Aliases for AKAIN1 Gene

Aliases for AKAIN1 Gene

  • A-Kinase Anchor Inhibitor 1 2 3 5
  • A-Kinase Anchor Protein Inhibitor 1 3 4
  • A Kinase (PRKA) Anchor Inhibitor 1 2 3
  • C18orf42 3 4
  • Chromosome 18 Open Reading Frame 42 2
  • A-Kinase Anchor Protein C18orf42 3
  • AKAIN1 5

External Ids for AKAIN1 Gene

Previous HGNC Symbols for AKAIN1 Gene

  • C18orf42

Summaries for AKAIN1 Gene

GeneCards Summary for AKAIN1 Gene

AKAIN1 (A-Kinase Anchor Inhibitor 1) is a Protein Coding gene. An important paralog of this gene is AKAP7.

UniProtKB/Swiss-Prot Summary for AKAIN1 Gene

  • Protein kinase A (PKA)-binding protein. Binds to type II regulatory subunits of protein kinase A (PKA) and may block the A-kinase anchoring protein (AKAP)-mediated subcellular localization of PKA (PubMed:25653177).

Additional gene information for AKAIN1 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for AKAIN1 Gene

Genomics for AKAIN1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for AKAIN1 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
GH18J005197 Promoter/Enhancer 1.1 Ensembl ENCODE 600.7 +0.7 651 0.6 REST TFE3 NFKBIZ EZH2 ZBTB26 MBD1 MIER1 EHMT2 ZSCAN9 ZNF792 AKAIN1 ENSG00000285575 ENSG00000266153 DLGAP1
GH18J005293 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 10.5 -98.7 -98722 5.8 BRCA1 RNF2 SP1 HNRNPL CREB1 GATAD2A PRDM10 TFE3 SOX13 IKZF1 ZBTB14 lnc-ARHGAP28-18 LINC00667 AKAIN1 lnc-AKAIN1-4
GH18J005236 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas 11.1 -41.3 -41300 4.5 SP1 HNRNPL CREB1 GATAD2A TEAD4 PRDM10 ZNF629 NFKBIZ ZNF692 POLR2A LINC00667 LINC00526 ENSG00000265091 piR-51821 AKAIN1 ENSG00000265188 LOC100422274 lnc-AKAIN1-3 ZBTB14
GH18J005417 Promoter/Enhancer 0.8 Ensembl ENCODE 9.5 -220.0 -219969 0.8 CEBPA CEBPB SPI1 NFIL3 POLR2A HLF CEBPG EPB41L3 AKAIN1 lnc-ZBTB14-1 ENSG00000266288 ZBTB14 LOC100286986
GH18J005158 Enhancer 0.6 Ensembl ENCODE 12.4 +38.4 38351 3.6 KDM1A CREB1 NFIB ENSG00000266153 AKAIN1 BOD1P2 ENSG00000285575 DLGAP1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around AKAIN1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for AKAIN1

Genomic Locations for AKAIN1 Gene

Genomic Locations for AKAIN1 Gene
chr18:5,142,911-5,197,752
(GRCh38/hg38)
Size:
54,842 bases
Orientation:
Minus strand
chr18:5,143,672-5,197,502
(GRCh37/hg19)
Size:
53,831 bases
Orientation:
Minus strand

Genomic View for AKAIN1 Gene

Genes around AKAIN1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
AKAIN1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for AKAIN1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for AKAIN1 Gene

Proteins for AKAIN1 Gene

  • Protein details for AKAIN1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P0CW23-AKAI1_HUMAN
    Recommended name:
    A-kinase anchor protein inhibitor 1
    Protein Accession:
    P0CW23

    Protein attributes for AKAIN1 Gene

    Size:
    69 amino acids
    Molecular mass:
    7848 Da
    Quaternary structure:
    • Binds cAMP-dependent protein kinase (PKA). Interacts specifically with RII-regulatory subunits of PKA (PRKAR2A and PRKAR2B) (PubMed:25653177).

neXtProt entry for AKAIN1 Gene

Post-translational modifications for AKAIN1 Gene

No Post-translational modifications

Other Protein References for AKAIN1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for AKAIN1 Gene

Domains & Families for AKAIN1 Gene

Gene Families for AKAIN1 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for AKAIN1 Gene

InterPro:
ProtoNet:

Graphical View of Domain Structure for InterPro Entry

P0CW23

UniProtKB/Swiss-Prot:

AKAI1_HUMAN :
  • The RII-alpha binding site, predicted to form an amphipathic helix, could participate in protein-protein interactions with a complementary surface on the R-subunit dimer.
Domain:
  • The RII-alpha binding site, predicted to form an amphipathic helix, could participate in protein-protein interactions with a complementary surface on the R-subunit dimer.
genes like me logo Genes that share domains with AKAIN1: view

No data available for Suggested Antigen Peptide Sequences for AKAIN1 Gene

Function for AKAIN1 Gene

Molecular function for AKAIN1 Gene

UniProtKB/Swiss-Prot Function:
Protein kinase A (PKA)-binding protein. Binds to type II regulatory subunits of protein kinase A (PKA) and may block the A-kinase anchoring protein (AKAP)-mediated subcellular localization of PKA (PubMed:25653177).

