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Aliases for ALKBH4 Gene

Aliases for ALKBH4 Gene

  • AlkB Homolog 4, Lysine Demethylase 2 3 5
  • Alkylated DNA Repair Protein AlkB Homolog 4 3 4
  • ABH4 3 4
  • Alpha-Ketoglutarate-Dependent Dioxygenase AlkB Homolog 4 3
  • Probable Alpha-Ketoglutarate-Dependent Dioxygenase ABH4 3
  • AlkB, Alkylation Repair Homolog 4 (E. Coli) 2
  • AlkB Homolog 4, Lysine Demthylase 3
  • AlkB, Alkylation Repair Homolog 4 3
  • EC 1.14.11.- 4

External Ids for ALKBH4 Gene

Previous GeneCards Identifiers for ALKBH4 Gene

  • GC07M101883
  • GC07M102096
  • GC07M096686

Summaries for ALKBH4 Gene

GeneCards Summary for ALKBH4 Gene

ALKBH4 (AlkB Homolog 4, Lysine Demethylase) is a Protein Coding gene. Gene Ontology (GO) annotations related to this gene include actin binding and oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors.

UniProtKB/Swiss-Prot for ALKBH4 Gene

  • Dioxygenase that mediates demethylation of actin monomethylated at Lys-84 (K84me1), thereby acting as a regulator of actomyosin-processes. Demethylation of actin K84me1 is required for maintaining actomyosin dynamics supporting normal cleavage furrow ingression during cytokinesis and cell migration. May be involved in transcription regulation.

Additional gene information for ALKBH4 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 ALKBH4 Gene

Genomics for ALKBH4 Gene

GeneHancer (GH) Regulatory Elements for ALKBH4 Gene

Promoters and enhancers for ALKBH4 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH07I102463 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 550.8 -0.2 -177 2.1 HDGF PKNOX1 ARID4B SIN3A ZBTB7B YY1 POLR2B ZNF766 E2F8 ZNF207 ALKBH4 GC07P102467 PIR43748 LRWD1 MIR5090 ENSG00000272949 POLR2J ORAI2 SPDYE2 RASA4DP
GH07I102423 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE dbSUPER 11.3 +35.5 35491 12.2 HDGF PKNOX1 ATF1 SMAD1 SIN3A DMAP1 GLI4 IRF4 ZNF48 ZNF121 ORAI2 GC07M102430 PRKRIP1 ENSG00000239486 ENSG00000272949 ALKBH4 NAPEPLD POLR2J RASA4DP PIR39315
GH07I102571 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 11.2 -107.7 -107656 1.5 ARNT SIN3A FEZF1 ZNF2 POLR2B ZNF213 E2F8 ZNF416 ZNF207 ZNF143 POLR2J3 CRYZP1 ENSG00000213385 PRKRIP1 DNAJC2 PMPCB ENSG00000239486 FAM185A NAPEPLD ALKBH4
GH07I102987 Enhancer 1.5 Ensembl ENCODE dbSUPER 11.1 -526.5 -526489 6.9 HDGF PKNOX1 FOXA2 ARNT SIN3A FEZF1 ZNF2 POLR2B ZNF766 CBX5 PRKRIP1 ENSG00000213385 CRYZP1 ENSG00000239486 DNAJC2 NAPEPLD PMPCB ALKBH4 DPY19L2P2 LRRC17
GH07I102419 Enhancer 1.3 Ensembl ENCODE dbSUPER 12.5 +44.2 44226 2.8 PKNOX1 ARNT TCF12 ZNF766 GATA2 ATF7 CAVIN1 NCOA1 ZNF592 MBD2 LOC105375433 ORAI2 ENSG00000272949 ALKBH4 LRWD1 DNAJC2 RASA4B CRYZP1 MIR548O LOC100630923
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around ALKBH4 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the ALKBH4 gene promoter:

Genomic Locations for ALKBH4 Gene

Genomic Locations for ALKBH4 Gene
chr7:102,456,220-102,464,876
(GRCh38/hg38)
Size:
8,657 bases
Orientation:
Minus strand
chr7:102,096,667-102,105,323
(GRCh37/hg19)

Genomic View for ALKBH4 Gene

Genes around ALKBH4 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ALKBH4 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ALKBH4 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ALKBH4 Gene

Proteins for ALKBH4 Gene

  • Protein details for ALKBH4 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9NXW9-ALKB4_HUMAN
    Recommended name:
    Alpha-ketoglutarate-dependent dioxygenase alkB homolog 4
    Protein Accession:
    Q9NXW9
    Secondary Accessions:
    • Q53H92
    • Q9H6A4

