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AKAP14 Gene

protein-coding   GIFtS: 44
GCID: GC0XP119029

A Kinase (PRKA) Anchor Protein 14

  Search for AKAP14
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
A Kinase (PRKA) Anchor Protein 141 2     A-Kinase Anchor Protein 28 KDa2 3
AKAP282 3 5     AKAP 282 3
Protein Kinase A-Anchoring Protein 142 3     A-Kinase Anchor Protein 142
AKAP-142 3     A-Kinase Anchoring Protein 282
PRKA142 3     

External Ids:    HGNC: 240611   Entrez Gene: 1587982   Ensembl: ENSG000001864717   OMIM: 3004625   UniProtKB: Q86UN63   

Export aliases for AKAP14 gene to outside databases

Previous GC identifers: GC0XP118811 GC0XP118913 GC0XP108526


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for AKAP14 Gene:
The A-kinase anchor proteins (AKAPs) are a group of structurally diverse proteins, which have the common function
of binding to the regulatory subunit of protein kinase A (PKA) and confining the holoenzyme to discrete locations
within the cell. This gene encodes a member of the AKAP family. The protein anchors PKA in ciliary axonemes and,
in this way, may play a role in regulating ciliary beat frequency. Alternate transcriptional splice variants,
encoding different isoforms, have been characterized. (provided by RefSeq, Jul 2008)

GeneCards Summary for AKAP14 Gene:
AKAP14 (A kinase (PRKA) anchor protein 14) is a protein-coding gene. GO annotations related to this gene include protein kinase A binding.

UniProtKB/Swiss-Prot: AKA28_HUMAN, Q86UN6
Function: Binds to type II regulatory subunits of protein kinase A and anchors/targets them




(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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000023.11  NC_018934.2  NT_011786.17  
Regulatory elements:
   Regulatory transcription factor binding sites in the AKAP14 gene promoter:
         Sox5   FOXF2   FOXO3   FOXD1   FOXO3b   FOXL1   HFH-1   FOXJ2 (long isoform)   FOXO3a   FOXJ2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidAKAP14 promoter sequence
   Search Chromatin IP Primers for AKAP14

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat AKAP14


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

Entrez Gene cytogenetic band: Xq24   Ensembl cytogenetic band:  Xq24   HGNC cytogenetic band: Xq24

AKAP14 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
AKAP14 gene location

GeneLoc information about chromosome X         GeneLoc Exon Structure

GeneLoc location for GC0XP119029:  view genomic region     (about GC identifiers)

Start:
119,029,800 bp from pter      End:
119,054,679 bp from pter
Size:
24,880 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: AKA28_HUMAN, Q86UN6 (See protein sequence)
Recommended Name: A-kinase anchor protein 14  
Size: 197 amino acids; 22815 Da
Subunit: Binds to type II regulatory subunits (RII)
Secondary accessions: Q86UN4 Q86UN5
Alternative splicing: 3 isoforms:  Q86UN6-1   Q86UN6-2   Q86UN6-3   

Explore the universe of human proteins at neXtProt for AKAP14: NX_Q86UN6

Explore proteomics data for AKAP14 at MOPED


See AKAP14 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

REFSEQ proteins (3 alternative transcripts): 
NP_001008534.1  NP_001008535.1  NP_848928.1  

ENSEMBL proteins: 
 ENSP00000360485   ENSP00000360476   ENSP00000334680   ENSP00000360477   ENSP00000360479  
 ENSP00000378094  

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(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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HGNC Gene Families:
AKAP: A-kinase anchor proteins

1 InterPro protein domain:
 IPR025663 AKAP_28

Graphical View of Domain Structure for InterPro Entry Q86UN6

ProtoNet protein and cluster: Q86UN6


AKAP14 for domains           About GeneDecksing


(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,
transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Molecular Function:

     UniProtKB/Swiss-Prot Summary: AKA28_HUMAN, Q86UN6
Function: Binds to type II regulatory subunits of protein kinase A and anchors/targets them

     Gene Ontology (GO): 1 molecular function term:    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0051018protein kinase A binding IEA--
     
AKAP14 for ontologies           About GeneDecksing


Phenotypes:
     2 GenomeRNAi human phenotypes for AKAP14:
 Gemcitabine induced cell-death  Upregulation of NF-kappaB path 

Animal Models:
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(According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Subcellular locations from UniProtKB/Swiss-Prot
AKA28_HUMAN, Q86UN6: Cytoplasm (Probable)
Subcellular locations from COMPARTMENTS: 

