Aliases for ADCK5 Gene

Aliases for ADCK5 Gene

  • AarF Domain Containing Kinase 5 2 3 5
  • Uncharacterized AarF Domain-Containing Protein Kinase 5 3 4
  • EC 2.7.11.- 4
  • FLJ35454 2
  • ADCK5 5

External Ids for ADCK5 Gene

Previous GeneCards Identifiers for ADCK5 Gene

  • GC08P145201
  • GC08P145602
  • GC08P145561
  • GC08P140711
  • GC08P145596

Summaries for ADCK5 Gene

GeneCards Summary for ADCK5 Gene

ADCK5 (AarF Domain Containing Kinase 5) is a Protein Coding gene. Diseases associated with ADCK5 include Optic Atrophy 11. Gene Ontology (GO) annotations related to this gene include transferase activity, transferring phosphorus-containing groups and protein serine/threonine kinase activity. An important paralog of this gene is ADCK1.

UniProtKB/Swiss-Prot Summary for ADCK5 Gene

  • The function of this protein is not yet clear. It is not known if it has protein kinase activity and what type of substrate it would phosphorylate (Ser, Thr or Tyr).

Additional gene information for ADCK5 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ADCK5 Gene

Genomics for ADCK5 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for ADCK5 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
GH08J144372 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas 600.7 +1.0 964 3.2 SP1 CREB1 CTCF ZBTB33 HNRNPL ATF7 TEAD4 ZNF629 TFE3 IKZF1 ADCK5 LOC101928902 CPSF1 LRRC14 ZNF517 ZNF7 ZNF623 ZNF250 VPS28 ZNF251
GH08J143927 Promoter/Enhancer 2.8 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 27.4 -429.4 -429400 32.1 CEBPG SP1 HNRNPL CREB1 GATAD2A ZBTB33 ATF7 TEAD4 PRDM10 ZNF629 PLEC NONHSAG051524.2 MIR661 CPSF1 VPS28 ZNF7 ADCK5 COMMD5 LRRC14 ZNF707
GH08J144094 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 36.6 -276.9 -276931 5.5 BRCA1 SP1 HNRNPL CREB1 CTCF PRDM10 ZNF629 TFE3 RFX1 POLR2A CYC1 CPSF1 VPS28 ZNF7 ADCK5 LRRC14 FBXL6 ZNF250 COMMD5 ZNF707
GH08J143595 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas 32.3 -775.2 -775169 5.1 ARHGAP35 SP1 HNRNPL CREB1 ATF7 PRDM10 ZNF629 TFE3 SIX5 LEF1 TIGD5 EEF1D lnc-NAPRT-3 piR-51576 ZC3H3 CPSF1 VPS28 NAPRT JRK ZNF623
GH08J144899 Promoter/Enhancer 2.3 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas 26.4 +528.3 528300 4 SP1 CREB1 GATAD2A CTCF ATF7 PRDM10 REST ZNF629 TFE3 LEF1 ZNF250 lnc-ZNF16-1 ZNF7 VPS28 CPSF1 COMMD5 RPL8 GPAA1 SLC52A2 LRRC14
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ADCK5 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ADCK5

Top Transcription factor binding sites by QIAGEN in the ADCK5 gene promoter:
  • AML1a
  • c-Myc
  • c-Rel
  • Max
  • NRSF form 1
  • NRSF form 2
  • Pax-5
  • PPAR-gamma1
  • PPAR-gamma2
  • STAT3

Genomic Locations for ADCK5 Gene

Genomic Locations for ADCK5 Gene
chr8:144,373,101-144,393,242
(GRCh38/hg38)
Size:
20,142 bases
Orientation:
Plus strand
chr8:145,596,790-145,618,457
(GRCh37/hg19)
Size:
21,668 bases
Orientation:
Plus strand

Genomic View for ADCK5 Gene

Genes around ADCK5 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ADCK5 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ADCK5 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ADCK5 Gene

Proteins for ADCK5 Gene

  • Protein details for ADCK5 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q3MIX3-ADCK5_HUMAN
    Recommended name:
    Uncharacterized aarF domain-containing protein kinase 5
    Protein Accession:
    Q3MIX3
    Secondary Accessions:
    • B3KS46
    • Q5U4P1
    • Q6P2S4
    • Q8N5V3

