This gene encodes a nuclear protein that interacts with protein kinase A catalytic subunit, and regulates the effect of the cAMP-dependent protein kinase signaling pathway on the NF-kappa-B activation cascade. Alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Oct 2011] See more...

Aliases for AKIP1 Gene

Aliases for AKIP1 Gene

  • A-Kinase Interacting Protein 1 2 3 5
  • A Kinase (PRKA) Interacting Protein 1 2 3
  • A-Kinase-Interacting Protein 1 3 4
  • Proline-Rich Protein BCA3 3 4
  • C11orf17 3 4
  • BCA3 3 4
  • Breast Cancer-Associated Gene 3 Protein 4
  • Chromosome 11 Open Reading Frame 17 2
  • Breast Cancer Associated Gene 3 3
  • PKA-Interacting Protein 4
  • Koyt Binding Protein 1 3
  • Koyt Binding Protein 2 3
  • Koyt Binding Protein 3 3

External Ids for AKIP1 Gene

Previous HGNC Symbols for AKIP1 Gene

  • C11orf17

Previous GeneCards Identifiers for AKIP1 Gene

  • GC11P008932

Summaries for AKIP1 Gene

Entrez Gene Summary for AKIP1 Gene

  • This gene encodes a nuclear protein that interacts with protein kinase A catalytic subunit, and regulates the effect of the cAMP-dependent protein kinase signaling pathway on the NF-kappa-B activation cascade. Alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Oct 2011]

GeneCards Summary for AKIP1 Gene

AKIP1 (A-Kinase Interacting Protein 1) is a Protein Coding gene. Diseases associated with AKIP1 include Osteogenesis Imperfecta, Type Xvii and Breast Cancer.

UniProtKB/Swiss-Prot Summary for AKIP1 Gene

  • Enhances NF-kappa-B transcriptional activity by regulating the nuclear localization of the NF-kappa-B subunit RELA and promoting the phosphorylation of RELA by PRKACA. Regulates the effect of the cAMP-dependent protein kinase signaling pathway on the NF-kappa-B activation cascade.

Additional gene information for AKIP1 Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for AKIP1 Gene

Genomics for AKIP1 Gene

GeneHancer (GH) Regulatory Elements for AKIP1 Gene

Promoters and enhancers for AKIP1 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 AKIP1 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for AKIP1

Genomic Locations for AKIP1 Gene

Genomic Locations for AKIP1 Gene
chr11:8,911,118-8,920,084
(GRCh38/hg38)
Size:
8,967 bases
Orientation:
Plus strand
chr11:8,932,686-8,941,631
(GRCh37/hg19)
Size:
8,946 bases
Orientation:
Plus strand

Genomic View for AKIP1 Gene

Genes around AKIP1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
AKIP1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for AKIP1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for AKIP1 Gene

Proteins for AKIP1 Gene

  • Protein details for AKIP1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9NQ31-AKIP1_HUMAN
    Recommended name:
    A-kinase-interacting protein 1
    Protein Accession:
    Q9NQ31
    Secondary Accessions:
    • Q8NBS2
    • Q8TAC6
    • Q8TAD3
    • Q8TAE0

    Protein attributes for AKIP1 Gene

    Size:
    210 amino acids
    Molecular mass:
    23114 Da
    Quaternary structure:
    • Interacts with PRKACA and RELA.

    Alternative splice isoforms for AKIP1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for AKIP1 Gene

Post-translational modifications for AKIP1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for AKIP1 Gene

Domains & Families for AKIP1 Gene

Gene Families for AKIP1 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for AKIP1 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for AKIP1 Gene

GenScript: Design optimal peptide antigens:
  • Proline-rich protein BCA3 (AKIP1_HUMAN)
  • cDNA FLJ55419, highly similar to Proline-rich protein BCA3 (B4DGE2_HUMAN)
genes like me logo Genes that share domains with AKIP1: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for AKIP1 Gene

Function for AKIP1 Gene

Molecular function for AKIP1 Gene

UniProtKB/Swiss-Prot Function:
Enhances NF-kappa-B transcriptional activity by regulating the nuclear localization of the NF-kappa-B subunit RELA and promoting the phosphorylation of RELA by PRKACA. Regulates the effect of the cAMP-dependent protein kinase signaling pathway on the NF-kappa-B activation cascade.

Phenotypes From GWAS Catalog for AKIP1 Gene

Gene Ontology (GO) - Molecular Function for AKIP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 15630084
genes like me logo Genes that share ontologies with AKIP1: view
genes like me logo Genes that share phenotypes with AKIP1: view

Animal Models for AKIP1 Gene

MGI Knock Outs for AKIP1:
  • Akip1 Akip1<tm1.1(KOMP)Vlcg>

Animal Model Products

CRISPR Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for AKIP1 Gene

Localization for AKIP1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for AKIP1 Gene

Nucleus. Note=Locates to punctate spots.

