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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 Apoptosis and Autophagy and DNA Damage. 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).

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
GH19G006198 1.3 ENCODE dbSUPER 12 -172.8 -172751 1.6 HDGF FOXA2 PKNOX1 CREB3L1 ARNT WRNIP1 ARID4B SIN3A DMAP1 ZNF2 ZNF557 CLPP ALKBH7 ENSG00000267571 VMAC SNRPEP4 GTF2F1 SAFB SAFB2 SH2D3A
GH19G006201 1.2 ENCODE dbSUPER 12 -170.5 -170472 0.9 ELF3 FOXA2 ARID4B THRB ZNF48 ZSCAN9 RARA SLC30A9 CREM MIXL1 CLPP ALKBH7 RFX2 LOC105372255 GC19M006213
GH19G006371 1.1 ENCODE 0.7 +0.9 870 3.4 HDGF PKNOX1 CREB3L1 ARNT AGO1 ZFP64 SIN3A DMAP1 FEZF1 ZNF2 SNRPEP4 GTF2F1 ENSG00000269680 CLPP ALKBH7 PSPN
GH19G006360 1.1 ENCODE 0.4 -10.2 -10164 2.8 HDGF ARNT CREB3L1 ZFP64 ARID4B SIN3A DMAP1 YY1 SLC30A9 ZNF207 ENSG00000267571 SNRPEP4 ZNF557 VMAC SAFB SH2D3A RPL36 GTF2F1 CLPP SLC25A41
GH19G006377 0.5 ENCODE 0.4 +5.9 5902 1.2 POLR2A TEAD4 ZBTB33 ZIC2 MAFK GTF2F1 SLC25A41 CLPP PSPN ALKBH7
- 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 PKNOX1 CREB3L1 ARNT AGO1 ZFP64 SIN3A DMAP1 FEZF1 ZNF2

Genomic Location for ALKBH7 Gene

Chromosome:
19
Start:
6,372,433 bp from pter
End:
6,375,251 bp from pter
Size:
2,819 bases
Orientation:
Plus strand

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

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

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

CRISPR 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

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 IEA,IDA 23666923
GO:0010883 regulation of lipid storage IEA,ISS --
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

Transcripts for ALKBH7 Gene

Unigene Clusters for ALKBH7 Gene

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

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

Primer Products

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 34 35
  • 99.7 (n)
dog
(Canis familiaris)
Mammalia ALKBH7 34 35
  • 91.25 (n)
cow
(Bos Taurus)
Mammalia ALKBH7 34 35
  • 88.99 (n)
mouse
(Mus musculus)
Mammalia Alkbh7 34 16 35
  • 80.54 (n)
rat
(Rattus norvegicus)
Mammalia Alkbh7 34
  • 79.94 (n)
lizard
(Anolis carolinensis)
Reptilia ALKBH7 35
  • 63 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia alkbh7 34
  • 57.07 (n)
Str.17266 34
zebrafish
(Danio rerio)
Actinopterygii alkbh7 34 35
  • 57.02 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP000760 34
  • 61.04 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG14130 34 35
  • 59.28 (n)
worm
(Caenorhabditis elegans)
Secernentea CELE_Y46G5A.35 34
  • 49.16 (n)
Y46G5A.35 35
  • 37 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea CSA.8958 35
  • 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 L.D. (Genes Dev. 2013) 2 3 4 64
  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. (J. Biol. Chem. 2014) 3 4 64
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64
  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 H.F. … Gray A.M. (Genome Res. 2003) 3 4 64
  5. An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome. (PMID: 24275569) Bian Y. … Zou H. (J. Proteomics 2014) 4 64

Products for ALKBH7 Gene

Sources for ALKBH7 Gene

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