    Protein attributes for ADCK5 Gene

    Size:
    580 amino acids
    Molecular mass:
    65828 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAH31570.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};

neXtProt entry for ADCK5 Gene

Post-translational modifications for ADCK5 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for ADCK5 Gene

Domains & Families for ADCK5 Gene

Gene Families for ADCK5 Gene

IUPHAR :
Human Protein Atlas (HPA):
  • Enzymes
  • Predicted membrane proteins

Protein Domains for ADCK5 Gene

InterPro:
Blocks:
  • ABC1 protein
ProtoNet:

Suggested Antigen Peptide Sequences for ADCK5 Gene

GenScript: Design optimal peptide antigens:
  • Uncharacterized aarF domain-containing protein kinase 5 (ADCK5_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q3MIX3

UniProtKB/Swiss-Prot:

ADCK5_HUMAN :
  • Belongs to the protein kinase superfamily. ADCK protein kinase family.
Family:
  • Belongs to the protein kinase superfamily. ADCK protein kinase family.
genes like me logo Genes that share domains with ADCK5: view

Function for ADCK5 Gene

Molecular function for ADCK5 Gene

UniProtKB/Swiss-Prot Function:
The function of this protein is not yet clear. It is not known if it has protein kinase activity and what type of substrate it would phosphorylate (Ser, Thr or Tyr).

Enzyme Numbers (IUBMB) for ADCK5 Gene

Phenotypes From GWAS Catalog for ADCK5 Gene

Gene Ontology (GO) - Molecular Function for ADCK5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004674 protein serine/threonine kinase activity IEA --
GO:0005515 protein binding IPI 25416956
GO:0016301 kinase activity IEA --
GO:0016740 transferase activity IEA --
genes like me logo Genes that share ontologies with ADCK5: view
genes like me logo Genes that share phenotypes with ADCK5: view

Animal Model Products

  • Taconic Biosciences Mouse Models for ADCK5

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ADCK5

No data available for Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for ADCK5 Gene

Localization for ADCK5 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ADCK5 Gene

Membrane. Single-pass membrane protein.

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 ADCK5 gene
Compartment Confidence
mitochondrion 3
cytosol 3
plasma membrane 2

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Plasma membrane (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for ADCK5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with ADCK5: view

Pathways & Interactions for ADCK5 Gene

PathCards logo

SuperPathways for ADCK5 Gene

No Data Available

Gene Ontology (GO) - Biological Process for ADCK5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006468 protein phosphorylation IEA --
GO:0016310 phosphorylation IEA --
genes like me logo Genes that share ontologies with ADCK5: view

No data available for Pathways by source and SIGNOR curated interactions for ADCK5 Gene

Drugs & Compounds for ADCK5 Gene

No Compound Related Data Available

Transcripts for ADCK5 Gene

mRNA/cDNA for ADCK5 Gene

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

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ADCK5

Alternative Splicing Database (ASD) splice patterns (SP) for ADCK5 Gene

ExUns: 1 ^ 2 ^ 3a · 3b · 3c ^ 4 ^ 5 ^ 6a · 6b ^ 7 ^ 8 ^ 9a · 9b · 9c ^ 10a · 10b · 10c ^ 11a · 11b ^ 12 ^ 13 ^ 14a · 14b ^ 15a · 15b ^ 16 ^
SP1: - - - - -
SP2: - - -
SP3: - - - -
SP4: - - -
SP5: -
SP6: -
SP7: - - -
SP8: - -
SP9: - -
SP10:
SP11:
SP12:
SP13: - - - - - - -
SP14: -

ExUns: 17 ^ 18 ^ 19 ^ 20
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:
SP14:

Relevant External Links for ADCK5 Gene

GeneLoc Exon Structure for
ADCK5

Expression for ADCK5 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for ADCK5 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for ADCK5 Gene

This gene is overexpressed in Lung (33.3), Heart (13.1), and Testis (8.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for ADCK5 Gene