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 AKIP1 gene
Compartment Confidence
nucleus 5
plasma membrane 1
extracellular 1
cytoskeleton 1
mitochondrion 1
cytosol 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for AKIP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005654 nucleoplasm IDA --
genes like me logo Genes that share ontologies with AKIP1: view

Pathways & Interactions for AKIP1 Gene

PathCards logo

SuperPathways for AKIP1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for AKIP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0034446 substrate adhesion-dependent cell spreading IEA --
GO:1901222 regulation of NIK/NF-kappaB signaling IEA --
genes like me logo Genes that share ontologies with AKIP1: view

No data available for Pathways by source and SIGNOR curated interactions for AKIP1 Gene

Drugs & Compounds for AKIP1 Gene

No Compound Related Data Available

Transcripts for AKIP1 Gene

mRNA/cDNA for AKIP1 Gene

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

CRISPR Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for AKIP1 Gene

ExUns: 1a · 1b ^ 2a · 2b · 2c · 2d ^ 3 ^ 4 ^ 5a · 5b ^ 6a · 6b · 6c · 6d
SP1: - - -
SP2: - - - -
SP3:
SP4: - -
SP5: - - -
SP6: -

Relevant External Links for AKIP1 Gene

GeneLoc Exon Structure for
AKIP1

Expression for AKIP1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for AKIP1 Gene

Protein differential expression in normal tissues from HIPED for AKIP1 Gene

This gene is overexpressed in CD8 Tcells (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for AKIP1 Gene



Protein tissue co-expression partners for AKIP1 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for AKIP1

SOURCE GeneReport for Unigene cluster for AKIP1 Gene:

Hs.131180

mRNA Expression by UniProt/SwissProt for AKIP1 Gene:

Q9NQ31-AKIP1_HUMAN
Tissue specificity: Expressed at high levels in adult heart and at lower levels in brain, testis, ovary and skeletal muscle. Up-regulated in some breast cancer cell lines. Isoform 1 and isoform 3 are expressed in fetal brain.

Evidence on tissue expression from TISSUES for AKIP1 Gene

  • Kidney(4.2)
  • Lymph node(4.2)
genes like me logo Genes that share expression patterns with AKIP1: 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 AKIP1 Gene

Orthologs for AKIP1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for AKIP1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia AKIP1 31 30
  • 99.37 (n)
OneToOne
cow
(Bos Taurus)
Mammalia AKIP1 31 30
  • 85.43 (n)
OneToOne
dog
(Canis familiaris)
Mammalia AKIP1 31 30
  • 83.67 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Akip1 17 31 30
  • 78.95 (n)
rat
(Rattus norvegicus)
Mammalia Akip1 30
  • 78.95 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia AKIP1 31
  • 38 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia AKIP1 31
  • 30 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii AKIP1 31
  • 35 (a)
OneToOne
Species where no ortholog for AKIP1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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)
  • 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)
  • 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)
  • 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 squirt (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 AKIP1 Gene

ENSEMBL:
Gene Tree for AKIP1 (if available)
TreeFam:
Gene Tree for AKIP1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for AKIP1: view image

Paralogs for AKIP1 Gene

Pseudogenes.org Pseudogenes for AKIP1 Gene

genes like me logo Genes that share paralogs with AKIP1: view

No data available for Paralogs for AKIP1 Gene

Variants for AKIP1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for AKIP1 Gene

SNP ID Clinical significance and condition Chr 11 pos Variation AA Info Type
rs1133833 - p.Arg23Lys
rs35131475 - p.Ile132Thr

Additional dbSNP identifiers (rs#s) for AKIP1 Gene

Structural Variations from Database of Genomic Variants (DGV) for AKIP1 Gene

Variant ID Type Subtype PubMed ID
esv2759803 CNV gain 17122850
nsv435923 CNV deletion 17901297
nsv499766 OTHER inversion 21111241
nsv7215 OTHER inversion 18451855
nsv832062 CNV loss 17160897

Variation tolerance for AKIP1 Gene

Residual Variation Intolerance Score: 72.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.87; 74.12% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for AKIP1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
AKIP1

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for AKIP1 Gene

Disorders for AKIP1 Gene

MalaCards: The human disease database

(2) MalaCards diseases for AKIP1 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
osteogenesis imperfecta, type xvii
  • oi17
breast cancer
  • breast cancer, familial
- elite association - COSMIC cancer census association via MalaCards
Search AKIP1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for AKIP1

genes like me logo Genes that share disorders with AKIP1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for AKIP1 Gene

Publications for AKIP1 Gene

  1. A-kinase-interacting protein 1 (AKIP1) acts as a molecular determinant of PKA in NF-kappaB signaling. (PMID: 20562110) Gao N … Okamoto T (The Journal of biological chemistry 2010) 2 3 4 54
  2. AKIP1 enhances NF-kappaB-dependent gene expression by promoting the nuclear retention and phosphorylation of p65. (PMID: 18178962) Gao N … Okamoto T (The Journal of biological chemistry 2008) 2 3 4 54
  3. A-kinase-interacting protein localizes protein kinase A in the nucleus. (PMID: 15630084) Sastri M … Taylor SS (Proceedings of the National Academy of Sciences of the United States of America 2005) 2 3 4 54
  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 54
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 54

Products for AKIP1 Gene

Sources for AKIP1 Gene