    Protein attributes for ALKBH4 Gene

    Size:
    302 amino acids
    Molecular mass:
    33838 Da
    Cofactor:
    Name=Fe(2+); Xref=ChEBI:CHEBI:29033;
    Quaternary structure:
    • Interacts with ZFHX3, MLLT3, MLLT1, HSF4, EP300, TES, EIF3C, MTMR6 and PSMA6.
    Miscellaneous:
    • Actin demethylase activity has not been directly confirmed in vitro; however a number of experiments strongly suggest that ALKBH4 acts as a protein demethylase.
    SequenceCaution:
    • Sequence=BAB15358.1; Type=Erroneous translation; Note=Wrong choice of CDS.; Evidence={ECO:0000305};

    Alternative splice isoforms for ALKBH4 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ALKBH4 Gene

Post-translational modifications for ALKBH4 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for ALKBH4 Gene

No data available for DME Specific Peptides for ALKBH4 Gene

Domains & Families for ALKBH4 Gene

Gene Families for ALKBH4 Gene

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

Protein Domains for ALKBH4 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for ALKBH4 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9NXW9

UniProtKB/Swiss-Prot:

ALKB4_HUMAN :
  • Belongs to the alkB family.
Family:
  • Belongs to the alkB family.
genes like me logo Genes that share domains with ALKBH4: view

Function for ALKBH4 Gene

Molecular function for ALKBH4 Gene

UniProtKB/Swiss-Prot Function:
Dioxygenase that mediates demethylation of actin monomethylated at Lys-84 (K84me1), thereby acting as a regulator of actomyosin-processes. Demethylation of actin K84me1 is required for maintaining actomyosin dynamics supporting normal cleavage furrow ingression during cytokinesis and cell migration. May be involved in transcription regulation.

Enzyme Numbers (IUBMB) for ALKBH4 Gene

Gene Ontology (GO) - Molecular Function for ALKBH4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003779 actin binding IDA 23673617
GO:0005515 protein binding IPI 21516116
GO:0016491 oxidoreductase activity IEA --
GO:0016706 oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors IDA 21166655
GO:0032451 demethylase activity TAS 23673617
genes like me logo Genes that share ontologies with ALKBH4: view

Phenotypes for ALKBH4 Gene

genes like me logo Genes that share phenotypes with ALKBH4: view

Animal Models for ALKBH4 Gene

MGI Knock Outs for ALKBH4:

Animal Model Products

Clone Products

No data available for Phenotypes From GWAS Catalog , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for ALKBH4 Gene

Localization for ALKBH4 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ALKBH4 Gene

Cytoplasm. Nucleus. Midbody. Note=Associates with the contractile ring and midbody.

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 ALKBH4 gene
Compartment Confidence
nucleus 5
mitochondrion 2
cytosol 2
extracellular 1

Gene Ontology (GO) - Cellular Components for ALKBH4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005737 cytoplasm IEA --
GO:0030496 midbody IEA,IDA 23673617
GO:0070938 contractile ring IDA 23673617
genes like me logo Genes that share ontologies with ALKBH4: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for ALKBH4 Gene

Pathways & Interactions for ALKBH4 Gene

SuperPathways for ALKBH4 Gene

No Data Available

Interacting Proteins for ALKBH4 Gene

Gene Ontology (GO) - Biological Process for ALKBH4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0006482 protein demethylation IDA 23673617
GO:0031032 actomyosin structure organization IMP 23673617
GO:0036090 cleavage furrow ingression IMP 23673617
genes like me logo Genes that share ontologies with ALKBH4: view

No data available for Pathways by source and SIGNOR curated interactions for ALKBH4 Gene

Drugs & Compounds for ALKBH4 Gene

No Compound Related Data Available

Transcripts for ALKBH4 Gene

Unigene Clusters for ALKBH4 Gene

AlkB, alkylation repair homolog 4 (E. coli):
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for ALKBH4 Gene

ExUns: 1a · 1b ^ 2a · 2b · 2c ^ 3a · 3b · 3c · 3d
SP1: -
SP2: -
SP3: - -
SP4:
SP5: - - -

Relevant External Links for ALKBH4 Gene

GeneLoc Exon Structure for
ALKBH4
ECgene alternative splicing isoforms for
ALKBH4

Expression for ALKBH4 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for ALKBH4 Gene

Protein differential expression in normal tissues from HIPED for ALKBH4 Gene

This gene is overexpressed in Fetal Brain (16.8), Lymph node (8.8), Skin (8.0), and Uterus (6.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for ALKBH4 Gene



Protein tissue co-expression partners for ALKBH4 Gene

NURSA nuclear receptor signaling pathways regulating expression of ALKBH4 Gene:

ALKBH4

SOURCE GeneReport for Unigene cluster for ALKBH4 Gene:

Hs.658598

mRNA Expression by UniProt/SwissProt for ALKBH4 Gene:

Q9NXW9-ALKB4_HUMAN
Tissue specificity: Widely expressed, with highest expression in pancreas, ovary and spleen.

