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

AKAP17A Gene

protein-coding   GIFtS: 46
GCID: GC0XP001710

A kinase (PRKA) anchor protein 17A

(Previous names: chromosome X and Y open reading frame 3, splicing factor,...)
(Previous symbols: CXYorf3, SFRS17A)
 Explore 5 diseases affiliated with
AKAP17A via
MalaCards
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 Human Malady Compendium 
Biological research products
for AKAP17A    

Aliases
for AKAP17A gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
This gene clusters with an RNA gene
Subcategory (RNA class): lncRNA

Quality score for the ORGUL clustered with this gene is 3

Aliases
A Kinase (PRKA) Anchor Protein 17A1 2     AKAP-17A2 3
DXYS155E1 2 3 5     PRKA17A2 3
SFRS17A1 2 3 5     MGC399041
XE71 2 3 5     Chromosome X And Y Open Reading Frame 31
Splicing Factor, Arginine/Serine-Rich 17A1 2 3     A-Kinase Anchor Protein 17A2
721P1 2 3     B-Lymphocyte Surface Antigen2
CXYorf31 2 3     Pseudoautosomal Gene XE72
CCDC1331 2     B-Lymphocyte Antigen3
XE7Y1 2     Protein XE73
Protein Kinase A-Anchoring Protein 17A2 3     

External Ids:    HGNC: 187831   Entrez Gene: 82272   Ensembl: ENSG000001979767   OMIM: 3120955   UniProtKB: Q020403   
ORGUL members:         
NONCODE:n407832    

Export aliases for AKAP17A gene to outside databases


Summaries
for AKAP17A gene

(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 AKAP17A:
This locus encodes a protein kinase A anchoring protein. The encoded protein is part of the spliceosome complex and is
involved in the regulation of alternate splicing in some mRNA precursors. Alternatively spliced transcript variants
have been identified for this gene.(provided by RefSeq, Sep 2010)

UniProtKB/Swiss-Prot: AK17A_HUMAN, Q02040
Function: Splice factor regulating alternative splice site selection for certain mRNA precursors. Mediates regulation
of pre-mRNA splicing in a PKA-dependent manner

Gene Wiki entry for AKAP17A (SFRS17A)


Genomic Views
for AKAP17A gene

(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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
 Regulatory elements:
   Search SABiosciences Regulatory transcription factor binding sites for AKAP17A
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search SABiosciences Chromatin IP Primers for AKAP17A

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat AKAP17A


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

Entrez Gene cytogenetic band: Xp22.33 and Yp11.32   Ensembl cytogenetic band:  Xp22.33   HGNC cytogenetic band: Xp22.33 and Yp11.32

AKAP17A Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
AKAP17A gene location

GeneLoc information about chromosome X         GeneLoc Exon Structure

GeneLoc location for GC0XP001710:  view genomic region     (about GC identifiers)

Start:
 1,710,486 bp from pter      End:
 1,721,413 bp from pter
Size:
 10,928 bases      Orientation:
 plus strand

1 alternative location:
ChrY+ 1,660,486-1,671,413     

Proteins
for AKAP17A gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section
UniProtKB/Swiss-Prot: AK17A_HUMAN, Q02040 (See protein sequence)
Recommended Name: A-kinase anchor protein 17A  
Size: 695 amino acids; 80735 Da
Subunit: Monomer. Component of the spliceosome. Interacts with ZRANB2 and SFRS1/ASF through its Arg/Ser-rich domain.
Interacts with RI and RII subunits of PKA
Subcellular location: Nucleus speckle
Miscellaneous: The gene encoding for this protein is located in the pseudoautosomal region 1 (PAR1) of X and Y
chromosomes
Caution: Was originally (PubMed:1438229) thought to be a cell surface protein involved in B-cell activation
Sequence caution: Sequence=AAA36187.1; Type=Frameshift; Positions=461;
Secondary accessions: Q02832 Q2TB98 Q5JQ74 Q5JQ76 Q8N6U9
Alternative splicing: 3 isoforms:  Q02040-1   Q02040-2   Q02040-3   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for AKAP17A: NX_Q02040

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q02040

    • AKAP17A Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_005079.2  
    ENSEMBL proteins: 
     ENSP00000324827   ENSP00000435479   ENSP00000370660  

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    Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA19840947
    GO:0005681spliceosomal complex IEA--
    GO:0016607nuclear speck IDA16982639


    AKAP17A for ontologies           About GeneDecksing



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    Protein Domains /
    Families
    for AKAP17A gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    AKAP17A for domains           About GeneDecksing

