for ALKBH7 Gene

ENSEMBL:
Gene Tree for ALKBH7 (if available)
TreeFam:
Gene Tree for ALKBH7 (if available)

Paralogs for ALKBH7 Gene

No data available for Paralogs for ALKBH7 Gene

Variants for ALKBH7 Gene

Sequence variations from dbSNP and Humsavar for ALKBH7 Gene

SNP ID Clin Chr 19 pos Sequence Context AA Info Type
rs1000359758 -- 6,374,658(+) GGTAC(-/T)TTCCC intron-variant, reference, frameshift-variant
rs1001502798 -- 6,372,623(+) AGGTG(A/G)CGCCC upstream-variant-2KB, utr-variant-5-prime
rs1001834728 -- 6,371,511(+) CTCAA(-/AAAC)AAACA upstream-variant-2KB
rs1002106291 -- 6,373,048(+) GGGGC(G/T)AGGGA intron-variant, upstream-variant-2KB
rs1002298396 -- 6,375,623(+) TGTGG(A/G)AGGGA intron-variant, downstream-variant-500B

Variation tolerance for ALKBH7 Gene

Residual Variation Intolerance Score: 60.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.99; 49.78% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ALKBH7 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
ALKBH7

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for ALKBH7 Gene

Disorders for ALKBH7 Gene

Relevant External Links for ALKBH7

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ALKBH7

No disorders were found for ALKBH7 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for ALKBH7 Gene

Publications for ALKBH7 Gene

  1. Human ALKBH7 is required for alkylation and oxidation-induced programmed necrosis. (PMID: 23666923) Fu D … Samson LD (Genes & development 2013) 2 3 4 60
  2. The atomic resolution structure of human AlkB homolog 7 (ALKBH7), a key protein for programmed necrosis and fat metabolism. (PMID: 25122757) Wang G … Chen Z (The Journal of biological chemistry 2014) 3 4 60
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 60
  4. The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. (PMID: 12975309) Clark HF … Gray A (Genome research 2003) 3 4 60
  5. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 60

Products for ALKBH7 Gene

Sources for ALKBH7 Gene

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