Aliases for DBF4 Gene

Aliases for DBF4 Gene

  • DBF4 Zinc Finger 2 3 5
  • Activator Of S Phase Kinase 2 3 4
  • DBF4A 2 3 4
  • ZDBF1 2 3 4
  • ASK 2 3 4
  • DBF4-Type Zinc Finger-Containing Protein 1 3 4
  • Zinc Finger, DBF-Type Containing 1 2 3
  • Protein DBF4 Homolog A 3 4
  • DBF4 Zinc Finger A 2 3
  • Chiffon Homolog A 3 4
  • Chiffon Homolog (Drosophila) 2
  • DBF4 Homolog (S. Cerevisiae) 2
  • DBF4 Homolog 3
  • CHIF 3
  • DBF4 5
  • Chif 2

External Ids for DBF4 Gene

Previous GeneCards Identifiers for DBF4 Gene

  • GC07P087151
  • GC07P087343
  • GC07P087505
  • GC07P082115

Summaries for DBF4 Gene

GeneCards Summary for DBF4 Gene

DBF4 (DBF4 Zinc Finger) is a Protein Coding gene. Diseases associated with DBF4 include Myasthenic Syndrome, Congenital, 6, Presynaptic and Congenital Myasthenic Syndrome. Among its related pathways are Cell Cycle, Mitotic and CDK-mediated phosphorylation and removal of Cdc6. Gene Ontology (GO) annotations related to this gene include nucleic acid binding and enzyme activator activity. An important paralog of this gene is DBF4B.

UniProtKB/Swiss-Prot Summary for DBF4 Gene

  • Regulatory subunit for CDC7 which activates its kinase activity thereby playing a central role in DNA replication and cell proliferation. Required for progression of S phase. The complex CDC7-DBF4A selectively phosphorylates MCM2 subunit at 'Ser-40' and 'Ser-53' and then is involved in regulating the initiation of DNA replication during cell cycle.

Gene Wiki entry for DBF4 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for DBF4 Gene

Genomics for DBF4 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for DBF4 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around DBF4 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for DBF4

Top Transcription factor binding sites by QIAGEN in the DBF4 gene promoter:
  • AP-1
  • ATF-2
  • c-Jun
  • CREB
  • deltaCREB
  • GATA-1
  • POU2F1
  • POU2F1a
  • POU2F1b
  • YY1

Genomic Locations for DBF4 Gene

Latest Assembly
chr7:87,876,216-87,909,553
(GRCh38/hg38)
Size:
33,338 bases
Orientation:
Plus strand

Previous Assembly
chr7:87,505,808-87,538,868
(GRCh37/hg19 by Entrez Gene)
Size:
33,061 bases
Orientation:
Plus strand

chr7:87,505,531-87,538,856
(GRCh37/hg19 by Ensembl)
Size:
33,326 bases
Orientation:
Plus strand

Genomic View for DBF4 Gene

Genes around DBF4 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
DBF4 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for DBF4 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DBF4 Gene

Proteins for DBF4 Gene

  • Protein details for DBF4 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9UBU7-DBF4A_HUMAN
    Recommended name:
    Protein DBF4 homolog A
    Protein Accession:
    Q9UBU7
    Secondary Accessions:
    • A4D1D8
    • A8K954
    • O75226
    • Q75MS6
    • Q75N01
    • Q9Y2M6

    Protein attributes for DBF4 Gene

    Size:
    674 amino acids
    Molecular mass:
    76858 Da
    Quaternary structure:
    • Forms a complex with CDC7. Note that CDC7 forms distinct complex either with DBF4A or DBF4B. Such complexes are stable upon replication stress. Interacts with MEN1, MCM2, ORC2, ORC4 and ORC6. Interacts (via IBM motifs) with PSIP1 (via IBD domain); phosphorylation increases its affinity for PSIP1 (PubMed:29997176).