Phenotypes From GWAS Catalog for AKAIN1 Gene

Gene Ontology (GO) - Molecular Function for AKAIN1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0051018 protein kinase A binding IDA 25653177
genes like me logo Genes that share ontologies with AKAIN1: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for AKAIN1

No data available for Enzyme Numbers (IUBMB) , Phenotypes , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for AKAIN1 Gene

Localization for AKAIN1 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 AKAIN1 gene
Compartment Confidence
cytosol 3
nucleus 1
peroxisome 0

Gene Ontology (GO) - Cellular Components for AKAIN1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005829 cytosol IEA --
genes like me logo Genes that share ontologies with AKAIN1: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Subcellular locations from the Human Protein Atlas (HPA) for AKAIN1 Gene

Pathways & Interactions for AKAIN1 Gene

PathCards logo

SuperPathways for AKAIN1 Gene

No Data Available

Interacting Proteins for AKAIN1 Gene

STRING Interaction Network Preview (showing top 1 STRING interactants - click image to see details)
STRING Interaction Network
Selected Interacting proteins: P0CW23-AKAI1_HUMAN ENSP00000399075 for AKAIN1 Gene via UniProtKB STRING

Gene Ontology (GO) - Biological Process for AKAIN1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008104 protein localization IDA 25653177
GO:0031333 negative regulation of protein complex assembly IEA --
genes like me logo Genes that share ontologies with AKAIN1: view

No data available for Pathways by source and SIGNOR curated interactions for AKAIN1 Gene

Drugs & Compounds for AKAIN1 Gene

No Compound Related Data Available

Transcripts for AKAIN1 Gene

mRNA/cDNA for AKAIN1 Gene

2 REFSEQ mRNAs :
3 NCBI additional mRNA sequence :
2 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 AKAIN1

Alternative Splicing Database (ASD) splice patterns (SP) for AKAIN1 Gene

No ASD Table

Relevant External Links for AKAIN1 Gene

GeneLoc Exon Structure for
AKAIN1

Expression for AKAIN1 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for AKAIN1

mRNA Expression by UniProt/SwissProt for AKAIN1 Gene:

P0CW23-AKAI1_HUMAN
Tissue specificity: Preferentially expressed in the neural tissues (PubMed:25653177).

Evidence on tissue expression from TISSUES for AKAIN1 Gene

  • Nervous system(4.1)

No data available for mRNA expression in normal human tissues , mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for AKAIN1 Gene

Orthologs for AKAIN1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for AKAIN1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia C18H18orf42 30
  • 99.03 (n)
C18orf42 31
  • 97 (a)
OneToOne
Dog
(Canis familiaris)
Mammalia C18orf42 31
  • 88 (a)
OneToOne
Mouse
(Mus musculus)
Mammalia A330050F15Rik 30 31
  • 79.71 (n)
OneToOne
Akain1 17
Rat
(Rattus norvegicus)
Mammalia LOC100362606 30
  • 79.23 (n)
Chicken
(Gallus gallus)
Aves C18orf42 31
  • 72 (a)
OneToOne
Species where no ortholog for AKAIN1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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)
  • Cow (Bos Taurus)
  • 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)
  • Lizard (Anolis carolinensis)
  • 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 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)
  • Zebrafish (Danio rerio)

Evolution for AKAIN1 Gene

ENSEMBL:
Gene Tree for AKAIN1 (if available)
TreeFam:
Gene Tree for AKAIN1 (if available)

Paralogs for AKAIN1 Gene

Paralogs for AKAIN1 Gene

genes like me logo Genes that share paralogs with AKAIN1: view

Variants for AKAIN1 Gene

Additional dbSNP identifiers (rs#s) for AKAIN1 Gene

Structural Variations from Database of Genomic Variants (DGV) for AKAIN1 Gene

Variant ID Type Subtype PubMed ID
dgv184n21 CNV gain 19592680
dgv3317n100 CNV gain 25217958
esv2670046 CNV deletion 23128226
esv3641645 CNV loss 21293372
esv3641646 CNV loss 21293372
nsv1066095 CNV gain 25217958
nsv476958 CNV novel sequence insertion 20440878
nsv523963 CNV loss 19592680

Variation tolerance for AKAIN1 Gene

Gene Damage Index Score: 0.30; 6.59% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for AKAIN1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
AKAIN1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for AKAIN1 Gene

Disorders for AKAIN1 Gene

No disorders were found for AKAIN1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for AKAIN1 Gene

Publications for AKAIN1 Gene

  1. Hypothetical gene C18orf42 encodes a novel protein kinase A-binding protein. (PMID: 25653177) Fukuda M … Aizawa Y (Genes to cells : devoted to molecular & cellular mechanisms 2015) 2 3 4
  2. A reference map of the human binary protein interactome. (PMID: 32296183) Luck K … Calderwood MA (Nature 2020) 3
  3. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PMID: 16344560) Kimura K … Sugano S (Genome research 2006) 3
  4. DNA sequence and analysis of human chromosome 18. (PMID: 16177791) Nusbaum C … Lander ES (Nature 2005) 4
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 4

Products for AKAIN1 Gene

Sources for AKAIN1 Gene