CompartmentConfidence
cytosol3
nucleus2

Gene Ontology (GO): 1 cellular component term:    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0005737cytoplasm IEA--

AKAP14 for ontologies           About GeneDecksing


(SuperPaths according to PathCards, Pathways according to 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 QIAGEN, 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 Apr 2014 via Entrez Gene).
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    Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for AKAP14
Interactions:

    Search GeneGlobe Interaction Network for AKAP14

STRING Interaction Network Preview (showing 4 interactants - click image to see more details)

4 Interacting proteins for AKAP14 (Q86UN63 ENSP000003604854) via UniProtKB, MINT, STRING, and/or I2D
InteractantInteraction Details
GeneCardExternal ID(s)
PRKAR2AP138613, ENSP000002655634I2D: score=2 STRING: ENSP00000265563
MYCBPQ994173, ENSP000003807024I2D: score=1 STRING: ENSP00000380702
PRKACAP176123, ENSP000003095914I2D: score=1 STRING: ENSP00000309591
PRKAR2BP313233, ENSP000002657174I2D: score=1 STRING: ENSP00000265717
About this table

Gene Ontology (GO): 1 biological process term:    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0007283spermatogenesis IEA--

AKAP14 for ontologies           About GeneDecksing



(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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Browse Small Molecules at EMD Millipore
   Browse drugs & compounds from Enzo Life Sciences
  Browse compounds at ApexBio 

Browse Tocris compounds for AKAP14 (AKA28)



(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,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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REFSEQ mRNAs for AKAP14 gene (3 alternative transcripts): 
NM_001008534.1  NM_001008535.1  NM_178813.5  

Unigene Cluster for AKAP14:

A kinase (PRKA) anchor protein 14
Hs.592245  [show with all ESTs]
Unigene Representative Sequence: BC066357
7 Ensembl transcripts including schematic representations, and UCSC links where relevant:
ENST00000371431(uc004ese.3 uc004esf.3) ENST00000371422 ENST00000334356
ENST00000491105 ENST00000371423 ENST00000371425 ENST00000394594(uc004esd.3)

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Additional mRNA sequence: 

AF514780.1 AF514781.1 AF514782.1 BC066357.1 

5 DOTS entries:

DT.86851991  DT.100745652  DT.95257308  DT.121289693  DT.455943 

Selected AceView cDNA sequences (see all 28):

AI624725 BX112222 AI002127 AF514782 CA945061 AI419955 AW137676 AI633252 
AW340689 AF514780 NM_178813 AA400121 CB854562 AA883165 BU676922 BI559462 
AA400209 BC066357 AI867890 AF514781 AI652093 AW002983 BG182109 AI050687 

GeneLoc Exon Structure


(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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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AKAP14 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>2/3
CGAP TAG: GAGTCATTCC
AKAP14 Expression
About this image


AKAP14 expression in embryonic tissues and stem cells    About this table
Data from LifeMap, the Embryonic Development and Stem Cells Database
 selected tissues (see all 2) fully expand
 
 Testis (Reproductive System)
         Spermatid Seminiferous Tubules
 
 Gonad
         Spermatid Seminiferous Tubules
AKAP14 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

AKAP14 Protein Expression

SOURCE GeneReport for Unigene cluster: Hs.592245

UniProtKB/Swiss-Prot: AKA28_HUMAN, Q86UN6
Tissue specificity: Present in cilia (at protein level). Expressed in tissues containing axoneme-based organelles
(cilia and/or flagella): trachea and testis. Highly expressed in airway cilia

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In Situ
Assay Products:
 

 
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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)
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This gene was present in the common ancestor of chordates.

Orthologs for AKAP14 gene from Selected species (see all 9)    About this table
Organism Taxonomic
classification
Gene Description Human
Similarity
Orthology
Type
Details
mouse
(Mus musculus)
Mammalia Akap141 , 5 A kinase (PRKA) anchor protein 141, 5 65.57(n)1
47.25(a)1
  X (21.57 cM)5
4347561  NM_001033785.21  NP_001028957.11 
 371506985 
chicken
(Gallus gallus)
Aves AKAP146
A kinase (PRKA) anchor protein 14
32(a)
1 ↔ 1
4(16449800-16452244)
lizard
(Anolis carolinensis)
Reptilia AKAP146
A kinase (PRKA) anchor protein 14
37(a)
1 ↔ 1
GL343950.1(73263-77044)


