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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. 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.

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

Regulatory Elements for ALKBH4 Gene

Enhancers for ALKBH4 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
GH07G102987 1.6 Ensembl ENCODE dbSUPER 21 -526.5 -526489 6.9 HDGF PKNOX1 FOXA2 CREB3L1 ARNT SIN3A FEZF1 ZNF2 ZNF766 CBX5 PRKRIP1 ENSG00000213385 CRYZP1 ALKBH4 NAPEPLD PMPCB LRRC17 ARMC10 ENSG00000239486 RASA4
GH07G102414 1.6 FANTOM5 Ensembl ENCODE dbSUPER 12.4 +47.9 47903 4.4 HDGF MXI1 NFIB BACH1 MAX ARID3A ZNF316 GATA3 POLR2A EED ORAI2 LRWD1 ALKBH4 POLR2J PRKRIP1 LOC105375433 MIR548O
GH07G102419 1.5 Ensembl ENCODE dbSUPER 12.5 +44.2 44226 2.8 HDGF PKNOX1 CREB3L1 ARNT TCF12 ZNF766 ELK1 GATA2 ZNF143 CAVIN1 ORAI2 ALKBH4 LRWD1 CRYZP1 LOC105375433 MIR548O
GH07G102412 0.8 ENCODE dbSUPER 12.4 +52.2 52168 0.2 CTCF NFIC SMC3 ZBTB33 REST RAD21 ALKBH4 LRWD1 LOC105375433 MIR548O
GH07G102393 0.7 ENCODE 12.3 +71.0 70975 1.6 PKNOX1 JUN MAX ZBTB40 RFX5 GATA3 POLR2A RCOR1 FOS TCF7L2 ORAI2 SH2B2 LRWD1 ALKBH4 ENSG00000239486 MIR548O
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around ALKBH4 on UCSC Golden Path with GeneCards custom track

Promoters for ALKBH4 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000216102 -124 1601 HDGF PKNOX1 CREB3L1 AGO1 ARID4B SIN3A ZBTB7B YY1 ZNF766 ZNF207

Genomic Location for ALKBH4 Gene

Chromosome:
7
Start:
102,456,220 bp from pter
End:
102,464,876 bp from pter
Size:
8,657 bases
Orientation:
Minus strand

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

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

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for 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 IDA,IEA 23673617
GO:0070938 contractile ring IDA 23673617
genes like me logo Genes that share ontologies with ALKBH4: view

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

Transcripts for ALKBH4 Gene

Unigene Clusters for ALKBH4 Gene

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

Inhibitory RNA Products

Clone Products

Flow Cytometry 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

Primer Products

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 34 35
  • 99.12 (n)
dog
(Canis familiaris)
Mammalia ALKBH4 34 35
  • 86.42 (n)
cow
(Bos Taurus)
Mammalia ALKBH4 34 35
  • 86.09 (n)
mouse
(Mus musculus)
Mammalia Alkbh4 34 16 35
  • 81.55 (n)
rat
(Rattus norvegicus)
Mammalia Alkbh4 34
  • 79.84 (n)
oppossum
(Monodelphis domestica)
Mammalia ALKBH4 35
  • 68 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ALKBH4 35
  • 66 (a)
OneToOne
chicken
(Gallus gallus)
Aves ALKBH4 34 35
  • 65 (n)
tropical clawed frog
(Silurana tropicalis)
Amphibia alkbh4 34
  • 58.45 (n)
Str.701 34
African clawed frog
(Xenopus laevis)
Amphibia Xl.3979 34
zebrafish
(Danio rerio)
Actinopterygii alkbh4 34 35
  • 58.72 (n)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.12271 34
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP009588 34
  • 50.79 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG4036 34 35
  • 50.31 (n)
worm
(Caenorhabditis elegans)
Secernentea F09F7.7 34 35
  • 47.6 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 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 Sequence Context AA Info Type
rs1000046552 -- 102,463,744(+) TCCTT(C/T)GGATA intron-variant, upstream-variant-2KB
rs1000372630 -- 102,457,943(+) GTCTT(C/T)AGCTT reference, synonymous-codon, utr-variant-5-prime
rs1000835520 -- 102,455,848(+) AGAAA(C/G)CCATC intron-variant, downstream-variant-500B, utr-variant-3-prime
rs1001022945 -- 102,461,062(+) CCAGG(C/T)ACGGT intron-variant
rs1001262173 -- 102,466,472(+) TGCAG(C/T)GATGC intron-variant, upstream-variant-2KB

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)

Relevant External Links 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

Relevant External Links for ALKBH4

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
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 M.M. … Yang Y.G. (Nat. Commun. 2013) 2 3 4 64
  2. Human ALKBH4 interacts with proteins associated with transcription. (PMID: 23145062) BjA … Falnes P.A.9. (PLoS ONE 2012) 3 4 64
  3. Spectroscopic and magnetic studies of wild-type and mutant forms of the Fe(II)- and 2-oxoglutarate-dependent decarboxylase ALKBH4. (PMID: 21166655) BjA … Andersson K.K. (Biochem. J. 2011) 3 4 64
  4. Expression and sub-cellular localization of human ABH family molecules. (PMID: 17979886) Tsujikawa K. … Yamamoto H. (J. Cell. Mol. Med. 2007) 3 4 64
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64

Products for ALKBH4 Gene

Sources for ALKBH4 Gene

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