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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

AKIP1 Gene

protein-coding   GIFtS: 44
GCID: GC11P008932

A Kinase (PRKA) Interacting Protein 1

(Previous name: chromosome 11 open reading frame 17)
(Previous symbol: C11orf17)
  See related disease
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
A Kinase (PRKA) Interacting Protein 11 2     Breast Cancer Associated Gene 32
C11orf171 2 3 5     Koyt Binding Protein 12
BCA32 3 5     Koyt Binding Protein 22
Proline-Rich Protein BCA32 3     Koyt Binding Protein 32
Chromosome 11 Open Reading Frame 171     Breast Cancer-Associated Gene 3 Protein3
A-Kinase-Interacting Protein 12     PKA-Interacting Protein3

External Ids:    HGNC: 11701   Entrez Gene: 566722   Ensembl: ENSG000001664527   OMIM: 6091915   UniProtKB: Q9NQ313   

Export aliases for AKIP1 gene to outside databases


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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 (PRKA) interacting protein 1) is a protein-coding gene. Diseases associated with AKIP1 include breast cancer. GO annotations related to this gene include protein binding.

UniProtKB/Swiss-Prot: AKIP1_HUMAN, Q9NQ31
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




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000011.9  NC_018922.2  NT_009237.18  
Regulatory elements:
   Search SABiosciences Regulatory transcription factor binding sites for AKIP1
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidAKIP1 promoter sequence
   Search SABiosciences Chromatin IP Primers for AKIP1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat AKIP1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 11p15.3   Ensembl cytogenetic band:  11p15.4   HGNC cytogenetic band: 11p15.3

AKIP1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
AKIP1 gene location

GeneLoc information about chromosome 11         GeneLoc Exon Structure

GeneLoc location for GC11P008932:  view genomic region     (about GC identifiers)

Start:
8,932,686 bp from pter      End:
8,941,631 bp from pter
Size:
8,946 bases      Orientation:
plus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: AKIP1_HUMAN, Q9NQ31 (See protein sequence)
Recommended Name: A-kinase-interacting protein 1  
Size: 210 amino acids; 23114 Da
Subunit: Interacts with PRKACA and RELA
Subcellular location: Nucleus. Note=Locates to punctate spots
Secondary accessions: Q8NBS2 Q8TAC6 Q8TAD3 Q8TAE0
Alternative splicing: 3 isoforms:  Q9NQ31-1   Q9NQ31-2   Q9NQ31-3   

Explore the universe of human proteins at neXtProt for AKIP1: NX_Q9NQ31

Explore proteomics data for AKIP1 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q9NQ31

  • AKIP1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    AKIP1 Protein Expression
    REFSEQ proteins (4 alternative transcripts): 
    NP_001193575.1  NP_001193576.1  NP_001193577.1  NP_065693.2  

    ENSEMBL proteins: 
     ENSP00000299576   ENSP00000310459   ENSP00000310644   ENSP00000434726   ENSP00000433510  
     ENSP00000434785   ENSP00000434820   ENSP00000436989   ENSP00000379885   ENSP00000431331  
     ENSP00000431602  

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    Gene Ontology (GO): 1 cellular component term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IEA--

    AKIP1 for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    ProtoNet protein and cluster: Q9NQ31


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: AKIP1_HUMAN, Q9NQ31
    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

         Gene Ontology (GO): 1 molecular function term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI15630084
         
    AKIP1 for ontologies           About GeneDecksing


    Phenotypes:
         2 GenomeRNAi human phenotypes for AKIP1:
     Increased S DNA content  Increased gamma-H2AX phosphory 

    Animal Models:
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    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for AKIP1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 7)