Protein tissue co-expression partners for ADCK5 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ADCK5

SOURCE GeneReport for Unigene cluster for ADCK5 Gene:

Hs.283374

Evidence on tissue expression from TISSUES for ADCK5 Gene

  • Nervous system(4.3)
  • Intestine(4.2)
genes like me logo Genes that share expression patterns with ADCK5: view

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for ADCK5 Gene

Orthologs for ADCK5 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for ADCK5 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia ADCK5 30 31
  • 99.48 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia ADCK5 30 31
  • 88.11 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia ADCK5 30 31
  • 84.83 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Adck5 30
  • 81.98 (n)
Mouse
(Mus musculus)
Mammalia Adck5 30 17 31
  • 81.75 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia ADCK5 31
  • 75 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia ADCK5 31
  • 71 (a)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia ADCK5 31
  • 61 (a)
OneToOne
Zebrafish
(Danio rerio)
Actinopterygii adck5 30 31
  • 63.7 (n)
OneToOne
Fruit Fly
(Drosophila melanogaster)
Insecta CG7616 30 31
  • 56.66 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP006050 30
  • 55.92 (n)
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes -- 31
  • 24 (a)
OneToMany
Bread mold
(Neurospora crassa)
Ascomycetes NCU01997 30
  • 46.78 (n)
Fission Yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPAC10F6.14c 30
  • 39.58 (n)
Species where no ortholog for ADCK5 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • 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)
  • 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 ADCK5 Gene

ENSEMBL:
Gene Tree for ADCK5 (if available)
TreeFam:
Gene Tree for ADCK5 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for ADCK5: view image

Paralogs for ADCK5 Gene

Paralogs for ADCK5 Gene

(22) SIMAP similar genes for ADCK5 Gene using alignment to 4 proteins:

  • ADCK5_HUMAN
  • E9PJ20_HUMAN
  • E9PLF3_HUMAN
  • R4GN53_HUMAN
genes like me logo Genes that share paralogs with ADCK5: view

Variants for ADCK5 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ADCK5 Gene

SNP ID Clinical significance and condition Chr 08 pos Variation AA Info Type
rs6599528 - p.Ser17Arg

Additional dbSNP identifiers (rs#s) for ADCK5 Gene

Structural Variations from Database of Genomic Variants (DGV) for ADCK5 Gene

Variant ID Type Subtype PubMed ID
dgv12434n54 CNV loss 21841781
dgv12437n54 CNV loss 21841781
esv1030070 CNV insertion 17803354
esv1578252 CNV insertion 17803354
esv2759652 CNV gain+loss 17122850
nsv1076126 CNV deletion 25765185
nsv428208 CNV gain 18775914
nsv470249 CNV loss 18288195
nsv515809 CNV gain+loss 19592680
nsv612934 CNV loss 21841781
nsv824805 CNV gain 20364138
nsv831489 CNV loss 17160897

Variation tolerance for ADCK5 Gene

Residual Variation Intolerance Score: 72.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.29; 25.62% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ADCK5 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
ADCK5

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ADCK5 Gene

Disorders for ADCK5 Gene

MalaCards: The human disease database

(1) MalaCards diseases for ADCK5 Gene - From: DISEASES

Disorder Aliases PubMed IDs
optic atrophy 11
  • opa11
- elite association - COSMIC cancer census association via MalaCards
Search ADCK5 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for ADCK5

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with ADCK5: view

No data available for UniProtKB/Swiss-Prot and Genatlas for ADCK5 Gene

Publications for ADCK5 Gene

  1. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson SL … O'Brien SJ (PloS one 2010) 3 41
  2. DNA sequence and analysis of human chromosome 8. (PMID: 16421571) Nusbaum C … Lander ES (Nature 2006) 3 4
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4
  4. 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
  5. Extensive disruption of protein interactions by genetic variants across the allele frequency spectrum in human populations. (PMID: 31515488) Fragoza R … Yu H (Nature communications 2019) 3

Products for ADCK5 Gene

  • Boster Bio Antibodies for ADCK5
  • Boster Bio ELISA Kits for ADCK5

Sources for ADCK5 Gene