    Three dimensional structures from OCA and Proteopedia for DBF4 Gene

    Alternative splice isoforms for DBF4 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for DBF4 Gene

Post-translational modifications for DBF4 Gene

Other Protein References for DBF4 Gene

No data available for DME Specific Peptides for DBF4 Gene

Domains & Families for DBF4 Gene

Gene Families for DBF4 Gene

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

Protein Domains for DBF4 Gene

InterPro:

Suggested Antigen Peptide Sequences for DBF4 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ59266, highly similar to Protein DBF4 homolog (B4DXK0_HUMAN)
  • cDNA FLJ61644, highly similar to Protein DBF4 homolog (B7Z8C6_HUMAN)
  • DBF4-type zinc finger-containing protein 1 (DBF4A_HUMAN)
genes like me logo Genes that share domains with DBF4: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for DBF4 Gene

Function for DBF4 Gene

Molecular function for DBF4 Gene

UniProtKB/Swiss-Prot Function:
Regulatory subunit for CDC7 which activates its kinase activity thereby playing a central role in DNA replication and cell proliferation. Required for progression of S phase. The complex CDC7-DBF4A selectively phosphorylates MCM2 subunit at 'Ser-40' and 'Ser-53' and then is involved in regulating the initiation of DNA replication during cell cycle.
UniProtKB/Swiss-Prot Induction:
Induced in G1 phase at low level, increased during G1-S phase and remain high during S and G2-M phase.

Phenotypes From GWAS Catalog for DBF4 Gene

Gene Ontology (GO) - Molecular Function for DBF4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003676 nucleic acid binding IEA --
GO:0005515 protein binding IPI 16899510
GO:0008047 enzyme activator activity TAS 10373557
GO:0008270 zinc ion binding IEA --
GO:0043539 protein serine/threonine kinase activator activity IBA 21873635
genes like me logo Genes that share ontologies with DBF4: view
genes like me logo Genes that share phenotypes with DBF4: view

Animal Models for DBF4 Gene

MGI Knock Outs for DBF4:
  • Dbf4 Dbf4<tm1b(KOMP)Wtsi>

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for DBF4

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for DBF4 Gene

Localization for DBF4 Gene

Subcellular locations from UniProtKB/Swiss-Prot for DBF4 Gene

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 DBF4 gene
Compartment Confidence
nucleus 5
cytoskeleton 2
cytosol 2
plasma membrane 1
extracellular 1
mitochondrion 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nuclear bodies (3)
  • Nucleoplasm (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for DBF4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IBA 21873635
GO:0005654 nucleoplasm TAS --
GO:0016604 nuclear body IDA --
GO:0031431 Dbf4-dependent protein kinase complex IBA 21873635
genes like me logo Genes that share ontologies with DBF4: view

Pathways & Interactions for DBF4 Gene

genes like me logo Genes that share pathways with DBF4: view

Pathways by source for DBF4 Gene

1 KEGG pathway for DBF4 Gene
1 GeneGo (Thomson Reuters) pathway for DBF4 Gene
  • Cell cycle Start of DNA replication in early S phase

SIGNOR curated interactions for DBF4 Gene

Is inactivated by:

Gene Ontology (GO) - Biological Process for DBF4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000082 G1/S transition of mitotic cell cycle TAS --
GO:0006260 DNA replication TAS --
GO:0007049 cell cycle IEA --
GO:0010571 positive regulation of nuclear cell cycle DNA replication IBA 21873635
GO:0050790 regulation of catalytic activity IEA --
genes like me logo Genes that share ontologies with DBF4: view

Drugs & Compounds for DBF4 Gene

No Compound Related Data Available

Transcripts for DBF4 Gene

mRNA/cDNA for DBF4 Gene

4 REFSEQ mRNAs :
13 NCBI additional mRNA sequence :
8 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for DBF4

Alternative Splicing Database (ASD) splice patterns (SP) for DBF4 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8a · 8b ^ 9 ^ 10 ^ 11a · 11b
SP1:
SP2: -
SP3: -
SP4: - - - - - - - -

Relevant External Links for DBF4 Gene

GeneLoc Exon Structure for
DBF4

Expression for DBF4 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for DBF4 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for DBF4 Gene

This gene is overexpressed in Testis (x8.8).

Protein differential expression in normal tissues from HIPED for DBF4 Gene

This gene is overexpressed in Testis (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for DBF4 Gene



Protein tissue co-expression partners for DBF4 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for DBF4

SOURCE GeneReport for Unigene cluster for DBF4 Gene:

Hs.485380

mRNA Expression by UniProt/SwissProt for DBF4 Gene:

Q9UBU7-DBF4A_HUMAN
Tissue specificity: Highly expressed in testis and thymus. Expressed also in most cancer cells lines.

Evidence on tissue expression from TISSUES for DBF4 Gene

  • Nervous system(4.8)
genes like me logo Genes that share expression patterns with DBF4: view

Primer products for research

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for DBF4 Gene

Orthologs for DBF4 Gene

This gene was present in the common ancestor of chordates.