Evidence on tissue expression from TISSUES for ALKBH4 Gene

  • Nervous system(4.2)
  • Lung(4.1)
genes like me logo Genes that share expression patterns with ALKBH4: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for ALKBH4 Gene

Orthologs for ALKBH4 Gene

This gene was present in the common ancestor of animals.

Orthologs for ALKBH4 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ALKBH4 33 34
  • 99.12 (n)
dog
(Canis familiaris)
Mammalia ALKBH4 33 34
  • 86.42 (n)
cow
(Bos Taurus)
Mammalia ALKBH4 33 34
  • 86.09 (n)
mouse
(Mus musculus)
Mammalia Alkbh4 33 16 34
  • 81.55 (n)
rat
(Rattus norvegicus)
Mammalia Alkbh4 33
  • 79.84 (n)
oppossum
(Monodelphis domestica)
Mammalia ALKBH4 34
  • 68 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ALKBH4 34
  • 66 (a)
OneToOne
chicken
(Gallus gallus)
Aves ALKBH4 33 34
  • 65 (n)
tropical clawed frog
(Silurana tropicalis)
Amphibia alkbh4 33
  • 58.45 (n)
Str.701 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.3979 33
zebrafish
(Danio rerio)
Actinopterygii alkbh4 33 34
  • 58.72 (n)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.12271 33
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP009588 33
  • 50.79 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG4036 33 34
  • 50.31 (n)
worm
(Caenorhabditis elegans)
Secernentea F09F7.7 34 33
  • 47.6 (n)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 43 (a)
OneToOne
Species where no ortholog for ALKBH4 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • 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)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • 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 ALKBH4 Gene

ENSEMBL:
Gene Tree for ALKBH4 (if available)
TreeFam:
Gene Tree for ALKBH4 (if available)

Paralogs for ALKBH4 Gene

No data available for Paralogs for ALKBH4 Gene

Variants for ALKBH4 Gene

Sequence variations from dbSNP and Humsavar for ALKBH4 Gene

SNP ID Clin Chr 07 pos Variation AA Info Type
rs1000046552 -- 102,463,744(-) T/C intron_variant
rs1000372630 -- 102,457,943(-) T/C 5_prime_UTR_variant, coding_sequence_variant, synonymous_variant
rs1000835520 -- 102,455,848(-) C/G downstream_transcript_variant
rs1001022945 -- 102,461,062(-) C/T intron_variant
rs1001262173 -- 102,466,472(-) T/C upstream_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for ALKBH4 Gene

Variant ID Type Subtype PubMed ID
dgv11540n54 CNV loss 21841781
dgv6538n100 CNV gain 25217958
nsv428182 CNV gain 18775914
nsv464664 CNV gain 19166990
nsv464665 CNV loss 19166990
nsv5879 CNV deletion 18451855
nsv607998 CNV gain+loss 21841781
nsv607999 CNV loss 21841781
nsv8192 CNV gain 18304495
nsv824248 CNV gain 20364138
nsv831083 CNV loss 17160897

Variation tolerance for ALKBH4 Gene

Residual Variation Intolerance Score: 54.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.42; 63.87% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ALKBH4 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
ALKBH4

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ALKBH4 Gene

Disorders for ALKBH4 Gene

Additional Disease Information for ALKBH4

No disorders were found for ALKBH4 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for ALKBH4 Gene

Publications for ALKBH4 Gene

  1. ALKBH4-dependent demethylation of actin regulates actomyosin dynamics. (PMID: 23673617) Li MM … Yang YG (Nature communications 2013) 2 3 4 58
  2. Human ALKBH4 interacts with proteins associated with transcription. (PMID: 23145062) Bjørnstad LG … Falnes PØ (PloS one 2012) 3 4 58
  3. Spectroscopic and magnetic studies of wild-type and mutant forms of the Fe(II)- and 2-oxoglutarate-dependent decarboxylase ALKBH4. (PMID: 21166655) Bjørnstad LG … Andersson KK (The Biochemical journal 2011) 3 4 58
  4. Expression and sub-cellular localization of human ABH family molecules. (PMID: 17979886) Tsujikawa K … Yamamoto H (Journal of cellular and molecular medicine 2007) 3 4 58
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58

Products for ALKBH4 Gene

Sources for ALKBH4 Gene

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