    5/7 Interacting proteins for AKIP1 (Q9NQ311, 3 ENSP000003104594) via UniProtKB, MINT, STRING, and/or I2D (see all 7)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    PRKACAP176121, 3, ENSP000003095914EBI-517035,EBI-476586 I2D: score=2 STRING: ENSP00000309591
    SIRT1Q96EB63, ENSP000002120154I2D: score=1 STRING: ENSP00000212015
    SENP8Q96LD83, ENSP000003405054I2D: score=1 STRING: ENSP00000340505
    NEDD8Q158433, ENSP000002504954I2D: score=1 STRING: ENSP00000250495
    RELAQ042063, ENSP000003842734I2D: score=1 STRING: ENSP00000384273
    About this table

    Gene Ontology (GO): 1 biological process term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0034446substrate adhesion-dependent cell spreading IEA--

    AKIP1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for AKIP1

    Search CenterWatch for drugs/clinical trials and news about AKIP1

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
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    About This Section

    REFSEQ mRNAs for AKIP1 gene (6 alternative transcripts): 
    NM_001206646.1  NM_001206647.1  NM_001206648.1  NM_020642.3  NM_001206645.1  NM_182901.3  

    Unigene Cluster for AKIP1:

    A kinase (PRKA) interacting protein 1
    Hs.131180  [show with all ESTs]
    Unigene Representative Sequence: AK075308
    11 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000299576(uc001mgy.3 uc021qdi.1) ENST00000309377(uc001mgx.3 uc001mha.3)
    ENST00000309357(uc001mgz.3 uc021qdh.1) ENST00000529876(uc010rbr.2 uc010rbs.2)
    ENST00000525005 ENST00000524577 ENST00000534506 ENST00000530281 ENST00000396648
    ENST00000534147 ENST00000529942
    miRNA
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    Inhib. RNA
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    Additional mRNA sequence: 

    AF493783.1 AF493784.1 AF493785.1 AF512007.1 AK075308.1 AK294506.1 AK294549.1 BC030996.2 
    NR_045417.1 NR_045418.1 

    14 DOTS entries:

    DT.95173005  DT.100036131  DT.99927411  DT.95288494  DT.100814943  DT.405560  DT.99948067  DT.92422103 
    DT.102836091  DT.40128672  DT.40130914  DT.91853396  DT.92025857  DT.95158344 

    24/71 AceView cDNA sequences (see all 71):

    AI470978 AI933861 AI692778 NM_020642 AF493784 AI769232 CA430307 AF493785 
    AI472290 AW340643 AI418249 BI256804 BP355293 AI360308 BM763534 BU734702 
    BM759108 BI160019 AF493783 BM449949 BX099185 BP346582 AA843864 CB148674 

    GeneLoc Exon Structure

    5/6 Alternative Splicing Database (ASD) splice patterns (SP) for AKIP1 (see all 6)    About this scheme

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


    ECgene alternative splicing isoforms for AKIP1

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    AKIP1 expression in normal human tissues (normalized intensities)      AKIP1 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    AKIP1 Expression
    About this image


    AKIP1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/3 selected tissues (see all 3) fully expand
     
     Gut Tube (Gastrointestinal Tract)
             Definitive endoderm-like cells ( A scalable, suspension protocol for derivation of...
     
     Uterus (Reproductive System)
             endometrial endothelial cell   
     
     Thyroid (Endocrine System)

    See AKIP1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for AKIP1

    SOURCE GeneReport for Unigene cluster: Hs.131180

    UniProtKB/Swiss-Prot: AKIP1_HUMAN, Q9NQ31
    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

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    In Situ
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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of chordates.