ENSEMBL Gene Tree for AKAP14 (if available)
TreeFam Gene Tree for AKAP14 (if available)

(Paralogs according to 1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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  --

(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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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Selected SNPs for AKAP14 (see all 432)    About this table    
Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr X posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
rs48254121,2
C,H--119021473(+) AAAAaA/Gagaga 3 -- us2k1 trp31Minor allele frequency- G:0.00NA 2
rs24282271,2
C,F,A,H--119021491(+) agagaA/Gaaaga 3 -- us2k1 trp316Minor allele frequency- G:0.12NS EA WA NA CSA 1750
rs1894227871,2
--119021699(+) TTTCAA/TCTTTG 3 -- us2k10--------
rs1807061391,2
--119021921(+) ATTTAC/GTGAGC 3 -- us2k10--------
rs24282291,2
C--119021934(+) gagacA/Ggatac 3 -- us2k10--------
rs1837899821,2
--119021966(+) TGCTCG/TTTTTC 3 -- us2k10--------
rs778902461,2
C--119022001(+) TGTGAC/GCATAC 3 -- us2k10--------
rs24961911,2
C--119022037(+) atttcC/Tccttt 3 -- us2k1 tfbs3 trp30--------
rs24282301,2
C,F--119022056(+) tatttT/Attatt 3 -- us2k1 tfbs31Minor allele frequency- A:0.00CSA 1
rs24282311,2
C--119022107(+) tgcccA/Gggttg 3 -- us2k10--------

HapMap Linkage Disequilibrium report for AKAP14 (119029800 - 119054679 bp)

Structural Variations
     Database of Genomic Variants (DGV) Selected variations for AKAP14 (see all 14):    About this table    
Variant IDTypeSubtypePubMed ID
esv996782CNV Insertion20482838
nsv7059CNV Insertion18451855
esv996162CNV Insertion20482838
nsv7058CNV Insertion18451855
esv29965CNV Gain17803354
esv26416CNV Gain19812545
nsv515676CNV Gain19592680
nsv433462CNV Gain18776910
nsv9969CNV Gain18304495
dgv203e180CNV Gain20482838

Locus Specific Mutation Databases (LSDB): AKAP14

Site Specific Mutation Identification with PCR Assays
SeqTarget long-range PCR primers for resequencing AKAP14
DNA2.0 Custom Variant and Variant Library Synthesis for AKAP14

(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.)
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OMIM gene information: 300462    OMIM disorders: --


AKAP14 for disorders           About GeneDecksing


Export disorders for AKAP14 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)
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PubMed articles for AKAP14 gene integrated from 10 sources:
(articles sorted by number of sources associating them with AKAP14)
    Utopia: connect your pdf to the dynamic
world of online information

  1. Characterization of an A-kinase anchoring protein in human ciliary axonemes. (PubMed id 12475942)1, 2, 3 Kultgen P.L.... Milgram S.L. (Mol. Biol. Cell 2002)
  2. 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. (Genome Res. 2004)
  3. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002)
  4. Creation of genome-wide protein expression libraries using random activation of gene expression. (PubMed id 11329013)1 Harrington J.J.... Ducar M. (Nat. Biotechnol. 2001)

(in PubMed, OMIM, and NCBI Bookshelf)
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 ANDOR
Aliases
Free Text  

  Query String
PubMed
OMIM
NCBI Bookshelf
  (Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 158798 HGNC: 24061 AceView: AKAP14 Ensembl:ENSG00000186471 euGenes: HUgn158798
ECgene: AKAP14 H-InvDB: AKAP14

(According to HUGE)
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  --

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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NameDescription
PharmGKB entry for AKAP14 Pharmacogenomics, SNPs, Pathways

(Patent information from GeneIP,
Licensable technologies from WIS Yeda, Salk, Tufts,
IP news from LifeMap Sciences, Inc.)
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Patent Information for AKAP14 gene:
Search GeneIP for patents involving AKAP14

GeneCards and IP:
Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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 Custom PCR Arrays for AKAP14 Search Chromatin IP Primers for AKAP14
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 Search Tocris compounds for AKAP14 (AKA28)
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 Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies

 Novus Tissue Slides
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 See all of Abcam's Antibodies, Kits and Proteins for AKAP14
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 Browse ESI BIO Cell Lines and PureStem Progenitors for AKAP14
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 ThermoFisher Antibodies for AKAP14
 Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat AKAP14
 inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for AKAP14
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 LSBio Antibodies in human, mouse, rat for AKAP14
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GeneCards Homepage - Last full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 2014

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