    1 InterPro domain/family:
     IPR012677 Nucleotide-bd_a/b_plait

    Graphical View of Domain Structure for InterPro Entry Q02040

    ProtoNet protein and cluster: Q02040

    UniProtKB/Swiss-Prot: AK17A_HUMAN, Q02040
    Domain: RI-alpha binding site, predicted to form an amphipathic helix, could participate in protein-protein
    interactions with a complementary surface on the R-subunit dimer
    Similarity: Contains 1 RRM (RNA recognition motif) domain


    Function
    for AKAP17A gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    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, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         UniProtKB/Swiss-Prot: AK17A_HUMAN, Q02040
    Function: Splice factor regulating alternative splice site selection for certain mRNA precursors. Mediates regulation
    of pre-mRNA splicing in a PKA-dependent manner

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    In Situ Assay
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    Gene Ontology (GO): 4 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000166nucleotide binding IEA--
    GO:0003723RNA binding IEA--
    GO:0005515protein binding IPI16982639
    GO:0051018protein kinase A binding IDA19840947


    AKAP17A for ontologies           About GeneDecksing



    Pathways & Interactions
    for AKAP17A gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 2013 via Entrez Gene).
    About This Section



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for AKAP17A

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

    5/7 Interacting proteins for AKAP17A (Q020401, 2, 3 ENSP000003248274) via UniProtKB, MINT, STRING, and/or I2D (see all 7)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CCDC85BQ158342, 3, ENSP000003116954MINT-66309 I2D: score=5 STRING: ENSP00000311695
    NINLQ9Y2I62, 3, ENSP000002788864MINT-66601 I2D: score=5 STRING: ENSP00000278886
    ZRANB2O952181, 3, ENSP000003599584EBI-1042725,EBI-1166395 I2D: score=2 STRING: ENSP00000359958
    MDFIQ997502, 3, ENSP000002303214MINT-66281 I2D: score=5 STRING: ENSP00000230321
    EIF4A2Q142403, ENSP000003263814I2D: score=2 STRING: ENSP00000326381
    About this table

    Gene Ontology (GO): 5/6 biological process terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006355regulation of transcription, DNA-dependent NAS1438229
    GO:0006397mRNA processing IEA--
    GO:0007165signal transduction NAS1438229
    GO:0008380RNA splicing IEA--
    GO:0042113B cell activation NAS1438229


    AKAP17A for ontologies           About GeneDecksing



    Drugs & Compounds
    for AKAP17A gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, 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 AKAP17A
    Search CenterWatch for drugs/clinical trials and news about AKAP17A / AK17A 

    Transcripts
    for AKAP17A gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
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    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    REFSEQ mRNAs for AKAP17A gene: 
    NM_005088.2  

    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000313871(uc004cqa.3) ENST00000474361(uc004cqb.3) ENST00000381261(uc010ncx.1)


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    hsa-miR-32*
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    Inhib. RNA
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    Primer
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    24/301 AceView cDNA sequences (see all 301):

    BE857665 CA865777 AI810064 AI885136 AW978405 BC028151 BG056975 AI143357 
    BQ638404 CK825105 BF854430 M83779 CK825104 NM_005088 BU629522 AI200341 
    BM510017 AI553965 AI433949 BF514862 BX105929 BQ433141 BC016935 AA768174 

    GeneLoc Exon Structure

    3 Alternative Splicing Database (ASD) splice patterns (SP) for AKAP17A    About this scheme

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


    ECgene alternative splicing isoforms for AKAP17A

    Expression
    for AKAP17A gene

    (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

    AKAP17A expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: CTTTAGAGAT

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image
    See AKAP17A Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for AKAP17A

    UniProtKB/Swiss-Prot: AK17A_HUMAN, Q02040
    Tissue specificity: Widely expressed. Found in heart, brain, lung, liver, skeletal muscle, kidney and pancreas.
    Expressed in activated B-cells and placenta. Expressed in all cell lines tested including Jurkat-TAg, U-937 and HEK293
    cells

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    In Situ
    Assay Products:     
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    Orthologs
    for AKAP17A gene

    (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 animals.