Orthologs for DBF4 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia DBF4 29 30
  • 99.9 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia DBF4 29 30
  • 88.66 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia DBF4 29 30
  • 86.2 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Dbf4 29
  • 78.03 (n)
Mouse
(Mus musculus)
Mammalia Dbf4 29 16 30
  • 77.19 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia -- 30
  • 67 (a)
OneToMany
-- 30
  • 32 (a)
OneToMany
Oppossum
(Monodelphis domestica)
Mammalia DBF4 30
  • 56 (a)
OneToOne
Chicken
(Gallus gallus)
Aves DBF4 29 30
  • 60.9 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia DBF4 30
  • 42 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.20827 29
Zebrafish
(Danio rerio)
Actinopterygii dbf4 30
  • 26 (a)
OneToOne
Species where no ortholog for DBF4 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • 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)
  • Fruit Fly (Drosophila melanogaster)
  • 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)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • 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)
  • Tropical Clawed Frog (Silurana tropicalis)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for DBF4 Gene

ENSEMBL:
Gene Tree for DBF4 (if available)
TreeFam:
Gene Tree for DBF4 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for DBF4: view image
Alliance of Genome Resources:
Additional Orthologs for DBF4

Paralogs for DBF4 Gene

Paralogs for DBF4 Gene

Pseudogenes.org Pseudogenes for DBF4 Gene

genes like me logo Genes that share paralogs with DBF4: view

Variants for DBF4 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for DBF4 Gene

SNP ID Clinical significance and condition Chr 07 pos Variation AA Info Type
rs138055219 Benign: not provided 87,907,714(+) A/G
NM_006716.4(DBF4):c.1576A>G (p.Ile526Val)
MISSENSE
rs34483317 Benign: not provided 87,878,060(+) C/A
NM_006716.4(DBF4):c.54C>A (p.Ile18=)
SYNONYMOUS_VARIANT,FIVE_PRIME_UTR
rs61747462 Benign: not provided 87,907,873(+) A/G
NM_006716.4(DBF4):c.1735A>G (p.Lys579Glu)
MISSENSE
rs1476703 -- p.Tyr112Asn
rs2041049 -- p.His575Arg

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for DBF4 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for DBF4 Gene

Variant ID Type Subtype PubMed ID
nsv464622 CNV gain 19166990
nsv525073 CNV gain 19592680
nsv607725 CNV gain 21841781

Variation tolerance for DBF4 Gene

Residual Variation Intolerance Score: 76% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.47; 64.28% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for DBF4 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
DBF4
Leiden Open Variation Database (LOVD)
DBF4

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for DBF4 Gene

Disorders for DBF4 Gene

MalaCards: The human disease database

(2) MalaCards diseases for DBF4 Gene - From: COP

Disorder Aliases PubMed IDs
myasthenic syndrome, congenital, 6, presynaptic
  • cms6
congenital myasthenic syndrome
  • congenital myasthenic syndromes
- elite association - COSMIC cancer census association via MalaCards
Search DBF4 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for DBF4

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with DBF4: view

No data available for UniProtKB/Swiss-Prot and Genatlas for DBF4 Gene

Publications for DBF4 Gene

  1. Functional interaction between tumor suppressor menin and activator of S-phase kinase. (PMID: 15374998) Schnepp RW … Hua X (Cancer research 2004) 3 4 22
  2. Mammalian Cdc7-Dbf4 protein kinase complex is essential for initiation of DNA replication. (PMID: 10523313) Jiang W … Hunter T (The EMBO journal 1999) 3 4 22
  3. A novel growth- and cell cycle-regulated protein, ASK, activates human Cdc7-related kinase and is essential for G1/S transition in mammalian cells. (PMID: 10373557) Kumagai H … Masai H (Molecular and cellular biology 1999) 2 3 4
  4. Affinity switching of the LEDGF/p75 IBD interactome is governed by kinase-dependent phosphorylation. (PMID: 29997176) Sharma S … Veverka V (Proceedings of the National Academy of Sciences of the United States of America 2018) 3 4
  5. The role of Dbf4/Drf1-dependent kinase Cdc7 in DNA-damage checkpoint control. (PMID: 19111665) Tsuji T … Jiang W (Molecular cell 2008) 3 22

Products for DBF4 Gene

Sources for DBF4 Gene