    Orthologs for AKIP1 gene from 2/8 species (see all 8)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Akip11 , 5 RIKEN cDNA D930014E17 gene5
    A kinase (PRKA) interacting protein 11
    78.95(n)1
    72.73(a)1
      7 (57.44 cM)5
    573731  NM_020616.11  NP_065641.11 
     1097036905 
    zebrafish
    (Danio rerio)
    Actinopterygii AKIP16
    A kinase (PRKA) interacting protein 1
    35(a)
    1 ↔ 1
    18(16609892-16613146)


    ENSEMBL Gene Tree for AKIP1 (if available)
    TreeFam Gene Tree for AKIP1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for AKIP1 gene

    AKIP1 for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for AKIP1
    PGOHUM00000243292


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/184 SNPs in AKIP1 are shown (see all 184)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 11 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0215654
    ----see VAR_0215652 R K mis40--------
    rs1490003101,2
    C--8607894(+) GGTCTC/TGATCT 6 -- int10--------
    rs1896450791,2
    --8607962(+) CCCACC/TGCGCC 6 -- int10--------
    rs1482804691,2
    C--8608110(+) GGCCC-/CTGTCTT 6 -- int10--------
    rs1807947741,2
    --8608157(+) GGGGAC/TGGGGG 6 -- int10--------
    rs756525731,2
    F--8608205(+) AGTTAC/TGGGCC 6 -- int11Minor allele frequency- T:0.01NA 120
    rs755754471,2
    C--8608224(+) CAAACG/TTACCT 6 -- int10--------
    rs745433491,2
    F--8608350(+) CCCTAC/TTTGTA 6 -- int11Minor allele frequency- T:0.03NA 120
    rs110421251,2
    C,F,H--8608355(+) CTTGTA/TCTCAA 6 -- int127Minor allele frequency- T:0.27NS EA NA CSA WA 2765
    rs1429328271,2
    --8608395(+) CCAGAC/GTCTAA 6 -- int10--------

    HapMap Linkage Disequilibrium report for AKIP1 (8932686 - 8941631 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 5 variations for AKIP1:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv435923CNV Deletion17901297
    nsv832062CNV Loss17160897
    essv24306CNV CNV17122850
    nsv499766OTHER Inversion21111241
    nsv7215OTHER Inversion18451855

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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 609191    OMIM disorders: --

    2 diseases for AKIP1:    About MalaCards
    breast cancer    


    AKIP1 for disorders           About GeneDecksing


    Export disorders for AKIP1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for AKIP1 gene, integrated from 9 sources (see all 20):
    (articles sorted by number of sources associating them with AKIP1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. A-kinase-interacting protein 1 (AKIP1) acts as a mole cular determinant of PKA in NF-kappaB signaling. (PubMed id 20562110)1, 2, 3 Gao N....Okamoto T. (2010)
    2. AKIP1 enhances NF-kappaB-dependent gene expression by promoting the nuclear retention and phosphorylation of p65. (PubMed id 18178962)1, 2, 3 Gao N....Okamoto T. (2008)
    3. A-kinase-interacting protein localizes protein kinase A in the nucleus. (PubMed id 15630084)1, 2, 3 Sastri M.... Taylor S.S. (2005)
    4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    6. Characterization of a novel human breast cancer associated gene (BCA3) encoding an alternatively spliced proline-rich protein. (PubMed id 12527432)1, 2 Kitching R.... Seth A. (2003)
    7. Comparative genomic sequencing reveals a strikingly similar architecture of a conserved syntenic region on human chromosome 11p15.3 (including gene ST5) and mouse chromosome 7. (PubMed id 11528127)1, 2 Amid C.... Schmidt E.R. (2001)
    8. A kinase interacting protein (AKIP1) is a key regulato r of cardiac stress. (PubMed id 23319652)1 Sastri M....Taylor S.S. (2013)
    9. Charting the landscape of tandem BRCT domain-mediated protein interactions. (PubMed id 22990118)1 Woods N.T....Monteiro A.N. (2012)
    10. Variation at the NFATC2 locus increases the risk of t hiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipr il and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1 Bailey S.D....Anand S. (2010)

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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 56672 HGNC: 1170 AceView: C11orf17 Ensembl:ENSG00000166452 euGenes: HUgn56672
    ECgene: AKIP1 H-InvDB: AKIP1

    (According to HUGE)
    About This Section
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    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
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    About This Section
    NameDescription
    PharmGKB entry for AKIP1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
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    Patent Information for AKIP1 gene:
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