    Orthologs for AKAP17A gene from 6/20 species (see all 20)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    chicken
    (Gallus gallus)    		 Aves AKAP17A1 A kinase (PRKA) anchor protein 17A 65.78(n)
    74.67(a)    		   418664  NM_001195550.1  NP_001182479.1 
    lizard
    (Anolis carolinensis)    		 Reptilia AKAP17A6
    		 --
    		 89(a)
    		 1 ↔ 1
    		 3(113347758-113358806)
    African clawed frog
    (Xenopus laevis)    		 Amphibia Xl.321042 Xenopus laevis transcribed sequence with moderate similarity more 75.9(n)    BJ619586.1 
    zebrafish
    (Danio rerio)    		 Actinopterygii zgc658882 hypothetical protein MGC65888 82.2(n)   393655  BC058319.1 
    fruit fly
    (Drosophila melanogaster)    		 Insecta Xe71 CG2179-PA 48.34(n)
    38.4(a)    		   40699  NM_169093.2  NP_730984.1 
    worm
    (Caenorhabditis elegans)    		 Secernentea cux-71 Protein CUX-7 46.52(n)
    43.03(a)    		   176066  NM_066250.5  NP_498651.2 
            Species with no ortholog for AKAP17A

    ENSEMBL Gene Tree for AKAP17A (if available)
    TreeFam Gene Tree for AKAP17A (if available) 

    Paralogs
    for AKAP17A gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for AKAP17A gene
    1 SIMAP similar gene for AKAP17A using alignment to 1 protein entry:     AK17A_HUMAN:
    SFRS17A

    AKAP17A for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for AKAP17A
    PGOHUM00000241516


    Genomic Variants
    for AKAP17A gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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

    Locus Specific Mutation Databases (LSDB): AKAP17A
    SABiosciences Cancer Mutation PCR Assays
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    DNA2.0 Custom Variant and Variant Library Synthesis for AKAP17A

    Disorders / Diseases
    for AKAP17A gene

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    AKAP17A for disorders           About GeneDecksing

    OMIM gene information: 312095    OMIM disorders: --

    5 diseases for AKAP17A:    About MalaCards
    null-cell leukemia    b-cell lymphomas    rheumatic fever    t-cell leukemia
    leukemia

    2 diseases from the University of Copenhagen DISEASES database for AKAP17A:
    Chronic tic disorder     Rheumatic fever

    Export disorders for AKAP17A gene to outside databases

    Publications
    for AKAP17A gene

    (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 AKAP17A gene, integrated from 9 sources (see all 19):
    (articles sorted by number of sources associating them with AKAP17A)    		    Utopia: connect your pdf to the dynamic
    world of online information

    1. Splicing factor arginine/serine-rich 17A (SFRS17A) is an A-kinase anchoring protein that targets protein kinase A to splicing factor compartments. (PubMed id 19840947)1, 2, 3 Jarnaess E....TaskAcn K. (2009)
    2. Cloning and sequencing of a trophoblast-endothelial-activated lymphocyte surface protein: cDNA sequence and genomic structure. (PubMed id 1438229)1, 2, 3 Voland J.R....Dutton R.W. (1992)
    3. XE7: a novel splicing factor that interacts with ASF/SF2 and ZNF265. (PubMed id 16982639)1, 2 Mangs A.H....Morris B.J. (2006)
    4. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PubMed id 17081983)1, 2 Olsen J.V....Mann M. (2006)
    5. 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)
    6. An unappreciated role for RNA surveillance. (PubMed id 14759258)1, 2 Hillman R.T.... Brenner S.E. (2004)
    7. Gene duplications as a recurrent theme in the evolution of the human pseudoautosomal region 1: isolation of the gene ASMTL. (PubMed id 9736779)1, 3 Ried K.... Rappold G.A. (1998)
    8. Structure and expression of the human pseudoautosomal gene XE7. (PubMed id 1302606)1, 2 Ellison J.W.... Shapiro L.J. (1992)
    9. System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation. (PubMed id 21406692)2 Rigbolt K.T....Blagoev B. (2011)
    10. Mass spectrometric analysis of lysine ubiquitylation r eveals promiscuity at site level. (PubMed id 21139048)1 Danielsen J.M....Nielsen M.L. (2011)

    External Searches for AKAP17A gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Free Text  
      Query String
    		PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    Genome Databases showing AKAP17A gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 8227 HGNC: 18783 AceView: ASMT.1 Ensembl:ENSG00000197976 euGenes: HUgn8227
    ECgene: AKAP17A H-InvDB: AKAP17A

    Other Databases showing AKAP17A gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing AKAP17A gene

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for AKAP17A Pharmacogenomics, SNPs, Pathways

    Intellectual Property
    for AKAP17A gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    		Patent Information for AKAP17A gene:
    Search GeneIP for patents involving AKAP17A

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



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